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 located in nucleus. 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 | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|
|
UniProtKB:Q4KMI7
|
377 |
| 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