UniProt Protein Function: | Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate (PubMed:25869668, PubMed:7761412, PubMed:9430698). 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). |
NCBI Summary: | 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] |
UniProt Code: | Q01968 |
NCBI GenInfo Identifier: | 13325072 |
NCBI Gene ID: | 4952 |
NCBI Accession: | NP_000267.2 |
UniProt Related Accession: | Q01968 |
Molecular Weight: | |
NCBI Full Name: | inositol polyphosphate 5-phosphatase OCRL isoform a |
NCBI Synonym Full Names: | OCRL inositol polyphosphate-5-phosphatase |
NCBI Official Symbol: | OCRL |
NCBI Official Synonym Symbols: | LOCR; NPHL2; OCRL1; Dent-2; INPP5F; OCRL-1 |
NCBI Protein Information: | inositol polyphosphate 5-phosphatase OCRL |
UniProt Protein Name: | Inositol polyphosphate 5-phosphatase OCRL-1 |
UniProt Synonym Protein Names: | Lowe oculocerebrorenal syndrome protein |
Protein Family: | Inositol polyphosphate 5-phosphatase |
UniProt Gene Name: | OCRL |