TNNI3K TNNI3 interacting kinase [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:19661
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: mouse all
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Genomic context

Location:: 1p31.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (74235387..74544428)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (74076908..74385812)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (74701071..75010112)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.
Title: Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.
A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.
Title: A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.
A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.
Title: A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.
Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.
Title: Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.
New Insights into 4-Anilinoquinazolines as Inhibitors of Cardiac Troponin I-Interacting Kinase (TNNi3K).
Title: New Insights into 4-Anilinoquinazolines as Inhibitors of Cardiac Troponin I-Interacting Kinase (TNNi3K).
A heterozygous p.Thr539Ala mutation in TNNI3K, a cardiac-specific kinase, is the likely cause for a novel familial cardiac conduction disease (FCCD)
Title: Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.
we show that several common human TNNI3K kinase domain variants substantially compromise kinase activity, suggesting that TNNI3K may influence human heart regenerative capacity and potentially also other aspects of human heart disease.
Title: Tnni3k alleles influence ventricular mononuclear diploid cardiomyocyte frequency.
Results showed that TNNI3K was highly in cholangiocarcinoma (CCA) patients. Furthermore, TNNI3K-knockdown decreased the growth of CCA cell lines.
Title: Over-expression of TNNI3K is associated with early-stage carcinogenesis of cholangiocarcinoma.
results suggest that ACE2, TNNI3K and CALM3 polymorphisms are associated with increased risk of hypertrophic cardiomyopathies and dilated cardiomyopathies and may act as disease modifiers of these diseases.
Title: ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies.
A splice site mutation of TNNI3 Interacting Kinase (TNNI3K) was identified and co-segregated with the dilated cardiomyopathy (DCM) and cardiac conduction disease (CCD) affected family members.
Title: Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Atrial conduction disease MedGen: C4015285 OMIM: 616117 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 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-82732 (e-PCR)
- UniSTS:95751

D1S1962E (e-PCR)
- UniSTS:151306

AL033647 (e-PCR)
- UniSTS:93482

SHGC-84880 (e-PCR)
- UniSTS:104776

AL009884 (e-PCR)
- UniSTS:60750

A005C44 (e-PCR)
- UniSTS:92

AL009456 (e-PCR)
- UniSTS:12389

AL009475 (e-PCR)
- UniSTS:1649

SGC38103 (e-PCR)
- UniSTS:2192

RH92878 (e-PCR)
- UniSTS:86185

RH12316 (e-PCR)
- UniSTS:62637

RH102630 (e-PCR)
- UniSTS:96964

G65707 (e-PCR)
- UniSTS:225502

D1S3377 (e-PCR)
- UniSTS:79341

SHGC-31192 (e-PCR)
- UniSTS:31221

Readthrough FPGT-TNNI3K

Readthrough gene: FPGT-TNNI3K, Included gene: FPGT

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
involved_in bundle of His cell to Purkinje myocyte communication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac conduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of heart rate	IMP Inferred from Mutant Phenotype 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

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Preferred Names: serine/threonine-protein kinase TNNI3K

Names: cardiac ankyrin repeat kinase; cardiac troponin I-interacting kinase

NP_057062.1

EC 2.7.11.1

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

NG_032939.2 RefSeqGene

Range

42135..351176

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_678

mRNA and Protein(s)

NM_015978.3 → NP_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

Q17RN0, Q49AR1, Q59H18, Q6MZS9, Q9Y2V6

UniProtKB/TrEMBL

V9GXZ4

Related

ENSP00000322251.3, ENST00000326637.8

Conserved Domains (3) summary

cd00204
Location:99 → 220

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:469 → 722

PKc_TNNI3K; Catalytic domain of the Dual-specificity protein kinase, TNNI3-interacting kinase

sd00045
Location:134 → 164

ANK; ANK repeat [structural motif]