Harmonizome 3.0

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

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

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

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

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

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]

ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase

Predicted to enable 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase activity. Predicted to be involved in amide catabolic process; nucleobase-containing small molecule metabolic process; and urate catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

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

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

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

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

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

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

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

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]

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

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in protein dephosphorylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

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

Predicted to enable RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of G1/S transition of mitotic cell cycle and negative regulation of protein phosphorylation. Located in extracellular exosome. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

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

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]

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

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

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

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of BMP signaling pathway; positive regulation of protein export from nucleus; and protein dephosphorylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]