ZFIN is now using GRCz12tu for Genomic Data
Gene
actc1a
- ID
- ZDB-GENE-040520-4
- Name
- actin alpha cardiac muscle 1a
- Symbol
- actc1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Ambiguous Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within atrioventricular canal development and endocardial cushion formation. Predicted to be located in cytoskeleton. Predicted to be active in actin cytoskeleton. Is expressed in adaxial cell; brain; muscle; pericardial region; and trunk. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated cardiomyopathy; dilated cardiomyopathy 1R; and hypertrophic cardiomyopathy 11. Orthologous to human ACTC1 (actin alpha cardiac muscle 1).
- Genome Resources
- Note
-
The nomenclature for this gene was based on evidence from Witjes et al. (2019) and in collaboration with HGNC and MGI.
- Comparative Information
-
- All Expression Data
- 15 figures from 11 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 | Additional Resources | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|---|
| UniProtKB:F1RCB6 | InterPro PDB | 377 | ||||
| UniProtKB:Q6IQR3 | InterPro | 377 |
- Genome Browsers
| 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 | ||
| mRNA |
actc1a-203
(1)
|
Ensembl | 1,320 nt | ||
| ncRNA |
si:ch73-187m15.4-002
(1)
|
Ensembl | 557 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers