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    AACS acetoacetyl-CoA synthetase [ Homo sapiens (human) ]

    Gene ID: 65985, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AACSprovided by HGNC
    Official Full Name
    acetoacetyl-CoA synthetaseprovided by HGNC
    Primary source
    HGNC:HGNC:21298
    See related
    Ensembl:ENSG00000081760 MIM:614364; AllianceGenome:HGNC:21298
    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
    ACSF1; SUR-5
    Summary
    Predicted to enable acetoacetate-CoA ligase activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 23.3), skin (RPKM 16.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AACS in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (125065435..125143316)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (125073284..125151299)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (125549981..125627862)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5079 Neighboring gene BRI3 binding protein Neighboring gene translocase of outer mitochondrial membrane 6 homolog (yeast) pseudogene Neighboring gene uncharacterized LOC105370052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5080 Neighboring gene NANOG hESC enhancer GRCh37_chr12:125567653-125568164 Neighboring gene TNF and HNRNPL related immunoregulatory long non-coding RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125575617-125576118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125589377-125589878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125589879-125590378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125605981-125606930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125617807-125618438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125627653-125628227 Neighboring gene uncharacterized LOC105370053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125644140-125644640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125670133-125670666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125678461-125678992 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:125691417-125691667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125692947-125693686 Neighboring gene transmembrane protein 132B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125730381-125730881 Neighboring gene uncharacterized LOC105370054 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125764586-125765449

    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. A radiochemical assay for acetoacetyl-CoA synthetase. Bergstrom JD, et al. Anal Biochem, 1985 Sep. PMID 4073493
    2. Expression of acetoacetyl-CoA synthetase, a novel cytosolic ketone body-utilizing enzyme, in human brain. Ohgami M, et al. Biochem Pharmacol, 2003 Mar 15. PMID 12623130
    3. Transcriptional regulation of the human acetoacetyl-CoA synthetase gene by PPARgamma. Aguiló F, et al. Biochem J, 2010 Mar 29. PMID 20102333
    4. Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation. Haydar S, et al. PLoS One, 2019. PMID 30913280, Free PMC Article
    5. Caenorhabditis elegans SUR-5, a novel but conserved protein, negatively regulates LET-60 Ras activity during vulval induction. Gu T, et al. Mol Cell Biol, 1998 Aug. PMID 9671465, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.
      Title: Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.
    2. the human AACS promoter is a PPARgamma target gene and this nuclear receptor is recruited to the AACS promoter by direct interaction with Sp1
      Title: Transcriptional regulation of the human acetoacetyl-CoA synthetase gene by PPARgamma.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
    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

    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

    Clone Names

    • FLJ12389, FLJ41251

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acetoacetate-CoA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetoacetate-CoA ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ketone body biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of insulin secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    acetoacetyl-CoA synthetase
    Names
    acetoacetate-CoA ligase
    acyl-CoA synthetase family member 1
    homolog of C. elegans supressor of ras 5 (sur-5)
    protein sur-5 homolog
    NP_001306768.1
    NP_001306769.1
    NP_001401604.1
    NP_001401605.1
    NP_001401606.1
    NP_001401607.1
    NP_076417.2
    XP_011536994.1
    XP_047285402.1
    XP_054229012.1
    XP_054229013.1

    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_001319839.2 → NP_001306768.1  acetoacetyl-CoA synthetase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus compared to isoform 1.
      Source sequence(s)
      BC040490, BC041000, BC051862, BM975973, HY018418
      UniProtKB/Swiss-Prot
      Q86V21
      Conserved Domains (2) summary
      cd05943
      Location:40 → 560
      AACS; Acetoacetyl-CoA synthetase (acetoacetate-CoA ligase, AACS)
      pfam00501
      Location:112 → 541
      AMP-binding; AMP-binding enzyme

    2. NM_001319840.2 → NP_001306769.1  acetoacetyl-CoA synthetase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC122688
      Conserved Domains (2) summary
      cd05943
      Location:40 → 622
      AACS; Acetoacetyl-CoA synthetase (acetoacetate-CoA ligase, AACS)
      TIGR01217
      Location:16 → 629
      ac_ac_CoA_syn; acetoacetyl-CoA synthase

    3. NM_001414675.1 → NP_001401604.1  acetoacetyl-CoA synthetase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC122688

    4. NM_001414676.1 → NP_001401605.1  acetoacetyl-CoA synthetase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC122688
      UniProtKB/TrEMBL
      A0A5A4UB59

    5. NM_001414677.1 → NP_001401606.1  acetoacetyl-CoA synthetase isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC122688

    6. NM_001414678.1 → NP_001401607.1  acetoacetyl-CoA synthetase isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC122688

    7. NM_023928.5 → NP_076417.2  acetoacetyl-CoA synthetase isoform 1

      See identical proteins and their annotated locations for NP_076417.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC040490, BC051862
      Consensus CDS
      CCDS9263.1
      UniProtKB/Swiss-Prot
      Q49AB9, Q49AC3, Q658Q8, Q86V21, Q8IWD2, Q8NEW5, Q9BSJ9, Q9H829, Q9HA19
      Related
      ENSP00000324842.6, ENST00000316519.11
      Conserved Domains (2) summary
      cd05943
      Location:40 → 663
      AACS; Acetoacetyl-CoA synthetase (acetoacetate-CoA ligase, AACS)
      TIGR01217
      Location:16 → 670
      ac_ac_CoA_syn; acetoacetyl-CoA synthase

    RNA

    1. NR_183032.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122688

    2. NR_183033.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122688

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      125065435..125143316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429446.1 → XP_047285402.1  acetoacetyl-CoA synthetase isoform X2

    2. XM_011538692.3 → XP_011536994.1  acetoacetyl-CoA synthetase isoform X1

      Conserved Domains (2) summary
      cd05943
      Location:7 → 555
      AACS; Acetoacetyl-CoA synthetase (acetoacetate-CoA ligase, AACS)
      COG0365
      Location:20 → 539
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

    RNA

    1. XR_007063117.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      125073284..125151299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373038.1 → XP_054229013.1  acetoacetyl-CoA synthetase isoform X2

    2. XM_054373037.1 → XP_054229012.1  acetoacetyl-CoA synthetase isoform X1

    RNA

    1. XR_008488666.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86V21.1 GenPept UniProtKB/Swiss-Prot:Q86V21

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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