InnateDB Protein
|
IDBP-52096.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
ITPKC
|
Protein Name
|
inositol-trisphosphate 3-kinase C
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000263370
|
InnateDB Gene
|
IDBG-52094 (ITPKC)
|
Protein Structure
|
|
Function |
Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate. {ECO:0000250}.
|
Subcellular Localization |
Nucleus {ECO:0000269PubMed:12747803}. Cytoplasm {ECO:0000269PubMed:12747803}. Note=Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity.
|
Disease Associations |
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:0000269PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Highly expressed in pancreas, skeletal muscle, liver, placenta and weakly in kidney and brain. {ECO:0000269PubMed:11085927}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
2
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
1 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR005522
Inositol polyphosphate kinase
|
PFAM |
PF03770
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q96DU7
|
PhosphoSite |
PhosphoSite-Q96DU7
|
TrEMBL |
A0A024R0N8
|
UniProt Splice Variant |
|
Entrez Gene |
80271
|
UniGene |
Hs.515415
|
RefSeq |
NP_079470
|
HUGO |
HGNC:14897
|
OMIM |
606476
|
CCDS |
CCDS12563
|
HPRD |
09400
|
IMGT |
|
EMBL |
AJ290975
BC060788
CH471126
D38169
Y11999
|
GenPept |
AAH60788
BAA22524
CAA72728
CAC40815
EAW56992
EAW56993
|
|
|