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Aliases for IPPK Gene

Aliases for IPPK Gene

  • Inositol-Pentakisphosphate 2-Kinase 2 3 5
  • 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 61
  • C9orf12 3 4
  • Inositol-1,3,4,5,6-Pentakisphosphate 2-Kinase 4
  • 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 HGNC Symbols for IPPK Gene

  • C9orf12

Previous GeneCards Identifiers for IPPK Gene

  • GC09M092457
  • GC09M094415
  • GC09M095375
  • GC09M065053

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-Pentakisphosphate 2-Kinase) is a Protein Coding gene. Among its related pathways are Inositol phosphate metabolism (KEGG) and Inositol phosphate metabolism (REACTOME). 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IPPK Gene

Genomics for IPPK Gene

Regulatory Elements for IPPK Gene

Enhancers for IPPK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G093125 1.6 FANTOM5 ENCODE dbSUPER 8.9 -460.3 -460307 10.1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF766 ZNF143 NINJ1 CARD19 ZNF484 LOC101927993 SUSD3 PHF2 IPPK
GH09G092734 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8 -68.0 -67953 7.2 ELF3 PKNOX1 FOXA2 KLF17 ARID4B RARA GATA2 SCRT2 FOS THAP11 CENPP BICD2 IPPK PHF2 NINJ1 CARD19 GC09P092689
GH09G092744 1.1 dbSUPER 10.3 -75.2 -75230 1.1 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 ZNF302 ZNF207 NOL8 PHF2 MTND4P15 CENPP SPTLC1 LINC00475 ZNF484 MTCO3P29 IPPK ECM2
GH09G092607 1.4 Ensembl ENCODE dbSUPER 7.9 +60.1 60073 5.6 PKNOX1 MLX ZNF195 FEZF1 THRB RAD21 RARA ZNF335 ZNF350 EGR2 PHF2 NOL8 LINC00475 CENPP ZNF484 IPPK CARD19 PIR58934 GC09P092539
GH09G092668 1.4 ENCODE dbSUPER 7.5 +0.1 87 3.8 PKNOX1 CREB3L1 ARNT WRNIP1 SIN3A ARID4B ZNF2 YY1 ZNF766 CBX5 CENPP NOL8 IPPK PHF2 ECM2 PIR41553
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IPPK on UCSC Golden Path with GeneCards custom track

Promoters for IPPK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000237936 65 2001 PKNOX1 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF766

Genomic Location for IPPK Gene

Chromosome:
9
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

Genes around IPPK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IPPK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IPPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for IPPK Gene

Q9H8X2:
  • LQIDGPYDE
  • TAKDCSIMI

Post-translational modifications for IPPK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IPPK Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for IPPK Gene

Protein Domains for IPPK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IPPK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H8X2

UniProtKB/Swiss-Prot:

IPPK_HUMAN :
  • The EXKPK motif is conserved in inositol-pentakisphosphate 2-kinases of both family 1 and 2.
  • Belongs to the IPK1 type 2 family.
Domain:
  • The EXKPK motif is conserved in inositol-pentakisphosphate 2-kinases of both family 1 and 2.
Family:
  • Belongs to the IPK1 type 2 family.
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:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0035299 inositol pentakisphosphate 2-kinase activity TAS,IEA --
genes like me logo Genes that share ontologies with IPPK: view
genes like me logo Genes that share phenotypes with IPPK: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for IPPK
  • Applied Biological Materials Clones for IPPK

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IPPK gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for IPPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 12084730
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IPPK: view

Pathways & Interactions for IPPK Gene

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

Gene Ontology (GO) - Biological Process for IPPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016310 phosphorylation IEA --
GO:0043647 inositol phosphate metabolic process TAS --
GO:0052746 inositol phosphorylation IDA 12084730
genes like me logo Genes that share ontologies with IPPK: view

No data available for SIGNOR curated interactions for IPPK Gene

Drugs & Compounds for IPPK Gene

(1) Drugs for IPPK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for IPPK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Inositol 1,3,4,5,6-pentakisphosphate
  • 1D-Myo-Inositol 1,3,4,5,6-pentakisphosphate
  • Inositol 1,3,4,5,6-pentaphosphate
  • Inositol pentaphosphate
  • Myo-Inositol 1,3,4,5,6-pentakis(phosphate)
  • Myo-Inositol 1,3,4,5,6-pentaphosphate
20298-95-7
Myo-inositol hexakisphosphate
  • 1D-Myo-Inositol 1,2,3,4,5,6-hexakisphosphate
  • 1D-Myo-inositol hexakisphosphate
  • D-Myo-Inositol 1,2,3,4,5,6-hexakisphosphate
  • Inositol 1,2,3,4,5,6-hexakisphosphate
  • 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

mRNA/cDNA for IPPK Gene

Unigene Clusters for IPPK Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for IPPK
  • Applied Biological Materials Clones for IPPK

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.5).

Protein differential expression in normal tissues from HIPED for IPPK Gene

This gene is overexpressed in Serum (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IPPK Gene



Protein tissue co-expression partners for IPPK Gene

NURSA nuclear receptor signaling pathways regulating expression of IPPK Gene:

IPPK

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.

Evidence on tissue expression from TISSUES for IPPK Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with IPPK: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IPPK Gene

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 34 35
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia IPPK 35
  • 91 (a)
OneToOne
LOC521083 34
  • 87.64 (n)
rat
(Rattus norvegicus)
Mammalia Ippk 34
  • 88 (n)
mouse
(Mus musculus)
Mammalia Ippk 34 16 35
  • 87.8 (n)
dog
(Canis familiaris)
Mammalia IPPK 34 35
  • 87.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia IPPK 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves IPPK 34 35
  • 74.88 (n)
lizard
(Anolis carolinensis)
Reptilia IPPK 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ippk 34
  • 68.51 (n)
Str.9767 34
zebrafish
(Danio rerio)
Actinopterygii ippk 34 35
  • 61.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ipk1 35
  • 17 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons IPK1 34
  • 46.94 (n)
rice
(Oryza sativa)
Liliopsida Os04g0661200 34
  • 48.99 (n)
Species where no ortholog for IPPK was found in the sources mined by GeneCards:
  • 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
rs1000092409 -- 92,666,208(+) CTCCC(C/T)AAGGC intron-variant
rs1000109915 -- 92,654,078(+) CCACA(C/T)ACAGG intron-variant
rs1000224266 -- 92,660,407(+) CAGGG(C/T)AAACC intron-variant
rs1000243571 -- 92,623,589(+) AATGA(G/T)CAAGA intron-variant
rs1000298789 -- 92,636,724(+) AAGTT(A/G)CAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IPPK Gene

Variant ID Type Subtype PubMed ID
esv3621086 CNV loss 21293372
nsv950893 CNV deletion 24416366

Variation tolerance for IPPK Gene

Residual Variation Intolerance Score: 51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IPPK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IPPK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IPPK Gene

Disorders for IPPK Gene

Relevant External Links for IPPK

Genetic Association Database (GAD)
IPPK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IPPK

No disorders were found for IPPK Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 64
  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 22 64
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H. … Hirschhorn J.N. (Nature 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64

Products for IPPK Gene

  • Addgene plasmids for IPPK

Sources for IPPK Gene

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