Gene
acta1b
- ID
- ZDB-GENE-030131-55
- Name
- actin alpha 1, skeletal muscle b
- Symbol
- acta1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Acts upstream of or within embryonic heart tube development and skeletal muscle fiber development. Predicted to be active in actin cytoskeleton. Is expressed in several structures, including cardiovascular system; eye; fast muscle myoblast; segmental plate; 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
- 18 figures from 14 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 |
|---|---|---|---|
| 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:Q4KMI7 | InterPro | 377 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
acta1b-201
(1)
|
Ensembl | 1,542 nt | ||
| mRNA |
acta1b-202
(1)
|
Ensembl | 1,188 nt |
Interactions and Pathways
No data available
Plasmids
No data available