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
Involved in skeletal muscle fiber development. Predicted to localize to several cellular components, including dynactin complex; filopodium; and lamellipodium. Is expressed in several structures, including adaxial cell; fin; musculature system; pericardial region; 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
Expression
All Expression Data
19 figures from 7 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With acta1a Human Ortholog
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
Associated With acta1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR004001 Actin, conserved site
Conserved_site IPR020902 Actin/actin-like conserved site
Family IPR004000 Actin family
Homologous_superfamily IPR043129 ATPase, nucleotide binding domain
Domain Details Per Protein
Protein Length Actin/actin-like conserved site Actin, conserved site Actin family ATPase, nucleotide binding domain
UniProtKB:Q567E8 377
UniProtKB:F1QUN8 377
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations