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ACTN3 Gene

protein-coding   GIFtS: 63

GC11P066070
actinin, alpha 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
MGC117002 2
MGC117005 2
Descriptions
Alpha-actinin skeletal muscle isoform 3 3
F-actin cross-linking protein 3
actinin, alpha 3 2
External Ids
HGNC: 1651
Entrez Gene: 892
UniProtKB: Q080433
Ensembl: ENSG000002046337
Search outside databases for aliases for ACTN3 gene

Previous GC identifers: GC11P068848 GC11P067996 GC11P066564 GC11P066089

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for ACTN3:
Alpha-actinin is an actin-binding protein with multiple roles in different cell types. This gene
expression is limited to skeletal muscle. It is localized to the Z-disc and analogous dense
bodies, where it helps to anchor the myofibrillar actin filaments [provided by RefSeq]

UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043
Function: 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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ACTN3 gene  

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13-q14

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

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P066070:     (about GC identifiers)

Start:
66,070,967 bp from pter
End:
66,087,373 bp from pter
Size:
16,407 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000011.8  NT_033903.7  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043 (See protein sequence)
Recommended Name: Alpha-actinin-3  
Size: 901 amino acids; 103241 Da
Subunit: Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1
Sequence caution: 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;
PDB structure from and Proteopedia :
1TJT (3D)    1WKU (3D)    
Secondary accessions: A6NP77 Q4KKV2

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001095.1  

    ENSEMBL proteins: 
    ENSP00000366035 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ACTN3)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005884 actin filament TAS1339456
    GO:0005925 focal adhesion IMP16807302
    GO:0031143 pseudopodium TAS1629252
    About this table

    Antibodies for ACTN3: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ACTN3
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (ACTN3), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibody for ACTN3

    Assays for ACTN3: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    4 InterPro domains/families:
     IPR014837 EF-hand_Ca_insen
     IPR002017 Spectrin_repeat
     IPR001715 Calponin_act_bd
     IPR018249 EF_HAND_2


       GeneDecks  ACTN3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q08043

    ProtoNet protein and cluster: Q08043

    3 Blocks protein families:
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043
    Similarity: Belongs to the alpha-actinin family
    Similarity: Contains 1 actin-binding domain
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 4 spectrin repeats

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ACTN3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ACTN3)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001104

                  Applied Biosystems Silencer® siRNAs for ACTN3

                  Sigma-Aldrich siRNA for ACTN3  
                         Sigma-Aldrich shRNA for ACTN3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001104
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001104
                                     untagged cDNA clone in CMV expression vector: NM_001104 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001104

    UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043
    Function: F-actin cross-linking protein which is thought to anchor actin to a variety of
    intracellular structures. This is a bundling protein

    Genatlas biochemistry entry for ACTN3:
    actinin,alpha 3,actin filament cross-linking,calcium insensitive,expressed in skeletal muscle,type
    2 (fast) fibres

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Actn3):

    homeostasis/metabolismmuscle

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779 actin binding IEA--
    GO:0005178 integrin binding TAS8104223
    GO:0005509 calcium ion binding IEA--
    GO:0005515 protein binding IPI11171996
    GO:0008307 structural constituent of muscle TAS1339456
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for ACTN3 (Maps provided by GeneGo):
     Putative integrins pathway. Part 1

       GeneDecks  ACTN3 for the pathways selected above  
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    5 Millipore Pathways for ACTN3
     Cell adhesion Integrin-mediated cell adhesion and migration
     Cytoskeleton remodeling Integrin outside-in signaling
     Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
     Cell adhesion Endothelial cell contacts by junctional mechanisms
     Cell adhesion Endothelial cell contacts by non-junctional mechanisms

       GeneDecks  ACTN3 for the pathways selected above  
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    5 Sigma-Aldrich "Your Favorite Gene" Pathways for  ACTN3  (Your Favorite Gene powered by Ingenuity) 
     Leukocyte Extravasation Signaling
     Germ Cell-Sertoli Cell Junction Signaling
     Actin Cytoskeleton Signaling
     VEGF Signaling
     Integrin Signaling

       GeneDecks  ACTN3 for the pathways selected above  
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    5/6 Kegg Pathways  (Kegg details for ACTN3) (see all 6 ):
     hsa04510 Focal adhesion
     hsa04520 Adherens junction
     hsa04530 Tight junction
     hsa04670 Leukocyte transendothelial migration
     hsa04810 Regulation of actin cytoskeleton

       GeneDecks  ACTN3 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  ACTN3 


    1 Interacting protein for ACTN3 (Q080432) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --Q930032MINT-18039 MINT-18038 MINT-18037
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042981 regulation of apoptosis NAS16807302
    GO:0048041 focal adhesion formation IMP16807302
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ACTN3
    1 Novoseek chemical compound relationship for ACTN3 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0.00 2 1339456 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ACTN3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ACTN3)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001104

                  Sigma-Aldrich siRNA for ACTN3  
                         Sigma-Aldrich shRNA for ACTN3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001104  

    REFSEQ mRNAs for ACTN3 gene: 

    NM_001104.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001104  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001104
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001104
                                     untagged cDNA clone in CMV expression vector: NM_001104 

