Gene
actc1b
- ID
- ZDB-GENE-000322-1
- Name
- actin alpha cardiac muscle 1b
- Symbol
- actc1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity. Predicted to localize to actin cytoskeleton. Used to study nemaline myopathy. 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 several structures, including EVL; mesoderm; musculature system; pericardial region; and trunk. Orthologous to human ACTC1 (actin alpha cardiac muscle 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 33 figures from 17 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55618 (11 images)
- eu184 (1 image)
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| nemaline myopathy | WT + MO1-actc1b | standard conditions | Sztal et al., 2015 |
| nemaline myopathy | WT + MO2-actc1b | standard conditions | Sztal et al., 2015 |
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:Q9I8V1
|
377 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available