AutismKB 2.0

Annotation Details for ACSM1


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Basic Information Top
Gene Symbol:ACSM1 ( BUCS1,MACS1,MGC150532 )
Gene Full Name: acyl-CoA synthetase medium-chain family member 1
Band: 16p12.3
Quick LinksEntrez ID:116285; OMIM: NA; Uniprot ID:ACSM1_HUMAN; ENSEMBL ID: ENSG00000166743; HGNC ID: 18049
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005759IDA-mitochondrial matrix11470804
GO:0005759TAS-mitochondrial matrix-
GO:0070062IDA-extracellular exosome19056867
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0003996IDA-acyl-CoA ligase activity11470804
GO:0004321IBA-fatty-acyl-CoA synthase activity-
GO:0005524IEA-ATP binding-
GO:0005525IEA-GTP binding-
GO:0015645IBA-fatty acid ligase activity-
GO:0016405TAS-CoA-ligase activity-
GO:0046872IEA-metal ion binding-
GO:0047760IDA-butyrate-CoA ligase activity11470804
GO ID Evidence Qualifier GO_term References
GO:0006633IBA-fatty acid biosynthetic process-
GO:0006637IBA-acyl-CoA metabolic process-
GO:0006805TAS-xenobiotic metabolic process-
GO:0015980NAS-energy derivation by oxidation of organic compounds11470804
GO:0018874NAS-benzoate metabolic process11470804
GO:0019395NAS-fatty acid oxidation11470804
GO:0019605NAS-butyrate metabolic process11470804
GO:0042632NAS-cholesterol homeostasis15361761
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
ACSM1rs433598 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:2152200
  • 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