OCRL

Gene Symbol OCRL
Entrez Gene 4952
Alt Symbol INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
Species Human
Gene Type protein-coding
Description oculocerebrorenal syndrome of Lowe
Other Description Lowe oculocerebrorenal syndrome protein|inositol polyphosphate 5-phosphatase OCRL-1|phosphatidylinositol polyphosphate 5-phosphatase
Swissprots Q5JQF2 Q4VY09 Q15684 A6NKI1 Q15774 Q9UJG5 Q5JQF1 Q01968 B7ZLX2 Q4VY10 O60800 A8KAP2 Q9UMA5
Accessions EAX11830 EAX11831 EAX11832 Q01968 AK226116 AK293107 BAF85796 BC018003 AAH18003 BC025253 AAH25253 BC094726 AAH94726 BC130612 AAI30613 BC144106 AAI44107 S62084 AAD13933 S62085 AAB26926 U57627 AAB03839 XM_005262422 XP_005262479 XM_011531342 XP_011529644 XM_011531343 XP_011529645 XM_011531344 XP_011529646 XM_011531345 XP_011529647 XM_011531346 XP_011529648 NM_000276 NP_000267 NM_001587 NP_001578
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. {ECO:0000269|PubMed:22228094, ECO:0000269|PubMed:22543976}.
Subcellular Location Cytoplasmic vesicle, phagosome membrane {ECO:0000250}. Early endosome membrane. Membrane, clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cytoplasmic vesicle {ECO:0000250}. Endosome {ECO:0000250}. Golgi apparatus, trans-Golgi network {ECO:0000250}. Note=Also found on macropinosomes.
Tissue Specificity Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. {ECO:0000269|PubMed:22543976}.
Top Pathways Inositol phosphate metabolism, Phosphatidylinositol signaling system

oculocerebrorenal syndrome of Lowe, ELISA Kit - MBS9339578 from MyBioSource

Category ELISA Kit
Prices $435.00, $600.00, $2,650.00, $5,205.00
Sizes 48 -strip-wells, 96 -strip-wells, 5x96-strip-wells, 10x96-strip-wells

Human INPP5F ELISA Kit - E019883 from Biobool

Category ELISA Kit

Human OCRL ELISA Kit - E027243 from Biobool

Category ELISA Kit

Inositol Polyphosphate 5-Phosphatase OCRL-1 (OCRL), ELISA Kit - MBS9396935 from MyBioSource

Category ELISA Kit
Prices $435.00, $600.00, $2,650.00, $5,205.00
Sizes 48 -strip-wells, 96 -strip-wells, 5x96-strip-wells, 10x96-strip-wells
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