Aliases for OCRL Gene
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 (Oculocerebrorenal Syndrome Of Lowe) is a Protein Coding gene. Diseases associated with OCRL include Lowe Syndrome and Dent Disease 2. Among its related pathways are Signaling by Rho GTPases and Inositol phosphate metabolism (REACTOME). 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 INPP5J.
UniProtKB/Swiss-Prot for OCRL Gene
Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate (PubMed:25869668, PubMed:7761412, PubMed:9430698). May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976).