Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    INPP5E inositol polyphosphate-5-phosphatase E [ Homo sapiens (human) ]

    Gene ID: 56623, updated on 19-May-2018
    Official Symbol
    INPP5Eprovided by HGNC
    Official Full Name
    inositol polyphosphate-5-phosphatase Eprovided by HGNC
    Primary source
    HGNC:HGNC:21474
    See related
    Ensembl:ENSG00000148384 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; pharbin
    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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in testis (RPKM 7.5), spleen (RPKM 6.8) and 25 other tissues See more
    Orthologs
    See INPP5E in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (136428615..136439861, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139323067..139334305, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene small nuclear RNA activating complex polypeptide 4 Neighboring gene endosome associated trafficking regulator 1 Neighboring gene peptidase, mitochondrial processing alpha subunit Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene chromosome 9 open reading frame 163 Neighboring gene notch 1 Neighboring gene microRNA 4673

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Joubert syndrome
    MedGen: C0431399 GeneReviews: Joubert Syndrome
    Compare labs
    Joubert syndrome 1
    MedGen: CN119531 OMIM: 213300 GeneReviews: Joubert Syndrome
    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
    HIV-1 replication, specifically assembly, is restricted by over expression of INPP5E, which depletes monocyte derived macrophages of cellular PI(4,5)P2 PubMed
    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
    Pr55(Gag) 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 Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC117201

    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 TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     
    Component Evidence Code Pubs
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium TAS
    Traceable Author Statement
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    72 kDa inositol polyphosphate 5-phosphatase
    Names
    phosphatidylinositol polyphosphate 5-phosphatase type IV
    phosphatidylinositol-4,5-bisphosphate 5-phosphatase
    NP_001305431.1
    NP_063945.2
    XP_016870415.1

    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
      4983..16190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318502.1NP_001305431.1  72 kDa inositol polyphosphate 5-phosphatase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in an internal exon, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AL592301, AL832846, BC028032, CA436481
      UniProtKB/Swiss-Prot
      Q9NRR6
      Conserved Domains (1) summary
      cd09095
      Location:295592
      INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins
    2. NM_019892.5NP_063945.2  72 kDa inositol polyphosphate 5-phosphatase isoform 1

      See identical proteins and their annotated locations for NP_063945.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL832846, BC028032, BE044535
      Consensus CDS
      CCDS7000.1
      UniProtKB/Swiss-Prot
      Q9NRR6
      Related
      ENSP00000360777.3, OTTHUMP00000022575, ENST00000371712.3, OTTHUMT00000055058
      Conserved Domains (2) summary
      cd09095
      Location:295593
      INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins
      cl26464
      Location:2179
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      136428615..136439861 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014926.1XP_016870415.1  72 kDa inositol polyphosphate 5-phosphatase isoform X1

    RNA

    1. XR_929828.2 RNA Sequence

    Support Center