Aliases for CTDP1 Gene
External Ids for CTDP1 Gene
Previous GeneCards Identifiers for CTDP1 Gene
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]
GeneCards Summary for CTDP1 Gene
CTDP1 (CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Phosphatase, Subunit 1) is a Protein Coding gene. Diseases associated with CTDP1 include congenital cataracts, facial dysmorphism, and neuropathy. Among its related pathways are Disease and Gene Expression. GO annotations related to this gene include DNA-directed RNA polymerase activity and CTD phosphatase activity.
UniProtKB/Swiss-Prot for CTDP1 Gene
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.