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IPPK inositol-pentakisphosphate 2-kinase [ Homo sapiens (human) ]

Gene ID: 64768, updated on 13-Mar-2020

Summary

Official Symbol
IPPKprovided by HGNC
Official Full Name
inositol-pentakisphosphate 2-kinaseprovided by HGNC
Primary source
HGNC:HGNC:14645
See related
Ensembl:ENSG00000127080
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
IP5K; IPK1; C9orf12; INSP5K2; bA476B13.1
Summary
The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
Expression
Ubiquitous expression in skin (RPKM 15.1), esophagus (RPKM 8.3) and 24 other tissues See more
Orthologs

Genomic context

See IPPK in Genome Data Viewer
Location:
9q22.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (92613183..92670259, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95375466..95432547, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene centromere protein P Neighboring gene asporin Neighboring gene extracellular matrix protein 2 Neighboring gene microRNA 4670 Neighboring gene uncharacterized LOC100128361 Neighboring gene uncharacterized LOC107987095 Neighboring gene Sharpr-MPRA regulatory region 2132 Neighboring gene ribosomal protein L21 pseudogene 86

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

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13163, KIAA0699

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
inositol pentakisphosphate 2-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol pentakisphosphate 2-kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
inositol pentakisphosphate 2-kinase activity TAS
Traceable Author Statement
more info
 
molecular adaptor activity IMP
Inferred from Mutant Phenotype
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
 
inositol phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleolus IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
inositol-pentakisphosphate 2-kinase
Names
IPK1 homolog
bA476B13.1 (novel protein)
inositol 1,3,4,5,6-pentakisphosphate 2-kinase
ins(1,3,4,5,6)P5 2-kinase
insP5 2-kinase
NP_073592.1
XP_016870530.1

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.

Genomic

  1. NG_027879.1 RefSeqGene

    Range
    5135..62083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022755.6NP_073592.1  inositol-pentakisphosphate 2-kinase

    See identical proteins and their annotated locations for NP_073592.1

    Status: REVIEWED

    Source sequence(s)
    AL157827, BC026154
    Consensus CDS
    CCDS6699.1
    UniProtKB/Swiss-Prot
    Q9H8X2
    Related
    ENSP00000287996.3, ENST00000287996.8
    Conserved Domains (1) summary
    pfam06090
    Location:13455
    Ins_P5_2-kin; Inositol-pentakisphosphate 2-kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    92613183..92670259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015041.1XP_016870530.1  inositol-pentakisphosphate 2-kinase isoform X1

RNA

  1. XR_001746365.1 RNA Sequence

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