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ACTA1 - actin, alpha 1, skeletal muscle
Entrez Gene Name: actin, alpha 1, skeletal muscle
Synonyms: AA959943, ACTA, Acta-2, ACTA1, Acts, Actsk-1, ALPHA SKELETAL ACTIN, ALPHA1 ACTIN, ASMA, CFTD, CFTD1, CFTDM, Fetal isoform of skeletal alpha-actin, G-actin, MPFD, NEM1, NEM2, NEM3, SKA, SKELETAL ALPHA-ACTIN, SKELETAL MUSCLE ACTIN

Gene Summary

  • Human (58): The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq]
  • Rat (29437): may act as a structural component of the cytoskeleton; may play a role in muscle function [RGD]

Cell Regulation

Regulates:
  • Actin
  • YOPO
  • Alpha catenin
View all 91 in IPA
Regulated by:
  • WAS
  • TGFB1
  • F2
View all 761 in IPA
Binds:
  • PGK1
  • GSN
  • EZR
View all 270 in IPA
Role in cell:
  • formation
  • morphology
  • transport
View all 53 in IPA
Disease:
  • cystic fibrosis
  • myocardial infarction
  • infection
View all 13 in IPA

Biological Process

cell growth, muscle contraction, muscle thin filament assembly, response to extracellular stimulus, response to long exposure to lithium ion, response to mechanical stimulus, response to steroid hormone stimulus, skeletal muscle fiber adaptation, skeletal muscle fiber development

Cellular Components

actin filament, cytoplasm, cytoskeleton, stress fiber, striated muscle thin filament

Literature References

  • 17218253Ayala R, Shu T, Tsai LH. Trekking across the brain: the journey of neuronal migration.Cell 2007 Jan 12;128(1):29-43
  • 15630019Govek EE, Newey SE, Van Aelst L. The role of the Rho GTPases in neuronal development.Genes Dev 2005 01 1;19(1):1-49
  • 14592989Stuven T, Hartmann E, Gorlich D. Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes.EMBO J 2003 11 3;22(21):5928-40
  • View 3397 categorized literature findings and their references in IPA

Molecular Functions

ADP binding, ATP binding, myosin binding, nucleotide binding, protein binding, structural constituent of cytoskeleton

Protein Domains

ATP binding, motor protein, myosin binding, protein binding, structural constituent of cytoskeleton

Subcellular Locations

actin cytoskeleton, actin stress fibers, cytoplasm, filopodia, Golgi membranes, microfilaments