Name

NURSA Protein Complexes Dataset

From Nuclear Receptor Signaling Atlas

proteins identified in complexes isolated from cultured cells

NURSA Protein-Protein Interactions Dataset

From Nuclear Receptor Signaling Atlas

protein-protein interactions inferred from membership in complexes

RNU7-36P Gene

RNA, U7 small nuclear 36 pseudogene

CTD-3080P12.3 Gene

uncharacterized LOC101928857

RNU6-36P Gene

RNA, U6 small nuclear 36, pseudogene

CH17-340M24.3 Gene

uncharacterized protein BC009467

RNU7-32P Gene

RNA, U7 small nuclear 32 pseudogene

RNU7-33P Gene

RNA, U7 small nuclear 33 pseudogene

RNU6-39P Gene

RNA, U6 small nuclear 39, pseudogene

RNU7-38P Gene

RNA, U7 small nuclear 38 pseudogene

RNU7-30P Gene

RNA, U7 small nuclear 30 pseudogene

RNU6-31P Gene

RNA, U6 small nuclear 31, pseudogene

RNU7-35P Gene

RNA, U7 small nuclear 35 pseudogene

RNU6-34P Gene

RNA, U6 small nuclear 34, pseudogene

CH17-351M24.1 Gene

uncharacterized LOC644767

DUPXQ27.3Q28 Gene

Chromosome Xq27.3-q28 duplication syndrome

RNU7-37P Gene

RNA, U7 small nuclear 37 pseudogene

CTB-30L5.1 Gene

uncharacterized LOC102724339

RNU6-35P Gene

RNA, U6 small nuclear 35, pseudogene

CH17-360D5.1 Gene

neuropeptide Y receptor type 4-like

RNU7-34P Gene

RNA, U7 small nuclear 34 pseudogene

CTC-338M12.4 Gene

uncharacterized LOC101928649

RNU6-30P Gene

RNA, U6 small nuclear 30, pseudogene

CTB-3M24.3 Gene

uncharacterized LOC105379180

RNU7-39P Gene

RNA, U7 small nuclear 39 pseudogene

RNU7-31P Gene

RNA, U7 small nuclear 31 pseudogene

MIR7-3HG Gene

MIR7-3 host gene

RNU6-33P Gene

RNA, U6 small nuclear 33, pseudogene

CTRCT35 Gene

cataract, congenital nuclear, autosomal recessive

CTRCT34 Gene

Cataract, autosomal recessive congenital 3

CTRCT27 Gene

Cataract, congenital, nuclear progressive

CTPL1 Gene

cataract, pulverulent (autosomal recessive, early-onset)

ARCI9 Gene

Ichthyosis, congenital, autosomal recessive 9

ARCI7 Gene

Ichthyosis, congenital, autosomal recessive 7

MCOPCT1 Gene

cataract, congenital, with microphthalmia

CTRCT37 Gene

Cataract, congenital cerulean type, 5

CCA1 Gene

cataract, congenital, cerulean type, 1

CCT Gene

cataract, congenital, total

CCV Gene

cataract, congenital, Volkmann type

NYS2 Gene

nystagmus 2, congenital autosomal dominant

NYS3 Gene

nystagmus 3, congenital autosomal dominant

NYS4 Gene

nystagmus 4, congenital autosomal dominant

PTOS1 Gene

ptosis, congenital 1 (autosomal dominant)

OPA6 Gene

optic atrophy 6 (autosomal recessive)

OPA3 Gene

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

SPG27 Gene

spastic paraplegia 27 (autosomal recessive)

SPG25 Gene

spastic paraplegia 25 (autosomal recessive, with disc herniation)

SPG24 Gene

spastic paraplegia 24 (autosomal recessive)

SPG21 Gene

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

SPG23 Gene

spastic paraplegia 23 (autosomal recessive)

MRT28 Gene

mental retardation, non-syndromic, autosomal recessive, 28

MRT29 Gene

Mental retardation, autosomal recessive 29

MRT24 Gene

mental retardation, non-syndromic, autosomal recessive, 24

MRT23 Gene

mental retardation, non-syndromic, autosomal recessive, 23

DFNB45 Gene

deafness, autosomal recessive 45

MRT10 Gene

mental retardation, non-syndromic, autosomal recessive, 10

DFNB20 Gene

deafness, autosomal recessive 20

DFNB26 Gene

deafness, autosomal recessive 26

DFNB27 Gene

deafness, autosomal recessive 27

MYP18 Gene

myopia 18 (high grade, autosomal recessive)

This locus was identified by linkage in one consanguineous Chinese family to lie between D14S984 and D14S999. [provided by RefSeq, Feb 2010]

CMR2A Gene

cardiomyopathy, restrictive 2A (autosomal recessive)

HOAC Gene

hypoacusis 2 (autosomal recessive)

MRT17 Gene

mental retardation, non-syndromic, autosomal recessive, 17

MRT16 Gene

Mental retardation, autosomal recessive 16

MRT11 Gene

mental retardation, non-syndromic, autosomal recessive, 11

MRT19 Gene

mental retardation, non-syndromic, autosomal recessive, 19

DFNB75 Gene

deafness, autosomal recessive 75

SCAR2 Gene

spinocerebellar ataxia, autosomal recessive 2

SCAR3 Gene

spinocerebellar ataxia, autosomal recessive 3

DFNB81 Gene

deafness, autosomal recessive 81

MRT8 Gene

mental retardation, non-syndromic, autosomal recessive, 8

MRT9 Gene

mental retardation, non-syndromic, autosomal recessive, 9

PKHD1L1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

SPG45 Gene

spastic paraplegia 45 (autosomal recessive)

SPG7 Gene

spastic paraplegia 7 (pure and complicated autosomal recessive)

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

DFNB62 Gene

deafness, autosomal recessive 62

DFNB60 Gene

deafness, autosomal recessive 60

DFNB68 Gene

deafness, autosomal recessive 68

DFNB69 Gene

deafness, autosomal recessive 69

SPG11 Gene

spastic paraplegia 11 (autosomal recessive)

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

DYT2 Gene

dystonia 2, torsion (autosomal recessive)

MRT25 Gene

mental retardation, non-syndromic, autosomal recessive, 25

MRT4 Gene

mental retardation, non-syndromic, autosomal recessive, 4

DFNB85 Gene

deafness, autosomal recessive 85

This locus was defined by homozygosity mapping in a kindred of 42 enrolled individuals, between FAM18B2 and NF1. [provided by RefSeq, Feb 2010]

DFNB83 Gene

deafness, autosomal recessive 83

This locus, identified by homozygosity mapping, overlaps that of DFNA47. It may be that mutations of the same gene are responsible for recessive and dominant hearing loss. [provided by RefSeq, Feb 2010]

SPG14 Gene

spastic paraplegia 14 (autosomal recessive)

USH2A Gene

Usher syndrome 2A (autosomal recessive, mild)

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

MRT33 Gene

Mental retardation, autosomal recessive 33

MRT32 Gene

Mental retardation, autosomal recessive 32

MRT31 Gene

Mental retardation, autosomal recessive 31

MRT30 Gene

Mental retardation, autosomal recessive 30

MRT35 Gene

Mental retardation, autosomal recessive 35

MRT27 Gene

mental retardation, non-syndromic, autosomal recessive, 27

DFNB59 Gene

deafness, autosomal recessive 59

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]

DFNB57 Gene

deafness, autosomal recessive 57

DFNB56 Gene

deafness, autosomal recessive 56

DFNB55 Gene

deafness, autosomal recessive 55

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

RP22 Gene

retinitis pigmentosa 22 (autosomal recessive)

RP29 Gene

retinitis pigmentosa 29 (autosomal recessive)

MHB Gene

myopathy, hyaline body, autosomal recessive

CIRH1A Gene

cirrhosis, autosomal recessive 1A (cirhin)

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq, Jul 2008]

RP32 Gene

retinitis pigmentosa 32 (autosomal recessive)

DFNB66 Gene

deafness, autosomal recessive 66

DFNB65 Gene

deafness, autosomal recessive 65

DFNB58 Gene

deafness, autosomal recessive 58

DFNB50 Gene

deafness, autosomal recessive 50

DFNB71 Gene

deafness, autosomal recessive 71

USH1K Gene

Usher syndrome 1K (autosomal recessive)

SMAR Gene

Spinal muscular atrophy, chronic distal, autosomal recessive

DFNB5 Gene

deafness, autosomal recessive 5

SPAX3 Gene

Ataxia, spastic, 3, autosomal recessive

DFNB38 Gene

deafness, autosomal recessive 38

DFNB31 Gene

deafness, autosomal recessive 31

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

DFNB33 Gene

deafness, autosomal recessive 33

DFNB32 Gene

deafness, autosomal recessive 32

DFNB34 Gene

deafness, autosomal recessive 34

DFNB19 Gene

deafness, autosomal recessive 19

DFNB44 Gene

deafness, autosomal recessive 44

USH1H Gene

Usher syndrome 1H (autosomal recessive)

USH1C Gene

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1G Gene

Usher syndrome 1G (autosomal recessive)

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

DFNB43 Gene

deafness, autosomal recessive 43

DFNB46 Gene

deafness, autosomal recessive 46

DFNB40 Gene

deafness, autosomal recessive 40

DFNB47 Gene

deafness, autosomal recessive 47

SPG32 Gene

spastic paraplegia 32 (autosomal recessive)

DFNB51 Gene

deafness, autosomal recessive 51

OA3 Gene

ocular albinism 3 (autosomal recessive)

MCOP1 Gene

microphthalmia, autosomal recessive

SPG5B Gene

spastic paraplegia 5B (autosomal recessive)

