DISEASES

Disease-gene associations mined from literature

Literature on OCRL

OCRL [ENSP00000360154]

Inositol polyphosphate 5-phosphatase OCRL; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818). Able also to hydrolyzes the 4-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate . Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes . Involved in primary cilia assembly . Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling . ECO:0000269|PubMed:21971085, ECO:0000269|PubMed:22072788, ECO:0000269|PubMed:22228094, ECO:0000269|PubMed:22543976, ECO:0000269|PubMed:25869668, ECO:0000269|PubMed:7761412,; Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.

Synonyms:  OCRL,  A0A2R8YCN4,  A0A2R8YF88,  A0A2R8YG38,  A0A2X0TVZ9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM