ACTC1 information

ACTC1
Identifiers
Aliases	ACTC1, ACTC, ASD5, CMD1R, CMH11, LVNC4, actin, alpha, cardiac muscle 1, actin alpha cardiac muscle 1
External IDs	OMIM: 102540; MGI: 87905; HomoloGene: 68446; GeneCards: ACTC1; OMA:ACTC1 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	34,795,549 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	113,884,029 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; right ventricle; ; cardiac muscle tissue of right atrium; ; right auricle; ; apex of heart; ; vena cava; ; glutes; ; seminal vesicula; ; tibialis anterior muscle; ; popliteal artery;
	Top expressed in
	atrioventricular valve; ; endocardial cushion; ; atrium; ; interventricular septum; ; vastus lateralis muscle; ; triceps brachii muscle; ; extraocular muscle; ; digastric muscle; ; right ventricle; ; semi-lunar valve;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; myosin binding; ATPase activity; ATP binding;
Cellular component	cytoplasm; cell body; cytosol; blood microparticle; membrane; I band; focal adhesion; filopodium; sarcomere; actin filament; extracellular exosome; cytoskeleton; lamellipodium; extracellular space; synapse; glutamatergic synapse;
Biological process	actin-myosin filament sliding; cardiac muscle contraction; actomyosin structure organization; negative regulation of apoptotic process; cardiac muscle tissue morphogenesis; actin filament-based movement; skeletal muscle thin filament assembly; cardiac myofibril assembly; actin-mediated cell contraction; positive regulation of gene expression; muscle filament sliding; mesenchyme migration; response to ethanol; heart contraction; apoptotic process; actin filament organization;
	Sources:Amigo / QuickGO
Orthologs
	70
	11464
	ENSG00000159251
	ENSMUSG00000068614
	P68032
	P68033
	NM_005159
	NM_009608
	NP_005150
	NP_033738
	Wikidata
View/Edit Human	View/Edit Mouse

ACTC1 encodes cardiac muscle alpha actin.^[5]^[6] This isoform differs from the alpha actin that is expressed in skeletal muscle, ACTA1. Alpha cardiac actin is the major protein of the thin filament in cardiac sarcomeres, which are responsible for muscle contraction and generation of force to support the pump function of the heart.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000159251 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000068614 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Kramer PL, Luty JA, Litt M (Jul 1992). "Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q". Genomics. 13 (3): 904–5. doi:10.1016/0888-7543(92)90185-U. PMID 1639426.
^ "Entrez Gene: ACTC1 actin, alpha, cardiac muscle 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000159251 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000068614 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1639426-5] Kramer PL, Luty JA, Litt M (Jul 1992). "Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q". Genomics. 13 (3): 904–5. doi:10.1016/0888-7543(92)90185-U. PMID 1639426.

[entrez-6] "Entrez Gene: ACTC1 actin, alpha, cardiac muscle 1".

ACTC1 information

and 10 Related for: ACTC1 information

ACTC1

Hypertrophic cardiomyopathy

Heart

Actin

ACTC

CAPZA2

SORBS2

Human engineered cardiac tissues

MYL4

List of OMIM disorder codes