ZFIN is now using GRCz12tu for Genomic Data
Gene
acta1a
- ID
- ZDB-GENE-050417-267
- Name
- actin alpha 1, skeletal muscle a
- Symbol
- acta1a Nomenclature History
- Previous Names
-
- hm:zeh0293
- zeh0293
- zgc:112098
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Acts upstream of or within skeletal muscle fiber development. Predicted to be located in cytoskeleton and nucleus. Predicted to be active in actin cytoskeleton. Is expressed in several structures, including adaxial cell; fin; musculature system; pericardial region; and trunk. Human ortholog(s) of this gene implicated in congenital myopathy 2B; congenital myopathy 2C; and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112098 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myopathy 2B | Alliance | Congenital myopathy 2B, severe infantile, autosomal recessive | 620265 |
| congenital myopathy 2C | Alliance | Congenital myopathy 2C, severe infantile, autosomal dominant | 620278 |
| nemaline myopathy 3 | Alliance | Congenital myopathy 2A, typical, autosomal dominant | 161800 |
| ?Myopathy, scapulohumeroperoneal | 616852 |
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:Q567E8 | InterPro | 377 | ||||
| UniProtKB:A0AB32TN73 | InterPro | 377 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
acta1a-201
(1)
|
Ensembl | 1,612 nt | ||
| ncRNA |
acta1a-002
(1)
|
Ensembl | 557 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers