Sequence in raw or FASTA format:
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa [Homo sapiens (human)]
| Gene Symbol | INPP5E |
| Entrez Gene ID | 56623 |
| Full Name | inositol polyphosphate-5-phosphatase, 72 kDa |
| Synonyms | CORS1, CPD4, JBTS1, MGC117201, MORMS, PPI5PIV |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
9 9q34.3 |
| 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. COMPLETENESS: complete on the 3' end. |
| Disorder | MIM: 613037 Mental retardation, truncal obesity, retinal dystrophy, and |
| mRNA | NM_019892, 326806964 |
| Protein | NP_063945, 38327539 |
| Product | 72 kDa inositol polyphosphate 5-phosphatase |
| RefSeq Status | REVIEWED |
| hsa04070 | Phosphatidylinositol signaling system |
| hsa00562 | Inositol phosphate metabolism |
| hsa01100 | Metabolic pathways |
BIOCYC
| META_PWY-6368 | 3-phosphoinositide degradation |
| Homo sapiens (human) | INPP5E | NP_063945.2 |
| Canis lupus familiaris (dog) | INPP5E | XP_849208.1 |
| Bos taurus (cattle) | INPP5E | XP_582780.2 |
| Mus musculus (house mouse) | Inpp5e | NP_149125.1 |
| Gallus gallus (chicken) | INPP5E | XP_415418.2 |
| Danio rerio (zebrafish) | zgc:165612 | XP_002662227.1 |
| ID | Name | Evidence |
| GO:0006629 | lipid metabolic process | IEA |
| GO:0008150 | biological_process | ND |
| GO:0046488 | phosphatidylinositol metabolic process | IEA |
Component
| ID | Name | Evidence |
| GO:0005737 | cytoplasm | IEA |
| GO:0005794 | Golgi apparatus | IEA |
| GO:0005856 | cytoskeleton | IEA |
| GO:0005929 | cilium | IEA |
| GO:0016020 | membrane | IEA |
| GO:0032580 | Golgi cisterna membrane | IEA |
| GO:0035085 | cilium axoneme | IDA |
Function
| ID | Name | Evidence |
| GO:0004437 | inositol or phosphatidylinositol phosphatase activity | IEA |
| GO:0004439 | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | IEA |
| GO:0004445 | inositol-polyphosphate 5-phosphatase activity | TAS |
| GO:0016787 | hydrolase activity | IEA |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |