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

Acts upstream of or within skeletal muscle fiber development. Predicted to be located in cytoskeleton and nucleus. Predicted to be active in actin cytoskeleton. Is expressed in several structures, including adaxial cell; fin; musculature system; pericardial region; and trunk. Human ortholog(s) of this gene implicated in congenital myopathy 2B; congenital myopathy 2C; and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

23 figures from 11 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:112098 (17 images)

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 myopathy 2B	Alliance	Congenital myopathy 2B, severe infantile, autosomal recessive	620265
congenital myopathy 2C	Alliance	Congenital myopathy 2C, severe infantile, autosomal dominant	620278
nemaline myopathy 3	Alliance	Congenital myopathy 2A, typical, autosomal dominant	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