INPP5E

GENE INFORMATION

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Gene name

INPP5E (HGNC Symbol)

Synonyms

CORS1, JBTS1, PPI5PIV

Description

Inositol polyphosphate-5-phosphatase, 72 kDa (HGNC Symbol)

Entrez gene 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.[provided by RefSeq, Feb 2011]

Chromosome

9

Cytoband

q34.3

Chromosome location (bp)

136428619 - 136439822

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000148384 (version 78.38)

Entrez gene

56623

UniProt

Q9NRR6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NRR6

Antibodypedia

INPP5E antibodies
 

PROTEIN VIEW

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INPP5E-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

INPP5E-001 ENSP00000360777
ENST00000371712
Q9NRR6
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