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    Actn3 actinin alpha 3 [ Mus musculus (house mouse) ]

    Gene ID: 11474, updated on 2-Nov-2024

    Summary

    Official Symbol
    Actn3provided by MGI
    Official Full Name
    actinin alpha 3provided by MGI
    Primary source
    MGI:MGI:99678
    See related
    Ensembl:ENSMUSG00000006457 AllianceGenome:MGI:99678
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. [provided by RefSeq, Sep 2015]
    Expression
    Biased expression in mammary gland adult (RPKM 125.5) and lung adult (RPKM 3.1) See more
    Orthologs
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    Genomic context

    See Actn3 in Genome Data Viewer
    Location:
    19 A; 19 4.12 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (4911244..4927937, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (4861216..4877909, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9452 Neighboring gene coiled-coil domain containing 87 Neighboring gene STARR-seq mESC enhancer starr_45366 Neighboring gene cathepsin F Neighboring gene STARR-positive B cell enhancer ABC_E3236 Neighboring gene zinc finger, DHHC domain containing 24 Neighboring gene Bardet-Biedl syndrome 1 Neighboring gene STARR-seq mESC enhancer starr_45368

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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 (1) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC132876

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in focal adhesion assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in focal adhesion assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in muscle cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of calcineurin-NFAT signaling cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of oxidative phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of relaxation of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of bone mineralization involved in bone maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fast-twitch skeletal muscle fiber contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glucose catabolic process to lactate via pyruvate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of skeletal muscle tissue growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of aerobic respiration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of muscle system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of the force of skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to denervation involved in regulation of muscle adaptation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle atrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transition between fast and slow fiber IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in striated muscle thin filament TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-actinin-3
    Names
    F-actin cross-linking protein
    alpha-actinin skeletal muscle

    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_013456.2NP_038484.1  alpha-actinin-3

      See identical proteins and their annotated locations for NP_038484.1

      Status: REVIEWED

      Source sequence(s)
      AF093775, BX630701, BY132390
      Consensus CDS
      CCDS29441.1
      UniProtKB/Swiss-Prot
      O88990, Q14DS8
      Related
      ENSMUSP00000006626.4, ENSMUST00000006626.5
      Conserved Domains (5) summary
      PTZ00184
      Location:753857
      PTZ00184; calmodulin; Provisional
      COG5069
      Location:42305
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:408635
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam08726
      Location:830896
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam00435
      Location:287396
      Spectrin; Spectrin repeat

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      4911244..4927937 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)