TNNI3K

TNNI3K
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTNNI3K, CARK, CCDD, TNNI3 interacting kinase
External IDsMGI: 2443276 HomoloGene: 41084 GeneCards: TNNI3K
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p31.1Start74,235,401 bp[1]
End74,544,428 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

51086

435766

Ensembl

ENSG00000116783

ENSMUSG00000040086

UniProt

Q59H18

Q5GIG6

RefSeq (mRNA)

NM_015978

NM_001012364
NM_177066

RefSeq (protein)

NP_001106279
NP_001186256

NP_796040

Location (UCSC)Chr 1: 74.24 – 74.54 MbChr 3: 154.79 – 155.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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 cardiomyopathies .[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000116783 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040086 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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.

Further reading

  • 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.
  • 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.


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