ENSG00000248746


Homo sapiens

Features
Gene ID: ENSG00000248746
  
Biological name :ACTN3
  
Synonyms : actinin alpha 3 (gene/pseudogene) / ACTN3 / Q08043
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.2
Gene start: 66546395
Gene end: 66563329
  
Corresponding Affymetrix probe sets: 206891_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422007
Ensembl peptide - ENSP00000426797
Ensembl peptide - ENSP00000426236
NCBI entrez gene - 89     See in Manteia.
OMIM - 102574
RefSeq - NM_001258371
RefSeq - NM_001104
RefSeq Peptide - NP_001095
RefSeq Peptide - NP_001245300
swissprot - Q08043
swissprot - D6RH00
swissprot - A0A087WSZ2
Ensembl - ENSG00000248746
  
Related genetic diseases (OMIM): 617749 - [Alpha-actinin-3 deficiency], 617749
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 actn3aENSDARG00000013755Danio rerio
 actn3bENSDARG00000001431Danio rerio
 Actn3ENSMUSG00000006457Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACTN2 / P35609 / actinin alpha 2ENSG0000007752273
ACTN1 / P12814 / actinin alpha 1ENSG0000007211071
ACTN4 / O43707 / actinin alpha 4ENSG0000013040268
Q9NRC6 / SPTBN5 / spectrin beta, non-erythrocytic 5ENSG0000013787731
O15020 / SPTBN2 / spectrin beta, non-erythrocytic 2ENSG0000017389827
Q9H254 / SPTBN4 / spectrin beta, non-erythrocytic 4ENSG0000016046027
Q01082 / SPTBN1 / spectrin beta, non-erythrocytic 1ENSG0000011530627
SPTB / P11277 / spectrin beta, erythrocyticENSG0000007018226
Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1ENSG0000019769417
SPTA1 / P02549 / spectrin alpha, erythrocytic 1ENSG0000016355415


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 IEA
 biological_processGO:0014728 regulation of the force of skeletal muscle contraction ISS
 biological_processGO:0014732 skeletal muscle atrophy ISS
 biological_processGO:0014883 transition between fast and slow fiber ISS
 biological_processGO:0014894 response to denervation involved in regulation of muscle adaptation ISS
 biological_processGO:0030049 muscle filament sliding TAS
 biological_processGO:0031448 positive regulation of fast-twitch skeletal muscle fiber contraction IEA
 biological_processGO:0042981 regulation of apoptotic process NAS
 biological_processGO:0045820 negative regulation of glycolytic process ISS
 biological_processGO:0048041 focal adhesion assembly IMP
 biological_processGO:0048633 positive regulation of skeletal muscle tissue growth ISS
 biological_processGO:0048743 positive regulation of skeletal muscle fiber development IEA
 biological_processGO:0060349 bone morphogenesis IEA
 biological_processGO:0070885 negative regulation of calcineurin-NFAT signaling cascade ISS
 biological_processGO:0090257 regulation of muscle system process IEA
 biological_processGO:0090324 negative regulation of oxidative phosphorylation ISS
 biological_processGO:1900159 positive regulation of bone mineralization involved in bone maturation IEA
 biological_processGO:1901078 negative regulation of relaxation of muscle IEA
 biological_processGO:1903715 regulation of aerobic respiration ISS
 biological_processGO:1904025 positive regulation of glucose catabolic process to lactate via pyruvate ISS
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005884 actin filament TAS
 cellular_componentGO:0005903 brush border IEA
 cellular_componentGO:0005925 focal adhesion IMP
 cellular_componentGO:0030017 sarcomere IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0031143 pseudopodium TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005178 integrin binding TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008307 structural constituent of muscle TAS
 molecular_functionGO:0042803 protein homodimerization activity TAS
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
Nephrin family interactions
Striated Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / complex / reaction
 ENSG00000183853 Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1  / reaction / complex






 

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