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    ACTN3 actinin alpha 3 (gene/pseudogene) [ Homo sapiens (human) ]

    Gene ID: 89, updated on 23-Apr-2016
    Official Symbol
    ACTN3provided by HGNC
    Official Full Name
    actinin alpha 3 (gene/pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:165
    See related
    Ensembl:ENSG00000248746 HPRD:02148; MIM:102574; Vega:OTTHUMG00000160815
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
    Orthologs
    Location:
    11q13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (66546395..66563329)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66314312..66330799)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379405 Neighboring gene dipeptidyl peptidase 3 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    NHGRI GWA Catalog
    • Adherens junction, organism-specific biosystem (from KEGG)
      Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junction, conserved biosystem (from KEGG)
      Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
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    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
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    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
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    • Muscle contraction, organism-specific biosystem (from REACTOME)
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    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
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    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • MGC117002, MGC117005

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    integrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    negative regulation of calcineurin-NFAT signaling cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of glycolytic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of oxidative phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of glucose catabolic process to lactate via pyruvate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of skeletal muscle tissue growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of aerobic respiration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of the force of skeletal muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to denervation involved in regulation of muscle adaptation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle atrophy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transition between fast and slow fiber ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    actin filament TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pseudopodium TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    alpha-actinin-3
    Names
    F-actin cross-linking protein
    actinin, alpha 3
    alpha-actinin skeletal muscle

    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.

    Genomic

    1. NG_013304.2 RefSeqGene

      Range
      4922..21410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001104.3NP_001095.2  alpha-actinin-3 isoform 1

      See identical proteins and their annotated locations for NP_001095.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, coding) represents the protein-coding allele and encodes isoform 1.
      Source sequence(s)
      AJ346025, AK125851, AK303044, AP002748, BC099647, DA915904
      UniProtKB/Swiss-Prot
      Q08043
      UniProtKB/TrEMBL
      B4DZQ2
      Related
      ENSP00000426797, OTTHUMP00000219049, ENST00000513398, OTTHUMT00000362453
      Conserved Domains (5) 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; ...
      pfam08726
      Location:831897
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:772825
      EF-hand_7; EF-hand domain pair
    2. NM_001258371.2NP_001245300.2  alpha-actinin-3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AJ346025, AK303044, AP002748, BC099647
      Consensus CDS
      CCDS76439.1
      UniProtKB/Swiss-Prot
      Q08043
      UniProtKB/TrEMBL
      A0A087WSZ2, B4DZQ2
      Related
      ENSP00000422007, OTTHUMP00000219054, ENST00000502692, OTTHUMT00000362465
      Conserved Domains (6) summary
      cd00014
      Location:202307
      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:807869
      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:452679
      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:331440
      Spectrin; Spectrin repeat
      pfam08726
      Location:874940
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:815868
      EF-hand_7; EF-hand domain pair

    RNA

    1. NR_047663.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, non-coding) represents the non-protein coding allele.
      Source sequence(s)
      AJ346025, AK125851, AL043389, AMYH02024979, AP002748, BC099647, BQ575174, BU732652, CX787471, DA827389, DA915904

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      66546395..66563329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      66197591..66214533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)