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Aliases for IPPK Gene

Aliases for IPPK Gene

  • Inositol 1,3,4,5,6-Pentakisphosphate 2-Kinase 2 3
  • Ins(1,3,4,5,6)P5 2-Kinase 3 4
  • InsP5 2-Kinase 3 4
  • IPK1 Homolog 3 4
  • EC 2.7.1.158 4 64
  • C9orf12 3 4
  • Inositol-1,3,4,5,6-Pentakisphosphate 2-Kinase 4
  • Inositol-Pentakisphosphate 2-Kinase 3
  • Chromosome 9 Open Reading Frame 12 2
  • BA476B13.1 (Novel Protein) 3
  • BA476B13.1 3
  • INSP5K2 3
  • IP5K 3
  • IPK1 3

External Ids for IPPK Gene

Previous Symbols for IPPK Gene

  • C9orf12

Summaries for IPPK Gene

Entrez Gene Summary for IPPK Gene

  • 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]

GeneCards Summary for IPPK Gene

IPPK (Inositol 1,3,4,5,6-Pentakisphosphate 2-Kinase) is a Protein Coding gene. Diseases associated with IPPK include atrial heart septal defect and heart septal defect. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include inositol pentakisphosphate 2-kinase activity.

UniProtKB/Swiss-Prot for IPPK Gene

  • Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IPPK Gene

Genomics for IPPK Gene

Genomic Location for IPPK Gene

Start:
92,613,184 bp from pter
End:
92,670,265 bp from pter
Size:
57,082 bases
Orientation:
Minus strand

Genomic View for IPPK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IPPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IPPK Gene

Regulatory Elements for IPPK Gene

Proteins for IPPK Gene

  • Protein details for IPPK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8X2-IPPK_HUMAN
    Recommended name:
    Inositol-pentakisphosphate 2-kinase
    Protein Accession:
    Q9H8X2
    Secondary Accessions:
    • Q5T9F7
    • Q9H7V8

    Protein attributes for IPPK Gene

    Size:
    491 amino acids
    Molecular mass:
    56017 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14866.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI12593.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for IPPK Gene

Proteomics data for IPPK Gene at MOPED

Selected DME Specific Peptides for IPPK Gene

Post-translational modifications for IPPK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IPPK Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for IPPK Gene

Protein Domains for IPPK Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

IPPK_HUMAN
Domain:
  • The EXKPK motif is conserved in inositol-pentakisphosphate 2-kinases of both family 1 and 2:
    • Q9H8X2
Family:
  • Belongs to the IPK1 type 2 family.:
    • Q9H8X2
genes like me logo Genes that share domains with IPPK: view

No data available for Gene Families for IPPK Gene

Function for IPPK Gene

Molecular function for IPPK Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.43 uM for Ins(1,3,4,5,6)P5 {ECO:0000269 PubMed:12084730}; KM=21 uM for ATP {ECO:0000269 PubMed:12084730}; Vmax=31 nmol/min/mg enzyme {ECO:0000269 PubMed:12084730};
UniProtKB/Swiss-Prot CatalyticActivity: ATP + 1D-myo-inositol 1,3,4,5,6-pentakisphosphate = ADP + 1D-myo-inositol hexakisphosphate.
UniProtKB/Swiss-Prot Function: Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis.

Enzyme Numbers (IUBMB) for IPPK Gene

Gene Ontology (GO) - Molecular Function for IPPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0035299 inositol pentakisphosphate 2-kinase activity IDA 12084730
genes like me logo Genes that share ontologies with IPPK: view

Phenotypes for IPPK Gene

MGI mutant phenotypes for IPPK:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with IPPK: view

miRNA for IPPK Gene

miRTarBase miRNAs that target IPPK

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for IPPK Gene

Localization for IPPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for IPPK Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IPPK Gene COMPARTMENTS Subcellular localization image for IPPK gene
Compartment Confidence
cytosol 4
nucleus 4

Gene Ontology (GO) - Cellular Components for IPPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 12084730
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IPPK: view

Pathways for IPPK Gene

genes like me logo Genes that share pathways with IPPK: view

Interacting Proteins for IPPK Gene

Gene Ontology (GO) - Biological Process for IPPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016310 phosphorylation --
GO:0043647 inositol phosphate metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0052746 inositol phosphorylation IDA 12084730
GO:0098779 activation of mitophagy in response to mitochondrial depolarization IMP 22020285
genes like me logo Genes that share ontologies with IPPK: view

