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    ACTN3 actinin alpha 3 [ Bos taurus (domestic cattle) ]

    Gene ID: 539375, updated on 29-Jan-2025

    Summary

    Official Symbol
    ACTN3provided by VGNC
    Official Full Name
    actinin alpha 3provided by VGNC
    Primary source
    VGNC:VGNC:53654
    See related
    BGD:BT11670; Ensembl:ENSBTAG00000022244
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ACTN3 in Genome Data Viewer
    Location:
    chromosome: 29
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_12 current ARS-UCD2.0 (GCF_002263795.3) 29 NC_037356.1 (44584938..44596720)

    Chromosome 29 - NC_037356.1Genomic Context describing neighboring genes Neighboring gene Bardet-Biedl syndrome 1 Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene cathepsin F Neighboring gene coiled-coil domain containing 87

    Genomic regions, transcripts, and products

    Genomic Sequence:
    NC_037356.1 Chromosome 29 Reference ARS-UCD2.0 Primary Assembly

    Expression

    • Project title: Dominette sequence data
    • BioProject: PRJNA294306
    • Analysis date: Tue Dec 17 08:57:05 2024

    Pathways from PubChem

    General gene information

    Markers

    Clone Names

    • MGC140041

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    involved_in muscle cell development IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    located_in cortical actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    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)

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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_001076157.1NP_001069625.1  alpha-actinin-3

      See identical proteins and their annotated locations for NP_001069625.1

      Status: PROVISIONAL

      Source sequence(s)
      BC122618
      UniProtKB/Swiss-Prot
      Q0III9
      UniProtKB/TrEMBL
      A0A3Q1M2X5
      Related
      ENSBTAP00070044292.1, ENSBTAT00070072713.1
      Conserved Domains (7) summary
      cd00014
      Location:159264
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:764826
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:409636
      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; ...
      pfam00307
      Location:46144
      CH; Calponin homology (CH) domain
      pfam00435
      Location:288397
      Spectrin; Spectrin repeat
      pfam08726
      Location:831897
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:766825
      EF-hand_7; EF-hand domain pair

    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2024_12

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

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037356.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      44584938..44596720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024987257.2XP_024843025.1  alpha-actinin-3 isoform X1

      UniProtKB/TrEMBL
      A0A3Q1M2X5
      Conserved Domains (5) summary
      COG5069
      Location:43306
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:409636
      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; ...
      pfam00435
      Location:288397
      Spectrin; Spectrin repeat
      pfam08726
      Location:863929
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cl25352
      Location:754890
      EFh_PEF; The penta-EF hand (PEF) family