Name

CORUM Protein Complexes Dataset

From CORUM

proteins participating in complexes by manual literature curation

NURSA Protein Complexes Dataset

From Nuclear Receptor Signaling Atlas

proteins identified in complexes isolated from cultured cells

Hub Proteins Protein-Protein Interactions Dataset

From Hub Proteins

sets of proteins interacting with hub proteins

NURSA Protein-Protein Interactions Dataset

From Nuclear Receptor Signaling Atlas

protein-protein interactions inferred from membership in complexes

Pathway Commons Protein-Protein Interactions Dataset

From Pathway Commons

protein-protein interactions from low-throughput or high-throughput studies aggregated by Pathway Commons from the following databases: Reactome, NCI Pathways, PhosphoSite, HumanCyc, HPRD, PANTHER, DIP, BioGRID, IntAct, BIND, Transfac, MiRTarBase, Drugbank, Recon X, Comparative Toxicogenomics Database, and KEGG

Virus MINT Protein-Viral Protein Interactions Dataset

From Virus MINT

interactions between viral and human proteins manually curated from literature

COMPARTMENTS Curated Protein Localization Evidence Scores Dataset

From COMPARTMENTS

protein subcellular localization evidence scores by manual literature curation

COMPARTMENTS Experimental Protein Localization Evidence Scores Dataset

From COMPARTMENTS

protein subcellular localization evidence scores by integrating experimental data

COMPARTMENTS Text-mining Protein Localization Evidence Scores Dataset

From COMPARTMENTS

gene-cellular compartment co-occurrence scores from text-mining biomedical abstracts

Guide to Pharmacology Protein Ligands of Receptors Dataset

From Guide to Pharmacology

ligand-receptor interactions curated by experts

HPA Tissue Protein Expression Profiles Dataset

From Human Protein Atlas

semiquantitative protein expression profiles for tissues

HPM Cell Type and Tissue Protein Expression Profiles Dataset

From Human Proteome Map

protein expression profiles for tissues and cell types

InterPro Predicted Protein Domain Annotations Dataset

From InterPro

protein domains predicted for gene products based on sequence similarity to known domain signatures

LOCATE Curated Protein Localization Annotations Dataset

From LOCATE

subcellular localization of proteins from low-throughput or high-throughput protein localization assays

ProteomicsDB Cell Type and Tissue Protein Expression Profiles Dataset

From Proteomics Database

protein expression profiles for tissues and cell types reprocessed from many proteomics datasets

SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands Dataset

From SILAC Phosphoproteomics

phosphorylation levels of proteins in cell lines following ligand treatment

TISSUES Curated Tissue Protein Expression Evidence Scores Dataset

From TISSUES

protein tissue expression evidence scores by manual literature curation

TISSUES Experimental Tissue Protein Expression Evidence Scores Dataset

From TISSUES

protein tissue expression evidence scores by integrating experimental data

TISSUES Text-mining Tissue Protein Expression Evidence Scores Dataset

From TISSUES

gene-tissue co-occurrence scores from text-mining biomedical abstracts

Virus MINT Protein-Virus Interactions Dataset

From Virus MINT

interactions between viruses and human proteins manually curated from literature

LOCATE Predicted Protein Localization Annotations Dataset

From LOCATE

subcellular localization of proteins by sequence similarity to localization sequences

HPA Cell Line Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for cell lines

HPA Tissue Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissues

HPA Tissue Sample Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissue samples

LOC100533940 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC101927309 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like

PPFIA4 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4

PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]

LOC101928777 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 pseudogene

LOC644172 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

MAPK1IP1L Gene

mitogen-activated protein kinase 1 interacting protein 1-like

APBB1IP Gene

amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein

LOC100422713 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene

LOC100422710 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene

LOC102724042 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 pseudogene

LOC102723528 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 pseudogene

MAPK8IPP Gene

mitogen-activated protein kinase 8 interacting protein, pseudogene

NUFIP2 Gene

nuclear fragile X mental retardation protein interacting protein 2

NUFIP1 Gene

nuclear fragile X mental retardation protein interacting protein 1

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

LOC101928467 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 pseudogene

PPFIBP1 Gene

PTPRF interacting protein, binding protein 1 (liprin beta 1)

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PPFIBP2 Gene

PTPRF interacting protein, binding protein 2 (liprin beta 2)

This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

LOC728098 Gene

mitogen-activated protein kinase 1 interacting protein 1-like pseudogene

MAPK8IP1 Gene

mitogen-activated protein kinase 8 interacting protein 1

This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]

MAPK8IP2 Gene

mitogen-activated protein kinase 8 interacting protein 2

The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014]

MAPK8IP3 Gene

mitogen-activated protein kinase 8 interacting protein 3

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

PAIP1P1 Gene

poly(A) binding protein interacting protein 1 pseudogene 1

PAIP2 Gene

poly(A) binding protein interacting protein 2

PAIP1 Gene

poly(A) binding protein interacting protein 1

The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

NUFIP1P Gene

nuclear fragile X mental retardation protein interacting protein 1 pseudogene

LOC100533943 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100533942 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100533941 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100533949 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418622 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100418623 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100418620 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC101928960 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 pseudogene

PAIP2B Gene

poly(A) binding protein interacting protein 2B

Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]

LOC100418685 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418686 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418687 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100533938 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100533939 Gene

poly(A) binding protein interacting protein 1 pseudogene

ZIK1P1 Gene

zinc finger protein interacting with K protein 1 pseudogene 1

PPFIA2 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PPFIA3 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]

PPFIA1 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LOC101930525 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 pseudogene

CCNB1IP1 Gene

cyclin B1 interacting protein 1, E3 ubiquitin protein ligase

HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]

LOC100418619 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC102723438 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 pseudogene

ZIK1 Gene

zinc finger protein interacting with K protein 1

LOC100533950 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100533951 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

VCPIP1 Gene

valosin containing protein (p97)/p47 complex interacting protein 1

LOC100533937 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC105374377 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 pseudogene

LOC100418624 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100418625 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100418621 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC645139 Gene

poly(A) binding protein interacting protein 1 pseudogene

OIP5 Gene

Opa interacting protein 5

LOC105370045 Gene

filamin-interacting protein FAM101A

SCHIP1 Gene

schwannomin interacting protein 1

BRIP1 Gene

BRCA1 interacting protein C-terminal helicase 1

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]

PAXIP1 Gene

PAX interacting (with transcription-activation domain) protein 1

This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]

CNRIP1 Gene

cannabinoid receptor interacting protein 1

This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

GRID2IP Gene

glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein

Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]

CYFIP1 Gene

cytoplasmic FMR1 interacting protein 1

CYFIP2 Gene

cytoplasmic FMR1 interacting protein 2

LOC646012 Gene

aurora kinase A interacting protein 1 pseudogene

ST13P19 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 19

ST13P18 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18

ST13P17 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 17

ST13P16 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16

ST13P15 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 15

ST13P14 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14

ST13P13 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 13

ST13P12 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 12

ST13P11 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 11

ST13P10 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 10

LOC100128373 Gene

AKT interacting protein pseudogene

SYNCRIP Gene

synaptotagmin binding, cytoplasmic RNA interacting protein

This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]

LOC100128762 Gene

telomeric repeat binding factor 2, interacting protein pseudogene

SSX2IP Gene

synovial sarcoma, X breakpoint 2 interacting protein

This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]

RILPL1 Gene

Rab interacting lysosomal protein-like 1

RILPL2 Gene

Rab interacting lysosomal protein-like 2

This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

LOC100288151 Gene

SREK1-interacting protein 1 pseudogene

TRAIP Gene

TRAF interacting protein

This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008]

INCA1 Gene

inhibitor of CDK, cyclin A1 interacting protein 1

RPAIN Gene

RPA interacting protein

RPGRIP1 Gene

retinitis pigmentosa GTPase regulator interacting protein 1

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

MLXIPL Gene

MLX interacting protein-like

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. [provided by RefSeq, Jul 2008]

RBMS1P1 Gene

RNA binding motif, single stranded interacting protein 1 pseudogene 1

SNCAIP Gene

synuclein, alpha interacting protein

This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

MLIP Gene

muscular LMNA-interacting protein

CATIP Gene

ciliogenesis associated TTC17 interacting protein

NRIP1 Gene

nuclear receptor interacting protein 1

Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008]

NRIP2 Gene

nuclear receptor interacting protein 2

NRIP3 Gene

nuclear receptor interacting protein 3

CDKN2AIP Gene

CDKN2A interacting protein

LOC100130746 Gene

AKT interacting protein pseudogene

LOC105373509 Gene

BBSome-interacting protein 1-like

LOC653513 Gene

phosphodiesterase 4D interacting protein pseudogene

NOSIP Gene

nitric oxide synthase interacting protein

The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]