    Additional cDNA sequence: 

    AK125851.1 AK303044.1 AK313556.1 BC096323.2 BC099647.3 BC099648.1 BC099649.3 M86407.1 

    6 DOTS entries:

    DT.309857  DT.120710797  DT.91926044  DT.120710710  DT.40245906  DT.75155085 

    24/33 AceView cDNA sequences (see all 33 ):

    F32349 AA196000 T29827 M86407 AJ571886 BQ575174 AA196115 F18712 
    AI224547 F21130 AJ346025 NM_001104 F33937 AJ346065 AL598669 AK125851 
    AL598649 F17757 CD610740 CD610746 CD610738 CD610745 BX117834 CD610744 

    highest scoring ESTs for ACTN3:

    M86407 AA196000 AA196115 AJ346025 AJ346065 AJ571886 AJ574558 AW951618 BQ575174 F17757 

    Unigene Cluster for ACTN3:

    Actinin, alpha 3
    Hs.654432  [show with all ESTs]
    Unigene Representative Sequence: AK125851


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000376839  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ACTN3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ACTN3

    1 / 2 / 3

    3 probe-sets matching ACTN3 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    34499_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M86407 1.00 1.00 1.00 1

    206891_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001104 0.60 1.00 0.82 1

    206891_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ACTN3 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.654432

    Expression variation in blood from EXPOLDB for ACTN3

    UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043
    Tissue specificity: Expressed only in a subset of type 2 skeletal muscle fibers

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ACTN3 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ACTN31   -- actinin, alpha 3 92.12(n)
    97.11(a)
    483707  XM_540828.2  XP_540828.2 
    cow
    (Bos taurus)
    ACTN31   -- actinin, alpha 3 92.19(n)
    97.11(a)
    539375  NM_001076157.1  NP_001069625.1 
    rat
    (Rattus norvegicus)
    Actn31   -- actinin alpha 3 89.56(n)
    97.44(a)
    171009  NM_133424.1  NP_596915.1 
    mouse
    (Mus musculus)
    Actn31, 5 19 (3.00 cM)5
    actinin alpha 31, 5 89.52(n)1
    97.56(a)1
    114741  NM_013456.11  NP_038484.11 
     AF0937755  AK1347575  (see all 8)
    zebrafish
    (Danio rerio)
    Dr.50662   -- Danio rerio alpha-actinin mRNA, complete cds 80.35(n)  AF524840.1 
    About this table        Species with no ortholog for ACTN3

    ENSEMBL Gene Tree for ACTN3
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ACTN3 gene
    ACTN22  ACTN42  ACTN12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043
    Polymorphism: 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


    10/95 NCBI SNPs in ACTN3 are shown (see all 95 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 49)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs5408741,2
    A,C,F,H,O66086308(-) CATTCC/TGCTTC 1 R/Q mis120Minor allele frequency- G:0.01NA MN EA EU WA 3090
    rs18157391,2
    A,C,F,H66084671(+) CTGACC/TGAGAG 1 R/X non1 ese35Minor allele frequency- T:0.34EU EA WA MN 462
    rs6188381,2
    A,C,F,H66085295(+) CCAGCC/TGTGAC 1 R/C mis1 ese39Minor allele frequency- T:0.47MN EA EU WA NA 2178
    rs16710641,2
    C,F,H,O66084249(-) GCAGCT/CGGTCA 1 R/Q mis1 ese314Minor allele frequency- C:0.38MN NA EU EA WA 1336
    --
    rs22294561,2
    C,F,H66085317(+) GGAGGA/CGCTGG 1 E/A mis113Minor allele frequency- N:0.00MN EU EA WA NA 1080
    rs22294551,2
    C,F66084631(+) CTGACA/GGCGCA 1 T/T syn1 ese32Minor allele frequency- G:0.12MN NA 100
    rs6774881,2
    A,C,F,H66081338(-) CTTGGA/GGTTAG 1 -- int114Minor allele frequency- G:0.42EA NA EU WA 1070
    --
    rs5976261,2
    A,C,F,H66073133(-) GCAGGG/AGCCAG 1 -- int15Minor allele frequency- A:0.47MN EU EA WA 594
    rs5095561,2
    A,C,F,H66082938(-) AACAAC/TGAATG 1 -- int113Minor allele frequency- T:0.45EA NA EU WA 2624
    rs17916901,2
    A,C,F,H66074399(+) GTGTCG/ATGTCA 1 -- int113Minor allele frequency- A:0.47MN EU EA WA NA 1293
    About this table

    HapMap Linkage Disequilibrium images for ACTN3 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 102574

    1 Novoseek disease relationship for ACTN3 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 35.63 3 9309713 (1), 8887951 (1)
    About this table

    Human Gene Mutation Database: ACTN3
    Genetic Association Database: ACTN3
    Human Genome Epidemiology Navigator: ACTN3 (28 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/60 PubMed articles for ACTN3 gene (see all 60 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 89 HGNC: 165 AceView: ACTN3 Ensembl:ENSG00000204633 euGenes: HUgn89
    ECgene: ACTN3 H-InvDB: ACTN3
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ACTN3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for ACTN3 Antibodies for ACTN3
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for ACTN3 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for ACTN3

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