PKHD1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

DFNB13 Gene

deafness, autosomal recessive 13

DFNB17 Gene

deafness, autosomal recessive 17

DFNB14 Gene

deafness, autosomal recessive 14

HYD2 Gene

hypodontia 2 (autosomal recessive)

OCA5 Gene

oculocutaneous albinism 5 (autosomal recessive)

DFNB96 Gene

deafness, autosomal recessive 96

CTAA1 Gene

cataract, anterior polar 1

CTAA2 Gene

cataract, anterior polar 2

CTPP5 Gene

Cataract, posterior polar, 5

CTRCT25 Gene

Cataract, central pouch-like, with sutural opacities

CTRCT28 Gene

Cataract 28

CTRCT29 Gene

Cataract 29, coralliform

DFCTRPS Gene

Deafness, cataract, retinitis pigmentosa, and sperm abnormalities

CTPP Gene

Cataract, posterior polar

CFTDX Gene

Myopathy, congenital, with fiber-type disproportion, X-linked

NPHS1 Gene

nephrosis 1, congenital, Finnish type (nephrin)

This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

BSCL2 Gene

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]

HTC1 Gene

hypertrichosis 1 (universalis, congenital)

HTC2 Gene

hypertrichosis 2 (generalized, congenital)

RNANC Gene

Retinal nonattachment, nonsyndromic congenital

NHS Gene

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

MDC1B Gene

Muscular dystrophy, congenital, 1B

CDAN3 Gene

congenital dyserythropoietic anemia, type III

LCA5L Gene

Leber congenital amaurosis 5-like

NDNC9 Gene

Nail disorder, nonsyndromic congenital, 9

NYS7 Gene

Nystagmus 7, congenital

NDIC Gene

Nail dysplasia, isolated congenital

PTOS2 Gene

Ptosis, hereditary congenital 2

GLC3C Gene

glaucoma 3, primary congenital, C

SMAL Gene

spinal muscular atrophy, congenital nonprogressive, of lower limbs

ANIC Gene

Anosmia, isolated congenital

CHDT3 Gene

Congenital heart defects, multiple types, 3

MDCMP Gene

muscular dystrophy, congenital, merosin-positive

CHNG3 Gene

Hypothyroidism, congenital, nongoitrous, 3

LCA5 Gene

Leber congenital amaurosis 5

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

MCOR Gene

microcoria, congenital

DIH2 Gene

Hernia, congenital diaphragmatic 2

PAFC Gene

Preauricular fistulae, congenital

RP34 Gene

retinitis pigmentosa 34 (X-linked recessive)

CMTX2 Gene

Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)

SPG16 Gene

spastic paraplegia 16 (complicated, X-linked recessive)

RP2 Gene

retinitis pigmentosa 2 (X-linked recessive)

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]

RP6 Gene

retinitis pigmentosa 6 (X-linked recessive)

AUNX1 Gene

auditory neuropathy, X-linked recessive 1

RP24 Gene

retinitis pigmentosa 24 (X-linked recessive)

ICR3 Gene

ichthyosis congenita III, vulgaris-like recessive ichthyosis

DFNM1 Gene

deafness (recessive, nonsyndromic) modifier 1

OPA4 Gene

optic atrophy 4 (autosomal dominant)

OPA5 Gene

optic atrophy 5 (autosomal dominant)

OPA1 Gene

optic atrophy 1 (autosomal dominant)

This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

CMR1A Gene

cardiomyopathy, restrictive 1A (autosomal dominant)

DFNA7 Gene

deafness, autosomal dominant 7

DFNA5 Gene

deafness, autosomal dominant 5

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FXR1 Gene

fragile X mental retardation, autosomal homolog 1

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FXR2 Gene

fragile X mental retardation, autosomal homolog 2

The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X mental retardation syndrome. [provided by RefSeq, Jul 2008]

MYP19 Gene

Myopia 19, autosomal dominant

MYP11 Gene

myopia 11 (high grade, autosomal dominant)

DFNA37 Gene

deafness, autosomal dominant 37

DFNA35 Gene

deafness, autosomal dominant 35

DFNA32 Gene

deafness, autosomal dominant 32

DFNA33 Gene

deafness, autosomal dominant 33

DFNA30 Gene

deafness, autosomal dominant 30

DFNA31 Gene

deafness, autosomal dominant 31

SPG36 Gene

spastic paraplegia 36 (autosomal dominant)

CNA1 Gene

cornea plana 1 (autosomal dominant)

SPG41 Gene

spastic paraplegia 41 (autosomal dominant)

This locus was defined in a Chinese family. Nineteen individuals were genotyped and the interval was defined between D11S1324 and D11S1933. [provided by RefSeq, Feb 2010]

LOC100132797 Gene

fragile X mental retardation, autosomal homolog 1 pseudogene

CMD1K Gene

cardiomyopathy, dilated 1K (autosomal dominant)

CMD1H Gene

cardiomyopathy, dilated 1H (autosomal dominant)

CMD1F Gene

cardiomyopathy, dilated 1F (autosomal dominant)

CMD1B Gene

cardiomyopathy, dilated 1B (autosomal dominant)

PKD1P1 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 1

PKD1P2 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 2

PKD1P3 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 3

PKD1P4 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 4

PKD1P5 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 5

PKD1P6 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 6

PKD3 Gene

polycystic kidney disease 3 (autosomal dominant)

PKD2 Gene

polycystic kidney disease 2 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

PKD1 Gene

polycystic kidney disease 1 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

SPG9 Gene

spastic paraplegia 9 (autosomal dominant)

LGMD1H Gene

limb girdle muscular dystrophy 1H (autosomal dominant)

LGMD1G Gene

limb girdle muscular dystrophy 1G (autosomal dominant)

DYT7 Gene

dystonia 7, torsion (autosomal dominant)

SPDT Gene

Spondyloepiphyseal dysplasia tarda, autosomal dominant

LATD Gene

Laterality defects, autosomal dominant

SPG18 Gene

spastic paraplegia 18 (autosomal dominant)

SPG19 Gene

spastic paraplegia 19 (autosomal dominant)

DFNA16 Gene

deafness, autosomal dominant 16

DFNA18 Gene

deafness, autosomal dominant 18

DFNA19 Gene

deafness, autosomal dominant 19

HYSP3 Gene

Hypospadias 3, autosomal

RP1 Gene

retinitis pigmentosa 1 (autosomal dominant)

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]

RP9 Gene

retinitis pigmentosa 9 (autosomal dominant)

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

DYT21 Gene

dystonia 21, torsion (autosomal dominant)

MYP20 Gene

Myopia 20, autosomal dominant

CMD1Q Gene

cardiomyopathy, dilated 1Q (autosomal dominant)

PAURT1 Gene

Preauricular tag, isolated, autosomal dominant, 1

DFNA43 Gene

deafness, autosomal dominant 43

DFNA42 Gene

deafness, autosomal dominant 42

DFNA40 Gene

deafness, autosomal dominant 40

DFNA47 Gene

deafness, autosomal dominant 47

DFNA46 Gene

deafness, autosomal dominant 46

DFNA45 Gene

deafness, autosomal dominant 45

DFNA49 Gene

deafness, autosomal dominant 49

CORD1 Gene

cone rod dystrophy 1 (autosomal dominant)

MYP12 Gene

myopia 12 (high grade, autosomal dominant)

SPG34 Gene

spastic paraplegia 34 (autosomal dominant)

SPG37 Gene

spastic paraplegia 37 (autosomal dominant)

SPG38 Gene

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

ALS3 Gene

amyotrophic lateral sclerosis 3 (autosomal dominant)

SAX1 Gene

spastic ataxia 1 (autosomal dominant)

DFNA34 Gene

deafness, autosomal dominant 34

DFNA24 Gene

deafness, autosomal dominant 24

DFNA27 Gene

deafness, autosomal dominant 27

DFNA21 Gene

deafness, autosomal dominant 21

DFNA29 Gene

deafness, autosomal dominant 29

LOC100421404 Gene

retinitis pigmentosa 9 (autosomal dominant) pseudogene

CORD17 Gene

cone rod dystrophy 17 (autosomal dominant)

HCHOLA4 Gene

hypercholesterolemia, autosomal dominant 4

RSCIS Gene

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

PARK3 Gene

Parkinson disease 3 (autosomal dominant, Lewy body)

SPG29 Gene

spastic paraplegia 29 (autosomal dominant)

LVNC2 Gene

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

DFNA54 Gene

deafness, autosomal dominant 54

DFNA57 Gene

deafness, autosomal dominant 57

DFNA52 Gene

deafness, autosomal dominant 52

DFNA53 Gene

deafness, autosomal dominant 53

DFNA58 Gene

deafness, autosomal dominant 58

This locus was identified to map between markers D2S2259 and D2S2114 in a Brazilian family with 12 individuals affected by bilateral post-lingual and progressive hearing loss. [provided by RefSeq, Feb 2010]

DFNA59 Gene

deafness, autosomal dominant 59

MYP2 Gene

myopia 2 (high grade, autosomal dominant)

MYP3 Gene

myopia 3 (high grade, autosomal dominant)

MYP4 Gene

myopia 4 (high grade, autosomal dominant)

MYP5 Gene

myopia 5 (high grade, autosomal dominant)

RP63 Gene

retinitis pigmentosa 63 (autosomal dominant)

CHED1 Gene

corneal endothelial dystrophy 1 (autosomal dominant)

NSRP1 Gene

nuclear speckle splicing regulatory protein 1

RNU5B-1 Gene

RNA, U5B small nuclear 1

SNRPCP6 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 6

RNU6-67P Gene

RNA, U6 small nuclear 67, pseudogene

NR1D1 Gene

nuclear receptor subfamily 1, group D, member 1

This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]

