PPP1R14A
Description
The PPP1R14A (protein phosphatase 1 regulatory inhibitor subunit 14A) is a protein-coding gene located on chromosome 19.
PPP1R14A, also known as CPI-17, is a protein that regulates smooth muscle contraction. It inhibits myosin phosphatase, an enzyme that dephosphorylates myosin, leading to muscle relaxation. Phosphorylation of CPI-17 at Thr-38 activates its inhibitory function. This phosphorylation is mediated by several kinases, including PKC, ROCK, PKN, ZIPK, ILK, and PAK. In the absence of increased intracellular calcium levels, CPI-17's inhibition of myosin phosphatase causes myosin phosphorylation and smooth muscle contraction, a phenomenon known as calcium sensitization. CPI-17 has three homologues: PHI (PPP1R14B), KEPI (PPP1R14C), and GBPI (PPP1R14D). CPI-17 is upregulated in some cancer cells and contributes to hyperphosphorylation of the tumor suppressor merlin/NF2. In prostate cancer, CPI-17 expression is associated with the GWAS risk SNP rs7247241 T allele and increased cell proliferation.
PPP1R14A is also known as CPI-17, CPI17, PPP1INL.
Associated Diseases
- cancer
- prostate cancer
- diverticulitis
- X-linked severe congenital neutropenia
- neutropenia-monocytopenia-deafness syndrome
- neutropenia, severe congenital, 1, autosomal dominant
- neutropenia, severe congenital, 2, autosomal dominant
- linear and whorled nevoid hypermelanosis
- cardiomyopathy, familial restrictive, 3
- transient myeloproliferative syndrome
- ichthyosis prematurity syndrome
