Gene Symbol | OCRL |
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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 |
OCRL1 Antibody - 8797 from Cell Signaling Technology
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OCRL (C-2) - sc-393577 from Santa Cruz Biotechnology
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OCRL (G-15) - sc-12088 from Santa Cruz Biotechnology
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OCRL (H-240) - sc-367989 from Santa Cruz Biotechnology
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OCRL (N-16) - sc-12087 from Santa Cruz Biotechnology
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OCRL (P-16) - sc-12089 from Santa Cruz Biotechnology
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OCRL (A-17) - sc-12090 from Santa Cruz Biotechnology
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Anti-INPP5F antibody - ab125917 from Abcam
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Anti-INPP5F antibody - ab57988 from Abcam
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Anti-INPP5F antibody - ab90620 from Abcam
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Anti-INPP5F antibody - ab135875 from Abcam
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Anti-INPP5F antibody [4A6] - ab124633 from Abcam
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Anti-INPP5F antibody [EP10256] - ab181039 from Abcam
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Anti-INPP5F antibody [S166A-26] (Biotin) - ab186240 from Abcam
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Anti-INPP5F antibody [S166A-26] (FITC) - ab186304 from Abcam
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Anti-INPP5F antibody [S166A-26] (HRP) - ab186316 from Abcam
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Anti-INPP5F antibody [S166A26] - ab186326 from Abcam
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Anti-OCRL Antibody (clone 4A6) IHC-plus⢠- LS-B6106 from LifeSpan Bioscience
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Anti-OCRL Antibody (aa940-954) - LS-C3148 from LifeSpan Bioscience
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Anti-OCRL Antibody (aa40-56) - LS-C3147 from LifeSpan Bioscience
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Anti-OCRL Antibody (N-Terminus) - LS-C153468 from LifeSpan Bioscience
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Anti-OCRL Antibody (aa1-901, clone S166A-26) - LS-C209552 from LifeSpan Bioscience
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Anti-OCRL Antibody (aa1-901, clone S166A-26, Atto 390) - LS-C229288 from LifeSpan Bioscience
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Anti-OCRL Antibody (aa1-901, clone S166A-26, Atto 488) - LS-C229289 from LifeSpan Bioscience
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Anti-OCRL Antibody (aa1-901, clone S166A-26, Atto 565) - LS-C229290 from LifeSpan Bioscience
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