| Synonyms: | CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin, INPP5E |
| Background: | The protein encoded by this gene is an inositol 1, 4, 5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1, 4, 5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3, 4, 5-trisphosphate and phosphatidylinositol 3, 5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] |
| UniProt Protein Function: | Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates. |
| NCBI Summary: | The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] |
| UniProt Code: | Q9NRR6 |
| NCBI GenInfo Identifier: | 972781524 |
| NCBI Gene ID: | 56623 |
| NCBI Accession: | NP_001305431.1 |
| UniProt Secondary Accession: | Q9NRR6,Q15734, Q6PIV5, |
| UniProt Related Accession: | Q9NRR6 |
| Molecular Weight: | 70 |
| NCBI Full Name: | 72 kDa inositol polyphosphate 5-phosphatase isoform 2 |
| NCBI Synonym Full Names: | inositol polyphosphate-5-phosphatase E |
| NCBI Official Symbol: | INPP5E |
| NCBI Official Synonym Symbols: | CPD4; CORS1; JBTS1; MORMS; PPI5PIV; pharbin |
| NCBI Protein Information: | 72 kDa inositol polyphosphate 5-phosphatase |
| UniProt Protein Name: | 72 kDa inositol polyphosphate 5-phosphatase |
| UniProt Synonym Protein Names: | Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; Phosphatidylinositol polyphosphate 5-phosphatase type IV |
| UniProt Gene Name: | INPP5E |
