Name

Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq Dataset

From Allen Brain Atlas

mRNA expression profiles for human brain tissue samples spanning 31 time points and 26 brain structures

Roadmap Epigenomics Cell and Tissue DNA Accessibility Profiles Dataset

From Roadmap Epigenomics

DNA accessibility profiles for primary cell types and tissues

Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles Dataset

From Roadmap Epigenomics

DNA methylation profiles for primary cell types and tissues

ENCODE Histone Modification Site Profiles Dataset

From Encyclopedia of DNA Elements

histone modification profiles for cell lines

ENCODE Transcription Factor Binding Site Profiles Dataset

From Encyclopedia of DNA Elements

transcription factor binding site profiles for cell lines

ENCODE Transcription Factor Targets Dataset

From Encyclopedia of DNA Elements

target genes of transcription factors from transcription factor binding site profiles

LOC442042 Gene

polymerase (RNA) II (DNA directed) polypeptide D pseudogene

LOC100421620 Gene

polymerase (RNA) mitochondrial (DNA directed) pseudogene

POLR3GP2 Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 2

POLR3GP1 Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 1

POLR2CP Gene

polymerase (RNA) II (DNA directed) polypeptide C, pseudogene

LOC390250 Gene

polymerase (RNA) II (DNA directed) polypeptide E, 25kDa pseudogene

LOC101060521 Gene

DNA-directed RNA polymerase III subunit RPC5

POLR3F Gene

polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa

The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

POLR3G Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD)

POLR3D Gene

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa

This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]

POLR3E Gene

polymerase (RNA) III (DNA directed) polypeptide E (80kD)

POLR3B Gene

polymerase (RNA) III (DNA directed) polypeptide B

This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

POLR3C Gene

polymerase (RNA) III (DNA directed) polypeptide C (62kD)

POLR3A Gene

polymerase (RNA) III (DNA directed) polypeptide A, 155kDa

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

POLR3K Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]

POLR3H Gene

polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)

LOC246724 Gene

DNA directed RNA polymerase II polypeptide J-related gene

LOC246725 Gene

DNA directed RNA polymerase II polypeptide J-related gene

POLR3KP2 Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 2

POLR3KP1 Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 1

POLR2KP1 Gene

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 1

POLRMT Gene

polymerase (RNA) mitochondrial (DNA directed)

This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]

POLR3GL Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like

POLR2LP Gene

polymerase (RNA) II (DNA directed) polypeptide L pseudogene

POLR2KP2 Gene

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 2

POLR3DP1 Gene

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1

LOC105373057 Gene

DNA-directed RNA polymerase II subunit RPB1-like

POLR2J4 Gene

polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene

POLR2J2 Gene

polymerase (RNA) II (DNA directed) polypeptide J2

This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]

POLR2J3 Gene

polymerase (RNA) II (DNA directed) polypeptide J3

This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]

POLR2E Gene

polymerase (RNA) II (DNA directed) polypeptide E, 25kDa

This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. [provided by RefSeq, Jul 2008]

POLR2D Gene

polymerase (RNA) II (DNA directed) polypeptide D

This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008]

POLR2G Gene

polymerase (RNA) II (DNA directed) polypeptide G

This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009]

POLR2F Gene

polymerase (RNA) II (DNA directed) polypeptide F

This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

POLR2A Gene

polymerase (RNA) II (DNA directed) polypeptide A, 220kDa

This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]

POLR2C Gene

polymerase (RNA) II (DNA directed) polypeptide C, 33kDa

This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]

POLR2B Gene

polymerase (RNA) II (DNA directed) polypeptide B, 140kDa

This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

POLR2M Gene

polymerase (RNA) II (DNA directed) polypeptide M

This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]

POLR2L Gene

polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

POLR2I Gene

polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]

POLR2H Gene

polymerase (RNA) II (DNA directed) polypeptide H

The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

POLR2K Gene

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa

This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

POLR2J Gene

polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008]

POLRMTP1 Gene

polymerase (RNA) mitochondrial (DNA directed) pseudogene 1

POLN Gene

polymerase (DNA directed) nu

This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]

PRIMPOL Gene

primase and polymerase (DNA-directed)

POLD4 Gene

polymerase (DNA-directed), delta 4, accessory subunit

This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

POLE3 Gene

polymerase (DNA directed), epsilon 3, accessory subunit

POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

POLDIP3 Gene

polymerase (DNA-directed), delta interacting protein 3

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

POLDIP2 Gene

polymerase (DNA-directed), delta interacting protein 2

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

REV3L Gene

REV3-like, polymerase (DNA directed), zeta, catalytic subunit

REV1 Gene

REV1, polymerase (DNA directed)

This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. Two alternatively spliced transcript variants that encode different proteins have been found. [provided by RefSeq, Jul 2008]

POLG Gene

polymerase (DNA directed), gamma

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

POLE Gene

polymerase (DNA directed), epsilon, catalytic subunit

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

POLB Gene

polymerase (DNA directed), beta

The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]

POLM Gene

polymerase (DNA directed), mu

POLL Gene

polymerase (DNA directed), lambda

This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]

POLK Gene

polymerase (DNA directed) kappa

External and internal DNA-damaging agents continually threaten the integrity of genetic material in cells. Although a variety of repair mechanisms exist to remove the resulting lesions, some lesions escape repair and block the replication machinery. Members of the Y family of DNA polymerases, such as POLK, permit the continuity of the replication fork by allowing replication through such DNA lesions. Each Y family polymerase has a unique DNA-damage bypass and fidelity profile. POLK is specialized for the extension step of lesion bypass (summary by Lone et al., 2007 [PubMed 17317631]).[supplied by OMIM, Jan 2010]

POLI Gene

polymerase (DNA directed) iota

POLH Gene

polymerase (DNA directed), eta

This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

POLE2 Gene

polymerase (DNA directed), epsilon 2, accessory subunit

POLE4 Gene

polymerase (DNA-directed), epsilon 4, accessory subunit

POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

POLQ Gene

polymerase (DNA directed), theta

POLA2 Gene

polymerase (DNA directed), alpha 2, accessory subunit

POLA1 Gene

polymerase (DNA directed), alpha 1, catalytic subunit

This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]

POLD2P1 Gene

polymerase (DNA directed), delta 2, accessory subunit pseudogene 1

LOC100422453 Gene

polymerase (DNA directed), delta 1, catalytic subunit 125kDa pseudogene

POLD1 Gene

polymerase (DNA directed), delta 1, catalytic subunit

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]

POLD2 Gene

polymerase (DNA directed), delta 2, accessory subunit

This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]

POLD3 Gene

polymerase (DNA-directed), delta 3, accessory subunit

This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

LOC100421824 Gene

polymerase (DNA directed), epsilon 2, accessory subunit pseudogene

POLG2 Gene

polymerase (DNA directed), gamma 2, accessory subunit

This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]

LOC101929101 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

TAF4B Gene

TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa

TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

RPAP2 Gene

RNA polymerase II associated protein 2

LOC100422622 Gene

TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa pseudogene

LOC100422627 Gene

TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa pseudogene

RRN3P3 Gene

RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3

RRN3P2 Gene

RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2

RRN3P1 Gene

RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1

UBTF Gene

upstream binding transcription factor, RNA polymerase I

This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]

TAF13P2 Gene

TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa pseudogene 2

TAF13P1 Gene

TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor pseudogene 1

LOC102724525 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

TAF7L Gene

TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa

This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

LOC101929862 Gene

RNA polymerase II transcription factor SIII subunit A3-like

LOC285697 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

LOC391742 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

LOC391746 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

LOC101929749 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

LEO1 Gene

Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)

LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]

ELL2P1 Gene

elongation factor, RNA polymerase II, 2 pseudogene 1

ELL2P4 Gene

elongation factor, RNA polymerase II, 2 pseudogene 4

LOC391747 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

LOC100131448 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

TAF7 Gene

TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa

The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]

TAF6 Gene

TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

TAF5 Gene

TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. [provided by RefSeq, Jul 2008]

TAF4 Gene

TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]

TAF3 Gene

TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa

The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]

TAF2 Gene

TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]

TAF1 Gene

TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

TAF9 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

LOC100130612 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene

SSU72 Gene

SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)

LOC643605 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

LOC101930161 Gene

RNA polymerase II transcription factor SIII subunit A3-like

LOC101930165 Gene

RNA polymerase II transcription factor SIII subunit A3-like

TTF2 Gene

transcription termination factor, RNA polymerase II

This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]

TTF1 Gene

transcription termination factor, RNA polymerase I

This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011]

LOC102724677 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

CTDSP1 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1

This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

CTDSP2 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2

CTDSPL Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like

TAF5L Gene

TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa

The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

POLR1A Gene

polymerase (RNA) I polypeptide A, 194kDa

POLR1B Gene

polymerase (RNA) I polypeptide B, 128kDa

Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]

POLR1C Gene

polymerase (RNA) I polypeptide C, 30kDa

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Defects in this gene have been associated with Treacher Collins syndrome (TCS). [provided by RefSeq, Mar 2011]

POLR1D Gene

polymerase (RNA) I polypeptide D, 16kDa

The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

POLR1E Gene

polymerase (RNA) I polypeptide E, 53kDa

RPAP2P1 Gene

RNA polymerase II associated protein 2 pseudogene 1

ELL3 Gene

elongation factor RNA polymerase II-like 3

ELL2 Gene

elongation factor, RNA polymerase II, 2

LOC105369241 Gene

RNA polymerase II transcription factor SIII subunit A3-like

TAF9P1 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 1

TAF9P2 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 2

TAF9P3 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 3

LOC102724822 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

BRF2 Gene

BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit

This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]

BRF1 Gene

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]

TAF1B Gene

TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa

Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. [provided by RefSeq, Jul 2008]

TAF1D Gene

TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa

TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]

ELL2P2 Gene

elongation factor, RNA polymerase II, 2 pseudogene 2

LOC101929851 Gene

RNA polymerase II transcription factor SIII subunit A3-like

CTDP1 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1

This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

LOC101930171 Gene

RNA polymerase II transcription factor SIII subunit A3-like

LOC105369255 Gene

RNA polymerase II transcription factor SIII subunit A3-like

ELL2P3 Gene

elongation factor, RNA polymerase II, 2 pseudogene 3

TAF9BP2 Gene

TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 2

TAF9BP1 Gene

TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 1

RPAP3 Gene

RNA polymerase II associated protein 3

This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

RPAP1 Gene

RNA polymerase II associated protein 1

This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]

LOC100131770 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene

CTR9 Gene

CTR9, Paf1/RNA polymerase II complex component

CTR9, parafibromin (CDC73; MIM 607393), LEO1 (MIM 610507), and PAF1 (MIM 610506) form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]

