Homo sapiens Gene: INPP5E

Summary
InnateDB Gene IDBG-92393.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol INPP5E
Gene Name inositol polyphosphate-5-phosphatase, 72 kDa
Synonyms CORS1; CPD4; JBTS1; MORMS; PPI5PIV
Species Homo sapiens
Ensembl Gene ENSG00000148384
Encoded Proteins
IDBP-92395 inositol polyphosphate-5-phosphatase, 72 kDa
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: 139323071-139334274
Strand Reverse strand
Band q34.3
Transcripts
ENST00000371712  ENSP00000360777
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
 
Predicted by orthology
Total 2 [view]
Gene Ontology
Accession GO Term
Molecular Function
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:0010976 positive regulation of neuron projection development
GO:0044281 small molecule metabolic process
GO:0046488 phosphatidylinositol metabolic process
GO:0046854 phosphatidylinositol phosphorylation
GO:0046855 inositol phosphate dephosphorylation
GO:0046856 phosphatidylinositol dephosphorylation
Cellular Component
GO:0000139 Golgi membrane
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0032580 Golgi cisterna membrane
GO:0035085 cilium axoneme
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000026925 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000001354 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_120836 Synthesis of PIPs at the Golgi membrane
KEGG
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04070  Phosphatidylinositol signaling system
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9NRR6 
TrEMBL Q2YD81
UniProt Splice Variant
Entrez Gene 56623 
UniGene Hs.120998
RefSeq NM_019892 
HUGO 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