Gene Gene information from NCBI Gene database.
Entrez ID 80271
Gene name Inositol-trisphosphate 3-kinase C
Gene symbol ITPKC
Synonyms (NCBI Gene)
IP3-3KCIP3KC
Chromosome 19
Chromosome location 19q13.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
271
miRTarBase ID miRNA Experiments Reference
MIRT050413 hsa-miR-23a-3p CLASH 23622248
MIRT649623 hsa-miR-8485 HITS-CLIP 23824327
MIRT649622 hsa-miR-329-3p HITS-CLIP 23824327
MIRT649621 hsa-miR-362-3p HITS-CLIP 23824327
MIRT649620 hsa-miR-500b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000828 Function Inositol hexakisphosphate kinase activity IBA
GO:0005516 Function Calmodulin binding IEA
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606476 14897 ENSG00000086544
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DU7
Protein name Inositol-trisphosphate 3-kinase C (EC 2.7.1.127) (Inositol 1,4,5-trisphosphate 3-kinase C) (IP3 3-kinase C) (IP3K C) (InsP 3-kinase C)
Protein function Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis (PubMed:11085927, PubMed:12747803). Can phosphorylate inositol
PDB 2A98
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03770 IPK 467 678 Inositol polyphosphate kinase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas, skeletal muscle, liver, placenta and weakly in kidney and brain. {ECO:0000269|PubMed:11085927}.
Sequence
MRRCPCRGSLNEAEAGALPAAARMGLEAPRGGRRRQPGQQRPGPGAGAPAGRPEGGGPWA
RTEGSSLHSEPERAGLGPAPGTESPQAEFWTDGQTEPAAAGLGVETERPKQKTEPDRSSL
RTHLEWSWSELETTCLWTETGTDGLWTDPHRSDLQFQPEEASPWTQPGVHGPWTELETHG
SQTQPERVKSWADNLWTHQNSSSLQTHPEGACPSKEPSADGSWKELYTDGSRTQQDIEGP
WTEPYTDGSQKKQDTEAARKQPGTGGFQIQQDTDGSWTQPSTDGSQTAPGTDCLLGEPED
GPLEEPEPGELLTHLYSHLKCSPLCPVPRLIITPETPEPEAQPVGPPSRVEGGSGGFSSA
SSFDESEDDVVAGGGGASDPEDRSGSKPWKKLKTVLKYSPFVVSFRKHYPWVQLSGHAGN
FQAGEDGRILKRFCQCEQRSLEQLMKDPLRPFVPAYYGMVLQDGQTFNQMEDLLADFEGP
SIMDCKMGSRTYLEEELVKARERPRPRKDMYEKMVAVDPGAPTPEEHAQGAVTKPRYMQW
RETMSSTSTLGFRIEGIKKADGTCNTNFKKTQALEQVTKVLEDFVDGDHVILQKYVACLE
ELREALEISPFFKTHEVVGSSLLFVHDHTGLAKVWMIDFGKTVALPDHQTLSHRLPWAEG
NREDGYLWGLDNMICLLQ
GLAQS
Sequence length 683
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Calcium signaling pathway
Phosphatidylinositol signaling system
  Synthesis of IP3 and IP4 in the cytosol
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ITPKC-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign rs28493229, rs774810575, rs747306506, rs200330367, rs145479132, rs778372145, rs202231780, rs182643309, rs149591476, rs778568321 RCV003974794
RCV003394342
RCV003921589
RCV003961750
RCV003917206
RCV003951555
RCV003954723
RCV003983621
RCV003969212
RCV003966980
Reclassified - variant of unknown significance Conflicting classifications of pathogenicity rs28493229 RCV004558236
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Metabolic Associate 30355649
Carcinoma Squamous Cell Associate 22610085
Coronary Aneurysm Associate 18084290, 37404818
Coronary Artery Disease Associate 18084290, 23894522, 24621571, 29214786
Erythema Associate 29214786
Kidney Diseases Associate 24800221
Mucocutaneous Lymph Node Syndrome Associate 18084290, 21533171, 23747857, 23894522, 24621571, 29214786, 33772158, 37404818
Neointima Associate 21533171, 24621571
Nephrolithiasis Calcium Oxalate Associate 24800221
Thrombosis Associate 37404818