Molecular weight (DA)
104kD
Immunogen
The antiserum was produced against synthesized peptide derived from human OCRL. AA range:150-199
Specificity
OCRL Polyclonal Antibody detects endogenous levels of OCRL protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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. [provided by RefSeq, Jan 2016],
Function
catalytic activity:1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.,caution:It is uncertain whether Met-1, Met-18 or Met-20 is the initiator.,disease:Defects in OCRL are the cause of Dent disease type 2 (DD2) [MIM:300555]. DD2 is 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 c
Protein name
Inositol polyphosphate 5-phosphatase OCRL-1
Other name
OCRL; INPP5F; OCRL1; Inositol polyphosphate 5-phosphatase OCRL-1; Lowe oculocerebrorenal syndrome protein
Fields
>>Inositol phosphate metabolism;>>Metabolic pathways;>>Phosphatidylinositol signaling system
Human protein sequence Database
Q01968
Mouse protein sequence database
Rat protein sequence database
Cellular localization
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). .
Tissue expression
Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.
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