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

    Gene ID: 9807, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:18360
    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
    mouse all
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    Genomic context

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    See IP6K1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49724294..49786542, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49753580..49816428, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49761727..49823975, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ring finger protein 123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49754537-49755037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49756083-49756890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19873 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49758476-49758653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14372 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 PHF5A pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49823653-49824342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19875 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49824674-49824838 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49825619-49825828 Neighboring gene cadherin related family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14375 Neighboring gene inka box actin regulator 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Discovery of InsP6-kinases as InsP6-dephosphorylating enzymes provides a new mechanism of cytosolic InsP6 degradation driven by the cellular ATP/ADP ratio. Wundenberg T, et al. Biochem J, 2014 Aug 15. PMID 24865181
    2. IP6K1 upregulates the formation of processing bodies by influencing protein-protein interactions on the mRNA cap. Shah A, et al. J Cell Sci, 2021 Dec 15. PMID 34841428
    3. The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. Kamimura J, et al. J Hum Genet, 2004. PMID 15221640
    4. Localization of PiUS, a stimulator of cellular phosphate uptake to human chromosome 3p21.3. White KE, et al. Somat Cell Mol Genet, 1998 Jan. PMID 9776982
    5. Pleiotropic actions of IP6K1 mediate hepatic metabolic dysfunction to promote nonalcoholic fatty liver disease and steatohepatitis. Mukherjee S, et al. Mol Metab, 2021 Dec. PMID 34757046, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pleiotropic actions of IP6K1 mediate hepatic metabolic dysfunction to promote nonalcoholic fatty liver disease and steatohepatitis.
      Title: Pleiotropic actions of IP6K1 mediate hepatic metabolic dysfunction to promote nonalcoholic fatty liver disease and steatohepatitis.
    2. IP6K1 upregulates the formation of processing bodies by influencing protein-protein interactions on the mRNA cap.
      Title: IP6K1 upregulates the formation of processing bodies by influencing protein-protein interactions on the mRNA cap.
    3. miR-125a-5p impairs the metastatic potential in breast cancer via IP6K1 targeting.
      Title: miR-125a-5p impairs the metastatic potential in breast cancer via IP(6)K1 targeting.
    4. conclude that IP6K1 and -2 together control inositol pyrophosphate metabolism and thereby physiologically regulate phosphate export and other aspects of mammalian cellular phosphate homeostasis
      Title: The inositol hexakisphosphate kinases IP6K1 and -2 regulate human cellular phosphate homeostasis, including XPR1-mediated phosphate export.
    5. the unique metabolic sensing properties of IP6K1 guarantees appropriate concentrations of IP7 and thereby both correct basal insulin secretion and intact first phase insulin release.
      Title: Inositol hexakisphosphate kinase 1 is a metabolic sensor in pancreatic β-cells.
    6. IP6K1 physiologically regulates neuronal migration by binding to alpha-actinin and influencing phosphorylation of both FAK and alpha-actinin through its product 5-diphosphoinositol pentakisphosphate.
      Title: Neuronal migration is mediated by inositol hexakisphosphate kinase 1 via α-actinin and focal adhesion kinase.
    7. provides the first evidence for the involvement of IP6Ks in dynein function and proposes that inositol pyrophosphate-mediated pyrophosphorylation may act as a regulatory signal to enhance dynein-driven transport
      Title: Inositol hexakisphosphate kinase 1 (IP6K1) activity is required for cytoplasmic dynein-driven transport.
    8. IP6K1 is also involved in early cytoskeleton remodeling events during cancer progression.
      Title: Deletion of inositol hexakisphosphate kinase 1 (IP6K1) reduces cell migration and invasion, conferring protection from aerodigestive tract carcinoma in mice.
    9. IP6K1 is a novel CRL4 subunit that transduces UV signals to mediate disassembly of the CRL4-CSN complex, thereby regulating nucleotide excision repair and cell death.
      Title: Inositol hexakisphosphate kinase-1 mediates assembly/disassembly of the CRL4-signalosome complex to regulate DNA repair and cell death.
    10. we identified IP6Ks as novel nuclear and cytosolic InsP6- (and InsP5-) dephosphorylating enzymes whose activity is sensitively driven by a decrease in the cellular ATP/ADP ratio
      Title: Discovery of InsP6-kinases as InsP6-dephosphorylating enzymes provides a new mechanism of cytosolic InsP6 degradation driven by the cellular ATP/ADP ratio.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC9925

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables diphosphoinositol pentakisphosphate kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables diphosphoinositol tetrakisphosphate kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables inositol 5-diphosphate pentakisphosphate 5-kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables inositol hexakisphosphate 1-kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol hexakisphosphate 5-kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol hexakisphosphate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol hexakisphosphate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol hexakisphosphate kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables inositol-1,3,4,5,6-pentakisphosphate kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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

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    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
    XP_047305279.1
    XP_047305280.1
    XP_054204557.1
    XP_054204558.1

    NCBI Reference Sequences (RefSeq)

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    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_001006115.3 → NP_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)
      AC099668, AC139451, 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:42 → 269
      IPK; Inositol polyphosphate kinase

    2. NM_001242829.2 → NP_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, AC139451, D87452, DB099697
      Consensus CDS
      CCDS33760.1
      UniProtKB/Swiss-Prot
      A8K157, A8MUX4, Q7L3I7, Q92551, Q96E38
      Related
      ENSP00000482032.1, ENST00000613416.4
      Conserved Domains (1) summary
      pfam03770
      Location:207 → 434
      IPK; Inositol polyphosphate kinase

    3. NM_153273.4 → NP_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)
      AC099668, AC139451, AL561521, BE387671, BG720032, CB152138, D87452
      Consensus CDS
      CCDS33760.1
      UniProtKB/Swiss-Prot
      A8K157, A8MUX4, Q7L3I7, Q92551, Q96E38
      Related
      ENSP00000323780.4, ENST00000321599.9
      Conserved Domains (1) summary
      pfam03770
      Location:207 → 434
      IPK; Inositol polyphosphate 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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49724294..49786542 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449323.1 → XP_047305279.1  inositol hexakisphosphate kinase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K157, A8MUX4, Q7L3I7, Q92551, Q96E38

    2. XM_047449324.1 → XP_047305280.1  inositol hexakisphosphate kinase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K157, A8MUX4, Q7L3I7, Q92551, Q96E38

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49753580..49816428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348582.1 → XP_054204557.1  inositol hexakisphosphate kinase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K157, A8MUX4, Q7L3I7, Q92551, Q96E38

    2. XM_054348583.1 → XP_054204558.1  inositol hexakisphosphate kinase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K157, A8MUX4, Q7L3I7, Q92551, Q96E38
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92551.3 GenPept UniProtKB/Swiss-Prot:Q92551

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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