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Aliases for ACTN3 Gene

Aliases for ACTN3 Gene

  • Actinin, Alpha 3 (Gene/Pseudogene) 2 3
  • F-Actin Cross-Linking Protein 3 4
  • Alpha-Actinin Skeletal Muscle Isoform 3 4
  • Alpha-Actinin Skeletal Muscle 3
  • Actinin, Alpha 3 2
  • Alpha-Actinin-3 3

External Ids for ACTN3 Gene

Previous GeneCards Identifiers for ACTN3 Gene

  • GC11P068848
  • GC11P067996
  • GC11P066089
  • GC11P066070
  • GC11P066314
  • GC11P062643

Summaries for ACTN3 Gene

Entrez Gene Summary for ACTN3 Gene

  • 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]

GeneCards Summary for ACTN3 Gene

ACTN3 (Actinin, Alpha 3 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with ACTN3 include mcardle disease and dystrophinopathies. Among its related pathways are Regulation of actin cytoskeleton and ERK Signaling. GO annotations related to this gene include calcium ion binding and actin binding.

UniProtKB/Swiss-Prot for ACTN3 Gene

  • F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein

Gene Wiki entry for ACTN3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTN3 Gene

Genomics for ACTN3 Gene

Regulatory Elements for ACTN3 Gene

Genomic Location for ACTN3 Gene

Start:
66,546,395 bp from pter
End:
66,563,329 bp from pter
Size:
16,935 bases
Orientation:
Plus strand

Genomic View for ACTN3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACTN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTN3 Gene

Proteins for ACTN3 Gene

  • Protein details for ACTN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08043-ACTN3_HUMAN
    Recommended name:
    Alpha-actinin-3
    Protein Accession:
    Q08043
    Secondary Accessions:
    • A6NP77
    • Q4KKV2

    Protein attributes for ACTN3 Gene

    Size:
    901 amino acids
    Molecular mass:
    103241 Da
    Quaternary structure:
    • Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1.
    SequenceCaution:
    • Sequence=AP002748; Type=Miscellaneous discrepancy; Note=According to the human genome assembly there is a stop codon in position 577 which is only found in 18% of the world population.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACTN3 Gene

neXtProt entry for ACTN3 Gene

Proteomics data for ACTN3 Gene at MOPED

Post-translational modifications for ACTN3 Gene

  • Ubiquitination at Lys49
  • Modification sites at PhosphoSitePlus

Other Protein References for ACTN3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTN3 Gene

Domains for ACTN3 Gene

Suggested Antigen Peptide Sequences for ACTN3 Gene

Graphical View of Domain Structure for InterPro Entry

Q08043

UniProtKB/Swiss-Prot:

ACTN3_HUMAN :
  • Q08043
Domain:
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 2 EF-hand domains.
Family:
  • Belongs to the alpha-actinin family.
Similarity:
  • Contains 4 spectrin repeats.
genes like me logo Genes that share domains with ACTN3: view

No data available for Gene Families for ACTN3 Gene

Function for ACTN3 Gene

Molecular function for ACTN3 Gene

GENATLAS Biochemistry: actinin,alpha 3,actin filament cross-linking,calcium insensitive,expressed in skeletal muscle,type 2 (fast) fibres
UniProtKB/Swiss-Prot Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein

Gene Ontology (GO) - Molecular Function for ACTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005178 integrin binding TAS 8104223
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 11171996
GO:0008307 structural constituent of muscle TAS 1339456
genes like me logo Genes that share ontologies with ACTN3: view

Phenotypes for ACTN3 Gene

MGI mutant phenotypes for ACTN3:
inferred from 1 alleles
GenomeRNAi human phenotypes for ACTN3:
genes like me logo Genes that share phenotypes with ACTN3: view

Animal Models for ACTN3 Gene

MGI Knock Outs for ACTN3:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACTN3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for ACTN3 Gene

Localization for ACTN3 Gene

Gene Ontology (GO) - Cellular Components for ACTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005884 actin filament TAS 1339456
GO:0005925 focal adhesion IMP 16807302
GO:0030017 sarcomere --
GO:0030018 Z disc --
genes like me logo Genes that share ontologies with ACTN3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for ACTN3 Gene

Pathways for ACTN3 Gene

genes like me logo Genes that share pathways with ACTN3: view

PCR Array Products

Interacting Proteins for ACTN3 Gene

Gene Ontology (GO) - Biological Process for ACTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction --
GO:0030049 muscle filament sliding TAS --
GO:0042981 regulation of apoptotic process NAS 16807302
GO:0048041 focal adhesion assembly IMP 16807302
genes like me logo Genes that share ontologies with ACTN3: view

