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Aliases & Descriptions for ACTN3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| MGC117002 2 | | MGC117005 2 |
| | | Descriptions |
|---|
| Alpha-actinin skeletal muscle isoform 3 3 | | F-actin cross-linking protein 3 | | actinin, alpha 3 2 |
|
| | Search outside databases for aliases for ACTN3 genePrevious GC identifers: GC11P068848 GC11P067996 GC11P066564 GC11P066089 |
Summaries for ACTN3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, Q08043Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling proteinGene Wiki entry for ACTN3 |
Genomic Location 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-q14ACTN3 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
| Proteins for ACTN3
(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)
About This Section
| 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 Q4KKV2Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001095.1
ENSEMBL proteins: ENSP00000366035
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): About this table
Antibodies for ACTN3: Assays for ACTN3: | Protein
Domains/ Families for ACTN3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q08043Similarity: Belongs to the alpha-actinin familySimilarity: Contains 1 actin-binding domainSimilarity: Contains 2 CH (calponin-homology) domainsSimilarity: Contains 2 EF-hand domainsSimilarity: Contains 4 spectrin repeats | Gene Function for ACTN3
(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
|               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 
              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, Q08043Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling proteinGenatlas biochemistry entry for ACTN3:actinin,alpha 3,actin filament cross-linking,calcium insensitive,expressed in skeletal muscle,type 2 (fast) fibres2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Actn3):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for ACTN3
(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
|
5 Sigma-Aldrich "Your Favorite Gene" Pathways for ACTN3 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for ACTN3 
1 Interacting protein for ACTN3 (Q080432) via UniProtKB, MINT, and/or STRINGAbout this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for ACTN3(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 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
|
Transcripts for ACTN3(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
|               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
|
Expression for ACTN3
(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 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, Q08043Tissue specificity: Expressed only in a subset of type 2 skeletal muscle fibers |
Orthologs for ACTN3
(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
)
About this table Species with no ortholog for ACTN3
ENSEMBL Gene Tree for ACTN3 | Paralogs for ACTN3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ACTN3 gene
- ACTN22 ACTN42 ACTN12
|
SNPs/Variants for ACTN3(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, Q08043Polymorphism: 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
HapMap Linkage Disequilibrium images for ACTN3 (up to first 250kb)
|
Disorders & Mutations for ACTN3
(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
About this table
Human Gene Mutation Database: ACTN3 Genetic Association Database: ACTN3 Human Genome Epidemiology Navigator: ACTN3 (28 documents)
|
Medical News for ACTN3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ACTN3 (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
):- Cloning and characterization of two human skeletal muscle alpha- actinin genes located on chromosomes 1 and 11. (PubMed id 1339456)1, 2, 3, 4 Beggs A.H....Kunkel L.M. (1992)
- Differential expression of the actin-binding proteins, alpha-actinin- 2 and -3, in different species: implications for the evolution of functional redundancy. (PubMed id 11440986)1, 3, 4 Mills M.... North K.N. (2001)
- ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. (PubMed id 15718405)1, 3, 6 Clarkson P.M....Hoffman E.P. (2005)
- ACTN3 genotype is associated with human elite athletic performance. (PubMed id 12879365)1, 3, 6 Yang N....North K. (2003)
- ACTN3 and MLCK genotype associations with exertional muscle damage. (PubMed id 15817725)1, 3, 6 Clarkson P.M....Devaney J.M. (2005)
- A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. (PubMed id 10192379)1, 3, 4 North K.N....Beggs A.H. (1999)
- The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin. (PubMed id 15808860)1, 3, 4 Franzot G.... Djinovic Carugo K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. (PubMed id 11171996)3, 4 Takada F.... Beggs A.H. (2001)
- Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. (PubMed id 19150855)1, 3 Norman B....Tesch P.A. (2009)
|
Search for ACTN3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ACTN3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ACTN3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ACTN3(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
|
| About This Section
| --
| Services for ACTN3(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:

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