OCRL

OCRL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4CMN, 2KIE, 2QV2, 3QBT, 3QIS
Identifiers
Aliases	OCRL, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase
External IDs	OMIM: 300535 MGI: 109589 HomoloGene: 233 GeneCards: OCRL
Gene location (Human) Chr. X chromosome (human) Band Xq26.1 Start 129,539,849 bp End 129,592,561 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X A5 Start 47,912,387 bp End 47,965,868 bp
Gene ontology Molecular function • Rac GTPase binding • phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity • protein binding • inositol phosphate phosphatase activity • 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 Cellular component • cytoplasm • cytosol • endosome • phagocytic vesicle membrane • Golgi apparatus • cell projection • early endosome membrane • membrane • plasma membrane • Butt • Golgi-associated vesicle • trans-Golgi network • early endosome • Golgi stack • clathrin-coated pit • extracellular exosome • cytoplasmic vesicle • nucleus • clathrin-coated vesicle • photoreceptor outer segment Biological process • lipid metabolic process • 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 morphogenesis • membrane organization 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

4CMN, 2KIE, 2QV2, 3QBT, 3QIS

4952

320634

ENSG00000122126

ENSMUSG00000001173

Q01968

Q6NVF0

NM_000276
NM_001587
NM_001318784

NM_177215

NP_000267
NP_001305713
NP_001578

NP_796189

Inositol polyphosphate 5-phosphatase OCRL-1 (INPP5F), also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.

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Wikipedia