Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    ITPKC inositol-trisphosphate 3-kinase C [ Homo sapiens (human) ]

    Gene ID: 80271, updated on 22-Apr-2017
    Official Symbol
    ITPKCprovided by HGNC
    Official Full Name
    inositol-trisphosphate 3-kinase Cprovided by HGNC
    Primary source
    HGNC:HGNC:14897
    See related
    Ensembl:ENSG00000086544 MIM:606476; Vega:OTTHUMG00000182688
    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
    IP3KC; IP3-3KC
    Summary
    This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
    Orthologs
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (40717103..40740860)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41222885..41246765)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NUMB like, endocytic adaptor protein Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene chromosome 19 open reading frame 54 Neighboring gene small nuclear ribonucleoprotein polypeptide A Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene melanoma inhibitory activity

    • 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
    Acute febrile mucocutaneous lymph node syndrome
    MedGen: C0026691 OMIM: 611775 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    inositol-1,4,5-trisphosphate 3-kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    inositol-trisphosphate 3-kinase C
    Names
    IP3 3-kinase C
    IP3K C
    InsP 3 kinase C
    inositol 1,4,5-trisphosphate 3-kinase C
    insP 3-kinase C
    NP_079470.1

    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_012970.1 RefSeqGene

      Range
      5001..28758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025194.2NP_079470.1  inositol-trisphosphate 3-kinase C

      See identical proteins and their annotated locations for NP_079470.1

      Status: REVIEWED

      Source sequence(s)
      BC060788
      Consensus CDS
      CCDS12563.1
      UniProtKB/Swiss-Prot
      Q96DU7
      UniProtKB/TrEMBL
      A0A024R0N8
      Related
      ENSP00000263370.1, OTTHUMP00000269868, ENST00000263370.2, OTTHUMT00000463104
      Conserved Domains (1) summary
      pfam03770
      Location:467678
      IPK; Inositol polyphosphate kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      40717103..40740860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027324.1XP_016882813.1  inositol-trisphosphate 3-kinase C isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      41222687..41246445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center