SLX4IP Gene

SLX4 interacting protein

HIPK2 Gene

homeodomain interacting protein kinase 2

This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

JAKMIP3 Gene

Janus kinase and microtubule interacting protein 3

JAKMIP2 Gene

janus kinase and microtubule interacting protein 2

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

JAKMIP1 Gene

janus kinase and microtubule interacting protein 1

IER3IP1 Gene

immediate early response 3 interacting protein 1

This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]

LOC100420990 Gene

aurora kinase A interacting protein 1 pseudogene

TTI2 Gene

TELO2 interacting protein 2

This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]

TTI1 Gene

TELO2 interacting protein 1

MPLKIP Gene

M-phase specific PLK1 interacting protein

The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]

NPIPP1 Gene

nuclear pore complex interacting protein pseudogene 1

PHYHIP Gene

phytanoyl-CoA 2-hydroxylase interacting protein

NPIP Gene

nuclear pore complex interacting protein family, member A1 pseudogene

PIK3IP1 Gene

phosphoinositide-3-kinase interacting protein 1

PTTG1IP Gene

pituitary tumor-transforming 1 interacting protein

This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]

LOC645262 Gene

phosphodiesterase 4D interacting protein-like

TXNIP Gene

thioredoxin interacting protein

LOC100420895 Gene

fibrous sheath-interacting protein 2 pseudogene

TSNAXIP1 Gene

translin-associated factor X interacting protein 1

CTNNBIP1 Gene

catenin, beta interacting protein 1

The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

CNTROB Gene

centrobin, centrosomal BRCA2 interacting protein

This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

POLDIP3 Gene

polymerase (DNA-directed), delta interacting protein 3

This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

POLDIP2 Gene

polymerase (DNA-directed), delta interacting protein 2

This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

NPIPB15 Gene

nuclear pore complex interacting protein family, member B15

ARL6IP1P1 Gene

ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 1

ARL6IP1P2 Gene

ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 2

ARL6IP1P3 Gene

ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 3

NDFIP2 Gene

Nedd4 family interacting protein 2

CCNB1IP1P3 Gene

cyclin B1 interacting protein 1 pseudogene 3

CCNB1IP1P2 Gene

cyclin B1 interacting protein 1 pseudogene 2

CCNB1IP1P1 Gene

cyclin B1 interacting protein 1 pseudogene 1

LOC100421279 Gene

phosphodiesterase 4D interacting protein pseudogene

SVIP Gene

small VCP/p97-interacting protein

NFATC2IP Gene

nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein

STK11IP Gene

serine/threonine kinase 11 interacting protein

HHIP Gene

hedgehog interacting protein

This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]

HIP1 Gene

huntingtin interacting protein 1

The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PBXIP1 Gene

pre-B-cell leukemia homeobox interacting protein 1

FNIP1 Gene

folliculin interacting protein 1

FNIP2 Gene

folliculin interacting protein 2

MAFIP Gene

MAFF interacting protein (pseudogene)

This gene was originally thought to be a protein coding gene. However, the encoded protein sequence is highly similar to the C-terminal sequence of the tektin-4 protein, and the transcript sequences of this gene are highly similar to the TEKT4 pseudogenes, which are found on chromosomes 4, 21 and Y, respectively. Therefore, this gene is thought to be another pseudogene of the TEKT4 gene (GeneID:150483). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]

ZWINT Gene

ZW10 interacting kinetochore protein

This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RAB3IL1 Gene

RAB3A interacting protein (rabin3)-like 1

This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]

MYLIP Gene

myosin regulatory light chain interacting protein

The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]

PICK1 Gene

protein interacting with PRKCA 1

The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

LOC440353 Gene

nuclear pore complex interacting protein family, member A1 pseudogene

LRRFIP1 Gene

leucine rich repeat (in FLII) interacting protein 1

LRRFIP2 Gene

leucine rich repeat (in FLII) interacting protein 2

TFIP11 Gene

tuftelin interacting protein 11

TFIP11 is a nuclear speckle-localized protein that may play a role in spliceosome disassembly in Cajal bodies (Stanek et al., 2008 [PubMed 18367544]).[supplied by OMIM, Apr 2009]

ST13P9 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 9

ST13P8 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 8

ST13P7 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7

ST13P6 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 6

ST13P5 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5

ST13P4 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4

ST13P3 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 3

ST13P2 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2

ST13P1 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 1

LOC100421336 Gene

RAB3A interacting protein (rabin3)-like 1 pseudogene

NIFK Gene

nucleolar protein interacting with the FHA domain of MKI67

This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq, Jan 2009]

LOC102724258 Gene

WAS/WASL-interacting protein family member 1-like

LOC100132057 Gene

phosphodiesterase 4D interacting protein pseudogene

KAZN Gene

kazrin, periplakin interacting protein

This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]

RAB11FIP1P1 Gene

RAB11 family interacting protein 1 (class I) pseudogene 1

LOC100216346 Gene

ADP-ribosylation factor-like 6 interacting protein 6 pseudogene

AKTIP Gene

AKT interacting protein

The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

PSIP1P2 Gene

PC4 and SFRS1 interacting protein 1 pseudogene 2

PSIP1P1 Gene

PC4 and SFRS1 interacting protein 1 pseudogene 1

LOC100128086 Gene

APAF1 interacting protein pseudogene

BNIP3L Gene

BCL2/adenovirus E1B 19kDa interacting protein 3-like

This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]

SREK1IP1 Gene

SREK1-interacting protein 1

ARL6IP6 Gene

ADP-ribosylation factor-like 6 interacting protein 6

ARL6IP5 Gene

ADP-ribosylation factor-like 6 interacting protein 5

Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]

ARL6IP4 Gene

ADP-ribosylation factor-like 6 interacting protein 4

ARL6IP1 Gene

ADP-ribosylation factor-like 6 interacting protein 1

LOC100288241 Gene

protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) pseudogene

NDFIP1 Gene

Nedd4 family interacting protein 1

The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008]

BNIP3P7 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 7

LOC100270647 Gene

nucleolar protein interacting with the FHA domain of MKI67 pseudogene

GMIP Gene

GEM interacting protein

This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LOC101059924 Gene

AKT-interacting protein-like

GRIP1 Gene

glutamate receptor interacting protein 1

This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]

GRIP2 Gene

glutamate receptor interacting protein 2

TRAF3IP3 Gene

TRAF3 interacting protein 3

The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

TRAF3IP1 Gene

TNF receptor-associated factor 3 interacting protein 1

NPIPB5 Gene

nuclear pore complex interacting protein family, member B5

LOC613037 Gene

nuclear pore complex interacting protein pseudogene

SGIP1 Gene

SH3-domain GRB2-like (endophilin) interacting protein 1

SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]

PSTPIP2 Gene

proline-serine-threonine phosphatase interacting protein 2

PSTPIP1 Gene

proline-serine-threonine phosphatase interacting protein 1

The protein encoded by this gene binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, negatively affecting CD2-triggered T cell activation. The encoded protein appears to be a scaffold protein and a regulator of the actin cytoskeleton. It has also been shown to bind ABL1, PTPN18, WAS, CD2AP, and PTPN12. Mutations in this gene are a cause of PAPA syndrome. [provided by RefSeq, Jul 2008]

BNIP3P34 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 34

BNIP3P39 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 39

BNIP3P38 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 38

GIT1 Gene

G protein-coupled receptor kinase interacting ArfGAP 1

GIT2 Gene

G protein-coupled receptor kinase interacting ArfGAP 2

This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]

MYRIP Gene

myosin VIIA and Rab interacting protein

FILIP1 Gene

filamin A interacting protein 1

HRK Gene

harakiri, BCL2 interacting protein

This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

DZIP3 Gene

DAZ interacting zinc finger protein 3

DZIP1 Gene

DAZ interacting zinc finger protein 1

LOC102724474 Gene

WAS/WASL-interacting protein family member 2-like

GADD45GIP1 Gene

growth arrest and DNA-damage-inducible, gamma interacting protein 1

This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]

LOC199882 Gene

phosphodiesterase 4D interacting protein-like

RASIP1 Gene

Ras interacting protein 1

ITPRIPL2 Gene

inositol 1,4,5-trisphosphate receptor interacting protein-like 2

ITPRIPL1 Gene

inositol 1,4,5-trisphosphate receptor interacting protein-like 1

HIRIP3 Gene

HIRA interacting protein 3

The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011]

CIZ1 Gene

CDKN1A interacting zinc finger protein 1

The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

LOC101929775 Gene

C-Jun-amino-terminal kinase-interacting protein 1-like

CDKN2AIPNL Gene

CDKN2A interacting protein N-terminal like

PDE4DIPP1 Gene

phosphodiesterase 4D interacting protein pseudogene 1

AIPL1 Gene

aryl hydrocarbon receptor interacting protein-like 1

Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

ZNF664-FAM101A Gene

filamin-interacting protein FAM101A

This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 664 (GeneID 144348) and hypothetical protein LOC144347 (GeneID 144347) genes on chromosome 12. The read-through transcript produces a protein that shares sequence identity with the downstream hypothetical protein LOC144347 locus. [provided by RefSeq, Feb 2011]