Compounds for ACTN3 Gene

(1) Novoseek inferred chemical compound relationships for ACTN3 Gene

Compound -log(P) Hits PubMed IDs
calcium 0 1
genes like me logo Genes that share compounds with ACTN3: view

Transcripts for ACTN3 Gene

mRNA/cDNA for ACTN3 Gene

Unigene Clusters for ACTN3 Gene

Actinin, alpha 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACTN3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ACTN3
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTN3 Gene

No ASD Table

Relevant External Links for ACTN3 Gene

GeneLoc Exon Structure for
ACTN3
ECgene alternative splicing isoforms for
ACTN3

Expression for ACTN3 Gene

mRNA expression in normal human tissues for ACTN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTN3 Gene

This gene is overexpressed in Muscle - Skeletal (50.6).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ACTN3 Gene

SOURCE GeneReport for Unigene cluster for ACTN3 Gene Hs.654432

mRNA Expression by UniProt/SwissProt for ACTN3 Gene

Q08043-ACTN3_HUMAN
Tissue specificity: Expressed only in a subset of type 2 skeletal muscle fibers.
genes like me logo Genes that share expressions with ACTN3: view

In Situ Assay Products

Orthologs for ACTN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACTN3 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Actn3 16
zebrafish
(Danio rerio)
Actinopterygii Dr.5066 35
fruit fly
(Drosophila melanogaster)
Insecta Actn 37
  • 66 (a)
Species with no ortholog for ACTN3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACTN3 Gene

ENSEMBL:
Gene Tree for ACTN3 (if available)
TreeFam:
Gene Tree for ACTN3 (if available)

Paralogs for ACTN3 Gene

Selected SIMAP similar genes for ACTN3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ACTN3: view

No data available for Paralogs for ACTN3 Gene

Variants for ACTN3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ACTN3 Gene

Q08043-ACTN3_HUMAN
About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577. The absence of a functional ACTN3 expression is not correlated with a disease state [MIM:102574]

Sequence variations from dbSNP and Humsavar for ACTN3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs490998 -- 66,551,501(+) CTTTG(A/G)CCCTT intron-variant
rs509556 -- 66,558,891(-) AACAA(C/T)GAATG intron-variant
rs531490 -- 66,556,889(-) cagct(A/C/G)cctgg intron-variant
rs538330 -- 66,552,367(-) tttga(A/G)acgga intron-variant
rs540874 - 66,562,261(-) CATTC(C/T)GCTTC reference, missense, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ACTN3 Gene

Variant ID Type Subtype PubMed ID
dgv1187n71 CNV Loss 21882294
nsv522277 CNV Loss 19592680
nsv897787 CNV Loss 21882294
nsv897788 CNV Loss 21882294
esv2744639 CNV Deletion 23290073

Relevant External Links for ACTN3 Gene

HapMap Linkage Disequilibrium report
ACTN3
Human Gene Mutation Database (HGMD)
ACTN3

Disorders for ACTN3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for ACTN3 Gene including...

Search for ACTN3 Gene in MalaCards »

(1) Novoseek inferred disease relationships for ACTN3 Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophies 31.6 2

Relevant External Links for ACTN3

Genetic Association Database (GAD)
ACTN3
Human Genome Epidemiology (HuGE) Navigator
ACTN3
genes like me logo Genes that share disorders with ACTN3: view

No data available for UniProtKB/Swiss-Prot for ACTN3 Gene

Publications for ACTN3 Gene

  1. Cloning and characterization of two human skeletal muscle alpha- actinin genes located on chromosomes 1 and 11. (PMID: 1339456) Beggs A.H. … Kunkel L.M. (J. Biol. Chem. 1992) 2 3 4 23
  2. ACTN3 genotype is associated with human elite athletic performance. (PMID: 12879365) Yang N. … North K. (Am. J. Hum. Genet. 2003) 3 23 48
  3. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. (PMID: 10192379) North K.N. … Beggs A.H. (Nat. Genet. 1999) 3 4 23
  4. Differential expression of the actin-binding proteins, alpha-actinin- 2 and -3, in different species: implications for the evolution of functional redundancy. (PMID: 11440986) Mills M. … North K.N. (Hum. Mol. Genet. 2001) 3 4 23
  5. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. (PMID: 15718405) Clarkson P.M. … Hoffman E.P. (J. Appl. Physiol. 2005) 3 23 48

Products for ACTN3 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ACTN3
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ACTN3
    • Block miRNA regulation of ACTN3 using miScript Target Protectors
    • Addgene plasmids for ACTN3

    Sources for ACTN3 Gene

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