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 |
Human INPP5F full length protein - ab159021 from Abcam
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Human INPP5F protein fragment - ab159022 from Abcam
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INPP5F Antibody Blocking Peptide - LS-E7567 from LifeSpan Bioscience
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Recombinant Human OCRL Protein - H00004952-Q01 from Novus Biologicals
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Recombinant Human OCRL Protein - H00004952-P01 from Novus Biologicals
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OCRL Blocking Peptide - abx063031 from Abbexa
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OCRL - H00004952-P01-10 from Acris Antibodies
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OCRL - H00004952-P01-25 from Acris Antibodies
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OCRL - H00004952-Q01-10 from Acris Antibodies
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OCRL - H00004952-Q01-25 from Acris Antibodies
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OCRL fusion protein - Ag12282 from Proteintech Group
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OCRL fusion protein - Ag11900 from Proteintech Group
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OCRL1 Peptide - 350539 from ABBIOTEC
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Recombinant Human OCRL, His-tagged - OCRL-1442H from Creative Biomart
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OCRL Blocking Peptide - CBP1837 from Cohesion Biosciences
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OCRL (Q199) Peptide - BS2951P from Bioworld Technology
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Recombinant Human Inositol polyphosphate 5-phosphatase OCRL-1(OCRL) ,partial - CSB-YP016267HU CSB-EP016267HU CSB-BP016267HU CSB-MP016267HU from Cusabio
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OCRL (transcript variant b) - TP310491 from Acris Antibodies
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OCRL (transcript variant a) - TP320672 from Acris Antibodies
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INPP5F Protein - NBP1-81693PEP from Novus Biologicals
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OCRL Recombinant Protein Antigen - NBP1-80973PEP from Novus Biologicals
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INPP5F Peptide, Human - M34GP07666H from Creative Peptides
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OCRL Peptide, Human - M34GP10804H from Creative Peptides
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Inositol polyphosphate 5-phosphatase OCRL-1 (OCRL), partial, Recombinant Protein - MBS718878 from MyBioSource
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INPP5F fusion protein - Ag25687 from Proteintech Group
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