Gene

Acta1

Species
Mus musculus
Symbol
Acta1
Name
actin alpha 1, skeletal muscle
Synonyms
  • AA959943
  • Acta-2
Biotype
protein coding gene
Automated Description
Predicted to enable ATP binding activity and hydrolase activity. Involved in skeletal muscle fiber development. Predicted to be located in several cellular components, including filopodium; lamellipodium; and sarcomere. Predicted to be part of protein-containing complex. Predicted to be active in actin filament; stress fiber; and striated muscle thin filament. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and limb. Used to study nemaline myopathy 3. 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).
MGI Description
PHENOTYPE: Homozygous mutant animals die by postnatal day 10 and display reduced body weight/size, atrophy of brown adipose tissue, depleted glycogen stores of the liver and skeletal muscles, muscle weakness, and scoliosis. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11937
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
124.6190M124.6195M124.6200M124.6205M124.6210M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions