AutismKB 2.0

Annotation Details for ACTC1


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Basic Information Top
Gene Symbol:ACTC1 ( ACTC,ASD5,CMD1R,CMH11,LVNC4 )
Gene Full Name: actin, alpha, cardiac muscle 1
Band: 15q14
Quick LinksEntrez ID:70; OMIM: 102540; Uniprot ID:ACTC_HUMAN; ENSEMBL ID: ENSG00000159251; HGNC ID: 143
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615IDA-extracellular space22664934
GO:0005737IDA-cytoplasm20962418
GO:0005829TAS-cytosol-
GO:0005884IDA-actin filament16611632
GO:0005925IDA-focal adhesion21423176
GO:0016020IDA-membrane19946888
GO:0030017IDA-sarcomere16288873
GO:0030027ISS-lamellipodium-
GO:0030175ISS-filopodium-
GO:0031674ISS-I band-
GO:0042643IDA-actomyosin, actin portion16611632
GO:0044297ISS-cell body-
GO:0070062IDA-extracellular exosome21362503
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0005524IDA-ATP binding16611632
GO:0016887IDA-ATPase activity16611632
GO:0017022IDA-myosin binding19799913
GO:0017022IPI-myosin binding16611632
GO ID Evidence Qualifier GO_term References
GO:0006915ISS-apoptotic process-
GO:0010628ISS-positive regulation of gene expression-
GO:0030048IDA-actin filament-based movement16611632
GO:0030049TAS-muscle filament sliding-
GO:0030240ISS-skeletal muscle thin filament assembly-
GO:0031032ISS-actomyosin structure organization-
GO:0033275IMP-actin-myosin filament sliding19799913
GO:0042493IEA-response to drug-
GO:0043066IEA-negative regulation of apoptotic process-
GO:0045471IEA-response to ethanol-
GO:0055003ISS-cardiac myofibril assembly-
GO:0055008ISS-cardiac muscle tissue morphogenesis-
GO:0060047IMP-heart contraction9563954
GO:0060048IEA-cardiac muscle contraction-
GO:0090131ISS-mesenchyme migration-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SYNE2ACTC110658512118075 Reconstituted Complex
SYNE2ACTC111683012118075 Reconstituted Complex
AFAP1ACTC112189512134071 Reconstituted Complex
AFAP1ACTC110658512134071 Reconstituted Complex
TNNI3KACTC111927612721663 Two-hybrid
TNNI3KACTC110658512721663 Two-hybrid
ABLIM3ACTC111655215337165 Affinity Capture-Western
ABLIM3ACTC110658515337165 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:87905
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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