Gene
actc1a
- ID
- ZDB-GENE-040520-4
- Name
- actin alpha cardiac muscle 1a
- Symbol
- actc1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity. Involved in atrioventricular canal development and endocardial cushion formation. Predicted to localize to actin cytoskeleton. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated cardiomyopathy; dilated cardiomyopathy 1R; and hypertrophic cardiomyopathy 11. Is expressed in adaxial cell; brain; muscle; pericardial region; and trunk. Orthologous to human ACTC1 (actin alpha cardiac muscle 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 9 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 |
|---|---|---|---|
| atrial heart septal defect 5 | Alliance | Atrial septal defect 5 | 612794 |
| dilated cardiomyopathy 1R | Alliance | Cardiomyopathy, dilated, 1R | 613424 |
| dilated cardiomyopathy 1R | Alliance | Left ventricular noncompaction 4 | 613424 |
| hypertrophic cardiomyopathy 11 | Alliance | Cardiomyopathy, hypertrophic, 11 | 612098 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|
|
UniProtKB:F1RCB6
|
377 | ||||
|
UniProtKB:Q6IQR3
|
377 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
actc1a-201
(1)
|
Ensembl | 1,308 nt | ||
| mRNA |
actc1a-202
(1)
|
Ensembl | 1,558 nt |
Interactions and Pathways
No data available
Plasmids
No data available