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

    Gene ID: 11464, updated on 9-Dec-2024

    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; heart; and musculature. 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, Dec 2024]
    Expression
    Restricted expression toward heart adult (RPKM 9964.4) See more
    Orthologs
    NEW
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    Genomic context

    See Actc1 in Genome Data Viewer
    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_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39909 Neighboring gene gap junction protein, delta 2 Neighboring gene gap junction protein, delta 2 opposite strand Neighboring gene actin, alpha, cardiac muscle 1 divergent transcript Neighboring gene predicted gene, 46757 Neighboring gene predicted gene, 54143

    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)
    • Endonuclease-mediated (5) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC118715

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables microfilament motor 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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin binding ISO
    Inferred from Sequence Orthology
    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    involved_in mesenchyme migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in actin filament ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    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 
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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

    Preferred Names
    actin, alpha cardiac muscle 1
    Names
    actin alpha cardiac
    alpha-cardiac actin
    alphac-actin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009608.4NP_033738.1  actin, alpha cardiac muscle 1

      See identical proteins and their annotated locations for NP_033738.1

      Status: VALIDATED

      Source sequence(s)
      AC133157, AK169165, BY774015
      Consensus CDS
      CCDS16564.1
      UniProtKB/Swiss-Prot
      P68033
      UniProtKB/TrEMBL
      Q3TG92, Q3UIJ3, Q497E4, Q9CXK3
      Related
      ENSMUSP00000087736.7, ENSMUST00000090269.7
      Conserved Domains (1) summary
      PTZ00281
      Location:4377
      PTZ00281; actin; Provisional

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      113877763..113883356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)