APIP Gene

APAF1 interacting protein

APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]

NIFKP1 Gene

nucleolar protein interacting with the FHA domain of MKI67 pseudogene 1

NIFKP2 Gene

nucleolar protein interacting with the FHA domain of MKI67 pseudogene 2

NIFKP3 Gene

nucleolar protein interacting with the FHA domain of MKI67 pseudogene 3

NIFKP4 Gene

nucleolar protein interacting with the FHA domain of MKI67 pseudogene 4

NIFKP5 Gene

nucleolar protein interacting with the FHA domain of MKI67 pseudogene 5

NIFKP6 Gene

nucleolar protein interacting with the FHA domain of MKI67 pseudogene 6

NIFKP8 Gene

nucleolar protein interacting with the FHA domain of MKI67 pseudogene 8

MID1IP1 Gene

MID1 interacting protein 1

LOC101060275 Gene

nuclear pore complex-interacting protein family member B4-like

HYPM Gene

huntingtin interacting protein M

This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011]

HYPK Gene

huntingtin interacting protein K

SDIM1 Gene

stress responsive DNAJB4 interacting membrane protein 1

RAB3IP Gene

RAB3A interacting protein

NPIPA8 Gene

nuclear pore complex interacting protein family, member A8

NPIPA5 Gene

nuclear pore complex interacting protein family, member A5

NPIPA7 Gene

nuclear pore complex interacting protein family, member A7

NPIPA1 Gene

nuclear pore complex interacting protein family, member A1

NPIPA2 Gene

nuclear pore complex interacting protein family, member A2

NPIPA3 Gene

nuclear pore complex interacting protein family, member A3

HIPK3 Gene

homeodomain interacting protein kinase 3

HIPK1 Gene

homeodomain interacting protein kinase 1

The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]

HIPK4 Gene

homeodomain interacting protein kinase 4

TIPIN Gene

TIMELESS interacting protein

The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM, which is involved in circadian rhythm regulation, and aids in protecting cells against DNA damage and stress. Two pseudogenes and two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

AURKAIP1 Gene

aurora kinase A interacting protein 1

PDE4DIP Gene

phosphodiesterase 4D interacting protein

The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

PHYHIPL Gene

phytanoyl-CoA 2-hydroxylase interacting protein-like

DAB2IP Gene

DAB2 interacting protein

DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]

RTN4IP1 Gene

reticulon 4 interacting protein 1

This gene encodes a novel mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. The interaction of reticulon 4 with mitochondrial proteins may provide insight into the mechanisms for reticulon-induced inhibition of neurite growth. [provided by RefSeq, Jul 2008]

KCNIP4 Gene

Kv channel interacting protein 4

This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

KCNIP3 Gene

Kv channel interacting protein 3, calsenilin

This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

KCNIP2 Gene

Kv channel interacting protein 2

This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]

KCNIP1 Gene

Kv channel interacting protein 1

This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

LOC100130684 Gene

fibrous sheath-interacting protein 2-like

DZIP1L Gene

DAZ interacting zinc finger protein 1-like

TRAF3IP2 Gene

TRAF3 interacting protein 2

This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]

INIP Gene

INTS3 and NABP interacting protein

SOSSC is a subunit of single-stranded DNA (ssDNA)-binding complexes involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

WRNIP1 Gene

Werner helicase interacting protein 1

Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]

DNTTIP1 Gene

deoxynucleotidyltransferase, terminal, interacting protein 1

DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]

DNTTIP2 Gene

deoxynucleotidyltransferase, terminal, interacting protein 2

This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]

BNIP3P40 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 40

BNIP3P41 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 41

PSIP1 Gene

PC4 and SFRS1 interacting protein 1

AKIP1 Gene

A kinase (PRKA) interacting protein 1

This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

TNIP3 Gene

TNFAIP3 interacting protein 3

LOC105376549 Gene

activating transcription factor 7-interacting protein 2 pseudogene

LOC503540 Gene

AKT interacting protein pseudogene

LOC100996724 Gene

phosphodiesterase 4D interacting protein-like

TNIP2 Gene

TNFAIP3 interacting protein 2

This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]

TNIP1 Gene

TNFAIP3 interacting protein 1

This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

MPRIPP1 Gene

myosin phosphatase Rho interacting protein pseudogene 1

ST13P22 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 22

ST13P20 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20

ST13P21 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 21

PROCA1 Gene

protein interacting with cyclin A1

PNISR Gene

PNN-interacting serine/arginine-rich protein

LOC105369271 Gene

nuclear pore complex-interacting protein family member B7-like

DYRK1AIP2 Gene

DYRK1A interacting protein 2

DYRK1AIP1 Gene

DYRK1A interacting protein 1

GSKIP Gene

GSK3B interacting protein

This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

STRIP1 Gene

striatin interacting protein 1

This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

STRIP2 Gene

striatin interacting protein 2

LOC643438 Gene

huntingtin interacting protein K pseudogene

LOC100421267 Gene

phosphodiesterase 4D interacting protein pseudogene

SLIRP Gene

SRA stem-loop interacting RNA binding protein

Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008]

AIMP1P1 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1

AIMP1P2 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2

FILIP1L Gene

filamin A interacting protein 1-like

WTIP Gene

Wilms tumor 1 interacting protein

LOC105375621 Gene

WAS/WASL-interacting protein family member 1-like

BNIP3P10 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 10

BNIP3P13 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 13

BNIP3P12 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 12

BNIP3P14 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 14

BNIP3P17 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 17

LOC100288365 Gene

activating transcription factor 7 interacting protein 2 pseudogene

CYTIP Gene

cytohesin 1 interacting protein

The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008]

MLXIP Gene

MLX interacting protein

This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [provided by RefSeq, Mar 2014]

VIPAS39 Gene

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

LOC641695 Gene

reticulon 4 interacting protein 1 pseudogene

BNIPL Gene

BCL2/adenovirus E1B 19kD interacting protein like

The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

BNIP1 Gene

BCL2/adenovirus E1B 19kDa interacting protein 1

This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]

BNIP2 Gene

BCL2/adenovirus E1B 19kDa interacting protein 2

This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. [provided by RefSeq, Mar 2011]

BNIP3 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3

This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]

TERF2IP Gene

telomeric repeat binding factor 2, interacting protein

The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]

TIFAB Gene

TRAF-interacting protein with forkhead-associated domain, family member B

TIFAB associates with TIFA (MIM 609028) and inhibits TIFA-mediated activation of NF-kappa-B (NFKB1; MIM 164011) (Matsumura et al., 2004 [PubMed 15047173]).[supplied by OMIM, Mar 2009]

ST13 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)

The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

SEC23IP Gene

SEC23 interacting protein

This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

LOC105369248 Gene

nuclear pore complex-interacting protein family member B5-like

AIP Gene

aryl hydrocarbon receptor interacting protein

The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

BBIP1 Gene

BBSome interacting protein 1

This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

LRRFIP1P1 Gene

leucine rich repeat (in FLII) interacting protein 1 pseudogene 1

FSIP2 Gene

fibrous sheath interacting protein 2

FSIP1 Gene

fibrous sheath interacting protein 1

LOC100287757 Gene

SRA stem-loop interacting RNA binding protein pseudogene

RILP Gene

Rab interacting lysosomal protein

This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]

TOLLIP Gene

toll interacting protein

This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. [provided by RefSeq, Aug 2011]

MPRIP Gene

myosin phosphatase Rho interacting protein

EPM2AIP1 Gene

EPM2A (laforin) interacting protein 1

The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]

LOC644681 Gene

synovial sarcoma, X breakpoint 2 interacting protein pseudogene

CDKN2AIPNLP1 Gene

CDKN2A interacting protein N-terminal like pseudogene 1

CDKN2AIPNLP2 Gene

CDKN2A interacting protein N-terminal like pseudogene 2

CDKN2AIPNLP3 Gene

CDKN2A interacting protein N-terminal like pseudogene 3

LOC724085 Gene

immediate early response 3 interacting protein 1 pseudogene

GIGYF1 Gene

GRB10 interacting GYF protein 1

GIGYF2 Gene

GRB10 interacting GYF protein 2

This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

AUNIP Gene

aurora kinase A and ninein interacting protein

TSGA10IP Gene

testis specific, 10 interacting protein

BNIP3P20 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 20

BNIP3P21 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 21

BNIP3P22 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 22

BNIP3P23 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 23

BNIP3P24 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 24

BNIP3P25 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 25

BNIP3P26 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 26

BNIP3P27 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 27

BNIP3P29 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 29

ERBB2IP Gene

erbb2 interacting protein

This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

RAB11FIP3 Gene

RAB11 family interacting protein 3 (class II)

Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]

RAB11FIP2 Gene

RAB11 family interacting protein 2 (class I)

RAB11FIP1 Gene

RAB11 family interacting protein 1 (class I)

This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]

RAB11FIP5 Gene

RAB11 family interacting protein 5 (class I)

