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

Gene ID: 11459, updated on 8-Dec-2022

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. Involved in skeletal muscle fiber development. Predicted to be located in actin cytoskeleton and sarcomere. Predicted to be part of dynactin 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 fiber-type disproportion and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in mammary gland adult (RPKM 2915.2), bladder adult (RPKM 558.4) and 4 other tissues See more
Orthologs
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Genomic context

See Acta1 in Genome Data Viewer
Location:
8 E2; 8 72.26 cM
Exon count:
8
Annotation release Status Assembly Chr Location
109 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_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36896 Neighboring gene predicted gene, 53468 Neighboring gene predicted gene, 29773 Neighboring gene nucleoporin 133 Neighboring gene ATP-binding cassette, sub-family B (MDR/TAP), member 10 Neighboring gene predicted gene, 53469

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 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 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
PubMed 
involved_in skeletal muscle thin filament assembly ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
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
PubMed 
located_in actin filament ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
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
PubMed 
located_in stress fiber ISO
Inferred from Sequence Orthology
more info
 
is_active_in striated muscle thin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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)

  1. NM_001272041.1NP_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
    A0A8C6GS76
    Conserved Domains (1) summary
    PTZ00281
    Location:4377
    PTZ00281; actin; Provisional
  2. NM_009606.3NP_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
    A0A8C6GS76
    Related
    ENSMUSP00000034453.5, ENSMUST00000034453.6
    Conserved Domains (1) summary
    PTZ00281
    Location:4377
    PTZ00281; actin; Provisional

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    124618497..124621514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)