ELL Gene

elongation factor RNA polymerase II

RRN3 Gene

RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)

LOC102725069 Gene

RNA polymerase II transcription factor SIII subunit A3-like

LOC102725060 Gene

RNA polymerase II transcription factor SIII subunit A3-like

BTAF1 Gene

BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa

This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]

LOC646066 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

TAF6L Gene

TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]

LOC101929870 Gene

RNA polymerase II transcription factor SIII subunit A3-like

LOC100422556 Gene

Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene

LOC646103 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

RTF1 Gene

Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)

This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]

LOC100128427 Gene

upstream binding transcription factor, RNA polymerase I pseudogene

BDP1 Gene

B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB

The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]

LOC100422645 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 pseudogene

TAF8 Gene

TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa

This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

LOC89844 Gene

mitochondrial RNA polymerase pseudogene

TAF5LP1 Gene

TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa pseudogene 1

LOC100128673 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene

UBTFL5 Gene

upstream binding transcription factor, RNA polymerase I-like 5 (pseudogene)

UBTFL7 Gene

upstream binding transcription factor, RNA polymerase I-like 7 (pseudogene)

UBTFL6 Gene

upstream binding transcription factor, RNA polymerase I-like 6 (pseudogene)

UBTFL1 Gene

upstream binding transcription factor, RNA polymerase I-like 1

UBTFL1 is a preimplantation-specific gene and is involved in early development, implantation, and embryonic stem (ES) cell derivation (summary by Yamada et al., 2010 [PubMed 19915186]).[supplied by OMIM, Jan 2011]

UBTFL3 Gene

upstream binding transcription factor, RNA polymerase I-like 3 (pseudogene)

UBTFL2 Gene

upstream binding transcription factor, RNA polymerase I-like 2 (pseudogene)

UBTFL8 Gene

upstream binding transcription factor, RNA polymerase I-like 8 (pseudogene)

LOC100128056 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 pseudogene

TAF13 Gene

TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008]

TAF12 Gene

TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa

Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2008]

TAF11 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

TAF10 Gene

TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq, Jul 2008]

TAF15 Gene

TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa

This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

TAF1C Gene

TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa

Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]

TAF1A Gene

TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa

This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]

TAF1L Gene

TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like

This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2009]

PAF1 Gene

Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)

This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

LOC442446 Gene

upstream binding transcription factor, RNA polymerase I pseudogene

LOC100129955 Gene

RNA polymerase I-specific transcription initiation factor RRN3-like

LOC391768 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

TAF9B Gene

TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process. [provided by RefSeq, Jul 2008]

LOC100422671 Gene

cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene

CTDSPL2 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2

LOC102725046 Gene

RNA polymerase II transcription factor SIII subunit A3-like

KIN Gene

Kin17 DNA and RNA binding protein

The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

PANDAR Gene

promoter of CDKN1A antisense DNA damage activated RNA

TNKS2 Gene

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

MTPAP Gene

mitochondrial poly(A) polymerase

The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]

PARP4 Gene

poly (ADP-ribose) polymerase family, member 4

This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]

PARP1 Gene

poly (ADP-ribose) polymerase 1

This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]

PARP15 Gene

poly (ADP-ribose) polymerase family, member 15

PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008]

PARP4P1 Gene

poly (ADP-ribose) polymerase family, member 4 pseudogene 1

PARP16 Gene

poly (ADP-ribose) polymerase family, member 16

PARP14 Gene

poly (ADP-ribose) polymerase family, member 14

Poly(ADP-ribosyl)ation is an immediate DNA damage-dependent posttranslational modification of histones and other nuclear proteins that contributes to the survival of injured proliferating cells. PARP14 belongs to the superfamily of enzymes that perform this modification (Ame et al., 2004 [PubMed 15273990]).[supplied by OMIM, Mar 2008]

PARP12 Gene

poly (ADP-ribose) polymerase family, member 12

PARP10 Gene

poly (ADP-ribose) polymerase family, member 10

Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008]

PARP11 Gene

poly (ADP-ribose) polymerase family, member 11

TNKS Gene

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

LOC100421636 Gene

poly (ADP-ribose) polymerase family, member 14 pseudogene

PARP1P1 Gene

poly (ADP-ribose) polymerase family, member 1 pseudogene 1

PARP8 Gene

poly (ADP-ribose) polymerase family, member 8

PARP9 Gene

poly (ADP-ribose) polymerase family, member 9

PARP6 Gene

poly (ADP-ribose) polymerase family, member 6

PARP2 Gene

poly (ADP-ribose) polymerase 2

This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008]

PARP3 Gene

poly (ADP-ribose) polymerase family, member 3

The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

TIPARP Gene

TCDD-inducible poly(ADP-ribose) polymerase

This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PARP1P2 Gene

poly (ADP-ribose) polymerase family, member 1 pseudogene 2

PAPOLG Gene

poly(A) polymerase gamma

This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]

PAPOLA Gene

poly(A) polymerase alpha

The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

PAPOLB Gene

poly(A) polymerase beta (testis specific)

PARP4P2 Gene

poly (ADP-ribose) polymerase family, member 4 pseudogene 2

PTRF Gene

polymerase I and transcript release factor

This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]

TDG Gene

thymine-DNA glycosylase

The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]

DDIT3 Gene

DNA-damage-inducible transcript 3

This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]

DDIT4 Gene

DNA-damage-inducible transcript 4

TARDBPP1 Gene

TAR DNA binding protein pseudogene 1

TARDBPP2 Gene

TAR DNA binding protein pseudogene 2

DDI2 Gene

DNA-damage inducible 1 homolog 2 (S. cerevisiae)

DDI1 Gene

DNA-damage inducible 1 homolog 1 (S. cerevisiae)

N6AMT1 Gene

N-6 adenine-specific DNA methyltransferase 1 (putative)

This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]

N6AMT2 Gene

N-6 adenine-specific DNA methyltransferase 2 (putative)

LOC102724184 Gene

DNA (cytosine-5)-methyltransferase 3-like

LOC646044 Gene

single stranded DNA binding protein 4 pseudogene

SSBP4 Gene

single stranded DNA binding protein 4

LOC105377532 Gene

DNA dC->dU-editing enzyme APOBEC-3G-like

LOC100132698 Gene

single stranded DNA binding protein 4 pseudogene

TDP2 Gene

tyrosyl-DNA phosphodiesterase 2

This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]

GADD45A Gene

growth arrest and DNA-damage-inducible, alpha

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]

GADD45B Gene

growth arrest and DNA-damage-inducible, beta

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]

GADD45G Gene

growth arrest and DNA-damage-inducible, gamma

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]

CENPBD1 Gene

CENPB DNA-binding domains containing 1

DNTT Gene

DNA nucleotidylexotransferase

This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

PRIM1 Gene

primase, DNA, polypeptide 1 (49kDa)

The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]

PRIM2 Gene

primase, DNA, polypeptide 2 (58kDa)

This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]

MSANTD2P1 Gene

Myb/SANT-like DNA-binding domain containing 2 pseudogene 1

TDP1 Gene

tyrosyl-DNA phosphodiesterase 1

The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq, Jul 2008]

DNMT1 Gene

DNA (cytosine-5-)-methyltransferase 1

DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

PRKDC Gene

protein kinase, DNA-activated, catalytic polypeptide

This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

DSCC1 Gene

DNA replication and sister chromatid cohesion 1

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

LOC100130177 Gene

uracil-DNA glycosylase pseudogene

D6S2723E Gene

DNA segment on chromosome 6 (unique, pseudogene) 2723 expressed sequence

DCLRE1CP1 Gene

DNA cross-link repair 1C pseudogene 1

DNA2 Gene

DNA replication helicase/nuclease 2

This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

DNMT3AP1 Gene

DNA methyltransferase 3A pseudogene 1

DDB2 Gene

damage-specific DNA binding protein 2, 48kDa

This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

LOC401002 Gene

single stranded DNA binding protein 3 pseudogene

LOC646674 Gene

single stranded DNA binding protein 4 pseudogene

LOC100996860 Gene

TAR DNA-binding protein 43 pseudogene

CDT1 Gene

chromatin licensing and DNA replication factor 1

The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]

HELB Gene

helicase (DNA) B

This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. [provided by RefSeq, Mar 2012]

ZBP1 Gene

Z-DNA binding protein 1

This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

AHDC1 Gene

AT hook, DNA binding motif, containing 1

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

LPSA Gene

Oncogene liposarcoma (DNA segment, single copy, expressed, probes

RFX8 Gene

RFX family member 8, lacking RFX DNA binding domain

LOC643387 Gene

TAR DNA binding protein pseudogene

LOC101060644 Gene

TAR DNA-binding protein 43 pseudogene

LOC646804 Gene

alkylated DNA repair protein alkB homolog 8-like

DFFA Gene

DNA fragmentation factor, 45kDa, alpha polypeptide

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DFFB Gene

DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]

LOC101059974 Gene

p53 and DNA damage-regulated protein 1 pseudogene

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated cell cycle protein

WDHD1 Gene

WD repeat and HMG-box DNA binding protein 1

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

LOC101930420 Gene

DNA primase large subunit-like

LIG4 Gene

ligase IV, DNA, ATP-dependent

The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

LIG1 Gene

ligase I, DNA, ATP-dependent

This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LIG3 Gene

ligase III, DNA, ATP-dependent

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LOC100132723 Gene

single stranded DNA binding protein 4 pseudogene

LOC100129321 Gene

single stranded DNA binding protein 3 pseudogene

TDGP1 Gene

thymine-DNA glycosylase pseudogene 1

LOC100128540 Gene

TAR DNA-binding protein 43-like

ID2B Gene

inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene)

RAD1 Gene

RAD1 checkpoint DNA exonuclease

This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]

LOC101928945 Gene

uracil-DNA glycosylase pseudogene

PIF1 Gene

PIF1 5'-to-3' DNA helicase

This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]

TOP3BP1 Gene

topoisomerase (DNA) III beta pseudogene 1

This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

MSANTD4 Gene

Myb/SANT-like DNA-binding domain containing 4 with coiled-coils

MSANTD1 Gene

Myb/SANT-like DNA-binding domain containing 1

MSANTD2 Gene

Myb/SANT-like DNA-binding domain containing 2

MSANTD3 Gene

Myb/SANT-like DNA-binding domain containing 3

TARDBP Gene

TAR DNA binding protein

HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]

BKMA1 Gene

Banded krait minor satellite DNA-1

LOC100420848 Gene

Myb/SANT-like DNA-binding domain containing 3 pseudogene

TOP2B Gene

topoisomerase (DNA) II beta 180kDa

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. [provided by RefSeq, Jul 2008]

TOP2A Gene

topoisomerase (DNA) II alpha 170kDa

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]

