Homo sapiens Gene: INPP5E
Summary
InnateDB Gene IDBG-92393.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol INPP5E
Gene Name inositol polyphosphate-5-phosphatase, 72 kDa
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000148384
Encoded Proteins
inositol polyphosphate-5-phosphatase, 72 kDa
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:136428619-136439822
Strand Reverse strand
Band q34.3
Transcripts
ENST00000371712 ENSP00000360777
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004445 inositol-polyphosphate 5-phosphatase activity
Biological Process
GO:0006644 phospholipid metabolic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0008150 biological_process
GO:0044281 small molecule metabolic process
GO:0046488 phosphatidylinositol metabolic process
GO:0046855 inositol phosphate dephosphorylation
GO:0046856 phosphatidylinositol dephosphorylation
Cellular Component
GO:0000139 Golgi membrane
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005930 axoneme
GO:0032580 Golgi cisterna membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Synthesis of PIPs at the Golgi membrane pathway
PI Metabolism pathway
Phospholipid metabolism pathway
Metabolism pathway
KEGG
Inositol phosphate metabolism pathway
Phosphatidylinositol signaling system pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9NRR6
TrEMBL Q2YD81
UniProt Splice Variant
Entrez Gene 56623
UniGene Hs.120998
RefSeq NM_019892 XM_005266094
HUGO HGNC:21474
OMIM 613037
CCDS CCDS7000
HPRD 17151
IMGT
EMBL AF187891 AL592301 BC028032 BC110356 CH471090 U45974
GenPept AAB03215 AAF81404 AAH28032 AAI10357 CAI13947 EAW88234
ImmGen INPP5E (murine)
RNA Seq Atlas 56623