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    ITPK1 inositol-tetrakisphosphate 1-kinase [ Homo sapiens (human) ]

    Gene ID: 3705, updated on 12-Mar-2017
    Official Symbol
    ITPK1provided by HGNC
    Official Full Name
    inositol-tetrakisphosphate 1-kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:6177
    See related
    Ensembl:ENSG00000100605 MIM:601838; Vega:OTTHUMG00000171226
    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
    ITRPK1
    Summary
    This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    14q32.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (92936914..93115918, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93403259..93582263, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929002 Neighboring gene chromogranin A Neighboring gene ITPK1 antisense RNA 1 Neighboring gene cytochrome b5 type A pseudogene 3 Neighboring gene modulator of apoptosis 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 meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    NHGRI GWA Catalog
    Genome-wide association study link novel loci to endometriosis.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    inositol trisphosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    inositol-tetrakisphosphate 1-kinase
    Names
    inositol 1,3,4-trisphosphate 5/6-kinase
    ins(1,3,4)P(3) 5/6-kinase
    NP_001136065.1
    NP_001136066.1
    NP_055031.2

    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_051071.1 RefSeqGene

      Range
      5001..181197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142593.2NP_001136065.1  inositol-tetrakisphosphate 1-kinase isoform a

      See identical proteins and their annotated locations for NP_001136065.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice pattern in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AA770154, AF279372, BC018192, BX407816, BX420122, U51336
      Consensus CDS
      CCDS9907.1
      UniProtKB/Swiss-Prot
      Q13572
      UniProtKB/TrEMBL
      A0A024R6H3
      Related
      ENSP00000451091, OTTHUMP00000245497, ENST00000556603, OTTHUMT00000412419
      Conserved Domains (1) summary
      pfam05770
      Location:1318
      Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-kinase
    2. NM_001142594.2NP_001136066.1  inositol-tetrakisphosphate 1-kinase isoform b

      See identical proteins and their annotated locations for NP_001136066.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL117192, BC003622, BX407816, BX420122
      Consensus CDS
      CCDS45157.1
      UniProtKB/Swiss-Prot
      Q13572
      Related
      ENSP00000346272, OTTHUMP00000245496, ENST00000354313, OTTHUMT00000412418
      Conserved Domains (1) summary
      cl17255
      Location:1301
      ATP-grasp_4; ATP-grasp domain
    3. NM_014216.5NP_055031.2  inositol-tetrakisphosphate 1-kinase isoform a

      See identical proteins and their annotated locations for NP_055031.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AA770154, AF279372, BC018192, BX407816, BX420122
      Consensus CDS
      CCDS9907.1
      UniProtKB/Swiss-Prot
      Q13572
      UniProtKB/TrEMBL
      A0A024R6H3
      Related
      ENSP00000267615, OTTHUMP00000245499, ENST00000267615, OTTHUMT00000412421
      Conserved Domains (1) summary
      pfam05770
      Location:1318
      Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-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_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      92936914..93115918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021264.1XP_016876753.1  inositol-tetrakisphosphate 1-kinase isoform X2

      Related
      ENSP00000451893, OTTHUMP00000245498, ENST00000555495, OTTHUMT00000412420
    2. XM_017021263.1XP_016876752.1  inositol-tetrakisphosphate 1-kinase isoform X2

    3. XM_017021262.1XP_016876751.1  inositol-tetrakisphosphate 1-kinase isoform X1

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      51476..230480 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      93341508..93520507 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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