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ACSM3 acyl-CoA synthetase medium chain family member 3 [ Homo sapiens (human) ]

Gene ID: 6296, updated on 11-Apr-2024

Summary

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Official Symbol
ACSM3provided by HGNC
Official Full Name
acyl-CoA synthetase medium chain family member 3provided by HGNC
Primary source
HGNC:HGNC:10522
See related
Ensembl:ENSG00000005187 MIM:145505; AllianceGenome:HGNC:10522
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
SA; SAH
Summary
Enables butyrate-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. Implicated in IgA glomerulonephritis. Biomarker of ulcerative colitis. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver (RPKM 29.1), kidney (RPKM 21.9) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
16p12.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20674405..20797581)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20605311..20728512)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20775336..20808903)

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 acyl-CoA synthetase medium chain family member 1 Neighboring gene NANOG hESC enhancer GRCh37_chr16:20693644-20694145 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 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10539 Neighboring gene RNA, U6 small nuclear 944, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:20816990-20817935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10541 Neighboring gene ERI1 exoribonuclease family member 2 Neighboring gene uncharacterized LOC105371121 Neighboring gene RNA exonuclease 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:20876915-20878114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:20878222-20878722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7246 Neighboring gene defective in cullin neddylation 1 domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10546 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:20911499-20912284 Neighboring gene LYR motif 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
  • 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. ACSM3 suppresses the pathogenesis of high-grade serous ovarian carcinoma via promoting AMPK activity. Yang X, et al. Cell Oncol (Dordr), 2022 Feb. PMID 35124784
  2. Integrative transcriptome analysis of liver cancer profiles identifies upstream regulators and clinical significance of ACSM3 gene expression. Gopal R, et al. Cell Oncol (Dordr), 2017 Jun. PMID 28390038
  3. Left ventricular structure in relation to the human SAH gene in the European Project on Genes in Hypertension. Jin Y, et al. Hypertens Res, 2009 Feb. PMID 19262474
  4. Human SA gene polymorphisms are associated with non-high-density lipoprotein cholesterol in postmenopausal women: a pilot study. Lin MW, et al. Maturitas, 2009 Jan 20. PMID 19108963
  5. Segmental renal sodium handling in relation to the human SAH gene. Jin Y, et al. Hypertension, 2008 Aug. PMID 18519841

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Acyl-CoA Medium-Chain Synthetase-3 (ACSM3) Is Regulated by Insulin Like Growth Factor 2 mRNA Binding Protein 3 (IGF2BP3) and Inhibits Proliferation, Motility and Stem Cell Properties of Breast Invasive Carcinoma.
    Title: Acyl-CoA Medium-Chain Synthetase-3 (ACSM3) Is Regulated by Insulin Like Growth Factor 2 mRNA Binding Protein 3 (IGF2BP3) and Inhibits Proliferation, Motility and Stem Cell Properties of Breast Invasive Carcinoma.
  2. ACSM3 suppresses the pathogenesis of high-grade serous ovarian carcinoma via promoting AMPK activity.
    Title: ACSM3 suppresses the pathogenesis of high-grade serous ovarian carcinoma via promoting AMPK activity.
  3. Our data provide evidence for a differential expression and regulation of the ACSM3 gene in hepatocellular carcinoma
    Title: Integrative transcriptome analysis of liver cancer profiles identifies upstream regulators and clinical significance of ACSM3 gene expression.
  4. Reduced ACSM3 is associated with impaired butyrate oxidation in ulcerative colitis.
    Title: Impaired butyrate oxidation in ulcerative colitis is due to decreased butyrate uptake and a defect in the oxidation pathway.
  5. 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.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. left ventricular mass index and mean wall thickness , two phenotypes that are jointly influenced by blood pressure and obesity, might be related to variation in the human SAH gene
    Title: Left ventricular structure in relation to the human SAH gene in the European Project on Genes in Hypertension.
  8. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
  9. SA hypertension-associated homolog(SAH) gene polymorphisms are associated with non-high-density lipoprotein cholesterol in postmenopausal women
    Title: Human SA gene polymorphisms are associated with non-high-density lipoprotein cholesterol in postmenopausal women: a pilot study.
  10. We conclude that, in spite of its renal expression,1-3 the human SAH gene is unlikely to have an important role in renal sodium handling.
    Title: Segmental renal sodium handling in relation to the human SAH gene.
Submit: New GeneRIF Correction See all GeneRIFs (16)