GADD45GIP1 Gene

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

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

DCLRE1B Gene

DNA cross-link repair 1B

DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]

DCLRE1C Gene

DNA cross-link repair 1C

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

DCLRE1A Gene

DNA cross-link repair 1A

This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

DFFBP1 Gene

DNA fragmentation factor, 40kDa, beta polypeptide pseudogene 1

HFM1 Gene

HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)

The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]

KLLN Gene

killin, p53-regulated DNA replication inhibitor

The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012]

CHD1L Gene

chromodomain helicase DNA binding protein 1-like

This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Several alternatively spliced transcripts variants have been described for this gene. [provided by RefSeq, Jan 2012]

CHD1 Gene

chromodomain helicase DNA binding protein 1

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]

CHD3 Gene

chromodomain helicase DNA binding protein 3

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CHD2 Gene

chromodomain helicase DNA binding protein 2

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CHD5 Gene

chromodomain helicase DNA binding protein 5

This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]

CHD4 Gene

chromodomain helicase DNA binding protein 4

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

CHD7 Gene

chromodomain helicase DNA binding protein 7

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq, Jul 2008]

CHD6 Gene

chromodomain helicase DNA binding protein 6

This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]

CHD9 Gene

chromodomain helicase DNA binding protein 9

CHD8 Gene

chromodomain helicase DNA binding protein 8

This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

CENPBD1P1 Gene

CENPB DNA-binding domains containing 1 pseudogene 1

MPG Gene

N-methylpurine-DNA glycosylase

LOC727709 Gene

DNA-damage regulated autophagy modulator 1 pseudogene

MGMT Gene

O-6-methylguanine-DNA methyltransferase

GMNN Gene

geminin, DNA replication inhibitor

This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]

GADD45AP1 Gene

growth arrest and DNA-damage-inducible, alpha pseudogene 1

LOC100132659 Gene

single-stranded DNA binding protein 2 pseudogene

DRAM1 Gene

DNA-damage regulated autophagy modulator 1

This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]

DRAM2 Gene

DNA-damage regulated autophagy modulator 2

APEX1 Gene

APEX nuclease (multifunctional DNA repair enzyme) 1

Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]

OGG1 Gene

8-oxoguanine DNA glycosylase

This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]

TOP1P1 Gene

topoisomerase (DNA) I pseudogene 1

TOP1P2 Gene

topoisomerase (DNA) I pseudogene 2

SPIDR Gene

scaffolding protein involved in DNA repair

PDRG1 Gene

p53 and DNA-damage regulated 1

DMAP1 Gene

DNA methyltransferase 1 associated protein 1

This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

SMUG1 Gene

single-strand-selective monofunctional uracil-DNA glycosylase 1

This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]

SON Gene

SON DNA binding protein

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

DDIT4L Gene

DNA-damage-inducible transcript 4-like

LOC100419572 Gene

uracil-DNA glycosylase pseudogene

LOC100133127 Gene

geminin, DNA replication inhibitor pseudogene 1

DDB1 Gene

damage-specific DNA binding protein 1, 127kDa

The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]

MMS22L Gene

MMS22-like, DNA repair protein

TOP1MT Gene

topoisomerase (DNA) I, mitochondrial

This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

DNMT3B Gene

DNA (cytosine-5-)-methyltransferase 3 beta

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]

DNMT3A Gene

DNA (cytosine-5-)-methyltransferase 3 alpha

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DNMT3L Gene

DNA (cytosine-5-)-methyltransferase 3-like

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

LOC642897 Gene

N-6 adenine-specific DNA methyltransferase 1 (putative) pseudogene

UNG Gene

uracil-DNA glycosylase

This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]

LOC196469 Gene

DNA dC->dU-editing enzyme APOBEC-3G-like

TOP3A Gene

topoisomerase (DNA) III alpha

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. [provided by RefSeq, Jul 2008]

TOP3B Gene

topoisomerase (DNA) III beta

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

DMC1 Gene

DNA meiotic recombinase 1

This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

SSBP1 Gene

single-stranded DNA binding protein 1, mitochondrial

SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

SSBP3 Gene

single stranded DNA binding protein 3

SSBP2 Gene

single-stranded DNA binding protein 2

SSBP2 is a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

TOPBP1 Gene

topoisomerase (DNA) II binding protein 1

This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]

ID4 Gene

inhibitor of DNA binding 4, dominant negative helix-loop-helix protein

This gene encodes a member of the inhibitor of DNA binding (ID) protein family. These proteins are basic helix-loop-helix transcription factors which can act as tumor suppressors but lack DNA binding activity. Consequently, the activity of the encoded protein depends on the protein binding partner. [provided by RefSeq, Dec 2011]

ID2 Gene

inhibitor of DNA binding 2, dominant negative helix-loop-helix protein

The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]

ID3 Gene

inhibitor of DNA binding 3, dominant negative helix-loop-helix protein

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]

ID1 Gene

inhibitor of DNA binding 1, dominant negative helix-loop-helix protein

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC400174 Gene

single stranded DNA binding protein 4 pseudogene

GCFC2 Gene

GC-rich sequence DNA-binding factor 2

The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]

LOC100420880 Gene

primase, DNA, polypeptide 1 (49kDa) pseudogene

LOC100133137 Gene

geminin, DNA replication inhibitor pseudogene 2

DDIAS Gene

DNA damage-induced apoptosis suppressor

TOP1 Gene

topoisomerase (DNA) I

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]

PRIM2B Gene

primase, DNA, polypeptide 2 (58kDa) pseudogene

TONSL Gene

tonsoku-like, DNA repair protein

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

UNGP1 Gene

uracil-DNA glycosylase pseudogene 1

UNGP3 Gene

uracil-DNA glycosylase pseudogene 3

UNGP2 Gene

uracil-DNA glycosylase pseudogene 2

DNCM Gene

DNA associated with cytoplasmic membrane

SMUG1P1 Gene

single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1

LOC100130321 Gene

DNA fragmentation factor, 45kDa, alpha polypeptide pseudogene

MDC1 Gene

mediator of DNA-damage checkpoint 1

The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]

RMRP Gene

RNA component of mitochondrial RNA processing endoribonuclease

This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]

RNU5B-1 Gene

RNA, U5B small nuclear 1

RNF219-AS1 Gene

RNF219 antisense RNA 1

ATP13A4-AS1 Gene

ATP13A4 antisense RNA 1

LINC01221 Gene

long intergenic non-protein coding RNA 1221

ATP1B3-AS1 Gene

ATP1B3 antisense RNA 1

SRBD1 Gene

S1 RNA binding domain 1

TRNAK-CUU Gene

transfer RNA lysine (anticodon CUU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

TPT1-AS1 Gene

TPT1 antisense RNA 1

LINC01227 Gene

long intergenic non-protein coding RNA 1227

PISRT1 Gene

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

RNU6-67P Gene

RNA, U6 small nuclear 67, pseudogene

STAU2-AS1 Gene

STAU2 antisense RNA 1

ZNF197-AS1 Gene

ZNF197 antisense RNA 1

TRNAA-AGC Gene

transfer RNA alanine (anticodon AGC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

NCBP2-AS1 Gene

NCBP2 antisense RNA 1

NCBP2-AS2 Gene

NCBP2 antisense RNA 2 (head to head)

RNU7-36P Gene

RNA, U7 small nuclear 36 pseudogene

TRL-AAG4-1 Gene

transfer RNA-Leu (AAG) 4-1

SNORA81 Gene

small nucleolar RNA, H/ACA box 81

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

SNORA84 Gene

small nucleolar RNA, H/ACA box 84

SCAMP1-AS1 Gene

SCAMP1 antisense RNA 1

TRR-CCT5-1 Gene

transfer RNA-Arg (CCT) 5-1

LINC01091 Gene

long intergenic non-protein coding RNA 1091

LINC01090 Gene

long intergenic non-protein coding RNA 1090

LINC01093 Gene

long intergenic non-protein coding RNA 1093

LINC01095 Gene

long intergenic non-protein coding RNA 1095

LINC01094 Gene

long intergenic non-protein coding RNA 1094

LINC01097 Gene

long intergenic non-protein coding RNA 1097

LINC01096 Gene

long intergenic non-protein coding RNA 1096

LINC01098 Gene

long intergenic non-protein coding RNA 1098

DOCK9-AS1 Gene

DOCK9 antisense RNA 1

TRG-CCC1-1 Gene

transfer RNA-Gly (CCC) 1-1

RNA18SP2 Gene

RNA, 18S ribosomal pseudogene 2

OGFR-AS1 Gene

OGFR antisense RNA 1

LINC00320 Gene

long intergenic non-protein coding RNA 320

LINC00323 Gene

long intergenic non-protein coding RNA 323

LINC00324 Gene

long intergenic non-protein coding RNA 324

LINC00326 Gene

long intergenic non-protein coding RNA 326

LINC00327 Gene

long intergenic non-protein coding RNA 327

LINC00328 Gene

long intergenic non-protein coding RNA 328

EIF1AX-AS1 Gene

EIF1AX antisense RNA 1

SNORD115-14 Gene

small nucleolar RNA, C/D box 115-14

SNORD115-16 Gene

small nucleolar RNA, C/D box 115-16

SNORD115-17 Gene

small nucleolar RNA, C/D box 115-17

SNORD115-10 Gene

small nucleolar RNA, C/D box 115-10

RNU1-16P Gene

RNA, U1 small nuclear 16, pseudogene

NNT-AS1 Gene

NNT antisense RNA 1

LINC01215 Gene

long intergenic non-protein coding RNA 1215

LINC01214 Gene

long intergenic non-protein coding RNA 1214

LINC00847 Gene

long intergenic non-protein coding RNA 847

B3GALT5-AS1 Gene

B3GALT5 antisense RNA 1

PHAX Gene

phosphorylated adaptor for RNA export

LINC00849 Gene

long intergenic non-protein coding RNA 849

TRW-CCA5-1 Gene

transfer RNA-Trp (CCA) 5-1

CLYBL-AS2 Gene

CLYBL antisense RNA 2

CLYBL-AS1 Gene

CLYBL antisense RNA 1

MLK7-AS1 Gene

MLK7 antisense RNA 1

TUNAR Gene

TCL1 upstream neural differentiation-associated RNA

MED4-AS1 Gene

MED4 antisense RNA 1

YEATS2-AS1 Gene

YEATS2 antisense RNA 1

WASIR1 Gene

WASH and IL9R antisense RNA 1

WASIR2 Gene

WASH and IL9R antisense RNA 2

TRG-CCC2-2 Gene

transfer RNA-Gly (CCC) 2-2

CYP4A22-AS1 Gene

CYP4A22 antisense RNA 1

TTC21B-AS1 Gene

TTC21B antisense RNA 1

RNU7-53P Gene

RNA, U7 small nuclear 53 pseudogene

LINC01251 Gene

long intergenic non-protein coding RNA 1251

LINC01250 Gene

long intergenic non-protein coding RNA 1250

LINC01257 Gene

long intergenic non-protein coding RNA 1257

TIAL1 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1

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

CTBP1-AS2 Gene

CTBP1 antisense RNA 2 (head to head)

