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Aliases for ACTN3 Gene

Aliases for ACTN3 Gene

  • Actinin Alpha 3 (Gene/Pseudogene) 2 3
  • Alpha-Actinin Skeletal Muscle Isoform 3 4
  • Actinin, Alpha 3 (Gene/Pseudogene) 5
  • F-Actin Cross-Linking Protein 4
  • Actinin, Alpha 3 2

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. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Cardiac conduction. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is SYNE2.

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

Promoters for ACTN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACTN3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACTN3 Gene

Chromosome:
11
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

Genes around ACTN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTN3 Gene

Antibody Products

No data available for DME Specific Peptides for ACTN3 Gene

Domains & Families for ACTN3 Gene

Gene Families for ACTN3 Gene

Suggested Antigen Peptide Sequences for ACTN3 Gene

Graphical View of Domain Structure for InterPro Entry

Q08043

UniProtKB/Swiss-Prot:

ACTN3_HUMAN :
  • Contains 1 actin-binding domain.
  • Belongs to the alpha-actinin family.
  • Contains 4 spectrin repeats.
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

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:0042803 protein homodimerization activity TAS 15841212
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with ACTN3: view

Phenotypes for ACTN3 Gene

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

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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:0005903 brush border IEA --
GO:0005925 focal adhesion IMP 16807302
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 & Interactions for ACTN3 Gene

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

Interacting Proteins for ACTN3 Gene

Gene Ontology (GO) - Biological Process for ACTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014728 regulation of the force of skeletal muscle contraction ISS --
GO:0014732 skeletal muscle atrophy ISS --
GO:0031448 positive regulation of fast-twitch skeletal muscle fiber contraction IEA --
GO:0045820 negative regulation of glycolytic process ISS --
GO:0048041 focal adhesion assembly IMP 16807302
genes like me logo Genes that share ontologies with ACTN3: view

No data available for SIGNOR curated interactions for ACTN3 Gene

Drugs & Compounds for ACTN3 Gene

(1) Drugs for ACTN3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

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 (x50.6).

Protein differential expression in normal tissues from HIPED for ACTN3 Gene

This gene is overexpressed in Ovary (46.3), Heart (6.6), and Fetal heart (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ACTN3: view

Protein tissue co-expression partners for ACTN3 Gene

Primer Products

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
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)
  • mouse (Mus musculus)
  • 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

(16) SIMAP similar genes for ACTN3 Gene using alignment to 4 proteins:

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

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
rs1671064 - 66,560,202(-) GCAGC(C/T)GGTCA nc-transcript-variant, reference, missense
rs2229456 - 66,561,270(+) GGAGG(A/C/T)GCTGG nc-transcript-variant, reference, missense
rs618838 - 66,561,248(+) CCAGC(C/T)GTGAC nc-transcript-variant, reference, missense
rs540874 - 66,562,261(-) CATTC(C/T)GCTTC nc-transcript-variant, reference, missense
rs490998 -- 66,551,501(+) CTTTG(A/G)CCCTT intron-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

No data available for Variation tolerance for ACTN3 Gene

Disorders for ACTN3 Gene

Relevant External Links for ACTN3

Genetic Association Database (GAD)
ACTN3
Human Genome Epidemiology (HuGE) Navigator
ACTN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACTN3

No disorders were found for ACTN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. (PMID: 20010124) Scott R.A. … Pitsiladis Y.P. (Med Sci Sports Exerc 2010) 3 23
  3. ACE I/D and ACTN3 R/X polymorphisms and muscle function and muscularity of older Caucasian men. (PMID: 20069311) McCauley T. … Folland J.P. (Eur. J. Appl. Physiol. 2010) 3 23
  4. Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. (PMID: 20089531) Quinlan K.G. … North K.N. (Hum. Mol. Genet. 2010) 3 23
  5. ACTN3 polymorphism affects thigh muscle area. (PMID: 20222007) Zempo H. … Kuno S. (Int J Sports Med 2010) 3 23

Products for ACTN3 Gene

Sources for ACTN3 Gene

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