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IP6K3 inositol hexakisphosphate kinase 3 [ Homo sapiens (human) ]

Gene ID: 117283, updated on 10-Dec-2024

Summary

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Official Symbol
IP6K3provided by HGNC
Official Full Name
inositol hexakisphosphate kinase 3provided by HGNC
Primary source
HGNC:HGNC:17269
See related
Ensembl:ENSG00000161896 MIM:606993; AllianceGenome:HGNC:17269
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
IHPK3; INSP6K3
Summary
This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely 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. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
Expression
Broad expression in thyroid (RPKM 4.4), heart (RPKM 3.1) and 14 other tissues See more
Orthologs
mouse all
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Genomic context

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See IP6K3 in Genome Data Viewer
Location:
6p21.31
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33721662..33762145, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33542845..33583325, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33689439..33714682, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33665333-33666308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33672165-33672664 Neighboring gene microRNA 3934 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 2 Neighboring gene uncharacterized LOC124901304 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33678073-33678970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24368 Neighboring gene Sharpr-MPRA regulatory region 11056 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:33692274-33693024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33695430-33696209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33696210-33696988 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33703405-33703659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33710674-33711363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33711622-33712515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33712516-33713408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33713409-33714302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33718585-33719144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33719703-33720261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33728947-33729550 Neighboring gene Sharpr-MPRA regulatory region 8162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33740622-33741320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33747376-33748316 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33748317-33749256 Neighboring gene LEM domain nuclear envelope protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33750197-33751135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:33755871-33756420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24369 Neighboring gene uncharacterized LOC105375024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33758333-33758936 Neighboring gene motilin

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. Contribution of polymorphic variation of inositol hexakisphosphate kinase 3 (IP6K3) gene promoter to the susceptibility to late onset Alzheimer's disease. Crocco P, et al. Biochim Biophys Acta, 2016 Sep. PMID 27345265
  2. IP6K3 and IPMK variations in LOAD and longevity: Evidence for a multifaceted signaling network at the crossroad between neurodegeneration and survival. Dato S, et al. Mech Ageing Dev, 2021 Apr. PMID 33497757
  3. Inositol Hexakisphosphate Kinase 3 Regulates Metabolism and Lifespan in Mice. Moritoh Y, et al. Sci Rep, 2016 Aug 31. PMID 27577108, Free PMC Article
  4. Identification and characterization of a novel inositol hexakisphosphate kinase. Saiardi A, et al. J Biol Chem, 2001 Oct 19. PMID 11502751
  5. Common genetic variants associate with serum phosphorus concentration. Kestenbaum B, et al. J Am Soc Nephrol, 2010 Jul. PMID 20558539, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IP6K3 and IPMK variations in LOAD and longevity: Evidence for a multifaceted signaling network at the crossroad between neurodegeneration and survival.
    Title: IP6K3 and IPMK variations in LOAD and longevity: Evidence for a multifaceted signaling network at the crossroad between neurodegeneration and survival.
  2. Two SNPs in the 5'-flanking promoter region of the IP6K3 gene were found to be associated with sporadic late onset Alzheimer's disease. Characterizing the functionality of the two polymorphisms by luciferase assay revealed that one of them (rs28607030) affects IP6K3 promoter activity, with the G allele showing an increased activity.
    Title: Contribution of polymorphic variation of inositol hexakisphosphate kinase 3 (IP6K3) gene promoter to the susceptibility to late onset Alzheimer's disease.
  3. High levels of IP6K3 mRNA were found in myotubes and muscle tissues. In myotubes, IP6K3 was upregulated by dexamethasone treatment, which is known to inhibit glucose metabolism.
    Title: Inositol Hexakisphosphate Kinase 3 Regulates Metabolism and Lifespan in Mice.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Submit: New GeneRIF Correction

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
Common genetic variants associate with serum phosphorus concentration.
EBI GWAS Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
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

  • MGC102928

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 6-kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
acts_upstream_of_or_within inositol phosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inositol phosphate metabolic process TAS
Traceable Author Statement
more info
  
involved_in locomotion IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylinositol metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphatidylinositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein phosphorylation 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 cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol 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 3
Names
ATP:1D-myo-inositol-hexakisphosphate phosphotransferase
InsP6 kinase 3
inositol hexaphosphate kinase 3
NP_001136355.1
NP_473452.2
XP_005248899.1
XP_005248900.1
XP_011512597.1
XP_024302091.1
XP_024302092.1
XP_024302093.1
XP_047274124.1
XP_054210172.1
XP_054210173.1
XP_054210174.1
XP_054210175.1
XP_054210176.1
XP_054210177.1

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_001142883.2 → NP_001136355.1  inositol hexakisphosphate kinase 3

    See identical proteins and their annotated locations for NP_001136355.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    AK289935, AL139044, BC089389
    Consensus CDS
    CCDS34435.1
    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4
    Related
    ENSP00000398861.1, ENST00000451316.6
    Conserved Domains (1) summary
    pfam03770
    Location:198 → 404
    IPK; Inositol polyphosphate kinase

  2. NM_054111.5 → NP_473452.2  inositol hexakisphosphate kinase 3

    See identical proteins and their annotated locations for NP_473452.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript.
    Source sequence(s)
    AK289935, AL139044, BC089389
    Consensus CDS
    CCDS34435.1
    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4
    Related
    ENSP00000293756.4, ENST00000293756.5
    Conserved Domains (1) summary
    pfam03770
    Location:198 → 404
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    33721662..33762145 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446324.2 → XP_024302092.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4
    Conserved Domains (1) summary
    pfam03770
    Location:198 → 404
    IPK; Inositol polyphosphate kinase

  2. XM_024446325.2 → XP_024302093.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4
    Conserved Domains (1) summary
    pfam03770
    Location:198 → 404
    IPK; Inositol polyphosphate kinase

  3. XM_047418168.1 → XP_047274124.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4

  4. XM_011514295.4 → XP_011512597.1  inositol hexakisphosphate kinase 3 isoform X3

    Conserved Domains (1) summary
    cl12283
    Location:198 → 256
    IPK; Inositol polyphosphate kinase

  5. XM_005248842.4 → XP_005248899.1  inositol hexakisphosphate kinase 3 isoform X1

    See identical proteins and their annotated locations for XP_005248899.1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4
    Conserved Domains (1) summary
    pfam03770
    Location:198 → 404
    IPK; Inositol polyphosphate kinase

  6. XM_024446323.2 → XP_024302091.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4
    Conserved Domains (1) summary
    pfam03770
    Location:198 → 404
    IPK; Inositol polyphosphate kinase

  7. XM_005248843.5 → XP_005248900.1  inositol hexakisphosphate kinase 3 isoform X2

    Conserved Domains (1) summary
    pfam03770
    Location:85 → 291
    IPK; Inositol polyphosphate kinase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    33542845..33583325 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354198.1 → XP_054210173.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4

  2. XM_054354200.1 → XP_054210175.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4

  3. XM_054354202.1 → XP_054210177.1  inositol hexakisphosphate kinase 3 isoform X3

  4. XM_054354199.1 → XP_054210174.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4

  5. XM_054354197.1 → XP_054210172.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9, Q96PC2
    UniProtKB/TrEMBL
    A8K1M0, Q53ER7, Q5TAQ4

  6. XM_054354201.1 → XP_054210176.1  inositol hexakisphosphate kinase 3 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PC2.2 GenPept UniProtKB/Swiss-Prot:Q96PC2

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