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    IP6K1 inositol hexakisphosphate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 9807, updated on 16-Apr-2018
    Official Symbol
    IP6K1provided by HGNC
    Official Full Name
    inositol hexakisphosphate kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:18360
    See related
    Ensembl:ENSG00000176095 MIM:606991; Vega:OTTHUMG00000158197
    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
    PiUS; IHPK1
    Summary
    This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
    Expression
    Ubiquitous expression in brain (RPKM 17.4), testis (RPKM 16.8) and 25 other tissues See more
    Orthologs
    Location:
    3p21.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (49724295..49786540, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49761728..49823973, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ring finger protein 123 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene GDP-mannose pyrophosphorylase B Neighboring gene cytochrome c oxidase subunit 6C pseudogene 14 Neighboring gene PHD finger protein 5E pseudogene Neighboring gene cadherin related family member 4 Neighboring gene inka box actin regulator 1

    • 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?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC9925

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    inositol 5-diphosphate pentakisphosphate 5-kinase activity TAS
    Traceable Author Statement
    more info
     
    inositol diphosphate tetrakisphosphate kinase activity TAS
    Traceable Author Statement
    more info
     
    inositol heptakisphosphate kinase activity TAS
    Traceable Author Statement
    more info
     
    inositol hexakisphosphate 1-kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    inositol hexakisphosphate 3-kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    inositol hexakisphosphate 5-kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    inositol hexakisphosphate kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inositol hexakisphosphate kinase activity TAS
    Traceable Author Statement
    more info
     
    inositol-1,3,4,5,6-pentakisphosphate kinase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    inositol phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    inositol hexakisphosphate kinase 1
    Names
    ATP:1D-myo-inositol-hexakisphosphate phosphotransferase
    Pi uptake stimulator
    inositol hexaphosphate kinase 1
    insP6 kinase 1
    NP_001006115.1
    NP_001229758.1
    NP_695005.1

    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.

    mRNA and Protein(s)

    1. NM_001006115.2NP_001006115.1  inositol hexakisphosphate kinase 1 isoform 2

      See identical proteins and their annotated locations for NP_001006115.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL561521, BE387671, BG720032, BI193048, CB152138, D87452
      Consensus CDS
      CCDS43092.1
      UniProtKB/Swiss-Prot
      Q92551
      Related
      ENSP00000378659.1, ENST00000395238.5
      Conserved Domains (1) summary
      pfam03770
      Location:42269
      IPK; Inositol polyphosphate kinase
    2. NM_001242829.1NP_001229758.1  inositol hexakisphosphate kinase 1 isoform 1

      See identical proteins and their annotated locations for NP_001229758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same protein.
      Source sequence(s)
      AC099668, D87452, DB099697
      Consensus CDS
      CCDS33760.1
      UniProtKB/Swiss-Prot
      Q92551
      UniProtKB/TrEMBL
      A0A024R2X2
      Related
      ENSP00000482032.1, ENST00000613416.4
      Conserved Domains (1) summary
      pfam03770
      Location:207434
      IPK; Inositol polyphosphate kinase
    3. NM_153273.3NP_695005.1  inositol hexakisphosphate kinase 1 isoform 1

      See identical proteins and their annotated locations for NP_695005.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Variants 1 and 3 encode the same protein.
      Source sequence(s)
      AL561521, BE387671, BG720032, CB152138, D87452
      Consensus CDS
      CCDS33760.1
      UniProtKB/Swiss-Prot
      Q92551
      UniProtKB/TrEMBL
      A0A024R2X2
      Related
      ENSP00000323780.4, OTTHUMP00000212676, ENST00000321599.8, OTTHUMT00000350380
      Conserved Domains (1) summary
      pfam03770
      Location:207434
      IPK; Inositol polyphosphate kinase

    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_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      49724295..49786540 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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