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
- Description
- Predicted to have ATP binding activity. Involved in skeletal muscle fiber development. Predicted to localize to several cellular components, including cell body; filopodium; and lamellipodium. Human ortholog(s) of this gene implicated in nemaline myopathy 3. Is expressed in several structures, including adaxial cell; fin; musculature system; pericardial region; and trunk. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 10 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 | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|
|
UniProtKB:Q567E8
|
377 |
| 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