TNNI3K
| TNNI3 interacting kinase | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | TNNI3K ; CARK | ||||||||||||
| External IDs | OMIM: 613932 HomoloGene: 41084 IUPHAR: 2247 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: 74.66 – 75.01 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. [provided by RefSeq, Sep 2012].
Clinical significance
Mutations in TNNI3K are associated to cardiomyopathies .[2]
References
- ↑ "Entrez Gene: TNNI3 interacting kinase". Retrieved 2014-06-16.
- ↑ Theis, J. L.; Zimmermann, M. T.; Larsen, B. T.; Rybakova, I. N.; Long, P. A.; Evans, J. M.; Middha, S; De Andrade, M; Moss, R. L.; Wieben, E. D.; Michels, V. V.; Olson, T. M. (2014). "TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy". Human Molecular Genetics 23: 5793–804. doi:10.1093/hmg/ddu297. PMID 24925317.
Further reading
- Yang, S. W.; Hitz, M. P.; Andelfinger, G (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, R. X.; Song, L; Shi, N; Zhang, Y. W.; Chen, X; Meng, X. M. (2011). "Adenovirus-mediated overexpression of cardiac troponin I-interacting kinase promotes cardiomyocyte hypertrophy". Clinical and Experimental Pharmacology and Physiology 38 (4): 278–84. doi:10.1111/j.1440-1681.2011.05499.x. PMID 21314842.
- Wei, Y. J.; Cui, C. J.; Huang, Y. X.; Zhang, X. L.; Zhang, H; Hu, S. S. (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, H. A.; Marchuk, D. A. (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, Z. F.; Chen, Y. Z.; Feng, L. P.; Meng, X. M.; Ding, J. F.; Wang, L. Y.; Ye, J; Li, P; Cheng, X. S.; Kitamoto, Y; Monzen, K; Komuro, I; Sakaguchi, N; Kim-Mitsuyama, S (2008). "Overexpression of TNNI3K, a cardiac-specific MAP kinase, promotes P19CL6-derived cardiac myogenesis and prevents myocardial infarction-induced injury". AJP: Heart and Circulatory Physiology 295 (2): H708–16. doi:10.1152/ajpheart.00252.2008. PMID 18552163.
- Feng, Y; Cao, H. Q.; Liu, Z; Ding, J. F.; Meng, X. M. (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, D. Q.; Wang, Z; Liu, Z; Cao, H. Q.; Wang, L. Y.; Shi, N; Meng, X. M. (2007). "AOP-1 interacts with cardiac-specific protein kinase TNNI3K and down-regulates its kinase activity". Biochemistry. Biokhimiia 72 (11): 1199–204. PMID 18205602.
- Cousminer, D. L.; Berry, D. J.; Timpson, N. J.; Ang, W; Thiering, E; Byrne, E. M.; Taal, H. R.; Huikari, V; Bradfield, J. P.; Kerkhof, M; Groen-Blokhuis, M. M.; Kreiner-Møller, E; Marinelli, M; Holst, C; Leinonen, J. T.; Perry, J. R.; Surakka, I; Pietiläinen, O; Kettunen, J; Anttila, V; Kaakinen, M; Sovio, U; Pouta, A; Das, S; Lagou, V; Power, C; Prokopenko, I; Evans, D. M.; Kemp, J. P. et al. (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.