Acta1 actin alpha 1, skeletal muscle [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acta1provided by MGI
Official Full Name: actin alpha 1, skeletal muscleprovided by MGI
Primary source: MGI:MGI:87902
See related: Ensembl:ENSMUSG00000031972 AllianceGenome:MGI:87902
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: Acts; Acta-2; Actsk-1
Summary: Predicted to enable ATP binding activity and hydrolase activity. Involved in skeletal muscle fiber development. Predicted to be located in several cellular components, including filopodium; lamellipodium; and sarcomere. Predicted to be part of protein-containing complex. Predicted to be active in actin filament; stress fiber; and striated muscle thin filament. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and limb. Used to study nemaline myopathy 3. Human ortholog(s) of this gene implicated in congenital myopathy 2B; congenital myopathy 2C; and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in mammary gland adult (RPKM 2915.2), bladder adult (RPKM 558.4) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E2; 8 72.26 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (124618497..124621514, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (123891758..123894775, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Found that the expression of skeletal muscle actin (Acta1) was increased in the myocardium of Dsg2 mutant and Dsg2cKO mice prior to lesion formation, and show that Acta1 expression further increases during disease progression with a conspicuous accumulation of F-actin at intercalated discs.
Title: Desmoglein 2 mutation provokes skeletal muscle actin expression and accumulation at intercalated discs in murine hearts.
alpha smooth muscle actin (alphaSMA) was identified as a marker of osteoprogenitor cells in bone and periodontium.
Title: Osteogenic potential of alpha smooth muscle actin expressing muscle resident progenitor cells.
WIP is a link between membrane lipid composition and actin cytoskeleton at dendritic spines.
Title: WIP modulates dendritic spine actin cytoskeleton by transcriptional control of lipid metabolic enzymes.
ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism.
Title: Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism.
Combined MRI and (3)(1)P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.
Title: Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.
Data indicate roles for linkers of nucleus to cytoskeleton (LINC) molecules nesprin2giant and nesprin3, which anchor actin cap fibers to the nucleus.
Title: The LINC-anchored actin cap connects the extracellular milieu to the nucleus for ultrafast mechanotransduction.
Asp286Gly acts as a "poison-protein" and according to the computational analysis it modifies the actin-actin interface. This phenomenon is likely to prevent proper myosin cross-bridge binding.
Title: Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.
Data show that upon actin binding, the two domains of utrophin become dramatically separated and ordered, indicating a transition to a single open and extended conformation.
Title: Large-scale opening of utrophin's tandem calponin homology (CH) domains upon actin binding by an induced-fit mechanism.
Data indicated that CacyBP/SIP could simultaneously interact with tubulin and actin, suggesting that CacyBP/SIP might link actin and tubulin cytoskeletons.
Title: Tubulin binding protein, CacyBP/SIP, induces actin polymerization and may link actin and tubulin cytoskeletons.
Results provide the genetic proof that platelet production from megakaryocytes strictly requires dynamic changes in the actin cytoskeleton.
Title: ADF/n-cofilin-dependent actin turnover determines platelet formation and sizing.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC83875P1 (e-PCR)
- UniSTS:273432

PMC151529P1 (e-PCR)
- UniSTS:271148

Acta1 (e-PCR), detects polymorphism
- UniSTS:238124

PMC108612P1 (e-PCR)
- UniSTS:270141

PMC316374P1 (e-PCR)
- UniSTS:272962

STS_ADH2 (e-PCR)
- UniSTS:470621

GVL|STS_ADH2 (e-PCR)
- UniSTS:470621

AA959943 (e-PCR)
- UniSTS:159840

PMC133998P8 (e-PCR)
- UniSTS:270713

PMC209527P1 (e-PCR)
- UniSTS:271999

D687 (e-PCR)
- UniSTS:116353

LOC345651 (e-PCR)
- UniSTS:265879

PMC212730P1 (e-PCR)
- UniSTS:272026

PMC87052P1 (e-PCR)
- UniSTS:273574

Acta1 (e-PCR), detects polymorphism
- UniSTS:141013

Acta1 (e-PCR), detects polymorphism
- UniSTS:141014

Acta1 (e-PCR), detects polymorphism
- UniSTS:141015

Acta1 (e-PCR), detects polymorphism
- UniSTS:478947

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to potassium ion	IEA Inferred from Electronic Annotation more info
involved_in mesenchyme migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to steroid hormone	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber adaptation	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber development	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal muscle thin filament assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle thin filament assembly	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle thin filament assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology 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 actin filament	ISS Inferred from Sequence or Structural Similarity more info
located_in cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in sarcomere	ISO Inferred from Sequence Orthology more info
is_active_in stress fiber	IBA Inferred from Biological aspect of Ancestor more info
located_in stress fiber	ISO Inferred from Sequence Orthology more info
located_in stress fiber	ISS Inferred from Sequence or Structural Similarity more info
is_active_in striated muscle thin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in striated muscle thin filament	ISO Inferred from Sequence Orthology more info
located_in striated muscle thin filament	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: actin, alpha skeletal muscle

Names: alpha-actin-1

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.

mRNA and Protein(s)

NM_001272041.1 → NP_001258970.1 actin, alpha skeletal muscle

See identical proteins and their annotated locations for NP_001258970.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC147266, M12866

Consensus CDS

CCDS22764.1

UniProtKB/Swiss-Prot

P68134

UniProtKB/TrEMBL

Q3TG92, Q3UIJ3, Q9CXK3

Conserved Domains (1) summary

PTZ00281
Location:4 → 377

PTZ00281; actin; Provisional
NM_009606.3 → NP_033736.1 actin, alpha skeletal muscle

See identical proteins and their annotated locations for NP_033736.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC147266, M12866

Consensus CDS

CCDS22764.1

UniProtKB/Swiss-Prot

P68134

UniProtKB/TrEMBL

Q3TG92, Q3UIJ3, Q9CXK3

Related

ENSMUSP00000034453.5, ENSMUST00000034453.6

Conserved Domains (1) summary

PTZ00281
Location:4 → 377

PTZ00281; actin; Provisional