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ACSM1 acyl-CoA synthetase medium chain family member 1 [ Homo sapiens (human) ]

Gene ID: 116285, updated on 2-Nov-2024

Summary

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Official Symbol
ACSM1provided by HGNC
Official Full Name
acyl-CoA synthetase medium chain family member 1provided by HGNC
Primary source
HGNC:HGNC:18049
See related
Ensembl:ENSG00000166743 MIM:614357; AllianceGenome:HGNC:18049
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BUCS1; MACS1
Summary
Enables benzoate-CoA ligase activity; decanoate-CoA ligase activity; and long-chain fatty acid-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in prostate (RPKM 1.3), ovary (RPKM 1.3) and 18 other tissues See more
Orthologs
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Genomic context

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See ACSM1 in Genome Data Viewer
Location:
16p12.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20623235..20697680, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20554185..20628601, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20634557..20709002, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:20615165-20616364 Neighboring gene uncharacterized LOC107984831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:20625093-20625592 Neighboring gene acyl-CoA synthetase medium chain family member 5 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:20658967-20659531 Neighboring gene NANOG hESC enhancer GRCh37_chr16:20662170-20662773 Neighboring gene NANOG hESC enhancer GRCh37_chr16:20693644-20694145 Neighboring gene acyl-CoA synthetase medium chain family member 3 Neighboring gene NADH-ubiquinone oxidoreductase chain 5-like Neighboring gene acyl-CoA synthetase medium chain family member 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10538 Neighboring gene THUMP domain containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. An acyl-CoA synthetase gene family in chromosome 16p12 may contribute to multiple risk factors. Iwai N, et al. Hypertension, 2003 May. PMID 12654705
  2. Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population. Li W, et al. Am J Med Genet B Neuropsychiatr Genet, 2015 Mar. PMID 25656805
  3. Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension. Haketa A, et al. J Hypertens, 2004 Oct. PMID 15361761
  4. 15-prostaglandin dehydrogenase expression alone or in combination with ACSM1 defines a subgroup of the apocrine molecular subtype of breast carcinoma. Celis JE, et al. Mol Cell Proteomics, 2008 Oct. PMID 18632593
  5. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. Athanasiu L, et al. J Psychiatr Res, 2010 Sep. PMID 20185149, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These data are the first to suggest a positive association of the ACSM1 gene with a genetic susceptibility for Schizophrenia and major depressive disorder in the Han Chinese population.
    Title: Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
  4. Invasive apocrine carcinomas correspond to a distinct molecular subtype of breast carcinomas characterized by the expression of 15-prostaglandin dehydrogenase alone or in combination with a novel form of acyl-CoA synthetase medium-chain family member 1.
    Title: 15-prostaglandin dehydrogenase expression alone or in combination with ACSM1 defines a subgroup of the apocrine molecular subtype of breast carcinoma.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  6. Single nucleotide polymorphisms(SNP) in exon 8 of A/G polymorphism of MACS1 gene and G/T SNP in intron 3 of SAH gene were associated with plasma levels of plasma HDL cholesterol.
    Title: Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
EBI GWAS Catalog
Genomewide association for schizophrenia in the CATIE study: results of stage 1.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC150532

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables CoA-ligase activity TAS
Traceable Author Statement
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables benzoate-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables decanoate-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables fatty acid ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fatty-acyl-CoA synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables medium-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in benzoate metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in butyrate metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cholesterol homeostasis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in energy derivation by oxidation of organic compounds NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid oxidation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in long-chain fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in blood microparticle HDA PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
acyl-coenzyme A synthetase ACSM1, mitochondrial
Names
Butyrate CoA ligase
benzoate--CoA ligase
butyrate--CoA ligase 1
butyryl Coenzyme A synthetase 1
butyryl-coenzyme A synthetase 1
lipoate-activating enzyme
medium-chain acyl-CoA synthetase
middle-chain acyl-CoA synthetase 1
xenobiotic/medium-chain fatty acid-CoA ligase HXM-B
NP_001305819.1
NP_443188.2
XP_006721079.1
XP_006721080.1
XP_006721081.1
XP_011544031.1
XP_011544032.1
XP_011544033.1
XP_011544034.1
XP_016878403.1
XP_047289537.1
XP_047289538.1
XP_047289539.1
XP_047289540.1
XP_047289541.1
XP_054235498.1
XP_054235499.1
XP_054235500.1
XP_054235501.1
XP_054235502.1
XP_054235503.1
XP_054235504.1
XP_054235505.1
XP_054235506.1
XP_054235507.1
XP_054235508.1
XP_054235509.1
XP_054235510.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001318890.3 → NP_001305819.1  acyl-coenzyme A synthetase ACSM1, mitochondrial