NR1D2 Gene

nuclear receptor subfamily 1, group D, member 2

This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

LOC100420828 Gene

nuclear pore associated protein 1 pseudogene

HNRNPCP4 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 4

HNRNPCP2 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 2

RNU1-16P Gene

RNA, U1 small nuclear 16, pseudogene

LRIF1 Gene

ligand dependent nuclear receptor interacting factor 1

RNU7-53P Gene

RNA, U7 small nuclear 53 pseudogene

HNRNPFP1 Gene

heterogeneous nuclear ribonucleoprotein F pseudogene 1

RNU5A-5P Gene

RNA, U5A small nuclear 5, pseudogene

NMTRS-TGA3-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 3-1

PCNA Gene

proliferating cell nuclear antigen

The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

PCNP Gene

PEST proteolytic signal containing nuclear protein

TRNP1 Gene

TMF1-regulated nuclear protein 1

U2AF1L4 Gene

U2 small nuclear RNA auxiliary factor 1-like 4

RNU2-6P Gene

RNA, U2 small nuclear 6, pseudogene

SP140L Gene

SP140 nuclear body protein-like

TC2N Gene

tandem C2 domains, nuclear

HNRNPA1P50 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 50

SAMSN1 Gene

SAM domain, SH3 domain and nuclear localization signals 1

SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]

HNRNPA1P57 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 57

HNRNPA1P59 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 59

LOC402230 Gene

small nuclear ribonucleoprotein 27kDa (U4/U6.U5) pseudogene

HNRNPABP1 Gene

heterogeneous nuclear ribonucleoprotein A/B pseudogene 1

NUCKS1 Gene

nuclear casein kinase and cyclin-dependent kinase substrate 1

This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]

LOC100131425 Gene

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

LOC100820733 Gene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNU7-1 Gene

RNA, U7 small nuclear 1

RNU6-46P Gene

RNA, U6 small nuclear 46, pseudogene

NMTRL-TAA1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 1-1

NRBF2P5 Gene

nuclear receptor binding factor 2 pseudogene 5

LOC100127934 Gene

meiotic nuclear divisions 1 homolog (S. cerevisiae) pseudogene

RNU5E-6P Gene

RNA, U5E small nuclear 6, pseudogene

RNU7-24P Gene

RNA, U7 small nuclear 24 pseudogene

SNRPD3 Gene

small nuclear ribonucleoprotein D3 polypeptide 18kDa

This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SNRPD2 Gene

small nuclear ribonucleoprotein D2 polypeptide 16.5kDa

The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

SNRPD1 Gene

small nuclear ribonucleoprotein D1 polypeptide 16kDa

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

HNRNPA1P63 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 63

HNRNPA1P68 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 68

NPLOC4 Gene

nuclear protein localization 4 homolog (S. cerevisiae)

NXF2B Gene

nuclear RNA export factor 2B

RNU1-28P Gene

RNA, U1 small nuclear 28, pseudogene

RNU1-13P Gene

RNA, U1 small nuclear 13, pseudogene

MNDA Gene

myeloid cell nuclear differentiation antigen

The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008]

MND1 Gene

meiotic nuclear divisions 1 homolog (S. cerevisiae)

The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]

RNU7-5P Gene

RNA, U7 small nuclear 5 pseudogene

NUTF2P8 Gene

nuclear transport factor 2 pseudogene 8

NUTF2P2 Gene

nuclear transport factor 2 pseudogene 2

NUTF2P6 Gene

nuclear transport factor 2 pseudogene 6

NUTF2P7 Gene

nuclear transport factor 2 pseudogene 7

NUTF2P4 Gene

nuclear transport factor 2 pseudogene 4

RNU6ATAC5P Gene

RNA, U6atac small nuclear 5, pseudogene

HNRNPA1P6 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 6

RMND1 Gene

required for meiotic nuclear division 1 homolog (S. cerevisiae)

The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

NFYC Gene

nuclear transcription factor Y, gamma

This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

NFYB Gene

nuclear transcription factor Y, beta

The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]

NFYA Gene

nuclear transcription factor Y, alpha

The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008]

PCNAP1 Gene

proliferating cell nuclear antigen pseudogene 1

PCNAP4 Gene

proliferating cell nuclear antigen pseudogene 4

LSM8 Gene

LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]

LSM4 Gene

LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

LSM5 Gene

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

LOC100420162 Gene

nuclear RNA export factor 5 pseudogene

LSM6 Gene

LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

SNRPGP9 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 9

SNRPGP7 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 7

SNRPGP6 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 6

SNRPGP5 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 5

SNRPGP4 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 4

SNRPGP1 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 1

LOC100129534 Gene

small nuclear ribonucleoprotein polypeptide N pseudogene

NCOA2 Gene

nuclear receptor coactivator 2

The NCOA2 gene encodes nuclear receptor coactivator 2, which aids in the function of nuclear hormone receptors. Nuclear hormone receptors are conditional transcription factors that play important roles in various aspects of cell growth, development, and homeostasis by controlling expression of specific genes. Members of the nuclear hormone receptor superfamily, which includes the 5 steroid receptors and class II nuclear receptors (see below), are structurally characterized by 3 distinct domains: an N-terminal transcriptional activation domain, a central DNA-binding domain, and a C-terminal hormone-binding domain. Before the binding of hormone, steroid receptors, which are sometimes called class I of the nuclear hormone receptor family, remain inactive in a complex with heat-shock protein-90 (MIM 140571) and other stress family proteins. Binding of hormone induces critical conformational changes in steroid receptors that cause them to dissociate from the inhibitory complex, bind as homodimers to specific DNA enhancer elements associated with target genes, and modulate that gene's transcription. After binding to enhancer elements, transcription factors require transcriptional coactivator proteins to mediate their stimulation of transcription initiation (Hong et al., 1997 [PubMed 9111344]).[supplied by OMIM, Nov 2010]

NCOA3 Gene

nuclear receptor coactivator 3

The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]

NCOA1 Gene

nuclear receptor coactivator 1

The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

NCOA6 Gene

nuclear receptor coactivator 6

The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]

NCOA7 Gene

nuclear receptor coactivator 7

NCOA4 Gene

nuclear receptor coactivator 4

This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]

NCOA5 Gene

nuclear receptor coactivator 5

This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Two alternatively spliced transcript variants for this gene have been described. However, the full length nature of one of the variants has not been determined. [provided by RefSeq, Jul 2008]

RNU7-62P Gene

RNA, U7 small nuclear 62 pseudogene

HNRNPAB Gene

heterogeneous nuclear ribonucleoprotein A/B

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

HNRNPA1P42 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 42

HNRNPA1P41 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 41

HNRNPA1P46 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 46

HNRNPA1P47 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 47

HNRNPA1P44 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 44

HNRNPA1P45 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 45

HNRNPA3 Gene

heterogeneous nuclear ribonucleoprotein A3

HNRNPA0 Gene

heterogeneous nuclear ribonucleoprotein A0

This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. [provided by RefSeq, Jul 2008]

HNRNPA1 Gene

heterogeneous nuclear ribonucleoprotein A1

This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is one of the most abundant core proteins of hnRNP complexes and it is localized to the nucleoplasm. This protein, along with other hnRNP proteins, is exported from the nucleus, probably bound to mRNA, and is immediately re-imported. Its M9 domain acts as both a nuclear localization and nuclear export signal. The encoded protein is involved in the packaging of pre-mRNA into hnRNP particles, transport of poly A+ mRNA from the nucleus to the cytoplasm, and may modulate splice site selection. It is also thought have a primary role in the formation of specific myometrial protein species in parturition. Multiple alternatively spliced transcript variants have been found for this gene but only two transcripts are fully described. These variants have multiple alternative transcription initiation sites and multiple polyA sites. [provided by RefSeq, Jul 2008]

RNU6-79P Gene

RNA, U6 small nuclear 79, pseudogene

NARFL Gene

nuclear prelamin A recognition factor-like

RNU4-7P Gene

RNA, U4 small nuclear 7, pseudogene

NFKBIB Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta

The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011]

NFKBID Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta

NFKBIE Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon

The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]

NFKBIZ Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta

This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NR5A2 Gene

nuclear receptor subfamily 5, group A, member 2

NR5A1 Gene

nuclear receptor subfamily 5, group A, member 1

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

RNU6-8 Gene

RNA, U6 small nuclear 8

RNU6-9 Gene

RNA, U6 small nuclear 9

RNU6-7 Gene

RNA, U6 small nuclear 7

RNU6-1 Gene

RNA, U6 small nuclear 1

RNU6-2 Gene

RNA, U6 small nuclear 2

NR6A1 Gene

nuclear receptor subfamily 6, group A, member 1

This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]

NUDC Gene

nudC nuclear distribution protein

This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012]

RNU6-69P Gene

RNA, U6 small nuclear 69, pseudogene

LOC105376955 Gene

nuclear pore membrane glycoprotein 210-like

RNU1-20P Gene

RNA, U1 small nuclear 20, pseudogene

LOC100421782 Gene

heterogeneous nuclear ribonucleoprotein A1-like 2 pseudogene

GEMIN8P2 Gene

gem (nuclear organelle) associated protein 8 pseudogene 2

RNU7-47P Gene

RNA, U7 small nuclear 47 pseudogene

PIR Gene

pirin (iron-binding nuclear protein)

