LMPD Database

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LMP000526

UniProt Annotations

Entry Information
Gene Nameoculocerebrorenal syndrome of Lowe
Protein EntryOCRL_MOUSE
UniProt IDQ6NVF0
SpeciesMouse
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NVF0-1; Sequence=Displayed; Name=2; IsoId=Q6NVF0-2; Sequence=VSP_045749, VSP_045750; Note=No experimental confirmation available.;
Catalytic Activity1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
DomainThe ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature (By similarity). {ECO:0000250}.
FunctionConverts 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. 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 (By similarity). {ECO:0000250}.
SimilarityBelongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family. {ECO:0000305}.
SimilarityContains 1 PH domain. {ECO:0000305}.
SimilarityContains 1 Rho-GAP domain. {ECO:0000255|PROSITE- ProRule:PRU00172}.
Subcellular LocationCytoplasmic vesicle, phagosome membrane {ECO:0000250}. Early endosome membrane {ECO:0000250}. Membrane, clathrin-coated pit {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Endosome {ECO:0000250}. Golgi apparatus, trans- Golgi network {ECO:0000250}. Note=Also found on macropinosomes. {ECO:0000250}.
SubunitInteracts with APPL1, FAM109A/SES1 and FAM109B/SES2; APPL1-binding and FAM109A-binding are mutually exclusive. Interacts with clathrin heavy chain. Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A, RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating the phosphatase activity. Interaction with RAB8A modulates OCRL recruitment to cilia. Interacts with RAB31 (By similarity). {ECO:0000250}.