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
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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Troponin | Troponin domain superfamily | Troponin T |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PZE1
|
266 | |||
|
UniProtKB:A0A8M9P738
|
259 | |||
|
UniProtKB:B3DG30
|
268 |
Interactions and Pathways
No data available
Plasmids
No data available