This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

RNU7-86P Gene

RNA, U7 small nuclear 86 pseudogene

NCOR1P2 Gene

nuclear receptor corepressor 1 pseudogene 2

NMTRQ-TTG8-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 8-1

RNU7-13P Gene

RNA, U7 small nuclear 13 pseudogene

RNU4ATAC2P Gene

RNA, U4atac small nuclear 2, pseudogene

NUS1P4 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 4

NUS1P1 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 1

NUS1P3 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 3

NUS1P2 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2

HNRNPR Gene

heterogeneous nuclear ribonucleoprotein R

This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]

RNU6-64P Gene

RNA, U6 small nuclear 64, pseudogene

HNRNPL Gene

heterogeneous nuclear ribonucleoprotein L

Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SNRNP200 Gene

small nuclear ribonucleoprotein 200kDa (U5)

Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]

HNRNPDP1 Gene

heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 1

LOC101060637 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

PABPN1L Gene

poly(A) binding protein, nuclear 1-like (cytoplasmic)

HNRNPH1P2 Gene

heterogeneous nuclear ribonucleoprotein H1 pseudogene 2

HNRNPH1P3 Gene

heterogeneous nuclear ribonucleoprotein H1 pseudogene 3

HNRNPH1P1 Gene

heterogeneous nuclear ribonucleoprotein H1 pseudogene 1

RNU5B-5P Gene

RNA, U5B small nuclear 5, pseudogene

THYN1 Gene

thymocyte nuclear protein 1

This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

RNU6-63P Gene

RNA, U6 small nuclear 63, pseudogene

RNU7-54P Gene

RNA, U7 small nuclear 54 pseudogene

RNU5A-2P Gene

RNA, U5A small nuclear 2, pseudogene

LOC100420944 Gene

nuclear transcription factor Y, beta pseudogene

NMTRQ-TTG2-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 2-1

LOC102724426 Gene

Sjoegren syndrome nuclear autoantigen 1 homolog

NFKB1 Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells 1

This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

NFKB2 Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)

This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

BLZF2P Gene

basic leucine zipper nuclear factor 2 pseudogene

NFATC1 Gene

nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1

The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]

NFATC2 Gene

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

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]

NFATC4 Gene

nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4

This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

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

LOC100420758 Gene

poly(A) binding protein, nuclear 1 pseudogene

RNU5D-2P Gene

RNA, U5D small nuclear 2, pseudogene

ANP32BP2 Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2

ANP32F Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member F

ANP32D Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member D

Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]

ANP32E Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member E

ANP32B Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member B

ANP32C Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member C

Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]

ANP32A Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member A

LOC100420515 Gene

CTD nuclear envelope phosphatase 1 pseudogene

CSRNP1 Gene

cysteine-serine-rich nuclear protein 1

This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. [provided by RefSeq, Jul 2008]

CSRNP2 Gene

cysteine-serine-rich nuclear protein 2

The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

CSRNP3 Gene

cysteine-serine-rich nuclear protein 3

NUPR1 Gene

nuclear protein, transcriptional regulator, 1

NASP Gene

nuclear autoantigenic sperm protein (histone-binding)

This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]

RNU6-76P Gene

RNA, U6 small nuclear 76, pseudogene

RNU7-27P Gene

RNA, U7 small nuclear 27 pseudogene

SNRPCP9 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 9

SNRPCP8 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 8

SNRPCP3 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 3

SNRPCP2 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 2

SNRPCP7 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 7

SNRPCP4 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 4

SNAPC3 Gene

small nuclear RNA activating complex, polypeptide 3, 50kDa

SNAPC2 Gene

small nuclear RNA activating complex, polypeptide 2, 45kDa

This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SNAPC1 Gene

small nuclear RNA activating complex, polypeptide 1, 43kDa

SNAPC5 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa

SNAPC4 Gene

small nuclear RNA activating complex, polypeptide 4, 190kDa

LOC105372267 Gene

nuclear factor interleukin-3-regulated protein-like

RNU6-21P Gene

RNA, U6 small nuclear 21, pseudogene

NUS1 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)

RNU2-3P Gene

RNA, U2 small nuclear 3, pseudogene

HNRNPA1P5 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 5

HNRNPA1P4 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 4

HNRNPA1P7 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 7

HNRNPA1P1 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 1

HNRNPA1P3 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 3

HNRNPA1P2 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 2

HNRNPA1P9 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 9

HNRNPA1P8 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 8

RNU7-75P Gene

RNA, U7 small nuclear 75 pseudogene

RNU7-4P Gene

RNA, U7 small nuclear 4 pseudogene

RN7SKP1 Gene

RNA, 7SK small nuclear pseudogene 1

RNU5A-8P Gene

RNA, U5A small nuclear 8, pseudogene

HNRNPU Gene

heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they form complexes with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

HNRNPK Gene

heterogeneous nuclear ribonucleoprotein K

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]

HNRNPM Gene

heterogeneous nuclear ribonucleoprotein M

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

HNRNPC Gene

heterogeneous nuclear ribonucleoprotein C (C1/C2)

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

HNRNPD Gene

heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]

HNRNPF Gene

heterogeneous nuclear ribonucleoprotein F

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

RNU6-53P Gene

RNA, U6 small nuclear 53, pseudogene

NMTRQ-TTG3-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 3-1

RNU5F-6P Gene

RNA, U5F small nuclear 6, pseudogene

LOC100130466 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

ANP32BP1 Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1

RNU4-4P Gene

RNA, U4 small nuclear 4, pseudogene

NMTRQ-TTG12-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 12-1

RNU6-83P Gene

RNA, U6 small nuclear 83, pseudogene

NRM Gene

nurim (nuclear envelope membrane protein)

The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

RNU1-27P Gene

RNA, U1 small nuclear 27, pseudogene

RNU6-48P Gene

RNA, U6 small nuclear 48, pseudogene

RNU1-18P Gene

RNA, U1 small nuclear 18, pseudogene

RNU2-1 Gene

RNA, U2 small nuclear 1

The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009]

RNU7-42P Gene

RNA, U7 small nuclear 42 pseudogene

NR2C2AP Gene

nuclear receptor 2C2-associated protein

RNU7-85P Gene

RNA, U7 small nuclear 85 pseudogene

LOC100132229 Gene

nuclear pore associated protein 1 pseudogene

RNU7-28P Gene

RNA, U7 small nuclear 28 pseudogene

RNU7-65P Gene

RNA, U7 small nuclear 65 pseudogene

NPIPP1 Gene

nuclear pore complex interacting protein pseudogene 1

LOC105378245 Gene

heterogeneous nuclear ribonucleoprotein A1-like

HNRNPA1P19 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 19

HNRNPA1P18 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 18

HNRNPA1P15 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 15

HNRNPA1P14 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 14

HNRNPA1P17 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 17

HNRNPA1P16 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 16

HNRNPA1P11 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 11

HNRNPA1P10 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 10

HNRNPA1P13 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 13

HNRNPA1P12 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 12

SYNE1 Gene

spectrin repeat containing, nuclear envelope 1

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

SYNE2 Gene

spectrin repeat containing, nuclear envelope 2

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

SYNE3 Gene

spectrin repeat containing, nuclear envelope family member 3

SYNE4 Gene

spectrin repeat containing, nuclear envelope family member 4

NMTRS-TGA2-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 2-1

ARNTL Gene

aryl hydrocarbon receptor nuclear translocator-like

The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

NPIP Gene

nuclear pore complex interacting protein family, member A1 pseudogene

ARNT2 Gene

aryl-hydrocarbon receptor nuclear translocator 2

This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]

LOC100421673 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

LOC100421672 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

NAF1 Gene

nuclear assembly factor 1 ribonucleoprotein

HNRNPA1P48 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 48

RNU6-66P Gene

RNA, U6 small nuclear 66, pseudogene

HNF4GP1 Gene

hepatocyte nuclear factor 4, gamma pseudogene 1

LOC100506654 Gene

gem (nuclear organelle) associated protein 7 pseudogene

RNU7-8P Gene

RNA, U7 small nuclear 8 pseudogene

LOC100820734 Gene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNU7-14P Gene

RNA, U7 small nuclear 14 pseudogene

HNRNPMP2 Gene

heterogeneous nuclear ribonucleoprotein M pseudogene 2

HNRNPMP1 Gene

heterogeneous nuclear ribonucleoprotein M pseudogene 1

NRBF2P4 Gene

nuclear receptor binding factor 2 pseudogene 4

LOC729200 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

NMTRQ-TTG6-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 6-1

RNVU1-17 Gene

RNA, variant U1 small nuclear 17

RNVU1-14 Gene

RNA, variant U1 small nuclear 14

RNVU1-15 Gene

RNA, variant U1 small nuclear 15

RNVU1-11 Gene

RNA, variant U1 small nuclear 11

RNVU1-18 Gene

RNA, variant U1 small nuclear 18

RNVU1-19 Gene

RNA, variant U1 small nuclear 19

NAIF1 Gene

nuclear apoptosis inducing factor 1

LOC100422717 Gene

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 pseudogene

NPAT Gene

nuclear protein, ataxia-telangiectasia locus

SNAPC5P1 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1

SNRPGP13 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 13

SNRPGP12 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 12

SNRPGP11 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 11

SNRPGP14 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 14

RNU5E-8P Gene

RNA, U5E small nuclear 8, pseudogene

LOC100421023 Gene

nuclear transcription factor Y, gamma pseudogene

RNU7-51P Gene

RNA, U7 small nuclear 51 pseudogene

NMTRQ-TTG13-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 13-1

C1DP2 Gene

C1D nuclear receptor corepressor pseudogene 2

NPIPB15 Gene

nuclear pore complex interacting protein family, member B15

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]

