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Aliases for ITPKC Gene

Aliases for ITPKC Gene

  • Inositol-Trisphosphate 3-Kinase C 2 3 5
  • Inositol 1,4,5-Trisphosphate 3-Kinase C 2 3 4
  • InsP 3-Kinase C 3 4
  • IP3 3-Kinase C 3 4
  • EC 2.7.1.127 4 63
  • IP3K C 3 4
  • IP3KC 3 4
  • InsP 3 Kinase C 3
  • IP3-3KC 3

External Ids for ITPKC Gene

Previous GeneCards Identifiers for ITPKC Gene

  • GC19P041862
  • GC19P041614
  • GC19P045899
  • GC19P045914
  • GC19P041223
  • GC19P037656

Summaries for ITPKC Gene

Entrez Gene Summary for ITPKC Gene

  • This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]

GeneCards Summary for ITPKC Gene

ITPKC (Inositol-Trisphosphate 3-Kinase C) is a Protein Coding gene. Diseases associated with ITPKC include kawasaki disease and lymph node disease. Among its related pathways are Calcium signaling pathway and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include calmodulin binding and inositol-1,4,5-trisphosphate 3-kinase activity. An important paralog of this gene is ITPKA.

UniProtKB/Swiss-Prot for ITPKC Gene

  • Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate.

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

Genomics for ITPKC Gene

Regulatory Elements for ITPKC Gene

Enhancers for ITPKC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ITPKC on UCSC Golden Path with GeneCards custom track

Promoters for ITPKC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITPKC on UCSC Golden Path with GeneCards custom track

Genomic Location for ITPKC Gene

Chromosome:
19
Start:
40,716,980 bp from pter
End:
40,740,860 bp from pter
Size:
23,881 bases
Orientation:
Plus strand

Genomic View for ITPKC Gene

Genes around ITPKC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ITPKC Gene

Proteins for ITPKC Gene

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

    Protein Symbol:
    Q96DU7-IP3KC_HUMAN
    Recommended name:
    Inositol-trisphosphate 3-kinase C
    Protein Accession:
    Q96DU7
    Secondary Accessions:
    • Q9UE25
    • Q9Y475

    Protein attributes for ITPKC Gene

    Size:
    683 amino acids
    Molecular mass:
    75207 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ITPKC Gene

neXtProt entry for ITPKC Gene

Proteomics data for ITPKC Gene at MOPED

Selected DME Specific Peptides for ITPKC Gene

Post-translational modifications for ITPKC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ITPKC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for ITPKC Gene

Gene Families for ITPKC Gene

Protein Domains for ITPKC Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ITPKC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96DU7

UniProtKB/Swiss-Prot:

IP3KC_HUMAN :
  • Belongs to the inositol phosphokinase (IPK) family.
Family:
  • Belongs to the inositol phosphokinase (IPK) family.
genes like me logo Genes that share domains with ITPKC: view

Function for ITPKC Gene

Molecular function for ITPKC Gene

GENATLAS Biochemistry:
inositol,1,4,5-triphosphate 3 kinase-C
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol 1,4,5-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium/calmodulin. Inhibited by high concentrations of the substrate Ins(1,2,4)P3, and allosterically activated by the product Ins(1,3,4,5)P4.
UniProtKB/Swiss-Prot Function:
Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate.

Enzyme Numbers (IUBMB) for ITPKC Gene

Gene Ontology (GO) - Molecular Function for ITPKC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity IEA,TAS --
genes like me logo Genes that share ontologies with ITPKC: view
genes like me logo Genes that share phenotypes with ITPKC: view

Animal Models for ITPKC Gene

MGI Knock Outs for ITPKC:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITPKC Gene

Localization for ITPKC Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITPKC Gene

Nucleus. Cytoplasm. Note=Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITPKC Gene COMPARTMENTS Subcellular localization image for ITPKC gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ITPKC Gene

Pathways & Interactions for ITPKC Gene

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

Interacting Proteins for ITPKC Gene

Gene Ontology (GO) - Biological Process for ITPKC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043647 inositol phosphate metabolic process TAS --
GO:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
genes like me logo Genes that share ontologies with ITPKC: view

No data available for SIGNOR curated interactions for ITPKC Gene

Drugs & Compounds for ITPKC Gene

(2) Drugs for ITPKC Gene - From: HMDB

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

(3) Additional Compounds for ITPKC 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-tetraphosphate
  • 1,3,4,5-Tetrakis(dihydrogen phosphate) myo-Inositol
  • 1D-Myo-inositol 1,3,4,5-tetrakis(dihydrogen phosphate)
  • 1D-Myo-inositol 1,3,4,5-tetrakisphosphate
  • D-Myo-inositol 1,3,4,5-tetrakisphosphate
  • Inositol 1,3,4,5-tetrakis(phosphate)
102850-29-3
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0
genes like me logo Genes that share compounds with ITPKC: view

Transcripts for ITPKC Gene

mRNA/cDNA for ITPKC Gene

Unigene Clusters for ITPKC Gene

Inositol-trisphosphate 3-kinase C:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for ITPKC Gene

GeneLoc Exon Structure for
ITPKC
ECgene alternative splicing isoforms for
ITPKC

Expression for ITPKC Gene

mRNA expression in normal human tissues for ITPKC Gene

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

This gene is overexpressed in Esophagus - Mucosa (x4.4).

