Gene
ttn.1
- ID
- ZDB-GENE-030616-413
- Name
- titin, tandem duplicate 1
- Symbol
- ttn.1 Nomenclature History
- Previous Names
-
- TTN1 (1)
- ttnb
- ttnl
- hm:zeh1256r
- im:6911926
- si:dZ167C3.1
- si:dz249n21.1
- wu:fc09a12
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of muscle. Acts upstream of or within myofibril assembly and skeletal muscle tissue development. Predicted to be active in M band. Is expressed in several structures, including cardiovascular system; floor plate; mesoderm; musculature system; and pectoral fin. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human TTN (titin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 74 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6911926 (7 images)
- IMAGE:7137241 (9 images)
- IMAGE:7152005 (13 images)
- eu247 (19 images)
- IMAGE:7148021 (15 images)
- IMAGE:7158196 (17 images)
- IMAGE:7155830 (17 images)
- IMAGE:7158960 (16 images)
- IMAGE:7159792 (18 images)
- IMAGE:7163675 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu7916 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa529 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa656 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa2520 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa2521 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa5562 | unknown | Unknown | Unknown | ENU | |
| sa7209 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa7211 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8651 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8738 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ttn.1 | Zhu et al., 2024 | |
| CRISPR2-ttn.1 | Zhu et al., 2024 | |
| MO1-ttn.1 | N/A | Seeley et al., 2007 |
| MO2-ttn.1 | N/A | (3) |
| MO3-ttn.1 | N/A | (2) |
| MO4-ttn.1 | N/A | Steffen et al., 2007 |
| TALEN1-ttn.1 | (3) | |
| TALEN2-ttn.1 | (3) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2J | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 10 | 608807 |
| congenital myopathy 5 | Alliance | Congenital myopathy 5 with cardiomyopathy | 611705 |
| dilated cardiomyopathy 1G | Alliance | Cardiomyopathy, dilated, 1G | 604145 |
| hypertrophic cardiomyopathy 9 | Alliance | Cardiomyopathy, familial hypertrophic, 9 | 613765 |
| myofibrillar myopathy 9 | Alliance | Myopathy, myofibrillar, 9, with early respiratory failure | 603689 |
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Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-198B21 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-190I10 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-167C3 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-249N21 | ZFIN Curated Data | |
| Encodes | EST | eu247 | Thisse et al., 2005 | |
| Encodes | EST | fc09a12 | ZFIN Curated Data | |
| Encodes | EST | fz71a10 | ||
| Encodes | EST | IMAGE:6911926 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7137241 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7148021 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | WashUZ:wz12773 | 898 nt | ||
| Genomic | GenBank:DQ649453 (1) | 441087 nt | ||
| Polypeptide | GenPept:ABG48499 (1) | 28835 aa |
- Roychaudhury, A., Lee, Y.R., Choi, T.I., Thomas, M.G., Kahn, T.N., Yousaf, H., Skinner, C., Maconachie, G., Crosier, M., Horak, H., Constantinescu, C.S., Kim, T.Y., Lee, K.H., Kyung, J.J., Wang, T., Ku, B., Chodirker, B.N., Hammer, M.F., Gottlob, I., Norton, W.H.J., Gorlei, R., Kim, H.G., Graziano, C., Pippucci, T., Lovino, E., Montanari, F., Severi, G., Toro, C., Boerkoel, C.F., Cha, H.S., Choi, C.Y., Kim, S., Yoon, J.Y., Gilmore, K., Vora, N.L., Davis, E.E., Chudley, A.E., Schwartz, C.E., and Kim, C.H. (2024) SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability. Annals of neurology. 96(5):914-931
- Töpf, A., Cox, D., Zaharieva, I.T., Di Leo, V., Sarparanta, J., Jonson, P.H., Sealy, I.M., Smolnikov, A., White, R.J., Vihola, A., Savarese, M., Merteroglu, M., Wali, N., Laricchia, K.M., Venturini, C., Vroling, B., Stenton, S.L., Cummings, B.B., Harris, E., Marini-Bettolo, C., Diaz-Manera, J., Henderson, M., Barresi, R., Duff, J., England, E.M., Patrick, J., Al-Husayni, S., Biancalana, V., Beggs, A.H., Bodi, I., Bommireddipalli, S., Bönnemann, C.G., Cairns, A., Chiew, M.T., Claeys, K.G., Cooper, S.T., Davis, M.R., Donkervoort, S., Erasmus, C.E., Fassad, M.R., Genetti, C.A., Grosmann, C., Jungbluth, H., Kamsteeg, E.J., Lornage, X., Löscher, W.N., Malfatti, E., Manzur, A., Martí, P., Mongini, T.E., Muelas, N., Nishikawa, A., O'Donnell-Luria, A., Ogonuki, N., O'Grady, G.L., O'Heir, E., Paquay, S., Phadke, R., Pletcher, B.A., Romero, N.B., Schouten, M., Shah, S., Smuts, I., Sznajer, Y., Tasca, G., Taylor, R.W., Tuite, A., Van den Bergh, P., VanNoy, G., Voermans, N.C., Wanschitz, J.V., Wraige, E., Yoshimura, K., Oates, E.C., Nakagawa, O., Nishino, I., Laporte, J., Vilchez, J.J., MacArthur, D.G., Sarkozy, A., Cordell, H.J., Udd, B., Busch-Nentwich, E.M., Muntoni, F., Straub, V. (2024) Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics. 56(3):395-407
- Zhu, P., Li, J., Yan, F., Islam, S., Lin, X., Xu, X. (2024) Allelic heterogeneity of TTNtv cardiomyopathy can be modeled in adult zebrafish. JCI insight. 9(7):
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- Metikala, S., Casie Chetty, S., Sumanas, S. (2021) Single-cell transcriptome analysis of the zebrafish embryonic trunk. PLoS One. 16:e0254024
- Demin, K.A., Lakstygal, A.M., Krotova, N.A., Masharsky, A., Tagawa, N., Chernysh, M.V., Ilyin, N.P., Taranov, A.S., Galstyan, D.S., Derzhavina, K.A., Levchenko, N.A., Kolesnikova, T.O., Mor, M.S., Vasyutina, M.L., Efimova, E.V., Katolikova, N., Prjibelski, A.D., Gainetdinov, R.R., de Abreu, M.S., Amstislavskaya, T.G., Strekalova, T., Kalueff, A.V. (2020) Understanding complex dynamics of behavioral, neurochemical and transcriptomic changes induced by prolonged chronic unpredictable stress in zebrafish. Scientific Reports. 10:19981
- Ben-Yair, R., Butty, V.L., Busby, M., Qiu, Y., Levine, S.S., Goren, A., Boyer, L.A., Burns, C.G., Burns, C.E. (2019) H3K27me3-mediated silencing of structural genes is required for zebrafish heart regeneration. Development (Cambridge, England). 146(19):
- Sharma, D., Sehgal, P., Mathew, S., Vellarikkal, S.K., Singh, A.R., Kapoor, S., Jayarajan, R., Scaria, V., Sivasubbu, S. (2019) A genome-wide map of circular RNAs in adult zebrafish. Scientific Reports. 9:3432
- Zhou, X., Cao, C.Y., Wan, A.T., Yue, G.G., Kwok, F.H., Fung, K.P., Sun, H., Lau, C.B., Puno, P.T., Tsui, S.K. (2018) Functional roles of eriocalyxin B in zebrafish revealed by transcriptome analysis. Molecular omics. 14(3):156-169
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
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