ANP32AP1 Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1

HNRNPA1P54 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 54

HNRNPA1P56 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 56

NR3C1P1 Gene

nuclear receptor subfamily 3, group C, member 1 pseudogene 1

LOC100421894 Gene

exportin, tRNA (nuclear export receptor for tRNAs) pseudogene

NSD1 Gene

nuclear receptor binding SET domain protein 1

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

RNU6-15P Gene

RNA, U6 small nuclear 15, pseudogene

RNU2-4P Gene

RNA, U2 small nuclear 4, pseudogene

RNU1-15P Gene

RNA, U1 small nuclear 15, pseudogene

RNU5F-4P Gene

RNA, U5F small nuclear 4, pseudogene

RNU6ATAC3P Gene

RNA, U6atac small nuclear 3, pseudogene

NMTRV-TAC1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Val (TAC) 1-1

NFATC2IP Gene

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

RNU7-72P Gene

RNA, U7 small nuclear 72 pseudogene

NMTRL-TAA4-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 4-1

RNU6-56P Gene

RNA, U6 small nuclear 56, pseudogene

SNRPGP8 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 8

HNRNPA1P77 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 77

LOC100130180 Gene

nuclear factor, erythroid 2-like 3 pseudogene

LOC100288853 Gene

poly(A) binding protein, nuclear 1 pseudogene

NMTRL-TAA5-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 5-1

MINA Gene

MYC induced nuclear antigen

MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]

RNU4-9P Gene

RNA, U4 small nuclear 9, pseudogene

NMTRQ-TTG7-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 7-1

RNU6-71P Gene

RNA, U6 small nuclear 71, pseudogene

RNU7-22P Gene

RNA, U7 small nuclear 22 pseudogene

SNRPB2 Gene

small nuclear ribonucleoprotein polypeptide B

The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

RNU7-59P Gene

RNA, U7 small nuclear 59 pseudogene

EIF4ENIF1 Gene

eukaryotic translation initiation factor 4E nuclear import factor 1

The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

RNU6-26P Gene

RNA, U6 small nuclear 26, pseudogene

RNU6-10P Gene

RNA, U6 small nuclear 10, pseudogene

LOC100422493 Gene

required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene

RNU7-41P Gene

RNA, U7 small nuclear 41 pseudogene

RNU6ATAC4P Gene

RNA, U6atac small nuclear 4, pseudogene

RNU1-3 Gene

RNA, U1 small nuclear 3

RNU1-2 Gene

RNA, U1 small nuclear 2

LOC440353 Gene

nuclear pore complex interacting protein family, member A1 pseudogene

HNRNPCP9 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 9

HNRNPCP8 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 8

HNRNPCP7 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 7

HNRNPCP6 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 6

HNRNPCP1 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 1

HNRNPCP3 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 3

SP100 Gene

SP100 nuclear antigen

This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]

NRBP2 Gene

nuclear receptor binding protein 2

NRBP1 Gene

nuclear receptor binding protein 1

RNU7-60P Gene

RNA, U7 small nuclear 60 pseudogene

HNRNPA1P64 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 64

HNRNPA1P66 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 66

HNRNPA1P67 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 67

HNRNPA1P60 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 60

HNRNPA1P61 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 61

NR2E1 Gene

nuclear receptor subfamily 2, group E, member 1

NR2E3 Gene

nuclear receptor subfamily 2, group E, member 3

This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

LOC441722 Gene

U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

RNU5B-3P Gene

RNA, U5B small nuclear 3, pseudogene

SNRNP40 Gene

small nuclear ribonucleoprotein 40kDa (U5)

This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

SNRNP48 Gene

small nuclear ribonucleoprotein 48kDa (U11/U12)

NFAT5 Gene

nuclear factor of activated T-cells 5, tonicity-responsive

The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RNU1-22P Gene

RNA, U1 small nuclear 22, pseudogene

GEMIN7 Gene

gem (nuclear organelle) associated protein 7

The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

RN7SKP8 Gene

RNA, 7SK small nuclear pseudogene 8

RN7SKP9 Gene

RNA, 7SK small nuclear pseudogene 9

RN7SKP6 Gene

RNA, 7SK small nuclear pseudogene 6

RN7SKP7 Gene

RNA, 7SK small nuclear pseudogene 7

RN7SKP4 Gene

RNA, 7SK small nuclear pseudogene 4

RN7SKP5 Gene

RNA, 7SK small nuclear pseudogene 5

RN7SKP2 Gene

RNA, 7SK small nuclear pseudogene 2

RN7SKP3 Gene

RNA, 7SK small nuclear pseudogene 3

RPRD1A Gene

regulation of nuclear pre-mRNA domain containing 1A

This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]

RPRD1B Gene

regulation of nuclear pre-mRNA domain containing 1B

RNU7-80P Gene

RNA, U7 small nuclear 80 pseudogene

NPAP1P1 Gene

nuclear pore associated protein 1 pseudogene 1

NPAP1P3 Gene

nuclear pore associated protein 1 pseudogene 3

NPAP1P2 Gene

nuclear pore associated protein 1 pseudogene 2

NPAP1P4 Gene

nuclear pore associated protein 1 pseudogene 4

NPAP1P6 Gene

nuclear pore associated protein 1 pseudogene 6

NPAP1P8 Gene

nuclear pore associated protein 1 pseudogene 8

PCNPP3 Gene

PEST containing nuclear protein pseudogene 3

PCNPP1 Gene

PEST containing nuclear protein pseudogene 1

PCNPP5 Gene

PEST containing nuclear protein pseudogene 5

PCNPP4 Gene

PEST containing nuclear protein pseudogene 4

RNU7-11P Gene

RNA, U7 small nuclear 11 pseudogene

RNU7-68P Gene

RNA, U7 small nuclear 68 pseudogene

LOC729497 Gene

nuclear receptor coactivator 4 pseudogene

LOC440973 Gene

nuclear transcription factor Y, beta pseudogene

NUPR1L Gene

nuclear protein, transcriptional regulator, 1-like

RNU7-52P Gene

RNA, U7 small nuclear 52 pseudogene

RNU5A-4P Gene

RNA, U5A small nuclear 4, pseudogene

GEMIN8 Gene

gem (nuclear organelle) associated protein 8

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GEMIN2 Gene

gem (nuclear organelle) associated protein 2

This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]

GEMIN6 Gene

gem (nuclear organelle) associated protein 6

GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]

GEMIN4 Gene

gem (nuclear organelle) associated protein 4

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GEMIN5 Gene

gem (nuclear organelle) associated protein 5

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

RALY Gene

RALY heterogeneous nuclear ribonucleoprotein

This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

RNU6-45P Gene

RNA, U6 small nuclear 45, pseudogene

NFXL1 Gene

nuclear transcription factor, X-box binding-like 1

NXF4 Gene

nuclear RNA export factor 4 pseudogene

NXF5 Gene

nuclear RNA export factor 5

This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009]

NXF1 Gene

nuclear RNA export factor 1

This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

NXF2 Gene

nuclear RNA export factor 2

This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog of this gene located adjacent on chromosome X and on the opposite strand. [provided by RefSeq, Aug 2013]

NXF3 Gene

nuclear RNA export factor 3

This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq, Jul 2008]

GEMIN8P4 Gene

gem (nuclear organelle) associated protein 8 pseudogene 4

GEMIN8P3 Gene

gem (nuclear organelle) associated protein 8 pseudogene 3

LSM1P1 Gene

LSM1, U6 small nuclear RNA associated pseudogene 1

RNU6-55P Gene

RNA, U6 small nuclear 55, pseudogene

NPIPB5 Gene

nuclear pore complex interacting protein family, member B5

RNU5F-7P Gene

RNA, U5F small nuclear 7, pseudogene

HNRNPH1 Gene

heterogeneous nuclear ribonucleoprotein H1 (H)

This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]

HNRNPH3 Gene

heterogeneous nuclear ribonucleoprotein H3 (2H9)

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]

HNRNPH2 Gene

heterogeneous nuclear ribonucleoprotein H2 (H')

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011]

RNU7-19P Gene

RNA, U7 small nuclear 19 pseudogene

RNU7-78P Gene

RNA, U7 small nuclear 78 pseudogene

HNRNPUL2 Gene

heterogeneous nuclear ribonucleoprotein U-like 2

HNRNPUL1 Gene

heterogeneous nuclear ribonucleoprotein U-like 1

This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus E1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by E1B-55kDa in adenovirus-infected cells. Two transcript variants encoding different isoforms have been found for this gene. Additional variants have also been found, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]

RNU4ATAC Gene

RNA, U4atac small nuclear (U12-dependent splicing)

The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]

LOC613037 Gene

nuclear pore complex interacting protein pseudogene

RPRD2 Gene

regulation of nuclear pre-mRNA domain containing 2

RNU7-25P Gene

RNA, U7 small nuclear 25 pseudogene

NUFIP1P Gene

nuclear fragile X mental retardation protein interacting protein 1 pseudogene

C1DP4 Gene

C1D nuclear receptor corepressor pseudogene 4

GEMIN8P1 Gene

gem (nuclear organelle) associated protein 8 pseudogene 1

RNU7-81P Gene

RNA, U7 small nuclear 81 pseudogene

RNU6-23P Gene

RNA, U6 small nuclear 23, pseudogene

RNU7-10P Gene

RNA, U7 small nuclear 10 pseudogene

RNU7-20P Gene

RNA, U7 small nuclear 20 pseudogene

PCNAP2 Gene

proliferating cell nuclear antigen pseudogene 2

RNU7-6P Gene

RNA, U7 small nuclear 6 pseudogene

RNU7-77P Gene

RNA, U7 small nuclear 77 pseudogene

NFRKB Gene

nuclear factor related to kappaB binding protein

NFX1 Gene

nuclear transcription factor, X-box binding 1

MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]

