TNNI3K
| TNNI3 interacting kinase | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | TNNI3K ; CARK; CCDD | ||||||||||||
| External IDs | OMIM: 613932 HomoloGene: 41084 GeneCards: TNNI3K Gene | ||||||||||||
| EC number | 2.7.11.1 | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 51086 | 435766 | |||||||||||
| Ensembl | ENSG00000116783 | ENSMUSG00000040086 | |||||||||||
| UniProt | Q59H18 | Q5GIG6 | |||||||||||
| RefSeq (mRNA) | NM_015978 | NM_001012364 | |||||||||||
| RefSeq (protein) | NP_057062 | NP_796040 | |||||||||||
| Location (UCSC) |
Chr 1: 74.24 – 74.54 Mb |
Chr 3: 154.79 – 155.06 Mb | |||||||||||
| PubMed search | |||||||||||||
TNNI3 interacting kinase is a protein that in humans is encoded by the TNNI3K gene.[1]
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.[1]
Clinical significance
Mutations in TNNI3K are associated to cardiomyopathies .[2]
References
- 1 2 "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.
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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