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TNNI3K TNNI3 interacting kinase [ Homo sapiens (human) ]

Gene ID: 51086, updated on 5-Sep-2021

Summary

Official Symbol
TNNI3Kprovided by HGNC
Official Full Name
TNNI3 interacting kinaseprovided by HGNC
Primary source
HGNC:HGNC:19661
See related
Ensembl:ENSG00000116783 MIM:613932
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
CARK; CCDD
Summary
This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]
Expression
Biased expression in heart (RPKM 19.3), testis (RPKM 1.3) and 1 other tissue See more
Orthologs
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Genomic context

See TNNI3K in Genome Data Viewer
Location:
1p31.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (74235387..74544428)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (74701071..75010112)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeats and IQ motif containing 3 Neighboring gene FPGT-TNNI3K readthrough Neighboring gene fucose-1-phosphate guanylyltransferase Neighboring gene uncharacterized LOC105378805 Neighboring gene leucine rich repeat containing 53 Neighboring gene ERICH3 antisense RNA 1 Neighboring gene glutamate rich 3 Neighboring gene crystallin zeta

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

Associated conditions

Description Tests
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
GeneReviews: Not available
Cardiac conduction disease with or without dilated cardiomyopathy
MedGen: C4015285 OMIM: 616117 GeneReviews: Not available
Compare labs
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
GeneReviews: Not available
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough FPGT-TNNI3K

Readthrough gene: FPGT-TNNI3K, Included gene: FPGT

Homology

Clone Names

  • MGC33828, MGC142099

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables troponin I binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein kinase TNNI3K
Names
cardiac ankyrin repeat kinase
cardiac troponin I-interacting kinase
NP_057062.1

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.

Genomic

  1. NG_032939.2 RefSeqGene

    Range
    42135..351176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_678

mRNA and Protein(s)

  1. NM_015978.3NP_057062.1  serine/threonine-protein kinase TNNI3K

    See identical proteins and their annotated locations for NP_057062.1

    Status: REVIEWED

    Source sequence(s)
    AA758546, BC113539, BX502807
    Consensus CDS
    CCDS664.1
    UniProtKB/Swiss-Prot
    Q59H18
    Related
    ENSP00000322251.3, ENST00000326637.8
    Conserved Domains (3) summary
    cd00204
    Location:99220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14064
    Location:469722
    PKc_TNNI3K; Catalytic domain of the Dual-specificity protein kinase, TNNI3-interacting kinase
    sd00045
    Location:134164
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    74235387..74544428
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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