Immunogen sequence: MEPPLPVGAQ PLATVEGMEM KGPLREPCAL TLAQRNGQYE LIIQLHEKEQ HVQDIIPINS HFRCVQEAEE TLLIDIASNS GCKIRVQGDW IRERRFEIPD EEHCLKFLSA VLAAQKAQSQ LLVPEQKDSS SWYQKLDTKD KPSVFSGLLG FEDNFSSMNL DKKINSQNQP TGIHREPPPP PFSVNKMLPR EKEASNKEQP KVTNTMRKLF VPNTQSGQRE; Positive Samples: U-251MG, A-549, 22Rv1, Mouse brain, Mouse lung, Rat brain; Cellular Location: Cell projection, Cytoplasmic vesicle, Early endosome membrane, Endosome, Golgi apparatus, Membrane, cilium, clathrin-coated pit, phagosome membrane, photoreceptor outer segment, trans-Golgi network
The inositol polyphosphate 5-phosphatases selectively remove the phosphate from the 5-position of various phosphatidylinositols, which generate second messengers in response to extracellular signals. OCRL1 is a type II 5-phosphatase that is mutated in the oculocerebrorenal syndrome of Lowe (OCRL). OCRL is a rare X-linked disorder that is characterized in part by congenital cataracts, mental retardation, muscular hypotonia and renal tubular dysfunction. OCRL1 has a high affinity for phosphatidylinositol 4,5-bisphosphate as well as inositol 1,4,5-trisphosphate and inositol 1,3,4,5-tetrakisphosphate as substrates. OCRL1 is localized to the Golgi complex and is thought to be part of the trans-Golgi network (TGN), which suggests that OCRL1 plays a role in protein sorting and trafficking within the cell.
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Protein Aliases: Inositol polyphosphate 5-phosphatase OCRL-1; Lowe oculocerebrorenal syndrome protein; oculocerebrorenal syndrome of Lowe; phosphatidylinositol polyphosphate 5-phosphatase
Gene Aliases: 9530014D17Rik; BB143339; INPP5F; LOCR; NPHL2; OCRL; OCRL-1; OCRL1