• 靶点：
• OCRL

• 简介：
• >>Inositol phosphate metabolism;>>Metabolic pathways;>>Phosphatidylinositol signaling system

• 基因名称：
• OCRL

• 蛋白名称：
• Inositol polyphosphate 5-phosphatase OCRL-1

• Human Gene Id：
• 4952

• Human Swiss Prot No：
• Q01968

• 免疫原：
• The antiserum was produced against synthesized peptide derived from human OCRL. AA range:150-199

• 特异性：
• OCRL Polyclonal Antibody detects endogenous levels of OCRL protein.

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1:500 - 1:2000. ELISA: 1:10000. Not yet tested in other applications.

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• OCRL;INPP5F;OCRL1;Inositol polyphosphate 5-phosphatase OCRL-1;Lowe oculocerebrorenal syndrome protein

• 实测条带：
• 104kD

• 背景：
• 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],

• 功能：
• 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

• 细胞定位：
• 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). .

• 组织表达：
• Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.

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