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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]
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 Inositol phosphate metabolism (KEGG) and Calcium signaling 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000828 | inositol hexakisphosphate kinase activity | IBA | 21873635 |
GO:0005516 | calmodulin binding | IEA | -- |
GO:0005524 | ATP binding | IEA | -- |
GO:0008440 | inositol-1,4,5-trisphosphate 3-kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0016607 | nuclear speck | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Inositol phosphate metabolism (KEGG) | ||
2 | Metabolism |
.40
|
|
3 | Inositol phosphate metabolism (REACTOME) | ||
4 | Calcium signaling pathway | ||
5 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016310 | phosphorylation | IEA | -- |
GO:0032958 | inositol phosphate biosynthetic process | IEA,IBA | 21873635 |
GO:0043647 | inositol phosphate metabolic process | TAS | -- |
GO:0046854 | phosphatidylinositol phosphorylation | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
Inositol 1,3,4,5-tetraphosphate |
|
102850-29-3 |
|
|||
Inositol 1,4,5-trisphosphate |
|
88269-39-0 |
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ITPKC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ITPKC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ITPKC 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Itpkc 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Itpkc 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ITPKC 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ITPKC 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ITPKC 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | itpkc 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | itpkca 31 |
|
OneToMany | |
itpkcb 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3890 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | IP3K1 32 |
|
|
|
IP3K2 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | lfe-2 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1067017 | CNV | gain | 25217958 |
nsv1160619 | CNV | deletion | 26073780 |
Disorder | Aliases | PubMed IDs |
---|---|---|
kawasaki disease |
|
|
coronary aneurysm |
|
|
heart aneurysm |
|
|
bacterial conjunctivitis |
|
|
hydrops of gallbladder |
|
|