Immunogen sequence: KYGGPYHIGG SPFKAKVTGP RLVSNHSLHE TSSVFVDSLT KATCAPQHGA PGPGPADASK VVAKGLGLSK AYVGQKSSFT VDCSKAGNNM LLVGVHGPRT PCEEILVKHV GSRLYSVSYL LKDKGEYTLV VKWGDEHIPG SPYRVVVP; Positive Samples: HeLa, U-251MG, Mouse lung, Mouse spleen; Cellular Location: Cytoplasm, cell cortex, cytoskeleton
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: ABP-280; actin binding protein 280; Actin-binding protein 280; alpha filamin; Alpha-filamin; dilated pupils 2; Endothelial actin-binding protein; Endothelial actin-binding protein 280); filamin A, alpha; filamin, alpha; Filamin-1; Filamin-A; FLN-A; Non-muscle filamin
Gene Aliases: ABP-280; ABPX; CSBS; CVD1; Dilp2; F730004A14Rik; filamin-1; FLN; FLN-A; FLN1; FLNA; FMD; GENA 379; MNS; NHBP; OPD; OPD1; OPD2; RGD1560614; XLVD; XMVD