TNNI3K

TNNI3K
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4YFI, 4YFF
Identifiers
Aliases	TNNI3K, CARK, CCDD, TNNI3 interacting kinase
External IDs	OMIM: 613932; MGI: 2443276; HomoloGene: 41084; GeneCards: TNNI3K; OMA:TNNI3K - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	74,544,428 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	154,761,044 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; left ventricle; ; right auricle; ; gonad; ; cerebellar hemisphere; ; right hemisphere of cerebellum; ; testicle; ; primary visual cortex; ; Brodmann area 9; ; right frontal lobe;
	Top expressed in
	myocardium of ventricle; ; atrium; ; lumbar spinal ganglion; ; atrioventricular valve; ; endocardial cushion; ; left ventricle; ; olfactory epithelium; ; semi-lunar valve; ; aortic valve; ; esophagus;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; protein kinase activity; protein serine/threonine kinase activity; nucleotide binding; protein C-terminus binding; protein binding; troponin I binding; ATP binding; metal ion binding; kinase activity; signal transducer activity;
Cellular component	cytoplasm; nucleus;
Biological process	protein phosphorylation; regulation of cardiac muscle contraction; regulation of cardiac conduction; bundle of His cell to Purkinje myocyte communication; phosphorylation; regulation of heart rate; intracellular signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	51086
	435766
	ENSG00000116783
	ENSMUSG00000040086
	Q59H18
	Q5GIG6
	NM_015978
	NM_001012364; NM_177066
	NP_001106279; NP_001186256; NP_057062
	NP_796040
	Wikidata
View/Edit Human	View/Edit Mouse

TNNI3 interacting kinase is a protein that in humans is encoded by the TNNI3K gene.^[5]

Function

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.^[5]

Clinical significance

Mutations in TNNI3K are associated to Template:SWL.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000116783 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040086 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: TNNI3 interacting kinase".
^ Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM (Nov 2014). "TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy". Human Molecular Genetics. 23 (21): 5793–804. doi:10.1093/hmg/ddu297. PMC 4189907. PMID 24925317.

Yang SW, Hitz MP, Andelfinger G (Oct 2010). "Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier". Cardiology in the Young. 20 (5): 574–6. doi:10.1017/S1047951110000715. PMID 20569525.
Wang L, Wang H, Ye J, Xu RX, Song L, Shi N, Zhang YW, Chen X, Meng XM (Apr 2011). "Adenovirus-mediated overexpression of cardiac troponin I-interacting kinase promotes cardiomyocyte hypertrophy". Clinical and Experimental Pharmacology & Physiology. 38 (4): 278–84. doi:10.1111/j.1440-1681.2011.05499.x. PMID 21314842.
Wei YJ, Cui CJ, Huang YX, Zhang XL, Zhang H, Hu SS (Jun 2009). "Upregulated expression of cardiac ankyrin repeat protein in human failing hearts due to arrhythmogenic right ventricular cardiomyopathy". European Journal of Heart Failure. 11 (6): 559–66. doi:10.1093/eurjhf/hfp049. PMID 19359327.
Chen X, Li X, Wang P, Liu Y, Zhang Z, Zhao G, Xu H, Zhu J, Qin X, Chen S, Hu L, Kong X (2010). "Novel association strategy with copy number variation for identifying new risk Loci of human diseases". PLOS ONE. 5 (8): e12185. doi:10.1371/journal.pone.0012185. PMC 2924882. PMID 20808825.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Tang H, Xiao K, Mao L, Rockman HA, Marchuk DA (Jan 2013). "Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction". Journal of Molecular and Cellular Cardiology. 54: 101–11. doi:10.1016/j.yjmcc.2012.10.004. PMC 3535516. PMID 23085512.
Lai ZF, Chen YZ, Feng LP, Meng XM, Ding JF, Wang LY, Ye J, Li P, Cheng XS, Kitamoto Y, Monzen K, Komuro I, Sakaguchi N, Kim-Mitsuyama S (Aug 2008). "Overexpression of TNNI3K, a cardiac-specific MAP kinase, promotes P19CL6-derived cardiac myogenesis and prevents myocardial infarction-induced injury". American Journal of Physiology. Heart and Circulatory Physiology. 295 (2): H708-16. doi:10.1152/ajpheart.00252.2008. PMID 18552163.
Feng Y, Cao HQ, Liu Z, Ding JF, Meng XM (Jun 2007). "Identification of the dual specificity and the functional domains of the cardiac-specific protein kinase TNNI3K". General Physiology and Biophysics. 26 (2): 104–9. PMID 17660584.
Feng Y, Liu DQ, Wang Z, Liu Z, Cao HQ, Wang LY, Shi N, Meng XM (Nov 2007). "AOP-1 interacts with cardiac-specific protein kinase TNNI3K and down-regulates its kinase activity". Biochemistry. Biokhimii︠a︡. 72 (11): 1199–204. doi:10.1134/s0006297907110053. PMID 18205602.
Cousminer DL, Berry DJ, Timpson NJ, Ang W, Thiering E, Byrne EM, et al. (Jul 2013). "Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity". Human Molecular Genetics. 22 (13): 2735–47. doi:10.1093/hmg/ddt104. PMC 3674797. PMID 23449627.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116783 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040086 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: TNNI3 interacting kinase".

[6] Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM (Nov 2014). "TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy". Human Molecular Genetics. 23 (21): 5793–804. doi:10.1093/hmg/ddu297. PMC 4189907. PMID 24925317.

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Function

Clinical significance

References

Further reading