CTDP1 : CTD phosphatase subunit 1

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Description

The CTDP1 (CTD phosphatase subunit 1) is a protein-coding gene located on chromosome 18.

The CTDP1 gene provides instructions for creating a protein called carboxy-terminal domain phosphatase 1 (CTDP1). This protein regulates the activity of RNA polymerase II, an enzyme that initiates transcription, the process of using genetic information to produce proteins.

CTDP1 dephosphorylates specific serine residues ('Ser-2' and 'Ser-5') within the heptad repeats (YSPTSPS) located in the C-terminal domain of the largest RNA polymerase II subunit. This dephosphorylation event promotes the activity of RNA polymerase II. Additionally, CTDP1 plays a role in exiting mitosis by dephosphorylating key mitotic substrates (USP44, CDC20, and WEE1). These substrates are essential for the inactivation of the M-phase-promoting factor (MPF)/CDK1, facilitating the transition from mitosis to interphase.

CTDP1 is also known as CCFDN, FCP1.

Associated Diseases

• Congenital cataracts, facial dysmorphism, and neuropathy
• Congenital cataracts-facial dysmorphism-neuropathy syndrome