Actc1 actin, alpha, cardiac muscle 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Actc1provided by MGI
Official Full Name: actin, alpha, cardiac muscle 1provided by MGI
Primary source: MGI:MGI:87905
See related: Ensembl:ENSMUSG00000068614 AllianceGenome:MGI:87905
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Actc-1
Summary: Predicted to enable ATP binding activity; microfilament motor activity; and myosin binding activity. Acts upstream of or within several processes, including actin-mediated cell contraction; cardiac muscle tissue morphogenesis; and myofibril assembly. Located in I band. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; musculature; and sensory organ. Used to study dilated cardiomyopathy 1R. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated cardiomyopathy; dilated cardiomyopathy 1R; and hypertrophic cardiomyopathy 11. Orthologous to human ACTC1 (actin alpha cardiac muscle 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward heart adult (RPKM 9964.4) See more
Orthologs: human all
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Genomic context

Location:: 2 E4; 2 57.55 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (113877763..113883356, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (114047282..114052875, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study provides novel insights into the complex genetic regulation of Actc1 expression in early adult skeletal muscles.
Title: Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.
Analogous to the findings in human skeletal muscle, Actc1 expression in mouse gastrocnemius muscle increased after testosterone deprivation in orchidectomized mice compared with sham controls
Title: Actin alpha cardiac muscle 1 gene expression is upregulated in the skeletal muscle of men undergoing androgen deprivation therapy for prostate cancer.
ACTC E361G mutation uncouples the relationship between Ca(2+) sensitivity and troponin I phosphorylation, predisposing the heart to dilated cardiomyopathy under conditions of chronic stress.
Title: A dilated cardiomyopathy mutation blunts adrenergic response and induces contractile dysfunction under chronic angiotensin II stress.
results demonstrate that in ACTC(Co)/KO myofibres, the presence of cardiac alpha-actin instead of skeletal muscle alpha-actin alters actin conformational changes upon activation; this later finely modulates the strain of individual actomyosin interactions and overall lowers myofibre force production
Title: Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.
Data indicate that the tri-helix bundle is important to the regulatory role of cMyBP-C, likely through actin-binding interactions.
Title: A gain-of-function mutation in the M-domain of cardiac myosin-binding protein-C increases binding to actin.
propose that the ACTC E99K mutation causes higher myofibrillar Ca(2+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice.
Title: Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.
These results demonstrate the importance of the Emb-MEF2D-histone transacetylase p300 complex in the transcriptional regulation of the cardiac actin gene and suggest a potential role in chromatin remodeling associated with muscle gene activation.
Title: A novel complex regulates cardiac actin gene expression through interaction of Emb, a class VI POU domain protein, MEF2D, and the histone transacetylase p300.
Other actin isoforms cannot compensate for the lack of cardiac alpha-actin, and this seems to induce apoptosis in defective cardiac myocytes, which are not able to cope with the increased workload in the perinatal phase.
Title: Cellular disorganization and extensive apoptosis in the developing heart of mice that lack cardiac muscle alpha-actin: apparent cause of perinatal death.
there is a cardiac-specific enhancer located within -2.354/-1.36 kbp of Actc1
Title: Characterization of a cardiac-specific enhancer, which directs {alpha}-cardiac actin gene transcription in the mouse adult heart.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Actc1 (e-PCR), detects polymorphism
- UniSTS:463398

Actc1 (e-PCR), detects polymorphism
- UniSTS:238125

PMC23952P1 (e-PCR)
- UniSTS:272216

PMC109445P1 (e-PCR)
- UniSTS:270169

UniSTS:478948 (e-PCR)
- UniSTS:478948

Actc1 (e-PCR), detects polymorphism
- UniSTS:478948

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	ISO Inferred from Sequence Orthology more info
enables myosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament-based movement	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within actin-mediated cell contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin-myosin filament sliding	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin-myosin filament sliding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within actomyosin structure organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle thin filament assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcomere	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcomere	ISO Inferred from Sequence Orthology more info
is_active_in synapse	EXP Inferred from Experiment more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: actin, alpha cardiac muscle 1

Names: actin alpha cardiac; alpha-cardiac actin; alphac-actin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.