Compounds for IPPK Gene

(4) HMDB Compounds for IPPK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Inositol 1,3,4,5,6-pentakisphosphate
  • 1D-myo-Inositol 1,3,4,5,6-pentakisphosphate
20298-95-7
Myo-inositol hexakisphosphate
  • 1D-myo-Inositol 1,2,3,4,5,6-hexakisphosphate
83-86-3
genes like me logo Genes that share compounds with IPPK: view

Transcripts for IPPK Gene

Unigene Clusters for IPPK Gene

Inositol 1,3,4,5,6-pentakisphosphate 2-kinase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IPPK Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for IPPK Gene

GeneLoc Exon Structure for
IPPK
ECgene alternative splicing isoforms for
IPPK

Expression for IPPK Gene

mRNA expression in normal human tissues for IPPK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IPPK Gene

This gene is overexpressed in Esophagus - Mucosa (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IPPK Gene

SOURCE GeneReport for Unigene cluster for IPPK Gene Hs.459896

mRNA Expression by UniProt/SwissProt for IPPK Gene

Q9H8X2-IPPK_HUMAN
Tissue specificity: Ubiquitously expressed, with high expression in heart, brain, testis and placenta.
genes like me logo Genes that share expressions with IPPK: view

Orthologs for IPPK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IPPK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IPPK 36
  • 99.73 (n)
  • 99.8 (a)
IPPK 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IPPK 37
  • 91 (a)
OneToOne
LOC521083 36
  • 87.64 (n)
  • 91.04 (a)
dog
(Canis familiaris)
Mammalia IPPK 36
  • 87.46 (n)
  • 91.62 (a)
IPPK 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ippk 36
  • 87.8 (n)
  • 91.41 (a)
Ippk 16
Ippk 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IPPK 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
OneToMany
-- 37
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ippk 36
  • 88 (n)
  • 92.23 (a)
chicken
(Gallus gallus)
Aves IPPK 36
  • 74.88 (n)
  • 79.84 (a)
IPPK 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IPPK 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ippk 36
  • 68.51 (n)
  • 68.99 (a)
Str.9767 36
zebrafish
(Danio rerio)
Actinopterygii ippk 36
  • 61.8 (n)
  • 56.78 (a)
ippk 37
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ipk1 37
  • 17 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons IPK1 36
  • 46.94 (n)
  • 38.48 (a)
rice
(Oryza sativa)
Liliopsida Os04g0661200 36
  • 48.99 (n)
  • 34.88 (a)
Species with no ortholog for IPPK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IPPK Gene

ENSEMBL:
Gene Tree for IPPK (if available)
TreeFam:
Gene Tree for IPPK (if available)

Paralogs for IPPK Gene

Pseudogenes.org Pseudogenes for IPPK Gene

genes like me logo Genes that share paralogs with IPPK: view

No data available for Paralogs for IPPK Gene

Variants for IPPK Gene

Sequence variations from dbSNP and Humsavar for IPPK Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs186690 -- 92,623,016(-) cttta(A/G)aaaat intron-variant
rs331376 -- 92,625,578(+) AACGT(A/G)TTGTT intron-variant
rs751781 -- 92,669,088(+) CTTCA(C/T)AAATG intron-variant
rs754600 -- 92,669,747(-) ATCCC(C/T)CCCTA intron-variant
rs754601 -- 92,669,720(-) TCACC(C/T)CAGTA intron-variant

Relevant External Links for IPPK Gene

HapMap Linkage Disequilibrium report
IPPK

No data available for Structural Variations from Database of Genomic Variants (DGV) for IPPK Gene

Disorders for IPPK Gene

(2) University of Copenhagen DISEASES for IPPK Gene

Relevant External Links for IPPK

Genetic Association Database (GAD)
IPPK
genes like me logo Genes that share disorders with IPPK: view

No data available for UniProtKB/Swiss-Prot for IPPK Gene

Publications for IPPK Gene

  1. The synthesis of inositol hexakisphosphate. Characterization of human inositol 1,3,4,5,6-pentakisphosphate 2-kinase. (PMID: 12084730) Verbsky J.W. … Wente S.R. (J. Biol. Chem. 2002) 2 3 4 23
  2. Increased levels of inositol hexakisphosphate (InsP6) protect HEK293 cells from tumor necrosis factor (alpha)- and Fas-induced apoptosis. (PMID: 15967797) Verbsky J. … Majerus P.W. (J. Biol. Chem. 2005) 3 4 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for IPPK Gene

  • Addgene plasmids for IPPK

Sources for IPPK Gene

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