This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Inositol polyphosphate 5-phosphatase OCRL.
May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976).
Human | |
---|---|
Gene Name: | OCRL |
Uniprot: | Q01968 |
Entrez: | 4952 |
Belongs to: |
---|
inositol 1,4,5-trisphosphate 5-phosphatase type II family |
EC 3.1.3.36; INPP5F; LOCR; Lowe oculocerebrorenal syndrome protein; NPHL2; OCRL1inositol polyphosphate 5-phosphatase OCRL-1; oculocerebrorenal syndrome of Lowe; phosphatidylinositol polyphosphate 5-phosphatase
Mass (kDA):
104.205 kDA
Human | |
---|---|
Location: | Xq26.1 |
Sequence: | X; NC_000023.11 (129540259..129592556) |
Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.
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).
PMID: 1321346 by Attree O., et al. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.
PMID: 9048911 by Nussbaum R.L., et al. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.