OCRL

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)
End	129,592,561 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	47,965,868 bp
RNA expression pattern
	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
	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
	4952
	320634
	ENSG00000122126
	ENSMUSG00000001173
	Q01968
	Q6NVF0
	NM_000276; NM_001587; NM_001318784
	NM_177215
	NP_000267; NP_001305713; NP_001578
	NP_796189
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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 are associated with oculocerebrorenal syndrome and also have been linked to Dent's disease.