APCDD1L-AS1 Gene

APCDD1L antisense RNA 1 (head to head)

RNU5A-5P Gene

RNA, U5A small nuclear 5, pseudogene

OIP5-AS1 Gene

OIP5 antisense RNA 1

BCDIN3D-AS1 Gene

BCDIN3D antisense RNA 1

KCTD21-AS1 Gene

KCTD21 antisense RNA 1

SNORD48 Gene

small nucleolar RNA, C/D box 48

SNORD90 Gene

small nucleolar RNA, C/D box 90

SNORD41 Gene

small nucleolar RNA, C/D box 41

SNORD47 Gene

small nucleolar RNA, C/D box 47

SNORD44 Gene

small nucleolar RNA, C/D box 44

SNORD93 Gene

small nucleolar RNA, C/D box 93

SNORD4B Gene

small nucleolar RNA, C/D box 4B

SNORD4A Gene

small nucleolar RNA, C/D box 4A

TRP-AGG1-1 Gene

transfer RNA-Pro (AGG) 1-1

ELFN1-AS1 Gene

ELFN1 antisense RNA 1

REXO1L9P Gene

REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 9, pseudogene

TRA-AGC9-1 Gene

transfer RNA-Ala (AGC) 9-1

TRA-AGC9-2 Gene

transfer RNA-Ala (AGC) 9-2

NOVA1-AS1 Gene

NOVA1 antisense RNA 1 (head to head)

CCDC26 Gene

CCDC26 long non-coding RNA

TRK-TTT17-1 Gene

transfer RNA-Lys (TTT) 17-1

LAMA5-AS1 Gene

LAMA5 antisense RNA 1

NMTRS-TGA3-1 Gene

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

RBMY2JP Gene

RNA binding motif protein, Y-linked, family 2, member J pseudogene

HOXA11-AS Gene

HOXA11 antisense RNA

ZBED5-AS1 Gene

ZBED5 antisense RNA 1

RNA5-8SP2 Gene

RNA, 5.8S ribosomal pseudogene 2

IGBP1-AS1 Gene

IGBP1 antisense RNA 1

RNA5SP193 Gene

RNA, 5S ribosomal pseudogene 193

UBOX5-AS1 Gene

UBOX5 antisense RNA 1

RNA5SP190 Gene

RNA, 5S ribosomal pseudogene 190

RNA5SP69 Gene

RNA, 5S ribosomal pseudogene 69

RNA5SP68 Gene

RNA, 5S ribosomal pseudogene 68

RNA5SP65 Gene

RNA, 5S ribosomal pseudogene 65

RNA5SP64 Gene

RNA, 5S ribosomal pseudogene 64

RNA5SP67 Gene

RNA, 5S ribosomal pseudogene 67

RNA5SP66 Gene

RNA, 5S ribosomal pseudogene 66

RNA5SP61 Gene

RNA, 5S ribosomal pseudogene 61

RNA5SP63 Gene

RNA, 5S ribosomal pseudogene 63

RNA5SP62 Gene

RNA, 5S ribosomal pseudogene 62

FAS-AS1 Gene

FAS antisense RNA 1

TRG-CCC5-1 Gene

transfer RNA-Gly (CCC) 5-1

GPR158-AS1 Gene

GPR158 antisense RNA 1

JARID2-AS1 Gene

JARID2 antisense RNA 1

LOC100129276 Gene

RNA exonuclease 1 homolog

RNA5SP325 Gene

RNA, 5S ribosomal pseudogene 325

RNA5SP324 Gene

RNA, 5S ribosomal pseudogene 324

RNA5SP327 Gene

RNA, 5S ribosomal pseudogene 327

RNA5SP326 Gene

RNA, 5S ribosomal pseudogene 326

RNA5SP321 Gene

RNA, 5S ribosomal pseudogene 321

RNA5SP320 Gene

RNA, 5S ribosomal pseudogene 320

RNA5SP323 Gene

RNA, 5S ribosomal pseudogene 323

RNA5SP322 Gene

RNA, 5S ribosomal pseudogene 322

RNA5SP329 Gene

RNA, 5S ribosomal pseudogene 329

RNA5SP328 Gene

RNA, 5S ribosomal pseudogene 328

CDIPT-AS1 Gene

CDIPT antisense RNA 1 (head to head)

LINC01255 Gene

long intergenic non-protein coding RNA 1255

TRW-CCA4-1 Gene

transfer RNA-Trp (CCA) 4-1

U2AF1L4 Gene

U2 small nuclear RNA auxiliary factor 1-like 4

RNU2-6P Gene

RNA, U2 small nuclear 6, pseudogene

CNTN4-AS1 Gene

CNTN4 antisense RNA 1

TRK-TTT6-1 Gene

transfer RNA-Lys (TTT) 6-1

ADGRA1-AS1 Gene

adhesion G protein-coupled receptor A1 antisense RNA 1

SNORD91B Gene

small nucleolar RNA, C/D box 91B

SNORD91A Gene

small nucleolar RNA, C/D box 91A

LDLRAD4-AS1 Gene

LDLRAD4 antisense RNA 1

MCF2L-AS1 Gene

MCF2L antisense RNA 1

CYP1B1-AS1 Gene

CYP1B1 antisense RNA 1

TRC-GCA2-4 Gene

transfer RNA-Cys (GCA) 2-4

TRS-TGA3-1 Gene

transfer RNA-Ser (TGA) 3-1

TRC-GCA2-1 Gene

transfer RNA-Cys (GCA) 2-1

TRC-GCA2-2 Gene

transfer RNA-Cys (GCA) 2-2

TRC-GCA2-3 Gene

transfer RNA-Cys (GCA) 2-3

LINC01491 Gene

long intergenic non-protein coding RNA 1491

LINC01490 Gene

long intergenic non-protein coding RNA 1490

PROSER2-AS1 Gene

PROSER2 antisense RNA 1

LINC01198 Gene

long intergenic non-protein coding RNA 1198

LINC01194 Gene

long intergenic non-protein coding RNA 1194

LINC01195 Gene

long intergenic non-protein coding RNA 1195

LINC01197 Gene

long intergenic non-protein coding RNA 1197

LINC01191 Gene

long intergenic non-protein coding RNA 1191

LINC01192 Gene

long intergenic non-protein coding RNA 1192

LINC01193 Gene

long intergenic non-protein coding RNA 1193

RPS6KA2-AS1 Gene

RPS6KA2 antisense RNA 1

TRD-GTC6-1 Gene

transfer RNA-Asp (GTC) 6-1

LPP-AS2 Gene

LPP antisense RNA 2

SNORD115-6 Gene

small nucleolar RNA, C/D box 115-6

SNORD115-7 Gene

small nucleolar RNA, C/D box 115-7

SNORD115-4 Gene

small nucleolar RNA, C/D box 115-4

TRG-TCC2-6 Gene

transfer RNA-Gly (TCC) 2-6

TRG-TCC2-5 Gene

transfer RNA-Gly (TCC) 2-5

SNORD115-1 Gene

small nucleolar RNA, C/D box 115-1

This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008]

TRG-TCC2-3 Gene

transfer RNA-Gly (TCC) 2-3

TRG-TCC2-2 Gene

transfer RNA-Gly (TCC) 2-2

TRG-TCC2-1 Gene

transfer RNA-Gly (TCC) 2-1

LINC01360 Gene

long intergenic non-protein coding RNA 1360

SIRPG-AS1 Gene

SIRPG antisense RNA 1

PRR34-AS1 Gene

PRR34 antisense RNA 1

TMEM220-AS1 Gene

TMEM220 antisense RNA 1

TP73-AS1 Gene

TP73 antisense RNA 1

PCBP1-AS1 Gene

PCBP1 antisense RNA 1

HEIH Gene

hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA

CACNA1G-AS1 Gene

CACNA1G antisense RNA 1

HOXB-AS3 Gene

HOXB cluster antisense RNA 3

HOXB-AS4 Gene

HOXB cluster antisense RNA 4

TRNAR-ACG Gene

transfer RNA arginine (anticodon ACG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

LINC01365 Gene

long intergenic non-protein coding RNA 1365

ATE1-AS1 Gene

ATE1 antisense RNA 1

TRC-GCA9-4 Gene

transfer RNA-Cys (GCA) 9-4

LOC100131425 Gene

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

TESC-AS1 Gene

TESC antisense RNA 1 (head to head)

