Gene

acta1b

ID
ZDB-GENE-030131-55
Name
actin alpha 1, skeletal muscle b
Symbol
acta1b Nomenclature History
Previous Names
  • actc1
  • actc (1)
  • cfk (1)
  • cardiofunk
  • hm:zeh0631
  • zeh0631
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
Expression
All Expression Data
17 figures from 13 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With acta1b 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 acta1b 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:Q6XNL8 377
UniProtKB:Q4KMI7 377
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations