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

    Gene ID: 116285, updated on 28-Oct-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, Oct 2024]
    Expression
    Broad expression in prostate (RPKM 1.3), ovary (RPKM 1.3) and 18 other tissues See more
    Orthologs
    mouse all
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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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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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