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 associate... See more...

Aliases for ITPKC Gene

Aliases for ITPKC Gene

  • Inositol-Trisphosphate 3-Kinase C 2 3 4 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 52
  • 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 Coronary Aneurysm. Among its related pathways are superpathway of inositol phosphate compounds and Integrated Breast Cancer Pathway. Gene Ontology (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 Summary for ITPKC Gene

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

Additional gene information for ITPKC Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITPKC Gene

Genomics for ITPKC Gene

GeneHancer (GH) Regulatory Elements for ITPKC Gene

Promoters and enhancers for ITPKC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITPKC on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITPKC

Top Transcription factor binding sites by QIAGEN in the ITPKC gene promoter:
  • c-Myb
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Lmo2
  • NF-1
  • SRF

Genomic Locations for ITPKC Gene

Genomic Locations for ITPKC Gene
chr19:40,716,980-40,740,860
(GRCh38/hg38)
Size:
23,881 bases
Orientation:
Plus strand
chr19:41,223,008-41,246,765
(GRCh37/hg19)
Size:
23,758 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

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ITPKC Gene

Blocks:
  • Inositol polyphosphate kinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ITPKC Gene

GenScript: Design optimal peptide antigens:
  • Inositol 1,4,5-trisphosphate 3-kinase C (IP3KC_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,4,5-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + H(+); Xref=Rhea:RHEA:11020, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57895, ChEBI:CHEBI:203600, ChEBI:CHEBI:456216; EC=2.7.1.127;.
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.
GENATLAS Biochemistry:
inositol,1,4,5-triphosphate 3 kinase-C

Enzyme Numbers (IUBMB) for ITPKC Gene

Phenotypes From GWAS Catalog 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 --
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:

Clone Products

  • Addgene plasmids for ITPKC

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 4
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITPKC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016607 nuclear speck IDA --
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

Gene Ontology (GO) - Biological Process for ITPKC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016310 phosphorylation IEA --
GO:0032958 inositol phosphate biosynthetic process 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
Calcium Approved Nutra 7884
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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
  • 1,4,5-Insp3
  • D-myo-Inositol 1,4,5-trisphosphate
  • D-myo-INOSITOL-1,4,5-triphosphATE
  • Ins(1,4,5)P3
  • InsP3
88269-39-0
genes like me logo Genes that share compounds with ITPKC: view

Transcripts for ITPKC Gene

mRNA/cDNA for ITPKC Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for ITPKC

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

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, MaxQB, and MOPED for ITPKC Gene



Protein tissue co-expression partners for ITPKC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ITPKC Gene

  • Liver(4.1)
  • Thyroid gland(4.1)
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 and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ITPKC 31 30
  • 86.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ITPKC 31 30
  • 86.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Itpkc 17 31 30
  • 81.55 (n)
rat
(Rattus norvegicus)
Mammalia Itpkc 30
  • 81.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ITPKC 31
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITPKC 31
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPKC 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itpkc 30
  • 64.53 (n)
zebrafish
(Danio rerio)
Actinopterygii itpkca 31
  • 51 (a)
OneToMany
itpkcb 31
  • 38 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3890 30
fruit fly
(Drosophila melanogaster)
Insecta IP3K1 32
  • 40 (a)
IP3K2 31 32
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lfe-2 31 32
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ITPKC: view image

Paralogs for ITPKC Gene

Paralogs for ITPKC Gene

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

  • IP3KC_HUMAN
  • M0R2L7_HUMAN
genes like me logo Genes that share paralogs with ITPKC: view

Variants for ITPKC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITPKC Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs28493229 Risk Factor: Kawasaki disease, susceptibility to 40,718,299(+) G/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ITPKC Gene

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

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

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)

Additional Variant Information for ITPKC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ITPKC Gene

MalaCards: The human disease database

(11) MalaCards diseases for ITPKC Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kawasaki disease
  • kd
coronary aneurysm
  • aneurysm of coronary vessels
heart aneurysm
  • cardiac aneurysm
bacterial conjunctivitis
  • purulent conjunctivitis
hydrops of gallbladder
- elite association