RN7SK Gene

RNA, 7SK small nuclear

PCBD2 Gene

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2

NMTRS-TGA1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 1-1

LOC100421402 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene

NFE4 Gene

nuclear factor, erythroid 4

The erythroid-specific protein encoded by this gene, and the ubiquitous transcription factor CP2, form the stage selector protein (SSP) complex, which is involved in preferential expression of the gamma-globin genes in fetal erythroid cells. Alternate use of an in-frame upstream non-AUG (CUG) translation initiation codon, and a downstream AUG codon, results in two isoforms. While the long isoform (22 kDa) acts as an activator, the short isoform (14 kDa) has been shown to repress gamma-globin gene expression. This gene is located in an intron of the FBXL13 gene on the opposite strand. [provided by RefSeq, Jul 2008]

NFE2 Gene

nuclear factor, erythroid 2

PABPN1 Gene

poly(A) binding protein, nuclear 1

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]

NR2F6 Gene

nuclear receptor subfamily 2, group F, member 6

NR2F1 Gene

nuclear receptor subfamily 2, group F, member 1

The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]

NR2F2 Gene

nuclear receptor subfamily 2, group F, member 2

This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

RNU5D-1 Gene

RNA, U5D small nuclear 1

TPR Gene

translocated promoter region, nuclear basket protein

This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]

RNU4-6P Gene

RNA, U4 small nuclear 6, pseudogene

SET Gene

SET nuclear proto-oncogene

The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

HNRNPCP10 Gene

heterogeneous nuclear ribonucleoprotein C pseudogene 10

LOC100303749 Gene

LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

CTDNEP1 Gene

CTD nuclear envelope phosphatase 1

NMTRQ-TTG11-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 11-1

SNRNP70 Gene

small nuclear ribonucleoprotein 70kDa (U1)

NUMA1 Gene

nuclear mitotic apparatus protein 1

This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

RNU7-49P Gene

RNA, U7 small nuclear 49 pseudogene

RNU5E-1 Gene

RNA, U5E small nuclear 1

RNU1-21P Gene

RNA, U1 small nuclear 21, pseudogene

LOC100131261 Gene

proline-rich nuclear receptor coactivator 2 pseudogene

RNU7-44P Gene

RNA, U7 small nuclear 44 pseudogene

NR4A2 Gene

nuclear receptor subfamily 4, group A, member 2

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

NR4A3 Gene

nuclear receptor subfamily 4, group A, member 3

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

NR4A1 Gene

nuclear receptor subfamily 4, group A, member 1

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

TP53INP1 Gene

tumor protein p53 inducible nuclear protein 1

TP53INP2 Gene

tumor protein p53 inducible nuclear protein 2

RNU7-87P Gene

RNA, U7 small nuclear 87 pseudogene

NSRP1P1 Gene

nuclear speckle splicing regulatory protein 1 pseudogene 1

RNU7-12P Gene

RNA, U7 small nuclear 12 pseudogene

RNU6ATAC Gene

RNA, U6atac small nuclear (U12-dependent splicing)

HNRNPA1P37 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 37

HNRNPA1P36 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 36

HNRNPA1P35 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 35

HNRNPA1P34 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 34

HNRNPA1P33 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 33

HNRNPA1P39 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 39

HNRNPA1P38 Gene

heterogeneous nuclear ribonucleoprotein A1pseudogene 38

NMTRL-TAA3-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 3-1

RNU5B-6P Gene

RNA, U5B small nuclear 6, pseudogene

RNU7-57P Gene

RNA, U7 small nuclear 57 pseudogene

RNU6-52P Gene

RNA, U6 small nuclear 52, pseudogene

HNRNPA1P43 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 43

LOC100421387 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene

NRBF2P1 Gene

nuclear receptor binding factor 2 pseudogene 1

NRBF2P3 Gene

nuclear receptor binding factor 2 pseudogene 3

NRBF2P2 Gene

nuclear receptor binding factor 2 pseudogene 2

NEMF Gene

nuclear export mediator factor

RNU7-88P Gene

RNA, U7 small nuclear 88 pseudogene

LOC101060275 Gene

nuclear pore complex-interacting protein family member B4-like

NMTRQ-TTG10-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 10-1

RN7SKP10 Gene

RNA, 7SK small nuclear pseudogene 10

HNRNPLP2 Gene

heterogeneous nuclear ribonucleoprotein L pseudogene 2

HNRNPLP1 Gene

heterogeneous nuclear ribonucleoprotein L pseudogene 1

NCOR1P1 Gene

nuclear receptor corepressor 1 pseudogene 1

NCOR1P3 Gene

nuclear receptor corepressor 1 pseudogene 3

BA395L14.12 Gene

small nuclear ribonucleoprotein polypeptide A' pseudogene

RNU6-58P Gene

RNA, U6 small nuclear 58, pseudogene

RNU5E-9P Gene

RNA, U5E small nuclear 9, pseudogene

C1D Gene

C1D nuclear receptor corepressor

The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]

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

RNU7-73P Gene

RNA, U7 small nuclear 73 pseudogene

RNU6V Gene

RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence

RNU5E-5P Gene

RNA, U5E small nuclear 5, pseudogene

SNRPGP10 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 10

SNRPGP15 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 15

NMTRQ-TTG9-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 9-1

RNU1-17P Gene

RNA, U1 small nuclear 17, pseudogene

RNU2-2P Gene

RNA, U2 small nuclear 2, pseudogene

RNU5F-2P Gene

RNA, U5F small nuclear 2, pseudogene

RNU7-74P Gene

RNA, U7 small nuclear 74 pseudogene

MDM1 Gene

Mdm1 nuclear protein homolog (mouse)

This gene encodes a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles, is amplified in the mouse transformed 3T3 cell line, and the encoded protein is able to bind to p53. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

RNU6-50P Gene

RNA, U6 small nuclear 50, pseudogene

ARNTL2 Gene

aryl hydrocarbon receptor nuclear translocator-like 2

This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

LOC441228 Gene

exportin, tRNA (nuclear export receptor for tRNAs) pseudogene

PNRC1 Gene

proline-rich nuclear receptor coactivator 1

PNRC2 Gene

proline-rich nuclear receptor coactivator 2

RNU5E-2P Gene

RNA, U5E small nuclear 2, pseudogene

NMTRL-TAA6-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 6-1

SNRNP25 Gene

small nuclear ribonucleoprotein 25kDa (U11/U12)

Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]

SNRNP27 Gene

small nuclear ribonucleoprotein 27kDa (U4/U6.U5)

This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

LCOR Gene

ligand dependent nuclear receptor corepressor

LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]

RNU6-82P Gene

RNA, U6 small nuclear 82, pseudogene

RNU1-24P Gene

RNA, U1 small nuclear 24, pseudogene

NFKBIL1 Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1

This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

RNU7-43P Gene

RNA, U7 small nuclear 43 pseudogene

MNS1 Gene

meiosis-specific nuclear structural 1

This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]

NXT2 Gene

nuclear transport factor 2-like export factor 2

The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]

NXT1 Gene

nuclear transport factor 2-like export factor 1

The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]

NCOA4P1 Gene

nuclear receptor coactivator 4 pseudogene 1

RNU7-66P Gene

RNA, U7 small nuclear 66 pseudogene

NR2C2 Gene

nuclear receptor subfamily 2, group C, member 2

This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]

NR2C1 Gene

nuclear receptor subfamily 2, group C, member 1

This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

RNU6-19P Gene

RNA, U6 small nuclear 19, pseudogene

RNU4-3P Gene

RNA, U4 small nuclear 3, pseudogene

NUGGC Gene

nuclear GTPase, germinal center associated

LOC100288093 Gene

nuclear RNA export factor 3 pseudogene

RNU6-16P Gene

RNA, U6 small nuclear 16, pseudogene

RNU7-9P Gene

RNA, U7 small nuclear 9 pseudogene

LOC105378594 Gene

nuclear speckle splicing regulatory protein 1-like

HNRNPA1L2 Gene

heterogeneous nuclear ribonucleoprotein A1-like 2

LOC728333 Gene

nuclear receptor coactivator 4 pseudogene

NCBP1 Gene

nuclear cap binding protein subunit 1, 80kDa

The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]

NCBP2 Gene

nuclear cap binding protein subunit 2, 20kDa

The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RNU7-82P Gene

RNA, U7 small nuclear 82 pseudogene

RNU7-17P Gene

RNA, U7 small nuclear 17 pseudogene

LOC401703 Gene

U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

LCORL Gene

ligand dependent nuclear receptor corepressor-like

This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

RNU6-6P Gene

RNA, U6 small nuclear 6, pseudogene

NMTRP-TGG1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Pro (TGG) 1-1

RNVU1-20 Gene

RNA, variant U1 small nuclear 20

LOC105369271 Gene

nuclear pore complex-interacting protein family member B7-like

NRBF2 Gene

nuclear receptor binding factor 2

RNU4-1 Gene

RNA, U4 small nuclear 1

NCOR2 Gene

nuclear receptor corepressor 2

This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]

NCOR1 Gene

nuclear receptor corepressor 1

This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]

HNRNPA3P16 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 16

HNRNPA3P14 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 14

HNRNPA3P13 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 13

HNRNPA3P12 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 12

HNRNPA3P11 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 11

HNRNPA3P10 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 10

LOC100130001 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

RNU7-18P Gene

RNA, U7 small nuclear 18 pseudogene

NFE2L3P1 Gene

nuclear factor, erythroid 2-like 3 pseudogene 1

NPAP1P5 Gene

nuclear pore associated protein 1 pseudogene 5

RNU1-14P Gene

RNA, U1 small nuclear 14, pseudogene

LOC150417 Gene

small nuclear ribonucleoprotein polypeptide A' pseudogene

HNRNPA1P29 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 29

RNU6ATAC2P Gene

RNA, U6atac small nuclear 2, pseudogene

RNU5F-5P Gene

RNA, U5F small nuclear 5, pseudogene

SNRPA1 Gene

small nuclear ribonucleoprotein polypeptide A'

