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

    Gene ID: 6296, updated on 27-Nov-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 medium-chain fatty acid-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, Nov 2024]
    Expression
    Broad expression in liver (RPKM 29.1), kidney (RPKM 21.9) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACSM3 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20674405..20797581)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20605311..20728512)
    RS_2024_09 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. Evaluation of the SA locus in human hypertension. Nabika T, et al. Hypertension, 1995 Jan. PMID 7843754
    2. 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
    3. 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
    4. Segmental renal sodium handling in relation to the human SAH gene. Jin Y, et al. Hypertension, 2008 Aug. PMID 18519841
    5. SAH gene variants revisited in the European Project On Genes in Hypertension. Tikhonoff V, et al. J Hypertens, 2008 Feb. PMID 18192838

    See all (43) 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)

    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 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    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 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 HTP PubMed 
    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_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
      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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