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

Gene ID: 117283, updated on 12-Aug-2022

Summary

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
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Genomic context

See IP6K3 in Genome Data Viewer
Location:
6p21.31
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33721662..33762145, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33542845..33568085, complement)
105.20220307 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 ubiquinol-cytochrome c reductase complex assembly factor 2 Neighboring gene uncharacterized LOC124901304 Neighboring gene Sharpr-MPRA regulatory region 11056 Neighboring gene Sharpr-MPRA regulatory region 8162 Neighboring gene LEM domain nuclear envelope protein 2

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
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC102928

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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

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_001142883.2NP_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, Q5TAQ4
    Related
    ENSP00000398861.1, ENST00000451316.6
    Conserved Domains (1) summary
    pfam03770
    Location:198404
    IPK; Inositol polyphosphate kinase
  2. NM_054111.5NP_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, Q5TAQ4
    Related
    ENSP00000293756.4, ENST00000293756.5
    Conserved Domains (1) summary
    pfam03770
    Location:198404
    IPK; Inositol polyphosphate kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_024446324.2XP_024302092.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9
    UniProtKB/TrEMBL
    Q5TAQ4
    Conserved Domains (1) summary
    pfam03770
    Location:198404
    IPK; Inositol polyphosphate kinase
  2. XM_024446325.2XP_024302093.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9
    UniProtKB/TrEMBL
    Q5TAQ4
    Conserved Domains (1) summary
    pfam03770
    Location:198404
    IPK; Inositol polyphosphate kinase
  3. XM_047418168.1XP_047274124.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9
    UniProtKB/TrEMBL
    Q5TAQ4
  4. XM_011514295.4XP_011512597.1  inositol hexakisphosphate kinase 3 isoform X3

    Conserved Domains (1) summary
    cl12283
    Location:198256
    IPK; Inositol polyphosphate kinase
  5. XM_005248842.4XP_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
    Q5TAQ4
    Conserved Domains (1) summary
    pfam03770
    Location:198404
    IPK; Inositol polyphosphate kinase
  6. XM_024446323.2XP_024302091.1  inositol hexakisphosphate kinase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96MQ9
    UniProtKB/TrEMBL
    Q5TAQ4
    Conserved Domains (1) summary
    pfam03770
    Location:198404
    IPK; Inositol polyphosphate kinase
  7. XM_005248843.5XP_005248900.1  inositol hexakisphosphate kinase 3 isoform X2

    Conserved Domains (1) summary
    pfam03770
    Location:85291
    IPK; Inositol polyphosphate kinase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    33542845..33568085 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)