Gene

actc1a

ID
ZDB-GENE-040520-4
Name
actin alpha cardiac muscle 1a
Symbol
actc1a Nomenclature History
Previous Names
  • actc1l
  • actcl (1)
  • alpha cardiac actin (1)
  • unm s434
  • unm_s434
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Acts upstream of or within atrioventricular canal development and endocardial cushion formation. Predicted to be part of dynactin complex. Is expressed in adaxial cell; brain; muscle; pericardial region; and trunk. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated cardiomyopathy; dilated cardiomyopathy 1R; and hypertrophic cardiomyopathy 11. Orthologous to human ACTC1 (actin alpha cardiac muscle 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
13 figures from 9 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
7 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With actc1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
atrial heart septal defect 5 Alliance Atrial septal defect 5 612794
dilated cardiomyopathy 1R Alliance Cardiomyopathy, dilated, 1R 613424
dilated cardiomyopathy 1R Alliance Left ventricular noncompaction 4 613424
hypertrophic cardiomyopathy 11 Alliance Cardiomyopathy, hypertrophic, 11 612098
Associated With actc1a 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:Q6IQR3 377
UniProtKB:A0A0R4IEZ2 375
UniProtKB:Q9PTR4 377
UniProtKB:A0A2R8RQJ8 133
UniProtKB:F1RCB6 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