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Gene : INPP5E Homo sapiens

Name  ? inositol polyphosphate-5-phosphatase E Cytological Location  9q34.3
Brief Description  inositol polyphosphate-5-phosphatase E
Description  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]
  • synonyms:
  • PPI5PIV,
  • CPD4,
  • PPI5PIV,
  • CORS1,
  • pharbin,
  • CORS1,
  • MORMS,
  • OTTHUMG00000020927,
  • JBTS1,
  • INPP5E,
  • uc004cho.4,
  • AF187891,
  • inositol polyphosphate-5-phosphatase, 72 kDa,
  • Joubert syndrome 1,
  • pharbin,
  • NM_019892,
  • JBTS1,
  • HGNC:21474
  • identifiers:
  • 56623,
  • ENSG00000148384,
  • INPP5E

Genome feature

Region: gene ? Length: 11243  
Location: 9:136428619-136439861 reverse strand Cyto location: 9q34.3


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Disease

2 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results