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    IPPK inositol-pentakisphosphate 2-kinase [ Homo sapiens (human) ]

    Gene ID: 64768, updated on 27-Nov-2024

    Summary

    Official Symbol
    IPPKprovided by HGNC
    Official Full Name
    inositol-pentakisphosphate 2-kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:14645
    See related
    Ensembl:ENSG00000127080 MIM:619043; AllianceGenome:HGNC:14645
    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
    IP5K; IPK1; C9orf12; INSP5K2; bA476B13.1
    Summary
    The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in skin (RPKM 15.1), esophagus (RPKM 8.3) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See IPPK in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92613183..92670131, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (104779754..104836695, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95375465..95432413, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene centromere protein P Neighboring gene asporin Neighboring gene extracellular matrix protein 2 Neighboring gene Sharpr-MPRA regulatory region 3268 Neighboring gene microRNA 4670 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:95320296-95321495 Neighboring gene uncharacterized LOC100128361 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:95383063-95383333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28597 Neighboring gene uncharacterized LOC107987095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28598 Neighboring gene Sharpr-MPRA regulatory region 2132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109781 Neighboring gene ribosomal protein L21 pseudogene 86

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13163, KIAA0699

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables inositol-1,3,4,5,6-pentakisphosphate 2-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables inositol-1,3,4,5,6-pentakisphosphate 2-kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables inositol-1,3,4,5,6-pentakisphosphate 2-kinase activity TAS
    Traceable Author Statement
    more info
     
    enables molecular adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleolus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    inositol-pentakisphosphate 2-kinase
    Names
    IPK1 homolog
    inositol 1,3,4,5,6-pentakisphosphate 2-kinase
    ins(1,3,4,5,6)P5 2-kinase
    insP5 2-kinase
    NP_073592.1
    XP_016870530.1
    XP_047279688.1
    XP_054219529.1
    XP_054219530.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_027879.1 RefSeqGene

      Range
      5135..62083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022755.6NP_073592.1  inositol-pentakisphosphate 2-kinase

      See identical proteins and their annotated locations for NP_073592.1

      Status: REVIEWED

      Source sequence(s)
      AL157827, BC026154
      Consensus CDS
      CCDS6699.1
      UniProtKB/Swiss-Prot
      Q5T9F7, Q9H7V8, Q9H8X2
      Related
      ENSP00000287996.3, ENST00000287996.8
      Conserved Domains (1) summary
      pfam06090
      Location:13455
      Ins_P5_2-kin; Inositol-pentakisphosphate 2-kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      92613183..92670131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015041.2XP_016870530.1  inositol-pentakisphosphate 2-kinase isoform X1

    2. XM_047423732.1XP_047279688.1  inositol-pentakisphosphate 2-kinase isoform X2

      UniProtKB/TrEMBL
      X6R9A6
      Related
      ENSP00000364672.2, ENST00000375522.2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791788.1 Reference GRCh38.p14 PATCHES

      Range
      447910..477543 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      104779754..104836695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363554.1XP_054219529.1  inositol-pentakisphosphate 2-kinase isoform X1

    2. XM_054363555.1XP_054219530.1  inositol-pentakisphosphate 2-kinase isoform X2

      UniProtKB/TrEMBL
      X6R9A6