Sequence of this protein is as follows: MEPPLPVGAQ PLATVEGMEM KGPLREPCAL TLAQRNGQYE LIIQLHEKEQ HVQDIIPINS HFRCVQEAEE TLLIDIASNS GCKIRVQGDW IRERRFEIPD EEHCLKFLSA VLAAQKAQSQ LLVPEQKDSS SWYQKLDTKD KPSVFSGLLG FEDNFSSMNL DKKINSQNQP TGIHREPPPP PFSVNKMLPR EKEASNKEQP KVTNTMRKLF VPNTQSGQRE GLIKHILAKR EKEYVNIQTF RFFVGTWNVN GQSPDSGLEP WLNCDPNPPD IYCIGFQELD LSTEAFFYFE SVKEQEWSMA VERGLHSKAK YKKVQLVRLV GMMLLIFARK DQCRYIRDIA TETVGTGIMG KMGNKGGVAV RFVFHNTTFC IVNSHLAAHV EDFERRNQDY KDICARMSFV VPNQTLPQLN IMKHEVVIWL GDLNYRLGMP DANEVKSLIN KKDLQRLLKF DQLNIQRTQK KAFVDFNEGE IKFIPTYKYD SKTDRWDSSG KCRVPAWCDR ILWRGTNVNQ LNYRSHMELK TSDHKPVSAL FHIGVKVVDE RRYRKVFEDS VRIMDRMEND FLPSLELSRR EFVFENVKFR QLQKEKFQIS NNGQVPCHFS FIPKLNDSQY CKPWLRAEPF EGYLEPNETV DISLDVYVSK DSVTILNSGE DKIEDILVLH LDRGKDYFLT ISGNYLPSCF GTSLEALCRM KRPIREVPVT KLIDLEKSLL QMVPLDEGAS ERPLQVPKEI WLLVDHLFKY ACHQEDLFQT PGMQEELQQI IDCLDTSIPE TIPGSNHSVA EALLIFLEAL PEPVICYELY QRCLDSAYDP RICRQVISQL PRCHRNVFRY LMAFLRELLK FSEYNSVNAN MIATLFTSLL LRPPPNLMAR QTPSDRQRAI QFLLGFLLGS EED
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; Inositol polyphosphate 5-phosphatase OCRL-1; Lowe oculocerebrorenal syndrome protein; OCRL-1; oculocerebrorenal syndrome of Lowe; Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase
Gene Aliases: INPP5F; LOCR; NPHL2; OCRL; OCRL-1; OCRL1
UniProt ID: (Human) Q01968
Entrez Gene ID: (Human) 4952