ITPKC inositol-trisphosphate 3-kinase C [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITPKCprovided by HGNC
Official Full Name: inositol-trisphosphate 3-kinase Cprovided by HGNC
Primary source: HGNC:HGNC:14897
See related: Ensembl:ENSG00000086544 MIM:606476; AllianceGenome:HGNC:14897
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IP3KC; IP3-3KC
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 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]
Expression: Ubiquitous expression in esophagus (RPKM 36.2), gall bladder (RPKM 17.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (40717112..40740860)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43537804..43561551)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41223017..41246765)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ITPKC polymorphism (rs7251246 T > C), coronary artery aneurysms, and thrombosis in patients with Kawasaki disease in a Southern Han Chinese population.
Title: ITPKC polymorphism (rs7251246 T > C), coronary artery aneurysms, and thrombosis in patients with Kawasaki disease in a Southern Han Chinese population.
Inositol-Triphosphate 3-Kinase C and DNA Methylation Involvement in NLRP3 Inflammasome Activation in Kawasaki Disease.
Title: Inositol-Triphosphate 3-Kinase C and DNA Methylation Involvement in NLRP3 Inflammasome Activation in Kawasaki Disease.
Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease.
Title: Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease.
Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer.
Title: Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer.
Our findings suggest that ITPKC is a susceptibility gene for bone mineral density (BMD), and rs2607420 may play an important role in the regulation of this gene
Title: Integrative genomic analysis for the functional roles of ITPKC in bone mineral density.
This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans.
Title: ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease.
Genetic variants of ITPKC may have a potential association with HSCR (Hirschsprung disease) susceptibility and/or developmental diseases related to enteric nervous system development.
Title: Potential association between ITPKC genetic variations and Hirschsprung disease.
this study shows that the KD-associated genetic polymorphism in inositol-triphosphate 3-kinase C (ITPKC) (rs28493229) has important functional consequences, governing ITPKC protein levels and thereby intracellular calcium, which in turn regulates NLRP3 expression and production of IL-1beta and IL-18.
Title: Inositol-Triphosphate 3-Kinase C Mediates Inflammasome Activation and Treatment Response in Kawasaki Disease.
ITPKC polymorphisms are associated with Kawasaki disease.
Title: The roles of Ca2+/NFAT signaling genes in Kawasaki disease: single- and multiple-risk genetic variants.
SNP rs7251246 in ITPKC is associated with the severity of Kawasaki disease
Title: Single-nucleotide polymorphism rs7251246 in ITPKC is associated with susceptibility and coronary artery lesions in Kawasaki disease.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31377 (e-PCR)
- UniSTS:63774

D19S387E (e-PCR)
- UniSTS:473042

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables inositol tetrakisphosphate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-1,4,5-trisphosphate 3-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-1,4,5-trisphosphate 3-kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in inositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol phosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: inositol-trisphosphate 3-kinase C

Names: IP3 3-kinase C; IP3K C; InsP 3 kinase C; inositol 1,4,5-trisphosphate 3-kinase C; insP 3-kinase C

NP_001398027.1

EC 2.7.1.127

NP_079470.1

EC 2.7.1.127

XP_047295422.1

EC 2.7.1.127

XP_047295424.1

EC 2.7.1.127

XP_047295425.1

EC 2.7.1.127

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.