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC020926, AC141273
    Consensus CDS
    CCDS10587.1
    UniProtKB/Swiss-Prot
    Q08AH1, Q08AH2, Q96A20
    UniProtKB/TrEMBL
    B2RAP4
    Related
    ENSP00000428047.1, ENST00000520010.6
    Conserved Domains (1) summary
    cd05928
    Location:45 → 574
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

  2. NM_052956.3 → NP_443188.2  acyl-coenzyme A synthetase ACSM1, mitochondrial

    See identical proteins and their annotated locations for NP_443188.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB059429, AC141273, AK092574
    Consensus CDS
    CCDS10587.1
    UniProtKB/Swiss-Prot
    Q08AH1, Q08AH2, Q96A20
    UniProtKB/TrEMBL
    B2RAP4
    Related
    ENSP00000301956.3, ENST00000307493.8
    Conserved Domains (1) summary
    cd05928
    Location:45 → 574
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

RNA

  1. NR_134918.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks multiple exons and contains an additional alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC141273, AK092574, BC125177
    Related
    ENST00000519745.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    20623235..20697680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545730.4 → XP_011544032.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X7

    Conserved Domains (2) summary
    COG0365
    Location:39 → 417
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45 → 416
    AFD_class_I; Adenylate forming domain, Class I superfamily

  2. XM_006721017.4 → XP_006721080.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X2

    UniProtKB/TrEMBL
    B2RAP4
    Conserved Domains (2) summary
    COG0365
    Location:39 → 514
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45 → 513
    AFD_class_I; Adenylate forming domain, Class I superfamily

  3. XM_006721016.4 → XP_006721079.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X1

    UniProtKB/TrEMBL
    B2RAP4
    Conserved Domains (2) summary
    COG0365
    Location:39 → 541
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45 → 540
    AFD_class_I; Adenylate forming domain, Class I superfamily

  4. XM_006721018.3 → XP_006721081.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10

    See identical proteins and their annotated locations for XP_006721081.1

    Conserved Domains (2) summary
    COG0365
    Location:3 → 355
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:1 → 354
    AFD_class_I; Adenylate forming domain, Class I superfamily

  5. XM_011545732.3 → XP_011544034.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10

    See identical proteins and their annotated locations for XP_011544034.1

    Conserved Domains (2) summary
    COG0365
    Location:3 → 355
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:1 → 354
    AFD_class_I; Adenylate forming domain, Class I superfamily

  6. XM_047433585.1 → XP_047289541.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10

  7. XM_011545731.3 → XP_011544033.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X9

    Conserved Domains (2) summary
    COG0365
    Location:7 → 376
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:5 → 375
    AFD_class_I; Adenylate forming domain, Class I superfamily

  8. XM_047433582.1 → XP_047289538.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X4

  9. XM_047433584.1 → XP_047289540.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X8

  10. XM_047433583.1 → XP_047289539.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X6

  11. XM_047433581.1 → XP_047289537.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X3

  12. XM_017022914.3 → XP_016878403.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X11

  13. XM_011545729.4 → XP_011544031.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X5

    Conserved Domains (2) summary
    pfam00501
    Location:81 → 454
    AMP-binding; AMP-binding enzyme
    cl17068
    Location:45 → 454
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. XR_007064850.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20554185..20628601 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379529.1 → XP_054235504.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X7

  2. XM_054379524.1 → XP_054235499.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X2

  3. XM_054379523.1 → XP_054235498.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X1

  4. XM_054379532.1 → XP_054235507.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10

  5. XM_054379534.1 → XP_054235509.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10

  6. XM_054379533.1 → XP_054235508.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10

  7. XM_054379531.1 → XP_054235506.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X9

  8. XM_054379526.1 → XP_054235501.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X4

  9. XM_054379530.1 → XP_054235505.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X8

  10. XM_054379528.1 → XP_054235503.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X6

  11. XM_054379525.1 → XP_054235500.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X3

  12. XM_054379535.1 → XP_054235510.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X11

  13. XM_054379527.1 → XP_054235502.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X5

RNA

  1. XR_008489051.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08AH1.1 GenPept UniProtKB/Swiss-Prot:Q08AH1

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