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

Gene ID: 9807, updated on 24-Nov-2020

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
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

Genomic context

See IP6K1 in Genome Data Viewer
Location:
3p21.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49724294..49786542, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49761728..49823973, 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

Associated conditions

Description Tests
A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

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

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

NCBI Reference Sequences (RefSeq)

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
    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
    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 Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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