RNA5SP109 Gene

RNA, 5S ribosomal pseudogene 109

EPN2-AS1 Gene

EPN2 antisense RNA 1

RNA5SP101 Gene

RNA, 5S ribosomal pseudogene 101

AATK-AS1 Gene

AATK antisense RNA 1

LOC100820733 Gene

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

RNU7-1 Gene

RNA, U7 small nuclear 1

TRN-GTT8-1 Gene

transfer RNA-Asn (GTT) 8-1

ALOX12-AS1 Gene

ALOX12 antisense RNA 1

RNU6-46P Gene

RNA, U6 small nuclear 46, pseudogene

TRL-TAG1-1 Gene

transfer RNA-Leu (TAG) 1-1

CDKN1A-AS1 Gene

CDKN1A antisense RNA 1

ZNF252P-AS1 Gene

ZNF252P antisense RNA 1

TRN-GTT17-1 Gene

transfer RNA-Asn (GTT) 17-1

COL18A1-AS2 Gene

COL18A1 antisense RNA 2

NMTRL-TAA1-1 Gene

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

TRQ-CTG8-2 Gene

transfer RNA-Gln (CTG) 8-2

LNX1-AS2 Gene

LNX1 antisense RNA 2

IGFBP7-AS1 Gene

IGFBP7 antisense RNA 1

WWC2-AS2 Gene

WWC2 antisense RNA 2

PIRC94 Gene

piwi-interacting RNA cluster 94

PIRC97 Gene

piwi-interacting RNA cluster 97

PIRC99 Gene

piwi-interacting RNA cluster 99

PIRC98 Gene

piwi-interacting RNA cluster 98

LINC01547 Gene

long intergenic non-protein coding RNA 1547

LINC01546 Gene

long intergenic non-protein coding RNA 1546

LINC01545 Gene

long intergenic non-protein coding RNA 1545

LINC01549 Gene

long intergenic non-protein coding RNA 1549

LINC01548 Gene

long intergenic non-protein coding RNA 1548

TRT-CGT2-1 Gene

transfer RNA-Thr (CGT) 2-1

NHS-AS1 Gene

NHS antisense RNA 1

LINC00633 Gene

long intergenic non-protein coding RNA 633

LINC00630 Gene

long intergenic non-protein coding RNA 630

LINC00636 Gene

long intergenic non-protein coding RNA 636

LINC00637 Gene

long intergenic non-protein coding RNA 637

LINC00635 Gene

long intergenic non-protein coding RNA 635

LINC00638 Gene

long intergenic non-protein coding RNA 638

LINC00639 Gene

long intergenic non-protein coding RNA 639

DLGAP4-AS1 Gene

DLGAP4 antisense RNA 1

NLGN1-AS1 Gene

NLGN1 antisense RNA 1

KRTAP5-AS1 Gene

KRTAP5-1/KRTAP5-2 antisense RNA 1

MMP25-AS1 Gene

MMP25 antisense RNA 1

TRK-TTT2-1 Gene

transfer RNA-Lys (TTT) 2-1

ZMYM4-AS1 Gene

ZMYM4 antisense RNA 1

NAV2-AS2 Gene

NAV2 antisense RNA 2

NAV2-AS3 Gene

NAV2 antisense RNA 3

NAV2-AS4 Gene

NAV2 antisense RNA 4

NAV2-AS5 Gene

NAV2 antisense RNA 5

PGM5P4-AS1 Gene

PGM5P4 antisense RNA 1

SNORD45A Gene

small nucleolar RNA, C/D box 45A

TRUND-NNN6-1 Gene

transfer RNA-undetermined (NNN) 6-1

SYNCRIP Gene

synaptotagmin binding, cytoplasmic RNA interacting protein

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

TRQ-CTG18-1 Gene

transfer RNA-Gln (CTG) 18-1

RNGTT Gene

RNA guanylyltransferase and 5'-phosphatase

SNORD111B Gene

small nucleolar RNA, C/D box 111B

LINC01348 Gene

long intergenic non-protein coding RNA 1348

TMEM246-AS1 Gene

TMEM246 antisense RNA 1

TRG-TCC6-1 Gene

transfer RNA-Gly (TCC) 6-1

TONSL-AS1 Gene

TONSL antisense RNA 1

ZNF529-AS1 Gene

ZNF529 antisense RNA 1

SLC16A12-AS1 Gene

SLC16A12 antisense RNA 1

RNU5E-6P Gene

RNA, U5E small nuclear 6, pseudogene

RNU7-24P Gene

RNA, U7 small nuclear 24 pseudogene

TRC-GCA11-1 Gene

transfer RNA-Cys (GCA) 11-1

RBMY1HP Gene

RNA binding motif protein, Y-linked, family 1, member H, pseudogene

LINC01550 Gene

long intergenic non-protein coding RNA 1550

RBM26-AS1 Gene

RBM26 antisense RNA 1

LINC01551 Gene

long intergenic non-protein coding RNA 1551

LINC01552 Gene

long intergenic non-protein coding RNA 1552

NOP14-AS1 Gene

NOP14 antisense RNA 1

PRKX-AS1 Gene

PRKX antisense RNA 1

DEPDC1-AS1 Gene

DEPDC1 antisense RNA 1

RN7SL1 Gene

RNA, 7SL, cytoplasmic 1

The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL1, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008]

RN7SL2 Gene

RNA, 7SL, cytoplasmic 2

The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL2, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008]

RN7SL3 Gene

RNA, 7SL, cytoplasmic 3

The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL3, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008]

TRL-AAG5-1 Gene

transfer RNA-Leu (AAG) 5-1

TRA-TGC1-1 Gene

transfer RNA-Ala (TGC) 1-1

STK24-AS1 Gene

STK24 antisense RNA 1

NAGPA-AS1 Gene

NAGPA antisense RNA 1

LINC00879 Gene

long intergenic non-protein coding RNA 879

LINC00877 Gene

long intergenic non-protein coding RNA 877

LINC00870 Gene

long intergenic non-protein coding RNA 870

LINC00871 Gene

long intergenic non-protein coding RNA 871

LINC00265-3P Gene

long intergenic non-protein coding RNA 265-3, pseudogene

RNA5SP485 Gene

RNA, 5S ribosomal pseudogene 485

RNA5SP486 Gene

RNA, 5S ribosomal pseudogene 486

RNA5SP487 Gene

RNA, 5S ribosomal pseudogene 487

PLCXD2-AS1 Gene

PLCXD2 antisense RNA 1

LOC100421100 Gene

RNA terminal phosphate cyclase-like 1 pseudogene

TRQ-CTG1-5 Gene

transfer RNA-Gln (CTG) 1-5

LINC00969 Gene

long intergenic non-protein coding RNA 969

LINC00404 Gene

long intergenic non-protein coding RNA 404

LINC00400 Gene

long intergenic non-protein coding RNA 400

LINC00403 Gene

long intergenic non-protein coding RNA 403

LINC00402 Gene

long intergenic non-protein coding RNA 402

LINC00408 Gene

long intergenic non-protein coding RNA 408

JMJD1C-AS1 Gene

JMJD1C antisense RNA 1

NXF2B Gene

nuclear RNA export factor 2B

MYB-AS1 Gene

MYB antisense RNA 1

RNA5SP457 Gene

RNA, 5S ribosomal pseudogene 457

RNA5SP456 Gene

RNA, 5S ribosomal pseudogene 456

RNA5SP455 Gene

RNA, 5S ribosomal pseudogene 455

RNA5SP454 Gene

RNA, 5S ribosomal pseudogene 454

RNA5SP453 Gene

RNA, 5S ribosomal pseudogene 453

RNA5SP452 Gene

RNA, 5S ribosomal pseudogene 452

RNA5SP451 Gene

RNA, 5S ribosomal pseudogene 451

RNA5SP450 Gene

RNA, 5S ribosomal pseudogene 450

RNA5SP459 Gene

RNA, 5S ribosomal pseudogene 459

RNU1-28P Gene

RNA, U1 small nuclear 28, pseudogene

TBL1XR1-AS1 Gene

TBL1XR1 antisense RNA 1

RNA5SP23 Gene

RNA, 5S ribosomal pseudogene 23

RNU1-13P Gene

RNA, U1 small nuclear 13, pseudogene

PSMD5-AS1 Gene

PSMD5 antisense RNA 1 (head to head)

RNU7-5P Gene

RNA, U7 small nuclear 5 pseudogene

CDKN2B-AS1 Gene

CDKN2B antisense RNA 1

This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]

TRV-CAC4-1 Gene

transfer RNA-Val (CAC) 4-1

RNA5SP21 Gene

RNA, 5S ribosomal pseudogene 21

RNA5SP20 Gene

RNA, 5S ribosomal pseudogene 20

RNA5SP22 Gene

RNA, 5S ribosomal pseudogene 22

RNA5SP25 Gene

RNA, 5S ribosomal pseudogene 25

RNA5SP24 Gene

RNA, 5S ribosomal pseudogene 24

RNA5SP27 Gene

RNA, 5S ribosomal pseudogene 27

RNA5SP29 Gene

RNA, 5S ribosomal pseudogene 29

RNU6ATAC5P Gene

RNA, U6atac small nuclear 5, pseudogene

ST3GAL5-AS1 Gene

ST3GAL5 antisense RNA 1 (head to head)

ADAMTS19-AS1 Gene

ADAMTS19 antisense RNA 1

CPEB2-AS1 Gene

CPEB2 antisense RNA 1 (head to head)

RNA5SP407 Gene

RNA, 5S ribosomal pseudogene 407

LINC01510 Gene

long intergenic non-protein coding RNA 1510

LINC01114 Gene

long intergenic non-protein coding RNA 1114

LINC01115 Gene

long intergenic non-protein coding RNA 1115

LINC01116 Gene

long intergenic non-protein coding RNA 1116

LINC01117 Gene

long intergenic non-protein coding RNA 1117

LINC01111 Gene

long intergenic non-protein coding RNA 1111

LINC01118 Gene

long intergenic non-protein coding RNA 1118

IDH1-AS1 Gene

IDH1 antisense RNA 1

LINC01514 Gene

long intergenic non-protein coding RNA 1514

LINC00244 Gene

long intergenic non-protein coding RNA 244

LINC00243 Gene

long intergenic non-protein coding RNA 243

LINC00242 Gene

long intergenic non-protein coding RNA 242

LINC00240 Gene

long intergenic non-protein coding RNA 240

LINC00939 Gene

long intergenic non-protein coding RNA 939

LINC00938 Gene

long intergenic non-protein coding RNA 938

LINC00930 Gene

long intergenic non-protein coding RNA 930

LINC00933 Gene

long intergenic non-protein coding RNA 933

LINC00935 Gene

long intergenic non-protein coding RNA 935

LINC00934 Gene

long intergenic non-protein coding RNA 934

LINC00937 Gene

long intergenic non-protein coding RNA 937

RNA5SP108 Gene

RNA, 5S ribosomal pseudogene 108

LINC00443 Gene

long intergenic non-protein coding RNA 443

LINC01099 Gene

long intergenic non-protein coding RNA 1099

CSDC2 Gene

cold shock domain containing C2, RNA binding

NDUFV2-AS1 Gene

NDUFV2 antisense RNA 1

PLCH1-AS2 Gene

PLCH1 antisense RNA 2

DOCK9-AS2 Gene

DOCK9 antisense RNA 2 (head to head)

ACTN1-AS1 Gene

ACTN1 antisense RNA 1

RNA5SP248 Gene

RNA, 5S ribosomal pseudogene 248

TRA-AGC8-1 Gene

transfer RNA-Ala (AGC) 8-1

TRA-AGC8-2 Gene

transfer RNA-Ala (AGC) 8-2

TRF-GAA5-1 Gene

transfer RNA-Phe (GAA) 5-1

TRG-CCC1-2 Gene

transfer RNA-Gly (CCC) 1-2

TRS-TGA2-1 Gene

transfer RNA-Ser (TGA) 2-1

Hong et al. (1987) [PubMed 3648680] sequenced a human serine (UGA) tRNA by the dideoxysequencing method. The gene forms a typical cloverleaf structure with all appropriate conserved bases. It shows high nucleotide sequence homology with a previously sequenced serine tRNA (Yoo, 1984).[supplied by OMIM, Sep 2009]

RNA5SP364 Gene

RNA, 5S ribosomal pseudogene 364

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]

TRN-GTT14-1 Gene

transfer RNA-Asn (GTT) 14-1

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]

