Troponina T tipo 1
(Redirección desde «TNNT1»)
Troponina T tipo 1 (músculo esquelético 1, lenta)
| |
| Identificadores | |
| Símbolo | TNNT1 |
| Símbolos alt. | ANM, STNT, TNT, TNTS, FLJ98147, MGC104241 |
| Entrez | 7138 |
| HUGO | 11948 |
| OMIM | |
| RefSeq | NM_003283 |
| UniProt | P13805 |
| Outros datos | |
| Locus | Cr. 19 q13.4 |
A troponina T, músculo esquelético lenta ou troponina T tipo 1 (TNNT1) é unha proteína que se encontra nos miofilamentos finos das fibras musculares, que nos humanos está codificada no xene TNNT1 do cromosoma 19.[1][2] É unha das tres isoformas da troponina T; as outras dúas son TNNT2 e TNNT3. Esta isoforma exprésase no músculo esquelético de contracción lenta. A troponina T únese á tropomiosina situándoa sobre os filamentos de actina do sarcómero muscular tapando os sitios da actina para a unión coa miosina, o que impide a contracción muscular. A troponina é un complexo proteico que regula a contracción muscular formado por tres subunidades, que son as troponinas T, C e I.
As mutacións no xene TNNT1 causan a miopatía nemalínica tipo 5, un trastorno muscular que afecta aos nenos e adoita orixinar a morte por insuficiencia respiratoria no segundo ano.[2]
Interaccións
[editar | editar a fonte]A TNNT1 interacciona coa tropomiosina, a troponina C e coa proteína quinase PRKG1.[3]
Notas
[editar | editar a fonte]- ↑ Samson F, de Jong PJ, Trask BJ, Koza-Taylor P, Speer MC, Potter T, Roses AD, Gilbert JR (Sep 1992). "Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis". Genomics 13 (4): 1374–5. PMID 1505979. doi:10.1016/0888-7543(92)90077-6.
- ↑ 2,0 2,1 "Entrez Gene: TNNT1 troponin T type 1 (skeletal, slow)".
- ↑ Yuasa, K; Michibata H; Omori K; Yanaka N (Dec 1999). "A novel interaction of cGMP-dependent protein kinase I with troponin T". J. Biol. Chem. (UNITED STATES) 274 (52): 37429–34. ISSN 0021-9258. PMID 10601315. doi:10.1074/jbc.274.52.37429.
Véxase tamén
[editar | editar a fonte]Ligazóns externas
[editar | editar a fonte]Bibliografía
[editar | editar a fonte]- Nadal-Ginard B, Mahdavi V (1990). "Molecular basis of cardiac performance. Plasticity of the myocardium generated through protein isoform switches". J. Clin. Invest. 84 (6): 1693–700. PMC 304044. PMID 2687327. doi:10.1172/JCI114351.
- Wu AH, Ford L (1999). "Release of cardiac troponin in acute coronary syndromes: ischemia or necrosis?". Clin. Chim. Acta 284 (2): 161–74. PMID 10451243. doi:10.1016/S0009-8981(99)00078-9.
- Novelli G, Gennarelli M, Zelano G; et al. (1993). "Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle". Cell Biochem. Funct. 10 (4): 251–6. PMID 1473264. doi:10.1002/cbf.290100407.
- Gahlmann R, Troutt AB, Wade RP; et al. (1987). "Alternative splicing generates variants in important functional domains of human slow skeletal troponin T". J. Biol. Chem. 262 (33): 16122–6. PMID 2824479.
- Heeley DH, Golosinska K, Smillie LB (1987). "The effects of troponin T fragments T1 and T2 on the binding of nonpolymerizable tropomyosin to F-actin in the presence and absence of troponin I and troponin C". J. Biol. Chem. 262 (21): 9971–8. PMID 3611073.
- Pearlstone JR, Smillie LB (1983). "Effects of troponin-I plus-C on the binding of troponin-T and its fragments to alpha-tropomyosin. Ca2+ sensitivity and cooperativity". J. Biol. Chem. 258 (4): 2534–42. PMID 6822572.
- Samson F, Mesnard L, Mihovilovic M; et al. (1994). "A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene". Biochem. Biophys. Res. Commun. 199 (2): 841–7. PMID 8135831. doi:10.1006/bbrc.1994.1305.
- Novelli G, Gennarelli M, Sangiuolo F; et al. (1993). "Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene". Cell Biochem. Funct. 11 (3): 187–91. PMID 8403232. doi:10.1002/cbf.290110306.
- Jha PK, Leavis PC, Sarkar S (1997). "Interaction of deletion mutants of troponins I and T: COOH-terminal truncation of troponin T abolishes troponin I binding and reduces Ca2+ sensitivity of the reconstituted regulatory system". Biochemistry 35 (51): 16573–80. PMID 8987992. doi:10.1021/bi9622433.
- Stefancsik R, Jha PK, Sarkar S (1998). "Identification and mutagenesis of a highly conserved domain in troponin T responsible for troponin I binding: Potential role for coiled coil interaction". Proc. Natl. Acad. Sci. U.S.A. 95 (3): 957–62. PMC 18637. PMID 9448267. doi:10.1073/pnas.95.3.957.
- Jha PK, Sarkar S (1998). "A recombinant monocysteine mutant (Ser to Cys-155) of fast skeletal troponin T: identification by cross-linking of a domain involved in a physiologically relevant interaction with troponins C and I". Biochemistry 37 (35): 12253–60. PMID 9724539. doi:10.1021/bi980025z.
- Barton PJ, Cullen ME, Townsend PJ; et al. (1999). "Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T". Genomics 57 (1): 102–9. PMID 10191089. doi:10.1006/geno.1998.5702.
- Mukherjea P, Tong L, Seidman JG; et al. (1999). "Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants". Biochemistry 38 (40): 13296–301. PMID 10529204. doi:10.1021/bi9906120.
- Yuasa K, Michibata H, Omori K, Yanaka N (2000). "A novel interaction of cGMP-dependent protein kinase I with troponin T". J. Biol. Chem. 274 (52): 37429–34. PMID 10601315. doi:10.1074/jbc.274.52.37429.
- Johnston JJ, Kelley RI, Crawford TO; et al. (2000). "A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1". Am. J. Hum. Genet. 67 (4): 814–21. PMC 1287886. PMID 10952871. doi:10.1086/303089.
- Schmidtmann A, Lohmann K, Jaquet K (2002). "The interaction of the bisphosphorylated N-terminal arm of cardiac troponin I-A 31P-NMR study". FEBS Lett. 513 (2–3): 289–93. PMID 11904166. doi:10.1016/S0014-5793(02)02340-2.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899.