ENSMUSG00000006457


Mus musculus

Features
Gene ID: ENSMUSG00000006457
  
Biological name :Actn3
  
Synonyms : Actn3 / Alpha-actinin-3 / O88990
  
Possible biological names infered from orthology : actinin alpha 3 (gene/pseudogene) / Q08043
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: A
Gene start: 4861223
Gene end: 4877909
  
Corresponding Affymetrix probe sets: 10464836 (MoGene1.0st)   1418677_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000006626
NCBI entrez gene - 11474     See in Manteia.
MGI - MGI:99678
RefSeq - NM_013456
RefSeq Peptide - NP_038484
swissprot - O88990
Ensembl - ENSMUSG00000006457
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 actn3aENSDARG00000013755Danio rerio
 actn3bENSDARG00000001431Danio rerio
 ACTN3ENSG00000248746Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Actn2 / Q9JI91 / Alpha-actinin-2 / P35609* / actinin alpha 2*ENSMUSG0000005237480
Actn1 / Q7TPR4 / Mus musculus actinin, alpha 1 (Actn1), transcript variant 2, mRNA. / P12814* / actinin alpha 1*ENSMUSG0000001514377
Actn4 / P57780 / Alpha-actinin-4 / O43707* / actinin alpha 4*ENSMUSG0000005480874
Q62261 / Sptbn1 / Spectrin beta chain, non-erythrocytic 1 / Q01082* / spectrin beta, non-erythrocytic 1*ENSMUSG0000002031530
Sptbn4 / spectrin beta, non-erythrocytic 4 / Q9H254*ENSMUSG0000001175130
Sptb / spectrin beta, erythrocytic / P11277*ENSMUSG0000002106129
Sptbn2 / spectrin beta, non-erythrocytic 2 / O15020*ENSMUSG0000006788929
P16546 / Sptan1 / Spectrin alpha chain, non-erythrocytic 1 / Q13813* / spectrin alpha, non-erythrocytic 1*ENSMUSG0000005773818
Spta1 / P08032 / Spectrin alpha chain, erythrocytic 1 / P02549* / spectrin alpha, erythrocytic 1*ENSMUSG0000002653216


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002017  Spectrin repeat
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR014837  EF-hand, Ca insensitive
 IPR018159  Spectrin/alpha-actinin
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006936 muscle contraction IDA
 biological_processGO:0014728 regulation of the force of skeletal muscle contraction IMP
 biological_processGO:0014732 skeletal muscle atrophy IMP
 biological_processGO:0014883 transition between fast and slow fiber IMP
 biological_processGO:0014894 response to denervation involved in regulation of muscle adaptation IMP
 biological_processGO:0031448 positive regulation of fast-twitch skeletal muscle fiber contraction IMP
 biological_processGO:0045820 negative regulation of glycolytic process IMP
 biological_processGO:0048633 positive regulation of skeletal muscle tissue growth IMP
 biological_processGO:0048743 positive regulation of skeletal muscle fiber development IMP
 biological_processGO:0060349 bone morphogenesis IMP
 biological_processGO:0070885 negative regulation of calcineurin-NFAT signaling cascade IMP
 biological_processGO:0090257 regulation of muscle system process IMP
 biological_processGO:0090324 negative regulation of oxidative phosphorylation IMP
 biological_processGO:1900159 positive regulation of bone mineralization involved in bone maturation IMP
 biological_processGO:1901078 negative regulation of relaxation of muscle IMP
 biological_processGO:1903715 regulation of aerobic respiration IMP
 biological_processGO:1904025 positive regulation of glucose catabolic process to lactate via pyruvate IMP
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005865 striated muscle thin filament TAS
 cellular_componentGO:0005903 brush border IDA
 cellular_componentGO:0030017 sarcomere IDA
 cellular_componentGO:0030018 Z disc IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030674 protein binding, bridging TAS
 molecular_functionGO:0042803 protein homodimerization activity TAS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051015 actin filament binding TAS


Pathways (from Reactome)
Pathway description
Striated Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0003060 increased aerobic running capacity "greater ability to run at defined speeds and/or distances compared to controls" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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