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-methylbutanoate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables butyrate-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 medium-chain fatty acid-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables propionate CoA-transferase activity IEA
Inferred from Electronic Annotation
more info
  
enables propionate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol homeostasis 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 regulation of blood pressure NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
acyl-coenzyme A synthetase ACSM3, mitochondrial
Names
SA (rat hypertension-associated) homolog
SA hypertension-associated homolog
butyrate--CoA ligase 3
butyryl-coenzyme A synthetase 3
middle-chain acyl-CoA synthetase 3
propionate--CoA ligase
protein SA homolog
NP_005613.2
NP_973729.1
XP_011544213.1
XP_016879012.1
XP_024306135.1
XP_024306136.1
XP_024306138.1
XP_047290375.1
XP_047290376.1
XP_047290377.1
XP_047290378.1
XP_047290379.1
XP_047290380.1
XP_047290381.1
XP_047290382.1
XP_047290383.1
XP_047290384.1
XP_047290385.1
XP_047290386.1
XP_047290387.1
XP_047290388.1
XP_047290389.1
XP_047290390.1
XP_047290391.1
XP_047290392.1
XP_047290393.1
XP_047290394.1
XP_047290395.1
XP_047290396.1
XP_047290397.1
XP_054169550.1
XP_054169551.1
XP_054169552.1
XP_054169553.1
XP_054169554.1
XP_054169555.1
XP_054169556.1
XP_054169557.1
XP_054169558.1
XP_054169559.1
XP_054169560.1
XP_054169561.1
XP_054169562.1
XP_054169563.1

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_005622.4 → NP_005613.2  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_005613.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC004381, BI770558, BM828310, BU170035, D16350, X80062
    Consensus CDS
    CCDS10589.1
    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2
    UniProtKB/TrEMBL
    A8K2Q7
    Related
    ENSP00000289416.5, ENST00000289416.10
    Conserved Domains (1) summary
    cd05928
    Location:54 → 583
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

  2. NM_202000.3 → NP_973729.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_973729.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BI770558, X80062
    Consensus CDS
    CCDS45435.1
    UniProtKB/Swiss-Prot
    Q53FZ2
    Related
    ENSP00000394565.2, ENST00000440284.6
    Conserved Domains (2) summary
    COG0365
    Location:54 → 429
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:54 → 409
    AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    20674405..20797581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434437.1 → XP_047290393.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  2. XM_047434427.1 → XP_047290383.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  3. XM_024450368.2 → XP_024306136.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A8K2Q7
    Conserved Domains (1) summary
    cd05928
    Location:54 → 620
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

  4. XM_047434435.1 → XP_047290391.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  5. XM_047434438.1 → XP_047290394.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  6. XM_047434436.1 → XP_047290392.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  7. XM_047434439.1 → XP_047290395.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  8. XM_047434440.1 → XP_047290396.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  9. XM_047434421.1 → XP_047290377.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  10. XM_047434424.1 → XP_047290380.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  11. XM_047434420.1 → XP_047290376.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  12. XM_047434422.1 → XP_047290378.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  13. XM_047434429.1 → XP_047290385.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  14. XM_047434419.1 → XP_047290375.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  15. XM_047434423.1 → XP_047290379.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  16. XM_047434426.1 → XP_047290382.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  17. XM_047434425.1 → XP_047290381.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  18. XM_047434431.1 → XP_047290387.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  19. XM_047434430.1 → XP_047290386.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  20. XM_047434428.1 → XP_047290384.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  21. XM_047434432.1 → XP_047290388.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  22. XM_047434433.1 → XP_047290389.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  23. XM_047434441.1 → XP_047290397.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X5

  24. XM_024450370.2 → XP_024306138.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2
    UniProtKB/TrEMBL
    A8K2Q7
    Conserved Domains (1) summary
    cd05928
    Location:54 → 583
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

  25. XM_047434434.1 → XP_047290390.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X3

  26. XM_011545911.3 → XP_011544213.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A8K2Q7
    Related
    ENSP00000456767.1, ENST00000562251.5
    Conserved Domains (1) summary
    cd05928
    Location:54 → 620
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

  27. XM_024450367.2 → XP_024306135.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A8K2Q7
    Conserved Domains (1) summary
    cl17068
    Location:54 → 596
    AFD_class_I; Adenylate forming domain, Class I superfamily

  28. XM_017023523.3 → XP_016879012.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X3

    UniProtKB/TrEMBL
    A8K2Q7
    Conserved Domains (1) summary
    cd05928
    Location:54 → 559
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20605311..20728512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313585.1 → XP_054169560.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  2. XM_054313586.1 → XP_054169561.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  3. XM_054313581.1 → XP_054169556.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  4. XM_054313583.1 → XP_054169558.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  5. XM_054313582.1 → XP_054169557.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  6. XM_054313584.1 → XP_054169559.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  7. XM_054313576.1 → XP_054169551.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  8. XM_054313587.1 → XP_054169562.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    UniProtKB/Swiss-Prot
    O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2

  9. XM_054313580.1 → XP_054169555.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X3

  10. XM_054313578.1 → XP_054169553.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X2

  11. XM_054313588.1 → XP_054169563.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X6

  12. XM_054313577.1 → XP_054169552.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X2

  13. XM_054313575.1 → XP_054169550.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  14. XM_054313579.1 → XP_054169554.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53FZ2.2 GenPept UniProtKB/Swiss-Prot:Q53FZ2

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