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
- Involved in embryonic heart tube development and skeletal muscle fiber development. Predicted to localize to dynactin complex. 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 fiber-type disproportion and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital fiber-type disproportion | Alliance | Myopathy, congenital, with fiber-type disproportion 1 | 255310 |
| nemaline myopathy 3 | Alliance | Myopathy, actin, congenital, with cores | 161800 |
| nemaline myopathy 3 | Alliance | Myopathy, actin, congenital, with excess of thin myofilaments | 161800 |
| nemaline myopathy 3 | Alliance | Nemaline myopathy 3, autosomal dominant or recessive | 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:Q6XNL8
|
377 | ||||
|
UniProtKB:Q4KMI7
|
377 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
acta1b-201
(1)
|
1542 nt |
Interactions and Pathways
No data available
Plasmids
No data available