LMP002091 UniProt Annotations
Gene Name oculocerebrorenal syndrome of Lowe Protein Entry OCRL_HUMAN UniProt ID Q01968 Species Human
Comment type Description Alternative Products Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q01968-1; Sequence=Displayed; Name=B; IsoId=Q01968-2; Sequence=VSP_002681; Catalytic Activity 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. Caution It is uncertain whether Met-1, Met-18 or Met-20 is the initiator. Disease Dent disease 2 (DD2) [MIM Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM Domain The 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. Function 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. 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. Interaction Q00610:CLTC; NbExp=4; IntAct=EBI-6148898, EBI-354967; P11442:Cltc (xeno); NbExp=5; IntAct=EBI-6148898, EBI-397997; P61106:RAB14; NbExp=3; IntAct=EBI-6148898, EBI-1056404; P62820:RAB1A; NbExp=7; IntAct=EBI-6148898, EBI-716845; Q9H0U4:RAB1B; NbExp=2; IntAct=EBI-6148898, EBI-1045214; P20339:RAB5A; NbExp=10; IntAct=EBI-6148898, EBI-399437; P20340:RAB6A; NbExp=11; IntAct=EBI-6148898, EBI-1052826; P61006:RAB8A; NbExp=11; IntAct=EBI-6148898, EBI-722293; P63000:RAC1; NbExp=3; IntAct=EBI-6148898, EBI-413628; Sequence Caution Sequence=AAA59964.2; Type=Erroneous initiation; Evidence= ; Similarity Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family. Similarity Contains 1 PH domain. Similarity Contains 1 Rho-GAP domain. {ECO Subcellular Location Cytoplasmic vesicle, phagosome membrane . Early endosome membrane. Membrane, clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cytoplasmic vesicle {ECO Subunit Interacts 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. {ECO Tissue Specificity Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. Web Resource Name=Lowe Syndrome mutation database; URL="http://research.nhgri.nih.gov/lowe/";
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