InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-92395

inositol polyphosphate-5-phosphatase, 72 kDa

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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

ENSMUSG00000026925

View Gene Order

ENSBTAG00000001354

Not yet available

Pathways

NETPATH

REACTOME

REACT_120836

Synthesis of PIPs at the Golgi membrane pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_121175

PI Metabolism pathway

REACT_120870

Phospholipid metabolism pathway

REACT_111217

Metabolism pathway

KEGG

hsa00562

Inositol phosphate metabolism pathway

hsa04070

Phosphatidylinositol signaling system pathway

INOH

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

IMGT

EMBL

AF187891 AL592301 BC028032 BC110356 CH471090 U45974

GenPept

AAB03215 AAF81404 AAH28032 AAI10357 CAI13947 EAW88234

RNA Seq Atlas

56623