RAB11FIP4 Gene

RAB11 family interacting protein 4 (class II)

Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP4 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Apr 2008]

LOC149844 Gene

synaptotagmin binding, cytoplasmic RNA interacting protein pseudogene

LOC100913179 Gene

SRA stem-loop interacting RNA binding protein pseudogene

NPIPB9 Gene

nuclear pore complex interacting protein family, member B9

SNIP1 Gene

Smad nuclear interacting protein 1

This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]

DEPTOR Gene

DEP domain containing MTOR-interacting protein

PIN4P1 Gene

protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 pseudogene 1

PDZK1IP1 Gene

PDZK1 interacting protein 1

SCIMP Gene

SLP adaptor and CSK interacting membrane protein

This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

RLIMP2 Gene

ring finger protein, LIM domain interacting pseudogene 2

RLIMP3 Gene

ring finger protein, LIM domain interacting pseudogene 3

RLIMP1 Gene

ring finger protein, LIM domain interacting pseudogene 1

TIFA Gene

TRAF-interacting protein with forkhead-associated domain

PAK1IP1 Gene

PAK1 interacting protein 1

LOC100131233 Gene

AKT interacting protein pseudogene

ATF7IP2 Gene

activating transcription factor 7 interacting protein 2

PSMC3IP Gene

PSMC3 interacting protein

This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]

LOC105379554 Gene

maFF-interacting protein

NPIPB11 Gene

nuclear pore complex interacting protein family, member B11

TERF2IPP1 Gene

telomeric repeat binding factor 2, interacting protein pseudogene 1

NPIPB1P Gene

nuclear pore complex interacting protein family, member B1, pseudogene

WIPF3 Gene

WAS/WASL interacting protein family, member 3

WIPF2 Gene

WAS/WASL interacting protein family, member 2

This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008]

WIPF1 Gene

WAS/WASL interacting protein family, member 1

This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

CASKIN2 Gene

CASK interacting protein 2

This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

CASKIN1 Gene

CASK interacting protein 1

NDFIP1P1 Gene

Nedd4 family interacting protein 1 pseudogene 1

ITPRIP Gene

inositol 1,4,5-trisphosphate receptor interacting protein

This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

ARFIP1 Gene

ADP-ribosylation factor interacting protein 1

ARFIP2 Gene

ADP-ribosylation factor interacting protein 2

BNIP3P8 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 8

BNIP3P5 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 5

BNIP3P4 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 4

BNIP3P6 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 6

BNIP3P1 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1

BNIP3P3 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 3

BNIP3P2 Gene

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 2

ATF7IP Gene

activating transcription factor 7 interacting protein

ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]

PRKRIP1 Gene

PRKR interacting protein 1 (IL11 inducible)

RBMS1 Gene

RNA binding motif, single stranded interacting protein 1

This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]

RBMS3 Gene

RNA binding motif, single stranded interacting protein 3

This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

RBMS2 Gene

RNA binding motif, single stranded interacting protein 2

The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008]

NPIPB3 Gene

nuclear pore complex interacting protein family, member B3

NPIPB4 Gene

nuclear pore complex interacting protein family, member B4

NPIPB7 Gene

nuclear pore complex interacting protein family, member B7

NPIPB6 Gene

nuclear pore complex interacting protein family, member B6

NPIPB8 Gene

nuclear pore complex interacting protein family, member B8

STYX Gene

serine/threonine/tyrosine interacting protein

The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011]

LOC100128738 Gene

leucine rich repeat (in FLII) interacting protein 2 pseudogene

TOR1AIP2 Gene

torsin A interacting protein 2

TOR1AIP1 Gene

torsin A interacting protein 1

This gene encodes a type 2 integral membrane protein that binds A- and B-type laminins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

AIMP2 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq, Jul 2008]

AIMP1 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1

The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]

LOC102725157 Gene

nuclear pore complex-interacting protein family member B5-like

LOC728989 Gene

phosphodiesterase 4D interacting protein pseudogene

CINP Gene

cyclin-dependent kinase 2 interacting protein

The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. [provided by RefSeq, Jul 2013]

PDCD6IP Gene

programmed cell death 6 interacting protein

This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]

ENKUR Gene

enkurin, TRPC channel interacting protein

This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

HIP1R Gene

huntingtin interacting protein 1 related

ATRIP Gene

ATR interacting protein

This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

RLIM Gene

ring finger protein, LIM domain interacting

The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

IKBIP Gene

IKBKB interacting protein

LOC100421269 Gene

phosphodiesterase 4D interacting protein pseudogene

LOC729978 Gene

nuclear pore complex interacting protein pseudogene

BCCIP Gene

BRCA2 and CDKN1A interacting protein

This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

DIP2A Gene

DIP2 disco-interacting protein 2 homolog A (Drosophila)

The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

DIP2B Gene

DIP2 disco-interacting protein 2 homolog B (Drosophila)

This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]

DIP2C Gene

DIP2 disco-interacting protein 2 homolog C (Drosophila)

This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]

PHIP Gene

pleckstrin homology domain interacting protein

PHIP binds the pleckstrin homology (PH) domain of insulin receptor substrate-1 (IRS1; MIM 147545), modulates insulin signaling, and plays a role in pancreatic beta cell growth and survival (Farhang-Fallah et al., 2000 [PubMed 11018022]; Podcheko et al., 2007 [PubMed 17636024]).[supplied by OMIM, Jun 2009]

LOC100125393 Gene

TIMELESS interacting protein pseudogene

LOC100125392 Gene

TIMELESS interacting protein pseudogene

RBMS2P1 Gene

RNA binding motif, single stranded interacting protein 2 pseudogene 1

NCKIPSD Gene

NCK interacting protein with SH3 domain

The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

LOC100129957 Gene

PC4 and SFRS1 interacting protein 1 pseudogene

NIN Gene

ninein (GSK3B interacting protein)

This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]

LOC105371186 Gene

nuclear pore complex-interacting protein family member A5-like

LOC105371189 Gene

nuclear pore complex-interacting protein family member B9-like

LRIF1 Gene

ligand dependent nuclear receptor interacting factor 1

OBSCN Gene

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

NKAIN4 Gene

Na+/K+ transporting ATPase interacting 4

NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

NKAIN3 Gene

Na+/K+ transporting ATPase interacting 3

NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

NKAIN2 Gene

Na+/K+ transporting ATPase interacting 2

This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

NKAIN1 Gene

Na+/K+ transporting ATPase interacting 1

NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

KIDINS220 Gene

kinase D-interacting substrate, 220kDa

LOC100129274 Gene

NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) pseudogene

CITED1 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1

This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

CITED4 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4

The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011]

RIPK1 Gene

receptor (TNFRSF)-interacting serine-threonine kinase 1

RIPK3 Gene

receptor-interacting serine-threonine kinase 3

The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]

RIPK2 Gene

receptor-interacting serine-threonine kinase 2

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]

PIRC94 Gene

piwi-interacting RNA cluster 94

PIRC97 Gene

piwi-interacting RNA cluster 97

PIRC99 Gene

piwi-interacting RNA cluster 99

PIRC98 Gene

piwi-interacting RNA cluster 98

NKIRAS2 Gene

NFKB inhibitor interacting Ras-like 2

NKIRAS1 Gene

NFKB inhibitor interacting Ras-like 1

PIRC19 Gene

piwi-interacting RNA cluster 19

PIRC18 Gene

piwi-interacting RNA cluster 18

PIRC15 Gene

piwi-interacting RNA cluster 15

PIRC14 Gene

piwi-interacting RNA cluster 14

PIRC17 Gene

piwi-interacting RNA cluster 17

PIRC16 Gene

piwi-interacting RNA cluster 16

PIRC11 Gene

piwi-interacting RNA cluster 11

PIRC10 Gene

piwi-interacting RNA cluster 10

PIRC13 Gene

piwi-interacting RNA cluster 13

PIRC12 Gene

piwi-interacting RNA cluster 12

TNKS2 Gene

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2

PIRC96 Gene

piwi-interacting RNA cluster 96

PIRC91 Gene

piwi-interacting RNA cluster 91

TICRR Gene

TOPBP1-interacting checkpoint and replication regulator

Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]

CIR1P1 Gene

corepressor interacting with RBPJ, 1 pseudogene 1

CIR1P2 Gene

corepressor interacting with RBPJ, 1 pseudogene 2

MKNK2 Gene

MAP kinase interacting serine/threonine kinase 2

This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011]

MKNK1 Gene

MAP kinase interacting serine/threonine kinase 1

This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012]

PIRC105 Gene

piwi-interacting RNA cluster 105

LIME1 Gene

Lck interacting transmembrane adaptor 1

This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]

PINX1 Gene

PIN2/TERF1 interacting, telomerase inhibitor 1

LOC100287965 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene

NIF3L1 Gene

NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)

NKAIN1P1 Gene

Na+/K+ transporting ATPase interacting 1 pseudogene 1

TNNI3K Gene

TNNI3 interacting kinase

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]