Protein differential expression in normal tissues from HIPED for ITPKC Gene

This gene is overexpressed in Cervix (63.1).

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



SOURCE GeneReport for Unigene cluster for ITPKC Gene Hs.515415

mRNA Expression by UniProt/SwissProt for ITPKC Gene

Q96DU7-IP3KC_HUMAN
Tissue specificity: Highly expressed in pancreas, skeletal muscle, liver, placenta and weakly in kidney and brain.
genes like me logo Genes that share expression patterns with ITPKC: view

Protein tissue co-expression partners for ITPKC Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ITPKC Gene

Orthologs for ITPKC Gene

This gene was present in the common ancestor of animals.

Orthologs for ITPKC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITPKC 35
  • 86.41 (n)
  • 82.29 (a)
ITPKC 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITPKC 35
  • 86.21 (n)
  • 85.34 (a)
ITPKC 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itpkc 35
  • 81.55 (n)
  • 77.08 (a)
Itpkc 16
Itpkc 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITPKC 35
  • 99.27 (n)
  • 98.98 (a)
ITPKC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itpkc 35
  • 81.23 (n)
  • 76.82 (a)
oppossum
(Monodelphis domestica)
Mammalia ITPKC 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITPKC 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPKC 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itpkc 35
  • 64.53 (n)
  • 67.13 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3890 35
zebrafish
(Danio rerio)
Actinopterygii itpkca 36
  • 51 (a)
OneToMany
itpkcb 36
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta IP3K1 37
  • 40 (a)
IP3K2 37
  • 53 (a)
IP3K2 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lfe-2 37
  • 44 (a)
lfe-2 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for ITPKC:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITPKC Gene

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

Paralogs for ITPKC Gene

Paralogs for ITPKC Gene

(3) SIMAP similar genes for ITPKC Gene using alignment to 2 proteins:

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

Variants for ITPKC Gene

Sequence variations from dbSNP and Humsavar for ITPKC Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs7257602 -- 40,718,993(+) GAATC(A/G)GGAGG intron-variant
rs7260405 -- 40,723,614(+) GCCTC(A/G)GCCTC intron-variant
rs12976551 -- 40,727,053(+) aaaTA(C/T)gccag intron-variant
rs12978970 -- 40,724,381(+) tgaga(C/T)ccggt intron-variant
rs12983335 -- 40,721,450(+) actgc(A/C)acctc intron-variant

Variation tolerance for ITPKC Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.27; 52.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITPKC Gene

HapMap Linkage Disequilibrium report
ITPKC
Human Gene Mutation Database (HGMD)
ITPKC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ITPKC Gene

Disorders for ITPKC Gene

MalaCards: The human disease database

(4) MalaCards diseases for ITPKC Gene - From: OMIM, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kawasaki disease
  • acute febrile mcls
lymph node disease
  • disorder of lymph node
lymphatic system disease
  • adenopathy
lymphadenitis
  • acute adenitis
- elite association - COSMIC cancer census association via MalaCards
Search ITPKC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IP3KC_HUMAN
  • Kawasaki disease (KWD) [MIM:611775]: An acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy. {ECO:0000269 PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ITPKC

Genetic Association Database (GAD)
ITPKC
Human Genome Epidemiology (HuGE) Navigator
ITPKC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITPKC
genes like me logo Genes that share disorders with ITPKC: view

No data available for Genatlas for ITPKC Gene

Publications for ITPKC Gene

  1. Cloning and expression of a cDNA encoding human inositol 1,4,5- trisphosphate 3-kinase C. (PMID: 11085927) Dewaste V. … Erneux C. (Biochem. J. 2000) 2 3 4 23 67
  2. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. (PMID: 18084290) Onouchi Y. … Hata A. (Nat. Genet. 2008) 3 23
  3. Subcellular localisation of human inositol 1,4,5-trisphosphate 3-kinase C: species-specific use of alternative export sites for nucleo-cytoplasmic shuttling indicates divergent roles of the catalytic and N-terminal domains. (PMID: 16740130) Nalaskowski M.M. … Mayr G.W. (Biol. Chem. 2006) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Single-nucleotide polymorphism rs7251246 in ITPKC is associated with susceptibility and coronary artery lesions in Kawasaki disease. (PMID: 24621571) Kuo H.C. … Chang W.C. (PLoS ONE 2014) 3

Products for ITPKC Gene

Sources for ITPKC Gene

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