Rabbit anti-Human OCRL Polyclonal Antibody

Uniprot Id

Q01968

Target Species

Human

Target Name

OCRL

Target Full Name

Inositol polyphosphate 5-phosphatase OCRL

Target Function

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. Able also to hydrolyze the 5-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate. Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes. Involved in primary cilia assembly. Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling.

Target Involvement

Lowe oculocerebrorenal syndrome (OCRL); Dent disease 2 (DD2)

Target Subcellular Location

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.

Target Protein Families

Inositol 1,4,5-trisphosphate 5-phosphatase type II family

Target Tissue Specificity

Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.

Target Synonyms

EC 3.1.3.36; Inositol polyphosphate 5 phosphatase OCRL 1; Inositol polyphosphate 5 phosphatase OCRL1; Inositol polyphosphate 5-phosphatase OCRL-1; INPP5F; LOCR ; Lowe oculocerebrorenal syndrome protein; NPHL2; OCRL 1; OCRL; OCRL_HUMAN; OCRL1; Oculocerebrorenal syndrome of Lowe; Phosphatidylinositol polyphosphate 5 phosphatase

Target 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.