HAS2-AS1 Gene

HAS2 antisense RNA 1

SSTR5-AS1 Gene

SSTR5 antisense RNA 1

JRKL-AS1 Gene

JRKL antisense RNA 1

FREM2-AS1 Gene

FREM2 antisense RNA 1

MAMDC2-AS1 Gene

MAMDC2 antisense RNA 1

LINC00322 Gene

long intergenic non-protein coding RNA 322

GATA3-AS1 Gene

GATA3 antisense RNA 1

ISX-AS1 Gene

ISX antisense RNA 1

RNA5SP178 Gene

RNA, 5S ribosomal pseudogene 178

RNA5SP179 Gene

RNA, 5S ribosomal pseudogene 179

RNA5SP171 Gene

RNA, 5S ribosomal pseudogene 171

RNA5SP173 Gene

RNA, 5S ribosomal pseudogene 173

BHLHE40-AS1 Gene

BHLHE40 antisense RNA 1

TRA-AGC21-1 Gene

transfer RNA-Ala (AGC) 21-1

ZFHX4-AS1 Gene

ZFHX4 antisense RNA 1

RNR2 Gene

RNA, ribosomal cluster 2

The genes encoding the rRNA components of the ribosome are organized as tandem rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. Each rDNA unit encodes a 45S rRNA which serves as the precursor for an 18S, 5.8S and 28S rRNA. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. This ribosomal repeating unit located on chromosome 14 is not currently annotated on the reference genome. [provided by RefSeq, Mar 2009]

RNR3 Gene

RNA, ribosomal cluster 3

The genes encoding the rRNA components of the ribosome are organized as tandem rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. Each rDNA unit encodes a 45S rRNA which serves as the precursor for an 18S, 5.8S and 28S rRNA. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. This ribosomal repeating unit located on chromosome 15 is not currently annotated on the reference genome. [provided by RefSeq, Mar 2009]

RNR1 Gene

RNA, ribosomal cluster 1

The genes encoding the rRNA components of the ribosome are organized as tandem rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. Each rDNA unit encodes a 45S rRNA which serves as the precursor for an 18S, 5.8S and 28S rRNA. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. This ribosomal repeating unit located on chromosome 13 is not currently annotated on the reference genome. [provided by RefSeq, Mar 2009]

RNR4 Gene

RNA, ribosomal cluster 4

The genes encoding the rRNA components of the ribosome are organized as tandem rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. Each rDNA unit encodes a 45S rRNA which serves as the precursor for an 18S, 5.8S and 28S rRNA. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. This ribosomal repeating unit located on chromosome 21 is not currently annotated on the reference genome. [provided by RefSeq, Mar 2009]

RNR5 Gene

RNA, ribosomal cluster 5

The genes encoding the rRNA components of the ribosome are organized as tandem rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. Each rDNA unit encodes a 45S rRNA which serves as the precursor for an 18S, 5.8S and 28S rRNA. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. This ribosomal repeating unit located on chromosome 22 is not currently annotated on the reference genome. [provided by RefSeq, Mar 2009]

TRK-TTT7-1 Gene

transfer RNA-Lys (TTT) 7-1

PIRC19 Gene

piwi-interacting RNA cluster 19

PIRC18 Gene

piwi-interacting RNA cluster 18

PIRC15 Gene

piwi-interacting RNA cluster 15

PIRC14 Gene

piwi-interacting RNA cluster 14

PIRC17 Gene

piwi-interacting RNA cluster 17

PIRC16 Gene

piwi-interacting RNA cluster 16

PIRC11 Gene

piwi-interacting RNA cluster 11

PIRC10 Gene

piwi-interacting RNA cluster 10

PIRC13 Gene

piwi-interacting RNA cluster 13

PIRC12 Gene

piwi-interacting RNA cluster 12

STARD4-AS1 Gene

STARD4 antisense RNA 1

SNORD12C Gene

small nucleolar RNA, C/D box 12C

SNORD12B Gene

small nucleolar RNA, C/D box 12B

LRRC75A-AS1 Gene

LRRC75A antisense RNA 1

SNORD123 Gene

small nucleolar RNA, C/D box 123

SNORD127 Gene

small nucleolar RNA, C/D box 127

SNORD124 Gene

small nucleolar RNA, C/D box 124

RNA5SP102 Gene

RNA, 5S ribosomal pseudogene 102

LINC01327 Gene

long intergenic non-protein coding RNA 1327

LINC01324 Gene

long intergenic non-protein coding RNA 1324

LINC01322 Gene

long intergenic non-protein coding RNA 1322

LINC01320 Gene

long intergenic non-protein coding RNA 1320

DLGAP1-AS2 Gene

DLGAP1 antisense RNA 2

DLGAP1-AS3 Gene

DLGAP1 antisense RNA 3

DLGAP1-AS4 Gene

DLGAP1 antisense RNA 4

DLGAP1-AS5 Gene

DLGAP1 antisense RNA 5

TRR-CCG1-1 Gene

transfer RNA-Arg (CCG) 1-1

RNU7-62P Gene

RNA, U7 small nuclear 62 pseudogene

PAXIP1-AS1 Gene

PAXIP1 antisense RNA 1 (head to head)

PAXIP1-AS2 Gene

PAXIP1 antisense RNA 2

TTC39A-AS1 Gene

TTC39A antisense RNA 1

SSSCA1-AS1 Gene

SSSCA1 antisense RNA 1 (head to head)

TAPT1-AS1 Gene

TAPT1 antisense RNA 1 (head to head)

ZFAT-AS1 Gene

ZFAT antisense RNA 1

This gene encodes a small antisense RNA that may be involved in regulating the sense strand locus, zinc finger and AT hook domain containing. This RNA may play a role in B cell function. A single nucleotide polymorphism in the promoter of this gene is associated with an increased risk of autoimmune thyroid disease.[provided by RefSeq, Jan 2010]

RASGRF2-AS1 Gene

RASGRF2 antisense RNA 1

RNU6-79P Gene

RNA, U6 small nuclear 79, pseudogene

TRA-TGC10-1 Gene

transfer RNA-Ala (TGC) 10-1

TRNAH-GUG Gene

transfer RNA histidine(anticodon GUG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

TRSUP-TTA1-1 Gene

transfer RNA suppressor (TTA) 1-1

ROR1-AS1 Gene

ROR1 antisense RNA 1

BSN-AS2 Gene

BSN antisense RNA 2 (head to head)

TTLL10-AS1 Gene

TTLL10 antisense RNA 1

TRL-CAG1-6 Gene

transfer RNA-Leu (CAG) 1-6

TRL-CAG1-7 Gene

transfer RNA-Leu (CAG) 1-7

TRL-CAG1-4 Gene

transfer RNA-Leu (CAG) 1-4

TRL-CAG1-5 Gene

transfer RNA-Leu (CAG) 1-5

TRL-CAG1-2 Gene

transfer RNA-Leu (CAG) 1-2

TRL-CAG1-3 Gene

transfer RNA-Leu (CAG) 1-3

TRL-CAG1-1 Gene

transfer RNA-Leu (CAG) 1-1

TRNAY-GUA Gene

transfer RNA tyrosine (anticodon GUA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

RNU4-7P Gene

RNA, U4 small nuclear 7, pseudogene

MYO16-AS2 Gene

MYO16 antisense RNA 2

TRA-AGC10-1 Gene

transfer RNA-Ala (AGC) 10-1

TRT-AGT4-1 Gene

transfer RNA-Thr (AGT) 4-1

TRR-TCT1-1 Gene

transfer RNA-Arg (TCT) 1-1

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

TRN-GTT9-2 Gene

transfer RNA-Asn (GTT) 9-2

SMAD5-AS1 Gene

SMAD5 antisense RNA 1

CACTIN-AS1 Gene

CACTIN antisense RNA 1

SRRM2-AS1 Gene

SRRM2 antisense RNA 1

DPYD-AS1 Gene

DPYD antisense RNA 1

DPYD-AS2 Gene

DPYD antisense RNA 2

TRS-TGA1-1 Gene

transfer RNA-Ser (TGA) 1-1

TRQ-CTG9-1 Gene

transfer RNA-Gln (CTG) 9-1

LINC00433 Gene

long intergenic non-protein coding RNA 433

TRR-TCT4-1 Gene

transfer RNA-Arg (TCT) 4-1

RNASEH1-AS1 Gene

RNASEH1 antisense RNA 1

GPC5-AS1 Gene

GPC5 antisense RNA 1

NIPBL-AS1 Gene

NIPBL antisense RNA 1 (head to head)

LINC01424 Gene

long intergenic non-protein coding RNA 1424

LINC01425 Gene

long intergenic non-protein coding RNA 1425

LINC01426 Gene

long intergenic non-protein coding RNA 1426

LINC01427 Gene

long intergenic non-protein coding RNA 1427

LINC01420 Gene

long intergenic non-protein coding RNA 1420

LINC01422 Gene

long intergenic non-protein coding RNA 1422

LINC01423 Gene

long intergenic non-protein coding RNA 1423

LINC01428 Gene

long intergenic non-protein coding RNA 1428

ZFY-AS1 Gene

ZFY antisense RNA 1

LINC01280 Gene

long intergenic non-protein coding RNA 1280

LINC01281 Gene

long intergenic non-protein coding RNA 1281

LINC01282 Gene

long intergenic non-protein coding RNA 1282

LINC01284 Gene

long intergenic non-protein coding RNA 1284

LINC01285 Gene

long intergenic non-protein coding RNA 1285

LINC01287 Gene

long intergenic non-protein coding RNA 1287

LINC01288 Gene

long intergenic non-protein coding RNA 1288

LINC01289 Gene

long intergenic non-protein coding RNA 1289

WWC3-AS1 Gene

WWC3 antisense RNA 1

LINC00488 Gene

long intergenic non-protein coding RNA 488

LINC00484 Gene

long intergenic non-protein coding RNA 484

LINC00487 Gene

long intergenic non-protein coding RNA 487

LINC00486 Gene

long intergenic non-protein coding RNA 486

LINC00483 Gene

long intergenic non-protein coding RNA 483

LINC00482 Gene

long intergenic non-protein coding RNA 482

VAC14-AS1 Gene

VAC14 antisense RNA 1

SEPSECS-AS1 Gene

SEPSECS antisense RNA 1 (head to head)

TRK-TTT3-1 Gene

transfer RNA-Lys (TTT) 3-1

TRK-TTT3-2 Gene

transfer RNA-Lys (TTT) 3-2

TRK-TTT3-3 Gene

transfer RNA-Lys (TTT) 3-3

TRK-TTT3-4 Gene

transfer RNA-Lys (TTT) 3-4

DNAJB8-AS1 Gene

DNAJB8 antisense RNA 1

PAQR9-AS1 Gene

PAQR9 antisense RNA 1

TRQ-CTG15-1 Gene

transfer RNA-Gln (CTG) 15-1

TRM-CAT2-1 Gene

transfer RNA-Met (CAT) 2-1

USP12-AS2 Gene

USP12 antisense RNA 2 (head to head)

