Gene
tnnc1a
- ID
- ZDB-GENE-030523-1
- Name
- troponin C type 1a (slow)
- Symbol
- tnnc1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have actin filament binding activity; calcium ion binding activity; and calcium-dependent protein binding activity. Involved in cardiac muscle contraction; cardiac ventricle development; and response to activity. Predicted to localize to troponin complex. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1Z; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 13. Is expressed in heart primordium; mesoderm; muscle; and pericardial region. Orthologous to human TNNC1 (troponin C1, slow skeletal and cardiac type).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 13 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103465 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
dilated cardiomyopathy 1Z | Alliance | Cardiomyopathy, dilated, 1Z | 611879 |
hypertrophic cardiomyopathy 13 | Alliance | Cardiomyopathy, hypertrophic, 13 | 613243 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair |
---|---|---|---|---|
UniProtKB:Q5XJB2
|
161 | |||
UniProtKB:Q800V7
|
161 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
tnnc1a-201
(1)
|
Ensembl | 1,089 nt |
Interactions and Pathways
No data available
Plasmids
No data available