PIN1P1 Gene

peptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1

CIPC Gene

CLOCK-interacting pacemaker

TERF1P1 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 1

TERF1P3 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 3

TERF1P2 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 2

TERF1P5 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 5

TERF1P4 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 4

RABIF Gene

RAB interacting factor

This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011]

PIRC64 Gene

piwi-interacting RNA cluster 64

PIRC62 Gene

piwi-interacting RNA cluster 62

PIRC20 Gene

piwi-interacting RNA cluster 20

PIRC23 Gene

piwi-interacting RNA cluster 23

PIRC26 Gene

piwi-interacting RNA cluster 26

CITED2 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

PIRC90 Gene

piwi-interacting RNA cluster 90

EID2B Gene

EP300 interacting inhibitor of differentiation 2B

PIRC37 Gene

piwi-interacting RNA cluster 37

PIRC35 Gene

piwi-interacting RNA cluster 35

PIRC34 Gene

piwi-interacting RNA cluster 34

PIRC33 Gene

piwi-interacting RNA cluster 33

PIRC32 Gene

piwi-interacting RNA cluster 32

PIRC31 Gene

piwi-interacting RNA cluster 31

PIRC30 Gene

piwi-interacting RNA cluster 30

PIRC39 Gene

piwi-interacting RNA cluster 39

PIRC38 Gene

piwi-interacting RNA cluster 38

PIN1 Gene

peptidylprolyl cis/trans isomerase, NIMA-interacting 1

Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]

PIN4 Gene

peptidylprolyl cis/trans isomerase, NIMA-interacting 4

This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009]

PIRC111 Gene

piwi-interacting RNA cluster 111

PIRC110 Gene

piwi-interacting RNA cluster 110

PIRC113 Gene

piwi-interacting RNA cluster 113

PIRC112 Gene

piwi-interacting RNA cluster 112

PIRC114 Gene

piwi-interacting RNA cluster 114

PIRC65 Gene

piwi-interacting RNA cluster 65

PIRC86 Gene

piwi-interacting RNA cluster 86

PIRC87 Gene

piwi-interacting RNA cluster 87

PIRC84 Gene

piwi-interacting RNA cluster 84

PIRC85 Gene

piwi-interacting RNA cluster 85

PIRC80 Gene

piwi-interacting RNA cluster 80

PIRC88 Gene

piwi-interacting RNA cluster 88

LOC100462648 Gene

Na+/K+ transporting ATPase interacting 1 pseudogene

CIR1 Gene

corepressor interacting with RBPJ, 1

STYXL1 Gene

serine/threonine/tyrosine interacting-like 1

SIMC1 Gene

SUMO-interacting motifs containing 1

PIRC83 Gene

piwi-interacting RNA cluster 83

PIRC81 Gene

piwi-interacting RNA cluster 81

PIRC89 Gene

piwi-interacting RNA cluster 89

TERF1 Gene

telomeric repeat binding factor (NIMA-interacting) 1

This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]

ERC1 Gene

ELKS/RAB6-interacting/CAST family member 1

The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ERC2 Gene

ELKS/RAB6-interacting/CAST family member 2

YIF1B Gene

Yip1 interacting factor homolog B (S. cerevisiae)

YIF1A Gene

Yip1 interacting factor homolog A (S. cerevisiae)

PIRC68 Gene

piwi-interacting RNA cluster 68

PIRC53 Gene

piwi-interacting RNA cluster 53

LOC202181 Gene

SUMO-interacting motifs containing 1 pseudogene

CIT Gene

citron rho-interacting serine/threonine kinase

This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

NKILA Gene

NF-kappaB interacting long non-coding RNA

PIRC54 Gene

piwi-interacting RNA cluster 54

PIRC59 Gene

piwi-interacting RNA cluster 59

PIRC58 Gene

piwi-interacting RNA cluster 58

MITD1 Gene

MIT, microtubule interacting and transport, domain containing 1

PIRC51 Gene

piwi-interacting RNA cluster 51

PIRC50 Gene

piwi-interacting RNA cluster 50

PIRC52 Gene

piwi-interacting RNA cluster 52

PIRC55 Gene

piwi-interacting RNA cluster 55

PIRC57 Gene

piwi-interacting RNA cluster 57

PIRC56 Gene

piwi-interacting RNA cluster 56

RITA1 Gene

RBPJ interacting and tubulin associated 1

MKNK2P1 Gene

MAP kinase interacting serine/threonine kinase 2 pseudogene 1

PIRC8 Gene

piwi-interacting RNA cluster 8

DUSP11 Gene

dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)

The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 2008]

LOC100421742 Gene

NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)

PIRC95 Gene

piwi-interacting RNA cluster 95

USF2 Gene

upstream transcription factor 2, c-fos interacting

This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

PIRC93 Gene

piwi-interacting RNA cluster 93

PIRC92 Gene

piwi-interacting RNA cluster 92

PIRC69 Gene

piwi-interacting RNA cluster 69

PIRC66 Gene

piwi-interacting RNA cluster 66

PIRC67 Gene

piwi-interacting RNA cluster 67

PIRC60 Gene

piwi-interacting RNA cluster 60

PIRC61 Gene

piwi-interacting RNA cluster 61

PIRC63 Gene

piwi-interacting RNA cluster 63

TNKS Gene

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase

FIP1L1 Gene

factor interacting with PAPOLA and CPSF1

This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

SYBU Gene

syntabulin (syntaxin-interacting)

Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]

PIRC36 Gene

piwi-interacting RNA cluster 36

PIRC28 Gene

piwi-interacting RNA cluster 28

PIRC29 Gene

piwi-interacting RNA cluster 29

PIRC21 Gene

piwi-interacting RNA cluster 21

PIRC22 Gene

piwi-interacting RNA cluster 22

PIRC24 Gene

piwi-interacting RNA cluster 24

PIRC25 Gene

piwi-interacting RNA cluster 25

PIRC27 Gene

piwi-interacting RNA cluster 27

WIPI2 Gene

WD repeat domain, phosphoinositide interacting 2

WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]

WIPI1 Gene

WD repeat domain, phosphoinositide interacting 1

WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI1, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]

VIMP Gene

VCP-interacting membrane selenoprotein

This gene encodes a member of the selenoprotein family, characterized by a selenocysteine (Sec) residue at the active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies suggest that this protein may regulate cytokine production, and thus play a key role in the control of the inflammatory response. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

PIRC79 Gene

piwi-interacting RNA cluster 79

PIRC78 Gene

piwi-interacting RNA cluster 78

PIRC71 Gene

piwi-interacting RNA cluster 71

PIRC70 Gene

piwi-interacting RNA cluster 70

TINF2 Gene

TERF1 (TRF1)-interacting nuclear factor 2

This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]

BIK Gene

BCL2-interacting killer (apoptosis-inducing)

The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]

BID Gene

BH3 interacting domain death agonist

This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

PIRC9 Gene

piwi-interacting RNA cluster 9

PIRC5 Gene

piwi-interacting RNA cluster 5

PIRC1 Gene

piwi-interacting RNA cluster 1

PIRC3 Gene

piwi-interacting RNA cluster 3

PIRC2 Gene

piwi-interacting RNA cluster 2

PIRC48 Gene

piwi-interacting RNA cluster 48

PIRC49 Gene

piwi-interacting RNA cluster 49

EID2 Gene

EP300 interacting inhibitor of differentiation 2

EID3 Gene

EP300 interacting inhibitor of differentiation 3

EID1 Gene

EP300 interacting inhibitor of differentiation 1

PIRC73 Gene

piwi-interacting RNA cluster 73

PIRC72 Gene

piwi-interacting RNA cluster 72

PIRC77 Gene

piwi-interacting RNA cluster 77

PIRC76 Gene

piwi-interacting RNA cluster 76

PIRC75 Gene

piwi-interacting RNA cluster 75

PIRC74 Gene

piwi-interacting RNA cluster 74

LOC100128588 Gene

PIN2/TERF1 interacting, telomerase inhibitor 1 pseudogene

FIZ1 Gene

FLT3-interacting zinc finger 1

This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]

TARM1 Gene

T cell-interacting, activating receptor on myeloid cells 1

PIRC4 Gene

piwi-interacting RNA cluster 4

PIRC7 Gene

piwi-interacting RNA cluster 7

PIRC6 Gene

piwi-interacting RNA cluster 6

PDIK1L Gene

PDLIM1 interacting kinase 1 like

RHNO1 Gene

RAD9-HUS1-RAD1 interacting nuclear orphan 1

TNIK Gene

TRAF2 and NCK interacting kinase

Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM, Mar 2008]