RNU6-69P Gene

RNA, U6 small nuclear 69, pseudogene

LINC00266-4P Gene

long intergenic non-protein coding RNA 266-4, pseudogene

EGFLAM-AS3 Gene

EGFLAM antisense RNA 3

SNORA9 Gene

small nucleolar RNA, H/ACA box 9

SNORA8 Gene

small nucleolar RNA, H/ACA box 8

SNORA1 Gene

small nucleolar RNA, H/ACA box 1

SNORA4 Gene

small nucleolar RNA, H/ACA box 4

SNORA6 Gene

small nucleolar RNA, H/ACA box 6

ARHGEF3-AS1 Gene

ARHGEF3 antisense RNA 1

EXTL3-AS1 Gene

EXTL3 antisense RNA 1

RBM17P4 Gene

RNA binding motif protein 17 pseudogene 4

RBM17P2 Gene

RNA binding motif protein 17 pseudogene 2

RBM17P3 Gene

RNA binding motif protein 17 pseudogene 3

RBM17P1 Gene

RNA binding motif protein 17 pseudogene 1

NFIA-AS2 Gene

NFIA antisense RNA 2

ZNF30-AS1 Gene

ZNF30 antisense RNA 1

RNU1-20P Gene

RNA, U1 small nuclear 20, pseudogene

IBA57-AS1 Gene

IBA57 antisense RNA 1 (head to head)

DRAIC Gene

downregulated RNA in cancer, inhibitor of cell invasion and migration

HAND2-AS1 Gene

HAND2 antisense RNA 1 (head to head)

KLHL6-AS1 Gene

KLHL6 antisense RNA 1

RRP1 Gene

ribosomal RNA processing 1

The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq, Jul 2008]

RRP8 Gene

ribosomal RNA processing 8, methyltransferase, homolog (yeast)

RRP9 Gene

ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)

This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]

HOTAIRM1 Gene

HOXA transcript antisense RNA, myeloid-specific 1

This non-coding locus is located in the HOX gene cluster. Transcription of this locus is induced by retinoic acid, and transcripts likely function in regulation of myelopoiesis through transcriptional activation of several genes in the HOXA cluster, in addition to several beta-2 integrins. [provided by RefSeq, Jan 2013]

RBMY2GP Gene

RNA binding motif protein, Y-linked, family 2, member G pseudogene

TRY-GTA10-1 Gene

transfer RNA-Tyr (GTA) 10-1

ITPR1-AS1 Gene

ITPR1 antisense RNA 1 (head to head)

DBR1 Gene

debranching RNA lariats 1

The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011]

LYST-AS1 Gene

LYST antisense RNA 1

NDP-AS1 Gene

NDP antisense RNA 1

RNU7-47P Gene

RNA, U7 small nuclear 47 pseudogene

TRNAL-UAG Gene

transfer RNA leucine (anticodon UAG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

ADGRL3-AS1 Gene

adhesion G protein-coupled receptor L3 antisense RNA 1

LINC01363 Gene

long intergenic non-protein coding RNA 1363

TRR-TCG1-1 Gene

transfer RNA-Arg (TCG) 1-1

RBM26 Gene

RNA binding motif protein 26

RBM27 Gene

RNA binding motif protein 27

RBM24 Gene

RNA binding motif protein 24

RBM25 Gene

RNA binding motif protein 25

RBM22 Gene

RNA binding motif protein 22

This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]

RBM23 Gene

RNA binding motif protein 23

This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RBM20 Gene

RNA binding motif protein 20

This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]

RBM28 Gene

RNA binding motif protein 28

The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

TRA-AGC1-1 Gene

transfer RNA-Ala (AGC) 1-1

RNU7-86P Gene

RNA, U7 small nuclear 86 pseudogene

SNORD121B Gene

small nucleolar RNA, C/D box 121B

SNORD121A Gene

small nucleolar RNA, C/D box 121A

TRR-TCT5-1 Gene

transfer RNA-Arg (TCT) 5-1

NMTRQ-TTG8-1 Gene

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

RAD51-AS1 Gene

RAD51 antisense RNA 1 (head to head)

PIRC96 Gene

piwi-interacting RNA cluster 96

PIRC91 Gene

piwi-interacting RNA cluster 91

LMCD1-AS1 Gene

LMCD1 antisense RNA 1 (head to head)

TRR-CCT1-1 Gene

transfer RNA-Arg (CCT) 1-1

PLS1-AS1 Gene

PLS1 antisense RNA 1

RNU7-13P Gene

RNA, U7 small nuclear 13 pseudogene

LINC00526 Gene

long intergenic non-protein coding RNA 526

LINC00527 Gene

long intergenic non-protein coding RNA 527

LINC00524 Gene

long intergenic non-protein coding RNA 524

LINC00525 Gene

long intergenic non-protein coding RNA 525

LINC00523 Gene

long intergenic non-protein coding RNA 523

LINC00520 Gene

long intergenic non-protein coding RNA 520

LINC00521 Gene

long intergenic non-protein coding RNA 521

LINC00528 Gene

long intergenic non-protein coding RNA 528

LINC00529 Gene

long intergenic non-protein coding RNA 529

RNU6-36P Gene

RNA, U6 small nuclear 36, pseudogene

RNA5SP235 Gene

RNA, 5S ribosomal pseudogene 235

ATP13A5-AS1 Gene

ATP13A5 antisense RNA 1

TRQ-CTG14-1 Gene

transfer RNA-Gln (CTG) 14-1

DARS-AS1 Gene

DARS antisense RNA 1

SYNPR-AS1 Gene

SYNPR antisense RNA 1

REXO1L6P Gene

REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6, pseudogene

TRM-CAT3-2 Gene

transfer RNA-Met (CAT) 3-2

TRM-CAT3-1 Gene

transfer RNA-Met (CAT) 3-1

CLDN10-AS1 Gene

CLDN10 antisense RNA 1

RNA5SP167 Gene

RNA, 5S ribosomal pseudogene 167

RNA5SP481 Gene

RNA, 5S ribosomal pseudogene 481

LINC01499 Gene

long intergenic non-protein coding RNA 1499

RNU4ATAC2P Gene

RNA, U4atac small nuclear 2, pseudogene

NRDE2 Gene

NRDE-2, necessary for RNA interference, domain containing

RNA5SP249 Gene

RNA, 5S ribosomal pseudogene 249

RNA5SP246 Gene

RNA, 5S ribosomal pseudogene 246

RNA5SP247 Gene

RNA, 5S ribosomal pseudogene 247

RNA5SP244 Gene

RNA, 5S ribosomal pseudogene 244

RNA5SP245 Gene

RNA, 5S ribosomal pseudogene 245

RNA5SP242 Gene

RNA, 5S ribosomal pseudogene 242

RNA5SP240 Gene

RNA, 5S ribosomal pseudogene 240

RNA5SP241 Gene

RNA, 5S ribosomal pseudogene 241

USP3-AS1 Gene

USP3 antisense RNA 1

PPP1R26-AS1 Gene

PPP1R26 antisense RNA 1

RBMS1P1 Gene

RNA binding motif, single stranded interacting protein 1 pseudogene 1

TSIX Gene

TSIX transcript, XIST antisense RNA

In mammals, dosage compensation of genes on the X chromosome occurs by X inactivation, which is regulated in cis by the X-inactivation center (XIC) and expression of the XIST non-coding RNA. This gene expresses a non-coding antisense transcript across the 3' end of the XIST locus, and is coexpressed with XIST only from the inactive X chromosome. The mouse ortholog of this locus is required for imprinted X inactivation in extraembryonic tissues and silences Xist through modification of the chromatin structure in the Xist promoter region. In contrast, imprinted X inactivation does not occur in human extraembryonic tissues and transcripts from this locus do not repress XIST expression or affect random X chromosome inactivation in embryonic cells. This transcript is thought to be unspliced and extend over more than 30 kb, but its exact nature has not been determined. [provided by RefSeq, Jul 2008]

TRM-CAT6-1 Gene

transfer RNA-Met (CAT) 6-1

RNU6-64P Gene

RNA, U6 small nuclear 64, pseudogene

TRV-CAC5-1 Gene

transfer RNA-Val (CAC) 5-1

OLMALINC Gene

oligodendrocyte maturation-associated long intergenic non-coding RNA

FSIP2-AS1 Gene

FSIP2 antisense RNA 1

TRH-GTG1-7 Gene

transfer RNA-His (GTG) 1-7

TRH-GTG1-6 Gene

transfer RNA-His (GTG) 1-6

TRH-GTG1-5 Gene

transfer RNA-His (GTG) 1-5

TRH-GTG1-4 Gene

transfer RNA-His (GTG) 1-4

TRH-GTG1-1 Gene

transfer RNA-His (GTG) 1-1

BMP7-AS1 Gene

BMP7 antisense RNA 1

C20ORF166-AS1 Gene

C20orf166 antisense RNA 1

LINC00200 Gene

long intergenic non-protein coding RNA 200

ERICH3-AS1 Gene

ERICH3 antisense RNA 1

LINC00207 Gene

long intergenic non-protein coding RNA 207

RNA5SP400 Gene

RNA, 5S ribosomal pseudogene 400

HNRNPDP1 Gene

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

CDKN2A-AS1 Gene

CDKN2A antisense RNA 1 (head to head)

LINC00052 Gene

long intergenic non-protein coding RNA 52

TRS-CGA3-1 Gene

transfer RNA-Ser (CGA) 3-1

SUCLA2-AS1 Gene

SUCLA2 antisense RNA 1

PIRC105 Gene

piwi-interacting RNA cluster 105

PCED1B-AS1 Gene

PCED1B antisense RNA 1

TRE-CTC8-1 Gene

transfer RNA-Glu (CTC) 8-1

LINC00165 Gene

long intergenic non-protein coding RNA 165

TRNAR-UCU Gene

transfer RNA arginine (anticodon UCU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

TRF-GAA12-1 Gene

transfer RNA-Phe (GAA) 12-1

LINC01252 Gene

long intergenic non-protein coding RNA 1252

TRNAR-UCG Gene

transfer RNA arginine (anticodon UCG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

