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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 61
  • 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 Integrated Breast Cancer Pathway and Metabolism. 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 ITPKB.

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 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
GH19F040713 1.9 FANTOM5 Ensembl ENCODE 54.2 +1.4 1368 9.2 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF416 ZNF548 SP3 NFYC SSRP1 SNRPA ITPKC ENSG00000269843 FBL CCDC97 ENSG00000268366 SERTAD3 PSMC4 COQ8B CYP2G2P
GH19F040747 1.6 FANTOM5 ENCODE 44.3 +35.8 35782 9.8 MLX CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SNRPA FBL ENSG00000269843 COQ8B ITPKC CCDC97 SERTAD3 ENSG00000269069 CYP2G2P ENSG00000271299
GH19F040830 1.4 Ensembl ENCODE 50.2 +115.8 115807 4.6 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF548 SP3 SNRPA ENSG00000269843 FBL ITPKC CCDC97 PSMC4 SERTAD3 ENSG00000268366 COQ8B CYP2F2P
GH19F041294 1.8 FANTOM5 Ensembl ENCODE 36.4 +586.3 586317 16.8 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF526 SNRPA ENSG00000269843 ZNF574 CCDC97 ITPKC TGFB1 SERTAD3 TMEM91 ENSG00000268366
GH19F040796 1.8 FANTOM5 Ensembl ENCODE 33.5 +85.4 85358 11.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SNRPA ENSG00000269843 ENSG00000205041 ENSG00000269069 FBL ITPKC CCDC97 COQ8B NUMBL ENSG00000268366
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000346640 320 5801 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF416 ZNF548 SP3 NFYC

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

Selected DME Specific Peptides for ITPKC Gene

Q96DU7:
  • EGNREDGYL
  • AKVWMIDFGKT
  • TLGFRIEGIKK

Post-translational modifications for ITPKC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ITPKC Gene

ENSEMBL proteins:
REFSEQ proteins:

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:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity IEA,TAS --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITPKC

Flow Cytometry 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
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 ITPKC gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ITPKC Gene

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

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:0016310 phosphorylation IEA --
GO:0043647 inositol phosphate metabolic process TAS --
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITPKC

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ITPKC Gene



Protein tissue co-expression partners for ITPKC Gene

NURSA nuclear receptor signaling pathways regulating expression of ITPKC Gene:

ITPKC

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

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
chimpanzee
(Pan troglodytes)
Mammalia ITPKC 34 35
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia ITPKC 34 35
  • 86.41 (n)
dog
(Canis familiaris)
Mammalia ITPKC 34 35
  • 86.21 (n)
mouse
(Mus musculus)
Mammalia Itpkc 34 16 35
  • 81.55 (n)
rat
(Rattus norvegicus)
Mammalia Itpkc 34
  • 81.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ITPKC 35
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITPKC 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPKC 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itpkc 34
  • 64.53 (n)
zebrafish
(Danio rerio)
Actinopterygii itpkca 35
  • 51 (a)
OneToMany
itpkcb 35
  • 38 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3890 34
fruit fly
(Drosophila melanogaster)
Insecta IP3K2 36 35
  • 53 (a)
IP3K1 36
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea lfe-2 36 35
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
Species where no ortholog for ITPKC 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)
  • 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
rs10411159 -- 40,740,371(+) TTTCT(C/T)CCAGC intron-variant, downstream-variant-500B, utr-variant-3-prime
rs10415193 -- 40,725,384(+) TCACC(A/C)TTTGT reference, synonymous-codon
rs10420651 -- 40,729,133(+) GCAAA(C/G)AGGCA intron-variant
rs10420685 -- 40,729,215(+) CAGGC(A/G)GGAGA reference, synonymous-codon
rs10425765 -- 40,723,086(+) cctcc(C/T)gagta intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1160619 CNV deletion 26073780
nsv1067017 CNV gain 25217958

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

Human Gene Mutation Database (HGMD)
ITPKC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITPKC

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

Disorders for ITPKC Gene

MalaCards: The human disease database

(3) 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
- 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 22 64
  2. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. (PMID: 22081228) Khor C.C. … . (Nat. Genet. 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children. (PMID: 20045869) Chi H. … Lee Y.J. (Hum. Mol. Genet. 2010) 3 46 64
  5. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. (PMID: 18084290) Onouchi Y. … Hata A. (Nat. Genet. 2008) 3 22 64

Products for ITPKC Gene

Sources for ITPKC Gene

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