Gene
tnnt1
- ID
- ZDB-GENE-080723-27
- Name
- troponin T type 1 (skeletal, slow)
- Symbol
- tnnt1 Nomenclature History
- Previous Names
-
- zgc:193831
- zgc:193865
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable tropomyosin binding activity and troponin T binding activity. Acts upstream of or within sarcomere organization. Predicted to be part of troponin complex. Is expressed in muscle and slow muscle cell. Human ortholog(s) of this gene implicated in nemaline myopathy 5A; nemaline myopathy 5B; and nemaline myopathy 5C. Orthologous to human TNNT1 (troponin T1, slow skeletal type).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-tnnt1 | N/A | Pellerin et al., 2020 |
| MO2-tnnt1 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nemaline myopathy 5A | Alliance | Nemaline myopathy 5A, autosomal recessive, severe infantile | 605355 |
| nemaline myopathy 5B | Alliance | Nemaline myopathy 5B, autosomal recessive, childhood-onset | 620386 |
| nemaline myopathy 5C | Alliance | Nemaline myopathy 5C, autosomal dominant | 620389 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Troponin | Troponin domain superfamily | Troponin T |
|---|---|---|---|---|---|
| UniProtKB:A0A8M9PZE1 | InterPro | 266 | |||
| UniProtKB:A0A8M9P738 | InterPro | 259 | |||
| UniProtKB:B3DG30 | InterPro | 268 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-16P21 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193831 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193865 | ZFIN Curated Data | |
| Has Artifact | cDNA | MGC:109705 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001128695 (1) | 910 nt | ||
| Genomic | GenBank:BX511021 (1) | 235632 nt | ||
| Polypeptide | UniProtKB:B3DG30 (1) | 268 aa |
- Lee, S., Eum, J., Park, S., Ki, S., Hwang, B.J., Kee, Y., Chae, J.H. (2021) TNNT1 myopathy with novel compound heterozygous mutations. Neuromuscular disorders : NMD. 32(2):176-184
- Pellerin, D., Aykanat, A., Ellezam, B., Troiano, E.C., Karamchandani, J., Dicaire, M.J., Petitclerc, M., Robertson, R., Allard-Chamard, X., Brunet, D., Konersman, C.G., Mathieu, J., Warman Chardon, J., Gupta, V.A., Beggs, A.H., Brais, B., Chrestian, N. (2020) A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Annals of neurology. 87(4):568-583
- Gomes, R.S., Skroblin, P., Munster, A.B., Tomlins, H., Langley, S.R., Zampetaki, A., Yin, X., Wardle, F., Mayr, M. (2016) "Young at heart": Regenerative potential linked to immature cardiac phenotypes. Journal of Molecular and Cellular Cardiology. 92:105-8
- Jackson, H.E., Ono, Y., Wang, X., Elworthy, S., Cunliffe, V.T., Ingham, P.W. (2015) The role of Sox6 in zebrafish muscle fiber type specification. Skeletal muscle. 5:2
- Devakanmalai, G.S., Zumrut, H.E., and Ozbudak, E.M. (2013) Cited3 activates Mef2c to control muscle cell differentiation and survival. Biology Open. 2(5):505-514
- Willaert, A., Khatri, S., Callewaert, B.L., Coucke, P.J., Crosby, S.D., Lee, J.G., Davis, E.C., Shiva, S., Tsang, M., De Paepe, A., and Urban, Z. (2012) GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. Human molecular genetics. 21(6):1248-1259
- Ferrante, M.I., Kiff, R.M., Goulding, D.A., and Stemple, D.L. (2011) Troponin T is essential for sarcomere assembly in zebrafish skeletal muscle. Journal of Cell Science. 124(Pt 4):565-577
- Ochi, H., and Westerfield, M. (2009) Lbx2 regulates formation of myofibrils. BMC Developmental Biology. 9:13
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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