RNU7-71P Gene

RNA, U7 small nuclear 71 pseudogene

HNRNPDLP4 Gene

heterogeneous nuclear ribonucleoprotein D-like pseudogene 4

PCBD1 Gene

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha

This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

RNVU1-3 Gene

RNA, variant U1 small nuclear 3

LOC100420798 Gene

poly(A) binding protein, nuclear 1 pseudogene

RNU6-68P Gene

RNA, U6 small nuclear 68, pseudogene

RNU6-57P Gene

RNA, U6 small nuclear 57, pseudogene

BLZF1 Gene

basic leucine zipper nuclear factor 1

LOC100129099 Gene

proline-rich nuclear receptor coactivator 2 pseudogene

LSM7 Gene

LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

LSM1 Gene

LSM1, U6 small nuclear RNA associated

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. 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, Nov 2011]

LSM2 Gene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011]

RNU6-72P Gene

RNA, U6 small nuclear 72, pseudogene

NEAT1 Gene

nuclear paraspeckle assembly transcript 1 (non-protein coding)

This gene produces a long non-coding RNA (lncRNA) transcribed from the multiple endocrine neoplasia locus. This lncRNA is retained in the nucleus where it forms the core structural component of the paraspeckle sub-organelles. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer progression. [provided by RefSeq, Mar 2015]

RNU5E-7P Gene

RNA, U5E small nuclear 7, pseudogene

RNU12 Gene

RNA, U12 small nuclear

RNU11 Gene

RNA, U11 small nuclear

RNU4-8P Gene

RNA, U4 small nuclear 8, pseudogene

RNU7-58P Gene

RNA, U7 small nuclear 58 pseudogene

RNU5A-7P Gene

RNA, U5A small nuclear 7, pseudogene

RNU7-23P Gene

RNA, U7 small nuclear 23 pseudogene

DCANP1 Gene

dendritic cell-associated nuclear protein

This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq, Jul 2008]

NR1H5P Gene

nuclear receptor subfamily 1, group H, member 5, pseudogene

SNRPEP9 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 9

SNRPEP8 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 8

SNRPEP5 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 5

SNRPEP4 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 4

SNRPEP7 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 7

SNRPEP6 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 6

SNRPEP1 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 1

SNRPEP3 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 3

SNRPEP2 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 2

HNRNPA3P6 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 6

HNRNPA3P5 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 5

SNRPCP1 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 1

LOC730069 Gene

nuclear receptor binding factor 2 pseudogene

RNU7-89P Gene

RNA, U7 small nuclear 89 pseudogene

NMTRL-TAA2-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 2-1

LOC100421349 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene

RNU7-61P Gene

RNA, U7 small nuclear 61 pseudogene

HNRNPA1P51 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 51

HNRNPA1P53 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 53

HNRNPA1P52 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 52

HNRNPA1P55 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 55

HNRNPA1P58 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 58

RNU7-63P Gene

RNA, U7 small nuclear 63 pseudogene

SNRPGP2 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 2

RNU12-2P Gene

RNA, U12 small nuclear 2, pseudogene

NPAP1 Gene

nuclear pore associated protein 1

This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. [provided by RefSeq, Aug 2012]

NR1H4 Gene

nuclear receptor subfamily 1, group H, member 4

This gene encodes a ligand-activated transcription factor, which shares structural features in common with nuclear hormone receptor family, such as a DNA-binding domain that targets the receptor to specific DNA sequences, and a ligand-binding domain, which interacts directly with the ligand and contains a ligand-dependent transcriptional activation domain. This protein functions as a receptor for bile acids, and when bound to bile acids, regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

NR1H2 Gene

nuclear receptor subfamily 1, group H, member 2

The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]

PCNPP2 Gene

PEST containing nuclear protein pseudogene 2

NVL Gene

nuclear VCP-like

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]

SNRPEP10 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 10

LOC100420528 Gene

CTD nuclear envelope phosphatase 1 pseudogene

NMTRQ-TTG1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 1-1

NMTRQ-TTG15-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 15-1

RNU7-46P Gene

RNA, U7 small nuclear 46 pseudogene

NR3C2 Gene

nuclear receptor subfamily 3, group C, member 2

This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

NR3C1 Gene

nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)

This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]

RNU5A-1 Gene

RNA, U5A small nuclear 1

NFE2L3 Gene

nuclear factor, erythroid 2-like 3

This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]

NFE2L2 Gene

nuclear factor, erythroid 2-like 2

This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

NFE2L1 Gene

nuclear factor, erythroid 2-like 1

This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]

SNRPD2P2 Gene

small nuclear ribonucleoprotein D2 pseudogene 2

SNRPD2P1 Gene

small nuclear ribonucleoprotein D2 pseudogene 1

NR1H3 Gene

nuclear receptor subfamily 1, group H, member 3

The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

LOC105369248 Gene

nuclear pore complex-interacting protein family member B5-like

RNU7-40P Gene

RNA, U7 small nuclear 40 pseudogene

RNU7-69P Gene

RNA, U7 small nuclear 69 pseudogene

HNRNPA3P7 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 7

HNRNPA3P3 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 3

RNU5B-4P Gene

RNA, U5B small nuclear 4, pseudogene

HNRNPA3P9 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 9

HNRNPA3P8 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 8

RNU7-55P Gene

RNA, U7 small nuclear 55 pseudogene

NCBP2L Gene

nuclear cap binding protein subunit 2-like

RNU5A-3P Gene

RNA, U5A small nuclear 3, pseudogene

HNF4G Gene

hepatocyte nuclear factor 4, gamma

HNF4A Gene

hepatocyte nuclear factor 4, alpha

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]

LOC100133316 Gene

required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene

RNU7-26P Gene

RNA, U7 small nuclear 26 pseudogene

SNRPN Gene

small nuclear ribonucleoprotein polypeptide N

The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008]

SNRPB Gene

small nuclear ribonucleoprotein polypeptides B and B1

The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]

SNRPC Gene

small nuclear ribonucleoprotein polypeptide C

This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]

SNRPA Gene

small nuclear ribonucleoprotein polypeptide A

The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]

SNRPF Gene

small nuclear ribonucleoprotein polypeptide F

SNRPG Gene

small nuclear ribonucleoprotein polypeptide G

SNRPE Gene

small nuclear ribonucleoprotein polypeptide E

NMTRQ-TTG14-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 14-1

NFIL3 Gene

nuclear factor, interleukin 3 regulated

The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses PER1 and PER2 expression and therefore plays a role in the regulation of circadian rhythm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]

RNVU1-8 Gene

RNA, variant U1 small nuclear 8

RNVU1-4 Gene

RNA, variant U1 small nuclear 4

RNVU1-6 Gene

RNA, variant U1 small nuclear 6

RNVU1-7 Gene

RNA, variant U1 small nuclear 7

RNVU1-1 Gene

RNA, variant U1 small nuclear 1

U2AF1 Gene

U2 small nuclear RNA auxiliary factor 1

This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

U2AF2 Gene

U2 small nuclear RNA auxiliary factor 2

U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]

NARF Gene

nuclear prelamin A recognition factor

Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]

HNRNPA3P4 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 4

HNRNPA3P2 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 2

HNRNPA3P1 Gene

heterogeneous nuclear ribonucleoprotein A3 pseudogene 1

This locus shares sequence similarity with heterogeneous nuclear ribonuclear proteins and represents an apparent transcribed pseudogene of the HNRPA3 gene, which maps to chromosome 2. [provided by RefSeq, Jul 2008]

RNU6-75P Gene

RNA, U6 small nuclear 75, pseudogene

RNU5E-4P Gene

RNA, U5E small nuclear 4, pseudogene

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]

SNRPCP19 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 19

SNRPCP18 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 18

SNRPCP15 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 15

SNRPCP14 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 14

SNRPCP12 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 12

SNRPCP11 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 11

NRF1 Gene

nuclear respiratory factor 1

This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]

NFYAP1 Gene

nuclear transcription factor Y, alpha pseudogene 1

RNU1-11P Gene

RNA, U1 small nuclear 11, pseudogene

RNU7-7P Gene

RNA, U7 small nuclear 7 pseudogene

RNU6-81P Gene

RNA, U6 small nuclear 81, pseudogene

HNRNPRP1 Gene

heterogeneous nuclear ribonucleoprotein R pseudogene 1

HNRNPRP2 Gene

heterogeneous nuclear ribonucleoprotein R pseudogene 2

HNRNPRP3 Gene

heterogeneous nuclear ribonucleoprotein R pseudogene 3

RNU7-76P Gene

RNA, U7 small nuclear 76 pseudogene

RNU4-2 Gene

RNA, U4 small nuclear 2

LOC392364 Gene

nuclear pore associated protein 1 pseudogene

PCNAP3 Gene

proliferating cell nuclear antigen pseudogene 3

SNRPFP4 Gene

small nuclear ribonucleoprotein polypeptide F pseudogene 4

SNRPFP2 Gene

small nuclear ribonucleoprotein polypeptide F pseudogene 2

SNRPFP1 Gene

small nuclear ribonucleoprotein polypeptide F pseudogene 1

SP140 Gene

SP140 nuclear body protein

NR1I3 Gene

nuclear receptor subfamily 1, group I, member 3

This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NR1I2 Gene

nuclear receptor subfamily 1, group I, member 2

This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]