PIRT Gene

phosphoinositide-interacting regulator of transient receptor potential channels

PIRC42 Gene

piwi-interacting RNA cluster 42

PIRC43 Gene

piwi-interacting RNA cluster 43

PIRC40 Gene

piwi-interacting RNA cluster 40

PIRC41 Gene

piwi-interacting RNA cluster 41

PIRC46 Gene

piwi-interacting RNA cluster 46

PIRC47 Gene

piwi-interacting RNA cluster 47

PIRC44 Gene

piwi-interacting RNA cluster 44

PIRC45 Gene

piwi-interacting RNA cluster 45

PIRC100 Gene

piwi-interacting RNA cluster 100

PITHD1 Gene

PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1

PIRC107 Gene

piwi-interacting RNA cluster 107

RIPK4 Gene

receptor-interacting serine-threonine kinase 4

The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]

GORAB Gene

golgin, RAB6-interacting

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

PIRC82 Gene

piwi-interacting RNA cluster 82

PIRC106 Gene

piwi-interacting RNA cluster 106

PIRC104 Gene

piwi-interacting RNA cluster 104

PIRC102 Gene

piwi-interacting RNA cluster 102

PIRC103 Gene

piwi-interacting RNA cluster 103

PIRC101 Gene

piwi-interacting RNA cluster 101

PIRC108 Gene

piwi-interacting RNA cluster 108

PIRC109 Gene

piwi-interacting RNA cluster 109

TP53I3 Gene

tumor protein p53 inducible protein 3

The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

LOC100288073 Gene

heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) pseudogene

G3BP1 Gene

GTPase activating protein (SH3 domain) binding protein 1

This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

RASA1 Gene

RAS p21 protein activator (GTPase activating protein) 1

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]

LOC644909 Gene

ligand of numb-protein X 1, E3 ubiquitin protein ligase pseudogene

MYCBP2 Gene

MYC binding protein 2, E3 ubiquitin protein ligase

MAPKAPK5 Gene

mitogen-activated protein kinase-activated protein kinase 5

The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]

MAPKAPK3 Gene

mitogen-activated protein kinase-activated protein kinase 3

This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

MAPKAPK2 Gene

mitogen-activated protein kinase-activated protein kinase 2

This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GNG5P4 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 4

TP53I11 Gene

tumor protein p53 inducible protein 11

RNF128 Gene

ring finger protein 128, E3 ubiquitin protein ligase

The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

RNF125 Gene

ring finger protein 125, E3 ubiquitin protein ligase

This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]

GNG10P1 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene 1

GNG5P1 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1

GNG5P3 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3

GNG5P2 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2

GNG5P5 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5

TP53I13 Gene

tumor protein p53 inducible protein 13

PTPRCAP Gene

protein tyrosine phosphatase, receptor type, C-associated protein

The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008]

LOC101927789 Gene

putative ubiquitin-like protein FUBI-like protein ENSP00000310146

MAPKBP1 Gene

mitogen-activated protein kinase binding protein 1

GNB2L1 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1

TP53BP1 Gene

tumor protein p53 binding protein 1

TP53BP2 Gene

tumor protein p53 binding protein 2

This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC346329 Gene

guanine nucleotide binding protein (G protein), alpha 11 (Gq class) pseudogene

RNF138P1 Gene

ring finger protein 138, E3 ubiquitin protein ligase pseudogene 1

LRPAP1 Gene

low density lipoprotein receptor-related protein associated protein 1

This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LOC100287794 Gene

double homeobox protein 4-like protein 4

GNA14 Gene

guanine nucleotide binding protein (G protein), alpha 14

This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]

GNA15 Gene

guanine nucleotide binding protein (G protein), alpha 15 (Gq class)

GNA12 Gene

guanine nucleotide binding protein (G protein) alpha 12

GNA13 Gene

guanine nucleotide binding protein (G protein), alpha 13

GNA11 Gene

guanine nucleotide binding protein (G protein), alpha 11 (Gq class)

The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]

PRKCDBP Gene

protein kinase C, delta binding protein

The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]

TP53AIP1 Gene

tumor protein p53 regulated apoptosis inducing protein 1

This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

RNF19A Gene

ring finger protein 19A, RBR E3 ubiquitin protein ligase

This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GNG7 Gene

guanine nucleotide binding protein (G protein), gamma 7

GNG4 Gene

guanine nucleotide binding protein (G protein), gamma 4

GNG5 Gene

guanine nucleotide binding protein (G protein), gamma 5

G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]

GNG2 Gene

guanine nucleotide binding protein (G protein), gamma 2

This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]

GNG3 Gene

guanine nucleotide binding protein (G protein), gamma 3

Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]

GNG8 Gene

guanine nucleotide binding protein (G protein), gamma 8

LOC101930078 Gene

double homeobox protein 4-like protein 4

VAPB Gene

VAMP (vesicle-associated membrane protein)-associated protein B and C

The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

VAPA Gene

VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa

The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

SKP2 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]

LOC101060346 Gene

T-complex protein 11 X-linked protein 2-like

LCP2 Gene

lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)

SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. [provided by RefSeq, Jul 2008]

GNAQP1 Gene

guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1

LOC105373377 Gene

putative paraneoplastic antigen-like protein 6B-like protein LOC649238

GNB5 Gene

guanine nucleotide binding protein (G protein), beta 5

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

GNB4 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 4

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

GNB1 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 1

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GNB3 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 3

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]

GNB2 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

GPRASP2 Gene

G protein-coupled receptor associated sorting protein 2

The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GPRASP1 Gene

G protein-coupled receptor associated sorting protein 1

This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]

GNAI2P2 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2

GNAI2P1 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1

TP53BP2P1 Gene

tumor protein p53 binding protein 2 pseudogene 1

RNF138P2 Gene

ring finger protein 138, E3 ubiquitin protein ligase pseudogene 2

LOC648044 Gene

guanine nucleotide binding protein (G protein), gamma 12-like

MAP3K1 Gene

mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase

The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]

APPBP2 Gene

amyloid beta precursor protein (cytoplasmic tail) binding protein 2

The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

RAMP1 Gene

receptor (G protein-coupled) activity modifying protein 1

The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

RAMP3 Gene

receptor (G protein-coupled) activity modifying protein 3

The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]

RAMP2 Gene

receptor (G protein-coupled) activity modifying protein 2

The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]

TP53INP1 Gene

tumor protein p53 inducible nuclear protein 1

TP53INP2 Gene

tumor protein p53 inducible nuclear protein 2

RNF34 Gene

ring finger protein 34, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

TP53COR1 Gene

tumor protein p53 pathway corepressor 1 (non-protein coding)

LOC100130500 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase pseudogene

RNF138 Gene

ring finger protein 138, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

GNAQ Gene

guanine nucleotide binding protein (G protein), q polypeptide

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

GNAZ Gene

guanine nucleotide binding protein (G protein), alpha z polypeptide

The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]

GNAL Gene

guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type

This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

RNF8 Gene

ring finger protein 8, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

RNF5 Gene

ring finger protein 5, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]

TMEM129 Gene

transmembrane protein 129, E3 ubiquitin protein ligase

RNF5P1 Gene

ring finger protein 5, E3 ubiquitin protein ligase pseudogene 1

GNG10 Gene

guanine nucleotide binding protein (G protein), gamma 10

GNG11 Gene

guanine nucleotide binding protein (G protein), gamma 11

This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]

GNG12 Gene

guanine nucleotide binding protein (G protein), gamma 12

GNG13 Gene

guanine nucleotide binding protein (G protein), gamma 13

Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]

ELK3 Gene

ELK3, ETS-domain protein (SRF accessory protein 2)

This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

ELK4 Gene

ELK4, ETS-domain protein (SRF accessory protein 1)

This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

GNAO1 Gene

guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O

GNAT1 Gene

guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

GNAT2 Gene

guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

LOC391465 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase pseudogene

LOC105372731 Gene

CMT1A duplicated region transcript 15 protein-like protein

LOC100422438 Gene

mitogen-activated protein kinase-activated protein kinase 2 pseudogene

HP1BP3 Gene

heterochromatin protein 1, binding protein 3

RNF41 Gene

ring finger protein 41, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

LOC102724961 Gene

double homeobox protein 4-like protein 4

RPS19BP1 Gene

ribosomal protein S19 binding protein 1

RNF168 Gene

ring finger protein 168, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]

G3BP2 Gene

GTPase activating protein (SH3 domain) binding protein 2

RGS7BP Gene

regulator of G-protein signaling 7 binding protein

This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

LNX1 Gene

ligand of numb-protein X 1, E3 ubiquitin protein ligase

This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]

NAB1 Gene

NGFI-A binding protein 1 (EGR1 binding protein 1)

NAB2 Gene

NGFI-A binding protein 2 (EGR1 binding protein 2)

This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

LOC100289060 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene

MAPKAPK5P1 Gene

mitogen-activated protein kinase-activated protein kinase 5 pseudogene 1

CSRP3 Gene

cysteine and glycine-rich protein 3 (cardiac LIM protein)

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

SERPINH1 Gene

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

LOC105374753 Gene

class E vacuolar protein-sorting machinery protein hse1-like

RGS9BP Gene

regulator of G protein signaling 9 binding protein

The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010]