TRF-GAA8-1 Gene

transfer RNA-Phe (GAA) 8-1

LINC01256 Gene

long intergenic non-protein coding RNA 1256

LINC01254 Gene

long intergenic non-protein coding RNA 1254

LINC01258 Gene

long intergenic non-protein coding RNA 1258

LOC100506431 Gene

B2 RNA

SDCBP2-AS1 Gene

SDCBP2 antisense RNA 1

TRI-TAT1-1 Gene

transfer RNA-Ile (TAT) 1-1

EXOC3-AS1 Gene

EXOC3 antisense RNA 1

LINC01590 Gene

long intergenic non-protein coding RNA 1590

LINC01591 Gene

long intergenic non-protein coding RNA 1591

LINC01592 Gene

long intergenic non-protein coding RNA 1592

LINC01594 Gene

long intergenic non-protein coding RNA 1594

LINC01599 Gene

long intergenic non-protein coding RNA 1599

LMF1-AS1 Gene

LMF1 antisense RNA 1

LINC01046 Gene

long intergenic non-protein coding RNA 1046

LINC01047 Gene

long intergenic non-protein coding RNA 1047

LINC01044 Gene

long intergenic non-protein coding RNA 1044

LINC01043 Gene

long intergenic non-protein coding RNA 1043

LINC01040 Gene

long intergenic non-protein coding RNA 1040

LINC01049 Gene

long intergenic non-protein coding RNA 1049

TRI-AAT4-1 Gene

transfer RNA-Ile (AAT) 4-1

FLG-AS1 Gene

FLG antisense RNA 1

TRE-TTC3-1 Gene

transfer RNA-Glu (TTC) 3-1

IFNG-AS1 Gene

IFNG antisense RNA 1

LINC00311 Gene

long intergenic non-protein coding RNA 311

LINC00310 Gene

long intergenic non-protein coding RNA 310

LINC00313 Gene

long intergenic non-protein coding RNA 313

LINC00312 Gene

long intergenic non-protein coding RNA 312

LINC00315 Gene

long intergenic non-protein coding RNA 315

LINC00314 Gene

long intergenic non-protein coding RNA 314

LINC00316 Gene

long intergenic non-protein coding RNA 316

TRL-TAA1-1 Gene

transfer RNA-Leu (TAA) 1-1

OSBPL10-AS1 Gene

OSBPL10 antisense RNA 1

TRR-ACG1-1 Gene

transfer RNA-Arg (ACG) 1-1

TRR-ACG1-2 Gene

transfer RNA-Arg (ACG) 1-2

FANK1-AS1 Gene

FANK1 antisense RNA 1

DLX6-AS1 Gene

DLX6 antisense RNA 1

DLX6-AS2 Gene

DLX6 antisense RNA 2

RNY3P6 Gene

RNA, Ro-associated Y3 pseudogene 6

RNY3P7 Gene

RNA, Ro-associated Y3 pseudogene 7

RNY3P4 Gene

RNA, Ro-associated Y3 pseudogene 4

RNY3P5 Gene

RNA, Ro-associated Y3 pseudogene 5

RNY3P2 Gene

RNA, Ro-associated Y3 pseudogene 2

RNY3P3 Gene

RNA, Ro-associated Y3 pseudogene 3

RNY3P9 Gene

RNA, Ro-associated Y3 pseudogene 9

MAPT-AS1 Gene

MAPT antisense RNA 1

LLPH-AS1 Gene

LLPH antisense RNA 1 (head to head)

ARHGAP26-AS1 Gene

ARHGAP26 antisense RNA 1

LINCMD1 Gene

long intergenic non-protein coding RNA, muscle differentiation 1

TRK-CTT13-1 Gene

transfer RNA-Lys (CTT) 13-1

RNA5SP229 Gene

RNA, 5S ribosomal pseudogene 229

ZSWIM8-AS1 Gene

ZSWIM8 antisense RNA 1

TMC3-AS1 Gene

TMC3 antisense RNA 1

ZFR2 Gene

zinc finger RNA binding protein 2

RNA5SP225 Gene

RNA, 5S ribosomal pseudogene 225

RNU5B-5P Gene

RNA, U5B small nuclear 5, pseudogene

LINC-ROR Gene

long intergenic non-protein coding RNA, regulator of reprogramming

LINC00571 Gene

long intergenic non-protein coding RNA 571

TRV-CAC1-1 Gene

transfer RNA-Val (CAC) 1-1

TRV-CAC1-2 Gene

transfer RNA-Val (CAC) 1-2

TRV-CAC1-3 Gene

transfer RNA-Val (CAC) 1-3

TRV-CAC1-5 Gene

transfer RNA-Val (CAC) 1-5

TRV-CAC1-6 Gene

transfer RNA-Val (CAC) 1-6

LINC01209 Gene

long intergenic non-protein coding RNA 1209

LINC01201 Gene

long intergenic non-protein coding RNA 1201

LINC01202 Gene

long intergenic non-protein coding RNA 1202

LINC01203 Gene

long intergenic non-protein coding RNA 1203

LINC01204 Gene

long intergenic non-protein coding RNA 1204

LINC01205 Gene

long intergenic non-protein coding RNA 1205

LINC01206 Gene

long intergenic non-protein coding RNA 1206

LINC01207 Gene

long intergenic non-protein coding RNA 1207

RNU6-63P Gene

RNA, U6 small nuclear 63, pseudogene

SNORA74A Gene

small nucleolar RNA, H/ACA box 74A

SNORA74B Gene

small nucleolar RNA, H/ACA box 74B

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

MAST4-AS1 Gene

MAST4 antisense RNA 1

RNU7-54P Gene

RNA, U7 small nuclear 54 pseudogene

RNU5A-2P Gene

RNA, U5A small nuclear 2, pseudogene

OTUD6B-AS1 Gene

OTUD6B antisense RNA 1 (head to head)

SNORD115-43 Gene

small nucleolar RNA, C/D box 115-43

SNORD115-41 Gene

small nucleolar RNA, C/D box 115-41

SNORD115-47 Gene

small nucleolar RNA, C/D box 115-47

KLF3-AS1 Gene

KLF3 antisense RNA 1

SNORD1A Gene

small nucleolar RNA, C/D box 1A

SNORD1B Gene

small nucleolar RNA, C/D box 1B

SNORD1C Gene

small nucleolar RNA, C/D box 1C

LANCL1-AS1 Gene

LANCL1 antisense RNA 1

SNORD16 Gene

small nucleolar RNA, C/D box 16

SNORD10 Gene

small nucleolar RNA, C/D box 10

SNORD11 Gene

small nucleolar RNA, C/D box 11

SNORD19 Gene

small nucleolar RNA, C/D box 19

MCM8-AS1 Gene

MCM8 antisense RNA 1

TRS-AGA7-1 Gene

transfer RNA-Ser (AGA) 7-1

CYYR1-AS1 Gene

cysteine/tyrosine-rich 1 antisense RNA 1

TRE-TTC2-1 Gene

transfer RNA-Glu (TTC) 2-1

GCC2-AS1 Gene

GCC2 antisense RNA 1

NMTRQ-TTG2-1 Gene

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

TRI-AAT5-2 Gene

transfer RNA-Ile (AAT) 5-2

TRI-AAT5-3 Gene

transfer RNA-Ile (AAT) 5-3

TRI-AAT5-1 Gene

transfer RNA-Ile (AAT) 5-1

TRI-AAT5-4 Gene

transfer RNA-Ile (AAT) 5-4

TRI-AAT5-5 Gene

transfer RNA-Ile (AAT) 5-5

PEG3-AS1 Gene

PEG3 antisense RNA 1

This gene is located in the paternally expressed gene 3 (PEG3) imprinted region on chromosome 19. A paternally imprinted antisense transcript of PEG3 is expressed from this gene and is localized in the 3' UTR of PEG3. A homologous transcript have been found in other mammalian species. This antisense transcript may be involved with the regulation of PEG3. [provided by RefSeq, Sep 2009]

LINC01452 Gene

long intergenic non-protein coding RNA 1452

RBMY2OP Gene

RNA binding motif protein, Y-linked, family 2, member O pseudogene

ACVR2B-AS1 Gene

ACVR2B antisense RNA 1

TRNAA-CGC Gene

transfer RNA alanine (anticodon CGC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

PTGES2-AS1 Gene

PTGES2 antisense RNA 1 (head to head)

RNA5SP54 Gene

RNA, 5S ribosomal pseudogene 54

RNA5SP55 Gene

RNA, 5S ribosomal pseudogene 55

RNA5SP56 Gene

RNA, 5S ribosomal pseudogene 56

RNA5SP51 Gene

RNA, 5S ribosomal pseudogene 51

RNA5SP52 Gene

RNA, 5S ribosomal pseudogene 52

RNA5SP53 Gene

RNA, 5S ribosomal pseudogene 53

PIK3IP1-AS1 Gene

PIK3IP1 antisense RNA 1 (head to head)

UFL1-AS1 Gene

UFL1 antisense RNA 1

VPS9D1-AS1 Gene

VPS9D1 antisense RNA 1

RNU7-32P Gene

RNA, U7 small nuclear 32 pseudogene

ADARB2 Gene

adenosine deaminase, RNA-specific, B2 (non-functional)

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

ADARB1 Gene

adenosine deaminase, RNA-specific, B1

This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]

RNA5SP378 Gene

RNA, 5S ribosomal pseudogene 378

RNA5SP372 Gene

RNA, 5S ribosomal pseudogene 372

RNA5SP373 Gene

RNA, 5S ribosomal pseudogene 373

RNA5SP371 Gene

RNA, 5S ribosomal pseudogene 371

RNA5SP374 Gene

RNA, 5S ribosomal pseudogene 374

RNA5SP375 Gene

RNA, 5S ribosomal pseudogene 375

TRNAR-CCU Gene

transfer RNA arginine (anticodon CCU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

SNORD43 Gene

small nucleolar RNA, C/D box 43

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

TRNAR-CCG Gene

transfer RNA arginine (anticodon CCG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

SNORD46 Gene

small nucleolar RNA, C/D box 46

TBX2-AS1 Gene

TBX2 antisense RNA 1

AUH Gene

AU RNA binding protein/enoyl-CoA hydratase

The methylglutaconyl-CoA hydratase, mitochondrial protein binds to the AU-rich element (ARE), a common element found in the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic hydratase enzymatic activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme activity. A possible subcellular localization in the mitochondria has been demonstrated for the mouse homolog of this protein which shares 92% identity with the human protein. It has been suggested that AUH may have a novel role as a mitochondrial located AU-binding protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

ZNF793-AS1 Gene

ZNF793 antisense RNA 1 (head to head)

RNA5-8SP5 Gene

RNA, 5.8S ribosomal pseudogene 5

RNA5-8SP4 Gene

RNA, 5.8S ribosomal pseudogene 4

RNA5-8SP6 Gene

RNA, 5.8S ribosomal pseudogene 6

RNA5-8SP3 Gene

RNA, 5.8S ribosomal pseudogene 3

LINC01166 Gene

long intergenic non-protein coding RNA 1166

SEMA6A-AS1 Gene

SEMA6A antisense RNA 1

RNA5SP176 Gene

RNA, 5S ribosomal pseudogene 176

SNORD116-6 Gene

small nucleolar RNA, C/D box 116-6