AutismKB 2.0

Annotation Details for OCRL


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Basic Information Top
Gene Symbol:OCRL ( INPP5F,LOCR,NPHL2,OCRL1 )
Gene Full Name: oculocerebrorenal syndrome of Lowe
Band: Xq26.1
Quick LinksEntrez ID:4952; OMIM: 300535; Uniprot ID:OCRL_HUMAN; ENSEMBL ID: ENSG00000122126; HGNC ID: 8108
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001750IDA-photoreceptor outer segment22543976
GO:0005634IDA-nucleus12915445
GO:0005737IDA-cytoplasm12915445
GO:0005769IDA-early endosome21233288
GO:0005795TAS-Golgi stack1840503
GO:0005798TAS-Golgi-associated vesicle1840503
GO:0005802IDA-trans-Golgi network12915445
GO:0005829TAS-cytosol-
GO:0005886IDA-plasma membrane12915445
GO:0005905IEA-clathrin-coated pit-
GO:0030136IDA-clathrin-coated vesicle21233288
GO:0030670IEA-phagocytic vesicle membrane-
GO:0031901IEA-early endosome membrane-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0004439TAS-phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity-
GO:0005096IDA-GTPase activator activity12915445
GO:0005096TAS-GTPase activator activity-
GO:0005515IPI-protein binding12915445
GO:0034596TAS-phosphatidylinositol phosphate 4-phosphatase activity-
GO:0043813TAS-phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity-
GO:0048365IPI-Rac GTPase binding12915445
GO:0052658TAS-inositol-1,4,5-trisphosphate 5-phosphatase activity-
GO:0052659TAS-inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity-
GO:0052745IDA-inositol phosphate phosphatase activity25869668
GO:0052745NAS-inositol phosphate phosphatase activity1321346
GO ID Evidence Qualifier GO_term References
GO:0001701IEA-in utero embryonic development-
GO:0006629NAS-lipid metabolic process1321346
GO:0006661TAS-phosphatidylinositol biosynthetic process-
GO:0007165IEA-signal transduction-
GO:0036092IEA-phosphatidylinositol-3-phosphate biosynthetic process-
GO:0043087IDA-regulation of GTPase activity12915445
GO:0043547IEA-positive regulation of GTPase activity-
GO:0043647TAS-inositol phosphate metabolic process-
GO:0046856IEA-phosphatidylinositol dephosphorylation-
GO:0051056TAS-regulation of small GTPase mediated signal transduction-
GO:0060271IMP-cilium assembly22228094
GO:0061024TAS-membrane organization-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
OCRLGRB21091429038219 Reconstituted Complex
OCRLGRB21110069038219 Reconstituted Complex
GOLGA5OCRL1152759915833 Two-hybrid
GOLGA5OCRL1110069915833 Two-hybrid
FAM109AOCRL11100620133602 Affinity Capture-Western; Co-localization; Co-purification
FAM109AOCRL12687320133602 Affinity Capture-Western; Co-localization; Co-purification
FAM109BOCRL12728720133602 Affinity Capture-Western; Co-localization; Co-purification
FAM109BOCRL11100620133602 Affinity Capture-Western; Co-localization; Co-purification
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109589
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-061110-61'