LOC100287954 Gene

double homeobox protein 4-like protein 4

LOC653503 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene

GNAI2 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2

The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

GNAI3 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]

GNAI1 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1

Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

MAPKAP1 Gene

mitogen-activated protein kinase associated protein 1

This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]

RNF40 Gene

ring finger protein 40, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

LOC100422559 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

LOC100287823 Gene

double homeobox protein 4-like protein 4

RNF20 Gene

ring finger protein 20, E3 ubiquitin protein ligase

The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012]

LOC100422338 Gene

GTPase activating protein (SH3 domain) binding protein 1 pseudogene

LOC100422337 Gene

guanine nucleotide binding protein (G protein), alpha 13 pseudogene

GNB1L Gene

guanine nucleotide binding protein (G protein), beta polypeptide 1-like

This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]

HSPA5 Gene

heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)

The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010]

LOC100422561 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

LOC100422562 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

LOC400750 Gene

heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) pseudogene

AP1AR Gene

adaptor-related protein complex 1 associated regulatory protein

LOC286456 Gene

NGFI-A binding protein 1 (EGR1 binding protein 1) pseudogene

STUB1 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

TYROBP Gene

TYRO protein tyrosine kinase binding protein

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]

GNGT2 Gene

guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2

Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]

GNGT1 Gene

guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1

Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of transducin (Hurley et al., 1984 [PubMed 6438626]; Scherer et al., 1996 [PubMed 8661128]).[supplied by OMIM, Mar 2008]

LOC102724602 Gene

COMM domain-containing protein 6-like

CHMP1B Gene

charged multivesicular body protein 1B

CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

LOC643630 Gene

ribosomal protein L7a pseudogene

NSRP1 Gene

nuclear speckle splicing regulatory protein 1

LINC01221 Gene

long intergenic non-protein coding RNA 1221

RPS4XP3 Gene

ribosomal protein S4X pseudogene 3

RPS4XP1 Gene

ribosomal protein S4X pseudogene 1

RPS4XP6 Gene

ribosomal protein S4X pseudogene 6

RPS4XP7 Gene

ribosomal protein S4X pseudogene 7

RPS4XP4 Gene

ribosomal protein S4X pseudogene 4

BCL2A1 Gene

BCL2-related protein A1

This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RPS4XP8 Gene

ribosomal protein S4X pseudogene 8

RPS4XP9 Gene

ribosomal protein S4X pseudogene 9

LOC101928959 Gene

probable ribosome biogenesis protein RLP24 pseudogene

CKS1B Gene

CDC28 protein kinase regulatory subunit 1B

CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]

RPL31P13 Gene

ribosomal protein L31 pseudogene 13

CRTAP Gene

cartilage associated protein

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]

HPYR1 Gene

Helicobacter pylori responsive 1 (non-protein coding)

CPEB4 Gene

cytoplasmic polyadenylation element binding protein 4

CPEB1 Gene

cytoplasmic polyadenylation element binding protein 1

This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

CPEB3 Gene

cytoplasmic polyadenylation element binding protein 3

CPEB2 Gene

cytoplasmic polyadenylation element binding protein 2

The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LOC105379427 Gene

zinc finger protein 717-like

LOC649935 Gene

UPF0607 protein ENSP00000381514-like

LINC01227 Gene

long intergenic non-protein coding RNA 1227

LOC100131241 Gene

SERPINE1 mRNA binding protein 1 pseudogene

PISRT1 Gene

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

LOC101927006 Gene

40S ribosomal protein SA-like

AAGAB Gene

alpha- and gamma-adaptin binding protein

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

LOC101060569 Gene

golgin subfamily A member 6-like protein 1

LOC442041 Gene

zinc finger protein 532 pseudogene

RFPL4AL1 Gene

ret finger protein-like 4A-like 1

LOC100419140 Gene

ribosomal protein L5 pseudogene

RPL12P31 Gene

ribosomal protein L12 pseudogene 31

LOC391600 Gene

transmembrane epididymal protein 1 pseudogene

MRPS31P4 Gene

mitochondrial ribosomal protein S31 pseudogene 4

LOC100287243 Gene

nuclease-sensitive element-binding protein 1 pseudogene

ZNF117 Gene

zinc finger protein 117

ZNF114 Gene

zinc finger protein 114

ZNF112 Gene

zinc finger protein 112

PRKAR2A Gene

protein kinase, cAMP-dependent, regulatory, type II, alpha

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]

PRKAR2B Gene

protein kinase, cAMP-dependent, regulatory, type II, beta

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]

TMEM200B Gene

transmembrane protein 200B

RPL12P36 Gene

ribosomal protein L12 pseudogene 36

LOC100420186 Gene

WW domain binding protein 2 pseudogene

KRTAP2-3 Gene

keratin associated protein 2-3

KRTAP2-2 Gene

keratin associated protein 2-2

KRTAP2-1 Gene

keratin associated protein 2-1

KRTAP2-4 Gene

keratin associated protein 2-4

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

RPL12P38 Gene

ribosomal protein L12 pseudogene 38

ZNF736P3Y Gene

zinc finger protein 736 pseudogene 3, Y-linked

VMP1 Gene

vacuole membrane protein 1

LOC100420828 Gene

nuclear pore associated protein 1 pseudogene

RPS26P43 Gene

ribosomal protein S26 pseudogene 43

RPS26P42 Gene

ribosomal protein S26 pseudogene 42

RPS26P41 Gene

ribosomal protein S26 pseudogene 41

RPS26P40 Gene

ribosomal protein S26 pseudogene 40

RPS26P47 Gene

ribosomal protein S26 pseudogene 47

RPS26P46 Gene

ribosomal protein S26 pseudogene 46

RPS26P45 Gene

ribosomal protein S26 pseudogene 45

RPS26P44 Gene

ribosomal protein S26 pseudogene 44

RPS26P49 Gene

ribosomal protein S26 pseudogene 49

RPS26P48 Gene

ribosomal protein S26 pseudogene 48

FAM90A10P Gene

putative protein FAM90A10

FAM90A10 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

LOC389842 Gene

RAN binding protein 1 pseudogene

DLGAP2 Gene

discs, large (Drosophila) homolog-associated protein 2

The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]

DLGAP3 Gene

discs, large (Drosophila) homolog-associated protein 3

DLGAP1 Gene

discs, large (Drosophila) homolog-associated protein 1

DLGAP4 Gene

discs, large (Drosophila) homolog-associated protein 4

The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DLGAP5 Gene

discs, large (Drosophila) homolog-associated protein 5

FBXL14 Gene

F-box and leucine-rich repeat protein 14

Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL19 Gene

F-box and leucine-rich repeat protein 19

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

LOC100421559 Gene

adaptor-related protein complex 5, mu 1 subunit pseudogene

PTPN18 Gene

protein tyrosine phosphatase, non-receptor type 18 (brain-derived)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

PTPN13 Gene

protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]

PTPN12 Gene

protein tyrosine phosphatase, non-receptor type 12

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

PTPN11 Gene

protein tyrosine phosphatase, non-receptor type 11

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

RPL32P35 Gene

ribosomal protein L32 pseudogene 35

RPL32P32 Gene

ribosomal protein L32 pseudogene 32

RPL32P33 Gene

ribosomal protein L32 pseudogene 33

RPL32P30 Gene

ribosomal protein L32 pseudogene 30

PTPN14 Gene

protein tyrosine phosphatase, non-receptor type 14

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

TRAPPC6A Gene

trafficking protein particle complex 6A

This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

MZB1 Gene

marginal zone B and B1 cell-specific protein

TRAPPC6B Gene

trafficking protein particle complex 6B

TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]

HSPE1P16 Gene

heat shock 10kDa protein 1 pseudogene 16

HSPE1P12 Gene

heat shock 10kDa protein 1 pseudogene 12

RPL23AP29 Gene

ribosomal protein L23a pseudogene 29

HSPE1P10 Gene

heat shock 10kDa protein 1 pseudogene 10

RPL23AP27 Gene

ribosomal protein L23a pseudogene 27

LOC105378958 Gene

adhesive plaque matrix protein-like

RPL23AP26 Gene

ribosomal protein L23a pseudogene 26

LOC105378957 Gene

basic salivary proline-rich protein 2-like

LOC105378955 Gene

tripartite motif-containing protein LOC642612

LOC105378950 Gene

mitogen-activated protein kinase 7-like

LOC100419801 Gene

zinc finger protein 532 pseudogene

RPL23AP23 Gene

ribosomal protein L23a pseudogene 23

LOC100419803 Gene

zinc finger protein 510 pseudogene

LOC100419802 Gene

zinc finger protein 184 pseudogene

LOC100419806 Gene

zinc finger protein 519 pseudogene

CAMKK2 Gene

calcium/calmodulin-dependent protein kinase kinase 2, beta

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]

