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

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: human all
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Genomic context

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Absence of the Z-disc protein alpha-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics.
Title: Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics.
Loss of alpha-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.
Title: Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.
Differential regulation of Actn2 and Actn3 expression during unfolded protein response in C2C12 myotubes.
Title: Differential regulation of Actn2 and Actn3 expression during unfolded protein response in C2C12 myotubes.
Loss of alpha-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.
Title: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.
Maintenance of type 2 glycolytic myofibers with age by Mib1-Actn3 axis.
Title: Maintenance of type 2 glycolytic myofibers with age by Mib1-Actn3 axis.
ACTN3 gene dosage in muscle performance was investigated.
Title: The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.
ACTN3 is a genetic modifier of Duchenne muscular dystrophy.
Title: Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.
Actn3 knockout 129X1/SvJ mice gained less weight compared to wild type
Title: Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans.
Actn3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
Title: Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
New insights that have been made in understanding the molecular mechanisms that underlie the consequences of alpha-actinin-3 deficiency.[review]
Title: How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI481912 (e-PCR)
- UniSTS:160778

Actn3 (e-PCR), detects polymorphism
- UniSTS:228476

Actn3 (e-PCR), detects polymorphism
- UniSTS:508357

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

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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)

NM_013456.2 → NP_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:753 → 857

PTZ00184; calmodulin; Provisional

COG5069
Location:42 → 305

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:408 → 635

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:830 → 896

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:287 → 396

Spectrin; Spectrin repeat