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

Gene ID: 80271, updated on 16-May-2020

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
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

Genomic context

See ITPKC in Genome Data Viewer
Location:
19q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40717112..40740860)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41222885..41246765)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NUMB like endocytic adaptor protein Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene chromosome 19 open reading frame 54 Neighboring gene small nuclear ribonucleoprotein polypeptide A Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene MIA SH3 domain containing

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
inositol tetrakisphosphate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol-1,4,5-trisphosphate 3-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol-1,4,5-trisphosphate 3-kinase activity IEA
Inferred from Electronic Annotation
more info
 
kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
inositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_079470.1
XP_016882813.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012970.1 RefSeqGene

    Range
    5010..28758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025194.3NP_079470.1  inositol-trisphosphate 3-kinase C

    See identical proteins and their annotated locations for NP_079470.1

    Status: REVIEWED

    Source sequence(s)
    BC060788
    Consensus CDS
    CCDS12563.1
    UniProtKB/Swiss-Prot
    Q96DU7
    UniProtKB/TrEMBL
    A0A024R0N8
    Related
    ENSP00000263370.1, ENST00000263370.3
    Conserved Domains (1) summary
    pfam03770
    Location:467678
    IPK; Inositol polyphosphate kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    40717112..40740860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027324.2XP_016882813.1  inositol-trisphosphate 3-kinase C isoform X1

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