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

Gene ID: 64768, updated on 5-Mar-2024

Summary

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Official Symbol
IPPKprovided by HGNC
Official Full Name
inositol-pentakisphosphate 2-kinaseprovided by HGNC
Primary source
HGNC:HGNC:14645
See related
Ensembl:ENSG00000127080 MIM:619043; AllianceGenome:HGNC:14645
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
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Genomic context

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See IPPK in Genome Data Viewer
Location:
9q22.31
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92613183..92670131, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (104779754..104836695, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95375465..95432413, 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 Sharpr-MPRA regulatory region 3268 Neighboring gene microRNA 4670 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:95320296-95321495 Neighboring gene uncharacterized LOC100128361 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:95383063-95383333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28597 Neighboring gene uncharacterized LOC107987095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28598 Neighboring gene Sharpr-MPRA regulatory region 2132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109781 Neighboring gene ribosomal protein L21 pseudogene 86

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Urine inositol pentakisphosphate 2-kinase and changes in kidney structure in early diabetic kidney disease in type 1 diabetes. Looker HC, et al. Am J Physiol Renal Physiol, 2018 Nov 1. PMID 30132343, Free PMC Article
  2. Conformational stability of inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPK1) dictates its substrate selectivity. Gosein V, et al. J Biol Chem, 2013 Dec 27. PMID 24165122, Free PMC Article
  3. Physiological levels of PTEN control the size of the cellular Ins(1,3,4,5,6)P(5) pool. Deleu S, et al. Cell Signal, 2006 Apr. PMID 15979280
  4. Depletion of mRNA export regulator DBP5/DDX19, GLE1 or IPPK that is a key enzyme for the production of IP6, resulting in differentially altered cytoplasmic mRNA expression and specific cell defect. Okamura M, et al. PLoS One, 2018. PMID 29746542, Free PMC Article
  5. Increased levels of inositol hexakisphosphate (InsP6) protect HEK293 cells from tumor necrosis factor (alpha)- and Fas-induced apoptosis. Verbsky J, et al. J Biol Chem, 2005 Aug 12. PMID 15967797

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Higher urine IPP2K/Cr is associated with less severe kidney lesions at baseline and with preservation of kidney structure over 5 yr in individuals with type 1 diabetes and no clinical evidence of DKD at baseline.
    Title: Urine inositol pentakisphosphate 2-kinase and changes in kidney structure in early diabetic kidney disease in type 1 diabetes.
  2. These results imply that DBP5, GLE1 and IP6 have a conserved and individual function in the cytoplasmic mRNA expression. Variations in phenotype are due to the difference in each function of DBP5, GLE1 and IPPK in intracellular mRNA metabolism.
    Title: Depletion of mRNA export regulator DBP5/DDX19, GLE1 or IPPK that is a key enzyme for the production of IP6, resulting in differentially altered cytoplasmic mRNA expression and specific cell defect.
  3. IP6 synthase, Ins(1,3,4,5,6)P5 2-kinase (IPPK/IP5K) binds to cullins. Depleting IP5K increases the percentage of neddylated, active Cul1 and Cul4A, and decreases levels of the Cul1/4A substrates p27 and p21.
    Title: Inositol hexakisphosphate (IP6) generated by IP5K mediates cullin-COP9 signalosome interactions and CRL function.
  4. IPK1 substrate selection is linked to the ability of each potential substrate to stabilize IPK1.
    Title: Conformational stability of inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPK1) dictates its substrate selectivity.
  5. identified a genomic DNA sequence on chromosome 9 that encodes inositol 1,3,4,5,6-pentakisphosphate 2-kinase; characterization of the enzyme
    Title: The synthesis of inositol hexakisphosphate. Characterization of human inositol 1,3,4,5,6-pentakisphosphate 2-kinase.
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
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
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)

Genotypes

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

  • FLJ13163, KIAA0699

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables inositol pentakisphosphate 2-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables inositol pentakisphosphate 2-kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inositol pentakisphosphate 2-kinase activity TAS
Traceable Author Statement
more info
  
enables molecular adaptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
involved_in inositol phosphate metabolic process TAS
Traceable Author Statement
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleolus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in nucleoplasm 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-pentakisphosphate 2-kinase
Names
IPK1 homolog
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
XP_047279688.1
XP_054219529.1
XP_054219530.1

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.

Genomic

  1. NG_027879.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_022755.6 → NP_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
    Q5T9F7, Q9H7V8, Q9H8X2
    Related
    ENSP00000287996.3, ENST00000287996.8
    Conserved Domains (1) summary
    pfam06090
    Location:13 → 455
    Ins_P5_2-kin; Inositol-pentakisphosphate 2-kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    92613183..92670131 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_047423732.1 → XP_047279688.1  inositol-pentakisphosphate 2-kinase isoform X2

    UniProtKB/TrEMBL
    X6R9A6
    Related
    ENSP00000364672.2, ENST00000375522.2

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791788.1 Reference GRCh38.p14 PATCHES

    Range
    447910..477543 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    104779754..104836695 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363554.1 → XP_054219529.1  inositol-pentakisphosphate 2-kinase isoform X1

  2. XM_054363555.1 → XP_054219530.1  inositol-pentakisphosphate 2-kinase isoform X2

    UniProtKB/TrEMBL
    X6R9A6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H8X2.1 GenPept UniProtKB/Swiss-Prot:Q9H8X2

Gene LinkOut

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