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]

RNU4-5P Gene

RNA, U4 small nuclear 5, pseudogene

SNRPGP3 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 3

LOC100129492 Gene

small nuclear ribonucleoprotein Sm D1 pseudogene

RNU4-10P Gene

RNA, U4 small nuclear 10, pseudogene

LOC101929240 Gene

U5 small nuclear ribonucleoprotein 200 kDa helicase pseudogene

HNRNPA1P74 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 74

RNU1-19P Gene

RNA, U1 small nuclear 19, pseudogene

RNU6-14P Gene

RNA, U6 small nuclear 14, pseudogene

RNU5F-8P Gene

RNA, U5F small nuclear 8, pseudogene

RNU7-45P Gene

RNA, U7 small nuclear 45 pseudogene

RNU7-84P Gene

RNA, U7 small nuclear 84 pseudogene

ARNT Gene

aryl hydrocarbon receptor nuclear translocator

This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]

SSNA1 Gene

Sjogren syndrome nuclear autoantigen 1

HNRNPA2B1 Gene

heterogeneous nuclear ribonucleoprotein A2/B1

This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008]

RNU6-78P Gene

RNA, U6 small nuclear 78, pseudogene

RNU7-64P Gene

RNA, U7 small nuclear 64 pseudogene

LOC100533852 Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) pseudogene

HNRNPA1P20 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 20

HNRNPA1P21 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 21

HNRNPA1P22 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 22

HNRNPA1P23 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 23

HNRNPA1P24 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 24

HNRNPA1P25 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 25

HNRNPA1P26 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 26

HNRNPA1P27 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 27

HNRNPA1P28 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 28

RNU7-70P Gene

RNA, U7 small nuclear 70 pseudogene

NFATC3 Gene

nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3

The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]

HNRNPKP5 Gene

heterogeneous nuclear ribonucleoprotein K pseudogene 5

HNRNPKP4 Gene

heterogeneous nuclear ribonucleoprotein K pseudogene 4

HNRNPKP1 Gene

heterogeneous nuclear ribonucleoprotein K pseudogene 1

HNRNPKP3 Gene

heterogeneous nuclear ribonucleoprotein K pseudogene 3

HNRNPKP2 Gene

heterogeneous nuclear ribonucleoprotein K pseudogene 2

RNU7-56P Gene

RNA, U7 small nuclear 56 pseudogene

NR0B2 Gene

nuclear receptor subfamily 0, group B, member 2

The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]

NR0B1 Gene

nuclear receptor subfamily 0, group B, member 1

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]

RNU5F-1 Gene

RNA, U5F small nuclear 1

C1DP1 Gene

C1D nuclear receptor corepressor pseudogene 1

C1DP3 Gene

C1D nuclear receptor corepressor pseudogene 3

NPIPB11 Gene

nuclear pore complex interacting protein family, member B11

NPIPB1P Gene

nuclear pore complex interacting protein family, member B1, pseudogene

RMND5A Gene

required for meiotic nuclear division 5 homolog A (S. cerevisiae)

RMND5B Gene

required for meiotic nuclear division 5 homolog B (S. cerevisiae)

RNU7-15P Gene

RNA, U7 small nuclear 15 pseudogene

NFKBIA Gene

nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha

This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]

RNU1-1 Gene

RNA, U1 small nuclear 1

RNU1-4 Gene

RNA, U1 small nuclear 4

RNU6-59P Gene

RNA, U6 small nuclear 59, pseudogene

LOC105379766 Gene

small nuclear ribonucleoprotein-associated protein N-like

TOE1 Gene

target of EGR1, member 1 (nuclear)

RNU5B-2P Gene

RNA, U5B small nuclear 2, pseudogene

RNU5E-3P Gene

RNA, U5E small nuclear 3, pseudogene

RNU7-50P Gene

RNA, U7 small nuclear 50 pseudogene

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

RNU5A-6P Gene

RNA, U5A small nuclear 6, pseudogene

LSG1 Gene

large 60S subunit nuclear export GTPase 1

This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

HNRNPLL Gene

heterogeneous nuclear ribonucleoprotein L-like

HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]

RNU5E-10P Gene

RNA, U5E small nuclear 10, pseudogene

RNU7-29P Gene

RNA, U7 small nuclear 29 pseudogene

SNRPBP1 Gene

small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1

NFE2L3P2 Gene

nuclear factor, erythroid 2-like 3 pseudogene 2

HNRNPA1P40 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 40

RNU7-79P Gene

RNA, U7 small nuclear 79 pseudogene

RNU6-28P Gene

RNA, U6 small nuclear 28, pseudogene

GEMIN2P2 Gene

gem (nuclear organelle) associated protein 2 pseudogene 2

GEMIN2P1 Gene

gem (nuclear organelle) associated protein 2 pseudogene 1

LOC102725157 Gene

nuclear pore complex-interacting protein family member B5-like

SNRPFP3 Gene

small nuclear ribonucleoprotein polypeptide F pseudogene 3

RNU2-5P Gene

RNA, U2 small nuclear 5, pseudogene

RHNO1 Gene

RAD9-HUS1-RAD1 interacting nuclear orphan 1

RNU5F-3P Gene

RNA, U5F small nuclear 3, pseudogene

NASPP1 Gene

nuclear autoantigenic sperm protein pseudogene 1

LSM10 Gene

LSM10, U7 small nuclear RNA associated

LSM11 Gene

LSM11, U7 small nuclear RNA associated

RNU7-48P Gene

RNA, U7 small nuclear 48 pseudogene

HNRNPCL1 Gene

heterogeneous nuclear ribonucleoprotein C-like 1

HNRNPCL3 Gene

heterogeneous nuclear ribonucleoprotein C-like 3

HNRNPCL2 Gene

heterogeneous nuclear ribonucleoprotein C-like 2

HNRNPCL4 Gene

heterogeneous nuclear ribonucleoprotein C-like 4

RNU6-42P Gene

RNA, U6 small nuclear 42, pseudogene

LOC100128345 Gene

nuclear transcription factor Y, gamma pseudogene

ANP32BP3 Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 3

HNRNPUP1 Gene

heterogeneous nuclear ribonucleoprotein U pseudogene 1

HNRNPDL Gene

heterogeneous nuclear ribonucleoprotein D-like

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]

NMTRQ-CTG1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (CTG) 1-1

LOC100130602 Gene

regulation of nuclear pre-mRNA domain containing 1A pseudogene

NUTF2 Gene

nuclear transport factor 2

The protein encoded by this gene is a cytosolic factor that facilitates protein transport into the nucleus. It interacts with the nuclear pore complex glycoprotein p62. This encoded protein acts at a relative late stage of nuclear protein import, subsequent to the initial docking of nuclear import ligand at the nuclear envelope. It is thought to be part of a multicomponent system of cytosolic factors that assemble at the pore complex during nuclear import. [provided by RefSeq, Jul 2008]

RNU7-21P Gene

RNA, U7 small nuclear 21 pseudogene

HNRNPDLP2 Gene

heterogeneous nuclear ribonucleoprotein D-like pseudogene 2

HNRNPDLP1 Gene

heterogeneous nuclear ribonucleoprotein D-like pseudogene 1

HNRNPA1P32 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 32

HNRNPA1P31 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 31

HNRNPA1P30 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 30

LOC642262 Gene

nuclear receptor coactivator 4 pseudogene

NUDCP2 Gene

nuclear distribution gene C homolog (A. nidulans) pseudogene 2

NUDCP1 Gene

nuclear distribution gene C homolog (A. nidulans) pseudogene 1

SNRNP35 Gene

small nuclear ribonucleoprotein 35kDa (U11/U12)

The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013]

NR1I4 Gene

nuclear receptor subfamily 1, group I, member 4

RNU7-3P Gene

RNA, U7 small nuclear 3 pseudogene

RNU7-2P Gene

RNA, U7 small nuclear 2 pseudogene

RNU2-7P Gene

RNA, U2 small nuclear 7, pseudogene

MUSTN1 Gene

musculoskeletal, embryonic nuclear protein 1

LSM3 Gene

LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

SP110 Gene

SP110 nuclear body protein

The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]

RNU7-67P Gene

RNA, U7 small nuclear 67 pseudogene

LOC101930116 Gene

heterogeneous nuclear ribonucleoprotein A1, A2/B1 homolog

HNRNPA1P73 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 73

HNRNPA1P71 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 71

HNRNPA1P70 Gene

heterogeneous nuclear ribonucleoprotein A1 pseudogene 70

LOC729978 Gene

nuclear pore complex interacting protein pseudogene

LOC105369973 Gene

heterogeneous nuclear ribonucleoprotein A1-like

NMTRQ-TTG4-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 4-1

CNEP1R1 Gene

CTD nuclear envelope phosphatase 1 regulatory subunit 1

This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

NMTRQ-TTG5-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 5-1

BANP Gene

BTG3 associated nuclear protein

This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

LOC100128467 Gene

nuclear distribution protein nudE-like 1-like

RNU7-83P Gene

RNA, U7 small nuclear 83 pseudogene

RNU7-16P Gene

RNA, U7 small nuclear 16 pseudogene

NFIB Gene

nuclear factor I/B

LOC105371186 Gene

nuclear pore complex-interacting protein family member A5-like

LOC105371189 Gene

nuclear pore complex-interacting protein family member B9-like

NFIC Gene

nuclear factor I/C (CCAAT-binding transcription factor)

The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

NFIA Gene

nuclear factor I/A

This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

NFIX Gene

nuclear factor I/X (CCAAT-binding transcription factor)

The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, Autosomal Recessive Congenital 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset.