ZFIN ID: ZDB-GENE-040520-4
Gene Name: actin alpha cardiac muscle 1a
Gene Symbol: actc1a    Nomenclature History

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Previous Names: actc1l, actcl (1), alpha cardiac actin (1), unm s434, unm_s434

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 20 Mapping Details/Browsers
Description: Predicted to have ATP binding activity. Involved in atrioventricular canal development and endocardial cushion formation. Predicted to localize to actin cytoskeleton. 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: Alliance (1),  Gene:408256 (1), 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
s434 Point Mutation Unknown Missense ENU
sa29379 Point Mutation Unknown Splice Site ENU
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
MO1-actc1a N/A 1
MO2-actc1a N/A 1
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
Left ventricular noncompaction 4 613424
hypertrophic cardiomyopathy 11 Alliance Cardiomyopathy, hypertrophic, 11 612098
DISEASE ASSOCIATED WITH actc1a VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process atrioventricular canal development (more)
Cellular Component cytoplasm (more)
Molecular Function ATP binding (more)
GO Terms (all 9)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA actc1a-201 (1)    Ensembl 1308
Browsers: NCBI
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM actc1a No data available
MARKER RELATIONSHIPS
actc1a Contained in: [BAC] DKEY-81B15 (1) (order this)
actc1a Encodes: [cDNA] MGC:86651 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001001409 (1) 1331 nt
Genomic GenBank:BX248136 (1) 222316 nt Blast at MegaBLAST
Polypeptide UniProtKB:Q6IQR3 (1) 377 aa
Sequence Information (all 14)
ORTHOLOGY for actc1a ( Chr: 20 )
CITATIONS (46)