CTDP1

This gene encodes a protein which interacts with the carboxy-terminus of transcription initiation factor TFIIF, a transcription factor which regulates elongation as well as initiation by RNA polymerase II. The protein may also represent a component of an RNA polymerase II holoenzyme complex. Alternative splicing of this gene results in two transcript variants encoding 2 different isoforms. [provided by RefSeq]

Full Name

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

Function

Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivation.

Biological Process

Cell division Source: UniProtKB-KW
Dephosphorylation of RNA polymerase II C-terminal domain Source: GO_Central
Exit from mitosis Source: UniProtKB
Negative regulation of cell growth involved in cardiac muscle cell development Source: Ensembl
Positive regulation by host of viral transcription Source: CAFA
Positive regulation of viral transcription Source: Reactome
Protein dephosphorylation Source: UniProtKB
Transcription by RNA polymerase II Source: Reactome
Transcription elongation from RNA polymerase II promoter Source: Reactome

Cellular Location

Nucleus; Centrosome; Spindle pole; Midbody. Found at centrosomes in prometaphase, at spindle and spindle poles in metaphase and at spindle midzone and midbody in anaphase and telophase-G1 respectively.

Involvement in disease

Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN):
An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures).

PTM

Phosphorylated. In the presence of TFIIF, the phosphorylated form has an increased CTD phosphatase activity. The phosphorylation is required for the physical interaction with GTF2F1.