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

Gene ID: 11474, updated on 5-Mar-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
  • 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 (1)  1 citation
  • Endonuclease-mediated (1) 

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 binding IEA
Inferred from Electronic Annotation
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
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 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 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 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)

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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_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)