Aliases for OCRL Gene
- OCRL Inositol Polyphosphate-5-Phosphatase 2 3 5
- Phosphatidylinositol 3,4,5-Triphosphate 5-Phosphatase 3 4
- Inositol Polyphosphate 5-Phosphatase OCRL-1 3 4
- Inositol Polyphosphate 5-Phosphatase OCRL 3 4
- Lowe Oculocerebrorenal Syndrome Protein 3 4
- Oculocerebrorenal Syndrome Of Lowe 2 3
- OCRL-1 3 4
- OCRL1 3 4
External Ids for OCRL Gene
Previous GeneCards Identifiers for OCRL Gene
This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
GeneCards Summary for OCRL Gene
OCRL (OCRL Inositol Polyphosphate-5-Phosphatase) is a Protein Coding gene. Diseases associated with OCRL include Lowe Oculocerebrorenal Syndrome and Dent Disease 2. Among its related pathways are Clathrin derived vesicle budding and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. An important paralog of this gene is INPP5B.
UniProtKB/Swiss-Prot Summary for OCRL Gene
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 (PubMed:7761412, PubMed:25869668). Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085). Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976). Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788).