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 have ATP binding activity and protein kinase activity. Involved in myofibril assembly and skeletal muscle tissue development. Predicted to localize to plasma membrane. 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
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 |
| tibial muscular dystrophy | Alliance | Tibial muscular dystrophy, tardive | 600334 |
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