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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
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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

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