CAMKK1 Gene

calcium/calmodulin-dependent protein kinase kinase 1, alpha

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

RPL23AP21 Gene

ribosomal protein L23a pseudogene 21

PPP1R1AP2 Gene

protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2

LOC102724970 Gene

putative uncharacterized protein FLJ35883

LOC102724971 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

CHMP3 Gene

charged multivesicular body protein 3

This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]

RPL36AL Gene

ribosomal protein L36a-like

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

CHMP7 Gene

charged multivesicular body protein 7

CHMP5 Gene

charged multivesicular body protein 5

CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

RPS4XP2 Gene

ribosomal protein S4X pseudogene 2

KRTAP11-1 Gene

keratin associated protein 11-1

LOC729468 Gene

putative PGM5-like protein 1

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

RPL35AP Gene

ribosomal protein L35a pseudogene

EBP Gene

emopamil binding protein (sterol isomerase)

The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]

LINC01091 Gene

long intergenic non-protein coding RNA 1091

LINC01090 Gene

long intergenic non-protein coding RNA 1090

LINC01093 Gene

long intergenic non-protein coding RNA 1093

LINC01095 Gene

long intergenic non-protein coding RNA 1095

LINC01094 Gene

long intergenic non-protein coding RNA 1094

LINC01097 Gene

long intergenic non-protein coding RNA 1097

LINC01096 Gene

long intergenic non-protein coding RNA 1096

LINC01098 Gene

long intergenic non-protein coding RNA 1098

PTPMT1 Gene

protein tyrosine phosphatase, mitochondrial 1

LINC00320 Gene

long intergenic non-protein coding RNA 320

LINC00323 Gene

long intergenic non-protein coding RNA 323

LINC00324 Gene

long intergenic non-protein coding RNA 324

LINC00326 Gene

long intergenic non-protein coding RNA 326

LINC00327 Gene

long intergenic non-protein coding RNA 327

LINC00328 Gene

long intergenic non-protein coding RNA 328

RAB3GAP2 Gene

RAB3 GTPase activating protein subunit 2 (non-catalytic)

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

RAB3GAP1 Gene

RAB3 GTPase activating protein subunit 1 (catalytic)

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

SGSM3 Gene

small G protein signaling modulator 3

RPL35P7 Gene

ribosomal protein L35 pseudogene 7

GGA1 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 1

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GGA3 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 3

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

GGA2 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 2

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

GJC2 Gene

gap junction protein, gamma 2, 47kDa

This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]

GJC3 Gene

gap junction protein, gamma 3, 30.2kDa

This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]

GJC1 Gene

gap junction protein, gamma 1, 45kDa

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

LMBR1L Gene

limb development membrane protein 1-like

ITM2BP1 Gene

integral membrane protein 2B pseudogene 1

FLJ90680 Gene

FLJ90680 protein

LTN1 Gene

listerin E3 ubiquitin protein ligase 1

Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]

VPS13D Gene

vacuolar protein sorting 13 homolog D (S. cerevisiae)

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]

VPS13A Gene

vacuolar protein sorting 13 homolog A (S. cerevisiae)

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

SH3KBP1 Gene

SH3-domain kinase binding protein 1

This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

VPS13C Gene

vacuolar protein sorting 13 homolog C (S. cerevisiae)

This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

VPS13B Gene

vacuolar protein sorting 13 homolog B (yeast)

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

LOC101929185 Gene

putative glycine-rich cell wall structural protein 1

TMEM160 Gene

transmembrane protein 160

TMEM163 Gene

transmembrane protein 163

TMEM165 Gene

transmembrane protein 165

This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

TMEM164 Gene

transmembrane protein 164

TMEM168 Gene

transmembrane protein 168

RPLP2P2 Gene

ribosomal protein, large, P2 pseudogene 2

SNAP91 Gene

synaptosomal-associated protein, 91kDa

LOC101926982 Gene

protein GVQW1-like

LOC101926984 Gene

putative uncharacterized protein FLJ43826

LOC101926986 Gene

glioma tumor suppressor candidate region gene 1 protein-like

LOC105371032 Gene

polyadenylate-binding protein 4 pseudogene

RPL15P3 Gene

ribosomal protein L15 pseudogene 3

RPL15P2 Gene

ribosomal protein L15 pseudogene 2

RPL15P1 Gene

ribosomal protein L15 pseudogene 1

RPL15P7 Gene

ribosomal protein L15 pseudogene 7

RPL15P6 Gene

ribosomal protein L15 pseudogene 6

RPL15P5 Gene

ribosomal protein L15 pseudogene 5

RPL15P4 Gene

ribosomal protein L15 pseudogene 4

RPL15P9 Gene

ribosomal protein L15 pseudogene 9

RPL15P8 Gene

ribosomal protein L15 pseudogene 8

LOC100271907 Gene

myotubularin related protein 7 pseudogene

LINC01215 Gene

long intergenic non-protein coding RNA 1215

LINC01214 Gene

long intergenic non-protein coding RNA 1214

SYCE1 Gene

synaptonemal complex central element protein 1

LINC00847 Gene

long intergenic non-protein coding RNA 847

RALBP1 Gene

ralA binding protein 1

RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]

ZNF831 Gene

zinc finger protein 831

ZNF830 Gene

zinc finger protein 830

ZNF835 Gene

zinc finger protein 835

ZNF837 Gene

zinc finger protein 837

ZNF836 Gene

zinc finger protein 836

ZNF839 Gene

zinc finger protein 839

MRPS24P1 Gene

mitochondrial ribosomal protein S24 pseudogene 1

LINC00849 Gene

long intergenic non-protein coding RNA 849

TSPY8 Gene

testis specific protein, Y-linked 8

ZPBP Gene

zona pellucida binding protein

ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]

TSPY2 Gene

testis specific protein, Y-linked 2

TSPY1 Gene

testis specific protein, Y-linked 1

The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Approximately 35 copies of this gene are present in humans, but only a single, nonfunctional orthologous gene is found in mouse. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

ITCH Gene

itchy E3 ubiquitin protein ligase

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

CHMP4A Gene

charged multivesicular body protein 4A

CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

CHMP4B Gene

charged multivesicular body protein 4B

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]

CHMP4C Gene

charged multivesicular body protein 4C

CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

COBLL1 Gene

cordon-bleu WH2 repeat protein-like 1

LOC100421595 Gene

thyroid hormone receptor associated protein 3 pseudogene

TMEM255B Gene

transmembrane protein 255B

TMEM255A Gene

transmembrane protein 255A

WBP2P1 Gene

WW domain binding protein 2 pseudogene 1

ZNF304 Gene

zinc finger protein 304

ZNF302 Gene

zinc finger protein 302

This gene encodes a member of the zinc-finger protein family. The encoded protein contains seven C2H2-type zinc fingers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014]

ZNF300 Gene

zinc finger protein 300

The protein encoded by this gene is a C2H2-type zinc finger DNA binding protein and likely transcriptional regulator. The function of this protein is not yet known. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

LOC100419755 Gene

zinc finger protein 426 pseudogene

PPP3CA Gene

protein phosphatase 3, catalytic subunit, alpha isozyme

PPP3CB Gene

protein phosphatase 3, catalytic subunit, beta isozyme

PPP3CC Gene

protein phosphatase 3, catalytic subunit, gamma isozyme

Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

RPL12 Gene

ribosomal protein L12

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

LOC359819 Gene

mitochondrial ribosomal protein L39 pseudogene

GACAT2 Gene

gastric cancer associated transcript 2 (non-protein coding)

GACAT1 Gene

gastric cancer associated transcript 1 (non-protein coding)

LOC347381 Gene

hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit pseudogene

RPL17P37 Gene

ribosomal protein L17 pseudogene 37

LINC01251 Gene

long intergenic non-protein coding RNA 1251

LINC01250 Gene

long intergenic non-protein coding RNA 1250

LINC01257 Gene

long intergenic non-protein coding RNA 1257

TIAL1 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1

The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]

FUBP3 Gene

far upstream element (FUSE) binding protein 3

FUBP1 Gene

far upstream element (FUSE) binding protein 1

The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3'-5' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

SAP30 Gene

Sin3A-associated protein, 30kDa

Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]

LOC100533903 Gene

ribosomal protein L3 pseudogene

LOC100533902 Gene

ribosomal protein L3 pseudogene

LOC100533900 Gene

ribosomal protein L3 pseudogene

RPL37P9 Gene

ribosomal protein L37 pseudogene 9

RPL37P8 Gene

ribosomal protein L37 pseudogene 8

PATL2 Gene

protein associated with topoisomerase II homolog 2 (yeast)

IL18RAP Gene

interleukin 18 receptor accessory protein

The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

TMEM167AP1 Gene

transmembrane protein 167A pseudogene 1

FKBP14 Gene

FK506 binding protein 14, 22 kDa

The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]

FKBP15 Gene

FK506 binding protein 15, 133kDa

FKBP10 Gene

FK506 binding protein 10, 65 kDa

The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]

FKBP11 Gene

FK506 binding protein 11, 19 kDa

FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]

FBXO10 Gene

F-box protein 10

Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquit