OCRL

Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.^[5]

OCRL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4CMN, 2KIE, 2QV2, 3QBT, 3QIS
Identifiers
Aliases	OCRL, LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase, OCRL inositol polyphosphate-5-phosphatase, INPP5F, Dent-2, DENT2
External IDs	OMIM: 300535; MGI: 109589; HomoloGene: 233; GeneCards: OCRL; OMA:OCRL - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq26.1 Start 129,539,849 bp[1] End 129,592,561 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A5 Start 47,912,387 bp[2] End 47,965,868 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 10 gastric mucosa frontal pole islet of Langerhans left ovary right adrenal cortex anterior pituitary left adrenal gland left adrenal cortex right testis Top expressed in otolith organ utricle tail of embryo primary visual cortex superior frontal gyrus muscle of thigh dentate gyrus of hippocampal formation granule cell ventromedial nucleus genital tubercle adrenal gland More reference expression data BioGPS n/a
Gene ontology Molecular function phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity protein binding hydrolase activity GTPase activator activity inositol-1,4,5-trisphosphate 5-phosphatase activity inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity phosphatidylinositol phosphate 4-phosphatase activity phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity inositol phosphate phosphatase activity Cellular component cytoplasm cytosol endosome phagocytic vesicle membrane Golgi apparatus cell projection early endosome membrane membrane plasma membrane cilium Golgi-associated vesicle trans-Golgi network early endosome Golgi stack clathrin-coated pit cytoplasmic vesicle nucleus clathrin-coated vesicle photoreceptor outer segment Biological process lipid metabolism regulation of GTPase activity in utero embryonic development inositol phosphate metabolic process cell projection organization phosphatidylinositol dephosphorylation phosphatidylinositol biosynthetic process regulation of small GTPase mediated signal transduction signal transduction positive regulation of GTPase activity phosphatidylinositol-3-phosphate biosynthetic process cilium assembly membrane organization inositol phosphate dephosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4952 320634 Ensembl ENSG00000122126 ENSMUSG00000001173 UniProt Q01968 Q6NVF0 RefSeq (mRNA) NM_000276 NM_001587 NM_001318784 NM_177215 RefSeq (protein) NP_000267 NP_001305713 NP_001578 NP_796189 Location (UCSC) Chr X: 129.54 – 129.59 Mb Chr X: 47.91 – 47.97 Mb PubMed search [3] [4]
Wikidata
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This gene encodes an inositol polyphosphate 5-phosphatase. The responsible gene locus is at Xq26.1. This phosphatase enzyme is in part responsible for regulating membrane trafficking actin polymerization, and is located in several subcellular parts of the trans-Golgi network.

Deficiencies in OCRL-1 may cause with oculocerebrorenal syndrome^[6] and also have been linked to Dent's disease.^[7][8]