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GeneQ17709273· pop 7· linked from 283 articles

ACTC1

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Also known as ACTC, ASD5, CMD1R, CMH11, LVNC4, actin, alpha, cardiac muscle 1, actin alpha cardiac muscle 1

ACTC1 encodes cardiac muscle alpha actin. 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.

Gene data

ACTC1
Name
actin alpha cardiac muscle 1
Type
protein-coding
Position
34,790,107–34,795,912 (−)
Aliases
ACTC, ASD5, CMD1R, CMH11, LVNC4
Ensembl
ENSG00000159251
RefSeq RNA
NM_001406482.1, NM_001406483.1, NM_001406484.1, NM_001406485.1, NM_005159.5
RefSeq protein
NP_001393411.1, NP_001393412.1, NP_001393413.1, NP_001393414.1, NP_005150.1

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].

Gene Ontology

Pathways

Cardiac muscle contraction - Homo sapiens (human)Adrenergic signaling in cardiomyocytes - Homo sapiens (human)Hypertrophic cardiomyopathy - Homo sapiens (human)Dilated cardiomyopathy - Homo sapiens (human)Extracellular matrix organizationExtracellular matrix organizationCell-Cell communicationCell-Cell communicationSignal TransductionSignaling by Rho GTPases

via MyGene.info

Gene · Ensembl

actin alpha cardiac muscle 1

Symbol
ACTC1
Biotype
Protein coding
Organism
Homo sapiens
Location
15:34,790,107-34,795,912
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~3 min read

Encyclopedic overview

6 sections
Contents
  • Structure
  • Function
  • Clinical significance
  • References
  • Further reading
  • External links

ACTC1 encodes cardiac muscle alpha actin. 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.

== Structure ==

Excerpted from Wikipedia’s “ACTC1” article, available under the CC BY-SA 4.0 licence.

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