Mouse Anti-OCRL (AA 146-240) Recombinant Antibody (4A6) (CBMAB-O0252-CQ)

oculocerebrorenal syndrome of Lowe

This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants.

OCRL, Inositol Polyphosphate-5-Phosphatase; Lowe Oculocerebrorenal Syndrome Protein; Oculocerebrorenal Syndrome Of Lowe; INPP5F; OCRL1; Phosphatidylinositol Polyphosphate 5-Phosphatase

Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818).
Able also to hydrolyze the 5-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:7761412, PubMed:25869668).
Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085).
Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976).
Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788).

Cilium assemblyManual Assertion Based On ExperimentIMP:UniProtKB
In utero embryonic developmentIEA:Ensembl
Inositol phosphate dephosphorylationManual Assertion Based On ExperimentIBA:GO_Central
Inositol phosphate metabolic processTAS:Reactome
Lipid metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Membrane organizationTAS:Reactome
Phosphatidylinositol biosynthetic processTAS:Reactome
Phosphatidylinositol dephosphorylationManual Assertion Based On ExperimentIBA:GO_Central
Regulation of GTPase activityManual Assertion Based On ExperimentIDA:FlyBase
Signal transductionIEA:InterPro

Cytoplasmic vesicle, phagosome membrane
Early endosome membrane
Membrane, clathrin-coated pit
Cell projection, cilium, photoreceptor outer segment
Cell projection, cilium
Cytoplasmic vesicle
Endosome
Golgi apparatus, trans-Golgi network
Lysosome
Also found on macropinosomes (PubMed:25869668).
Colocalized with APPL1 on phagosomes (PubMed:22072788).

Lowe oculocerebrorenal syndrome (OCRL):
X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.
Dent disease 2 (DD2):
A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.