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

Gene ID: 9807, updated on 12-Aug-2022

Summary

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
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Genomic context

See IP6K1 in Genome Data Viewer
Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49724294..49786542, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49753580..49816428, complement)
105.20220307 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 adhesion molecule with Ig like domain 3 Neighboring gene GDP-mannose pyrophosphorylase B Neighboring gene cytochrome c oxidase subunit 6C pseudogene 14 Neighboring gene PHD finger protein 5E pseudogene Neighboring gene cadherin related family member 4 Neighboring gene inka box actin regulator 1

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
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9925

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in inositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in phosphatidylinositol phosphate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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

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_001006115.3NP_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:42269
    IPK; Inositol polyphosphate kinase
  2. NM_001242829.2NP_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
    Q92551, Q96E38
    UniProtKB/TrEMBL
    A0A024R2X2
    Related
    ENSP00000482032.1, ENST00000613416.4
    Conserved Domains (1) summary
    pfam03770
    Location:207434
    IPK; Inositol polyphosphate kinase
  3. NM_153273.4NP_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
    Q92551, Q96E38
    UniProtKB/TrEMBL
    A0A024R2X2
    Related
    ENSP00000323780.4, ENST00000321599.9
    Conserved Domains (1) summary
    pfam03770
    Location:207434
    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_000003.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q96E38
    UniProtKB/TrEMBL
    A0A024R2X2
  2. XM_047449324.1XP_047305280.1  inositol hexakisphosphate kinase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96E38
    UniProtKB/TrEMBL
    A0A024R2X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

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