Troponina T tipo 3
Troponina T tipo 3 (músculo esquelético, rápida)
| |
| Identificadores | |
| Símbolo | TNNT3 |
| Símbolos alt. | AMCD2B, DA2B, FSSV, DKFZp779M2348 |
| Entrez | 7140 |
| HUGO | 11950 |
| OMIM | |
| RefSeq | NM_006757 |
| UniProt | O14520 |
| Outros datos | |
| Locus | Cr. 11 p15.5 |
A troponina T, músculo esquelético rápida ou troponina T tipo 3 (TNNT3) é unha proteína situada nos miofilamentos finos das fibras musculares estriadas esqueléticas, que nos humanos está codificada no xene TNNT3 do cromosoma 11.[1][2] É unha das tres isoformas da troponina T; as outras dúas son TNNT1 e TNNT2. Esta isoforma exprésase no músculo esquelético de contracción rápida. 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.
O xene TNNT3 ten unha lonxitude de 19 kb e contén 19 exóns, entre eles hai 2 que son específicos da TNNT3 fetal ou neonatal (isoforma beta), que non se expresan no adulto (que expresa a isoforma alfa, que se diferencia en 14 aminoácidos do extremo C-terminal). O splicing alternativo deste xene pode orixinar varios transcritos distintos para esta proteína. As mutacións neste xene poden orixinar artrogripose distal múltiple conxénita tipo 2B (AD2B).[3]
Notas editar
- ↑ Wu QL, Jha PK, Raychowdhury MK, Du Y, Leavis PC, Sarkar S (Jun 1994). "Isolation and characterization of human fast skeletal beta troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family". DNA Cell Biol 13 (3): 217–33. PMID 8172653. doi:10.1089/dna.1994.13.217.
- ↑ "Entrez Gene: TNNT3 troponin T type 3 (skeletal, fast)".
- ↑ OMIM TROPONIN T3, FAST SKELETAL; TNNT3
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Outras lectruras editar
- Chong PC, Hodges RS (1982). "Photochemical cross-linking between rabbit skeletal troponin subunits. Troponin I-troponin T interactions.". J. Biol. Chem. 257 (19): 11667–72. PMID 7118902.
- Briggs MM, Maready M, Schmidt JM, Schachat F (1994). "Identification of a fetal exon in the human fast troponin T gene.". FEBS Lett. 350 (1): 37–40. PMID 8062920. doi:10.1016/0014-5793(94)00729-2.
- Mao C, Baumgartner AP, Jha PK; et al. (1997). "Assignment of the human fast skeletal troponin T gene (TNNT3) to chromosome 11p15.5: evidence for the presence of 11pter in a monochromosome 9 somatic cell hybrid in NIGMS mapping panel 2.". Genomics 31 (3): 385–8. PMID 8838323. doi:10.1006/geno.1996.0064.
- 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.
- Krakowiak PA, O'Quinn JR, Bohnsack JF; et al. (1997). "A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.". Am. J. Hum. Genet. 60 (2): 426–32. PMC 1712403. PMID 9012416.
- Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M (1998). "Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).". Am. J. Med. Genet. 76 (1): 93–8. PMID 9508073. doi:10.1002/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K.
- 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.
- Hsiao CD, Tsai WY, Horng LS, Tsai HJ (2004). "Molecular structure and developmental expression of three muscle-type troponin T genes in zebrafish.". Dev. Dyn. 227 (2): 266–79. PMID 12761854. doi:10.1002/dvdy.10305.
- Sung SS, Brassington AM, Krakowiak PA; et al. (2003). "Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.". Am. J. Hum. Genet. 73 (1): 212–4. PMC 1180583. PMID 12865991. doi:10.1086/376418.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. PMC 528928. PMID 15489334. doi:10.1101/gr.2596504.
- Witt SH, Granzier H, Witt CC, Labeit S (2005). "MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination.". J. Mol. Biol. 350 (4): 713–22. PMID 15967462. doi:10.1016/j.jmb.2005.05.021.
- Chaudhuri T, Mukherjea M, Sachdev S; et al. (2005). "Role of the fetal and alpha/beta exons in the function of fast skeletal troponin T isoforms: correlation with altered Ca2+ regulation associated with development.". J. Mol. Biol. 352 (1): 58–71. PMID 16081096. doi:10.1016/j.jmb.2005.06.066.
- Stelzl U, Worm U, Lalowski M; et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. PMID 16169070. doi:10.1016/j.cell.2005.08.029.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. PMC 1356129. PMID 16344560. doi:10.1101/gr.4039406.