ACTC1 Gene Summary [Human]

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]

Details

Type
Processed Transcript
Official Symbol
ACTC1
Official Name
actin alpha cardiac muscle 1 [Source:HGNC Symbol;Acc:HGNC:143]
Ensembl ID
ENSG00000159251
Bio databases IDs NCBI: 70 Ensembl: ENSG00000159251
Aliases actin alpha cardiac muscle 1
Synonyms ACTC, actin alpha cardiac muscle 1, actin, alpha, cardiac muscle 1, actin α cardiac muscle 1, actin, α, cardiac muscle 1, alpha-cardiac actin, ASD5, Cardiac α Actin, CMD1R, CMH11, LVNC4, α-cardiac actin
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ACTC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • myosin binding
  • Actin
  • ATP binding
  • microfilament motor protein
  • enzyme
  • protein binding
  • ASKHA_ATPase-like

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • atherosclerosis
  • familial hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy-11
  • dilated cardiomyopathy 1R
  • prostate cancer
  • uterine leiomyoma
  • leiomyomatosis
  • chronic sinusitis
  • dilated cardiomyopathy
  • hereditary disorder
regulated by
role in cell
  • apoptosis
  • abnormal morphology
  • disarray
  • assembly
  • structural integrity
  • replication in
  • breakage in
  • movement

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • glutaminergic synapse
  • cellular membrane
  • Nucleus
  • myofilaments
  • actin filaments
  • sarcomere
  • cytosol
  • synapse
  • I band
  • filopodia
  • perikaryon
  • exosomes
  • lamellipodia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ACTC1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • heart contraction
  • actin-myosin filament sliding
  • actomyosin structure organization
  • negative regulation of apoptotic process
  • positive regulation of gene expression
  • skeletal muscle thin filament assembly
  • mesenchyme migration
  • cardiac myofibril assembly
  • actin filament organization
  • actin filament-based movement
  • cardiac muscle tissue morphogenesis

Cellular Component

Where in the cell the gene product is active
  • actin filament
  • extracellular space
  • extracellular vesicular exosome
  • focal adhesion
  • cytoplasm
  • membrane
  • blood microparticle
  • cell body
  • actin cytoskeleton
  • cytosol
  • filopodium
  • I band
  • sarcomere
  • lamellipodium

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • myosin binding
  • microfilament motor activity
  • hydrolase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.