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INPP5E inositol polyphosphate-5-phosphatase, 72 kDa [ Homo sapiens (human) ]

Gene ID: 56623, updated on 12-Apr-2014
Official Symbol
INPP5Eprovided by HGNC
Official Full Name
inositol polyphosphate-5-phosphatase, 72 kDaprovided by HGNC
Primary source
HGNC:21474
See related
Ensembl:ENSG00000148384; HPRD:17151; MIM:613037; Vega:OTTHUMG00000020927
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPD4; CORS1; JBTS1; MORMS; PPI5PIV
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]
Location :
9q34.3
Sequence :
Chromosome: 9; NC_000009.12 (136428615..136439853, complement)
See INPP5E in Epigenomics, MapViewer

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene small nuclear RNA activating complex, polypeptide 4, 190kDa Neighboring gene serologically defined colon cancer antigen 3 Neighboring gene peptidase (mitochondrial processing) alpha Neighboring gene SEC16 homolog A (S. cerevisiae) Neighboring gene chromosome 9 open reading frame 163 Neighboring gene notch 1 Neighboring gene microRNA 4673

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Familial aplasia of the vermis Compare labs
Joubert syndrome 1 Compare labs
MORM syndrome
MedGen: C1857802 OMIM: 610156 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Protein interactions

Protein Gene Interaction Pubs
Gag, Pr55 gag Overexpression of phosphoinositide 5-phosphatase IV, an enzyme that depletes cellular PI(4,5)P2, severely reduces HIV-1 Gag virus production by retargeting Gag to late endosomes instead of the plasma membrane PubMed
gag The chimeric HIV-1 Gag, in which MA is replaced with HTLV-1 MA, is less sensitive to 5ptaseIV overexpression compared to the wild type Gag, suggesting MA plays an important role of interaction between Gag and PI(4,5)P2 PubMed
gag The 74LR mutation in Gag increases virus infectivity and compensates for the inefficient virus release in T cells expressing polyphosphoinositide 5-phosphatase IV PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
inositol-polyphosphate 5-phosphatase activity TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
inositol phosphate dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
72 kDa inositol polyphosphate 5-phosphatase
Names
72 kDa inositol polyphosphate 5-phosphatase
phosphatidylinositol 4,5-bisphosphate 5-phosphatase
phosphatidylinositol-4,5-bisphosphate 5-phosphatase
phosphatidylinositol (4,5) bisphosphate 5-phosphatase
phosphatidylinositol polyphosphate 5-phosphatase type IV
NP_063945.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016126.1 RefSeqGene

    Range
    5001..16190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019892.4NP_063945.2  72 kDa inositol polyphosphate 5-phosphatase

    See proteins identical to NP_063945.2

    Status: REVIEWED

    Source sequence(s)
    BC028032, BE044535
    Consensus CDS
    CCDS7000.1
    UniProtKB/Swiss-Prot
    Q9NRR6
    Related
    ENSP00000360777, OTTHUMP00000022575, ENST00000371712, OTTHUMT00000055058
    Conserved Domains (1) summary
    cd09095
    Location:295593
    Blast Score: 1574
    INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12

    Range
    136428615..136439853, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717187.1XP_006717250.1  

    Conserved Domains (1) summary
    cd09095
    Location:295559
    Blast Score: 1339
    INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins
  2. XM_005266094.1XP_005266151.1  

    See proteins identical to XP_005266151.1

    Conserved Domains (1) summary
    cd09095
    Location:295592
    Blast Score: 1551
    INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins

Alternate HuRef

Genomic

  1. AC_000141.1 Alternate HuRef

    Range
    108782431..108793343, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    139471271..139482699, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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