Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AACS Gene

Aliases for AACS Gene

  • Acetoacetyl-CoA Synthetase 2 3 5
  • Acyl-CoA Synthetase Family Member 1 2 3 4
  • Protein Sur-5 Homolog 3 4
  • EC 4 61
  • ACSF1 3 4
  • Homolog Of C. Elegans Supressor Of Ras 5 (Sur-5) 3
  • Acetoacetate-CoA Ligase 3
  • EC 6.2.1 61
  • SUR-5 3

External Ids for AACS Gene

Previous GeneCards Identifiers for AACS Gene

  • GC12P125273
  • GC12P123904
  • GC12P123905
  • GC12P124074
  • GC12P124115
  • GC12P125549
  • GC12P122513

Summaries for AACS Gene

GeneCards Summary for AACS Gene

AACS (Acetoacetyl-CoA Synthetase) is a Protein Coding gene. Among its related pathways are Ketone body metabolism and Metabolism. GO annotations related to this gene include butyrate-CoA ligase activity and acetoacetate-CoA ligase activity. An important paralog of this gene is ACSS3.

UniProtKB/Swiss-Prot for AACS Gene

  • Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AACS Gene

Genomics for AACS Gene

Regulatory Elements for AACS Gene

Enhancers for AACS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G125110 1 ENCODE dbSUPER 16.7 +45.7 45662 1.4 ARNT FEZF1 CEBPG ZNF316 ZBTB48 ZSCAN5C NFE2 PRDM10 MAFK CEBPB AACS LOC100131779 PIR33215 LOC105370052
GH12G125078 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8.3 +14.6 14629 2.0 KLF1 MXI1 MAX POLR2A ZNF600 RELB IKZF2 CHD2 EGR2 MTA2 AACS LOC105370052
GH12G125064 1.2 ENCODE dbSUPER 9.6 +0.1 71 1.9 PKNOX1 ATF1 ARID4B SIN3A ZNF2 ZNF48 ZBTB7B GLIS2 ELK1 KLF7 AACS LOC105370052
GH12G125048 1.3 Ensembl ENCODE 8.4 -15.8 -15779 1.6 ATF1 PKNOX1 SIN3A GLI4 ZNF2 GLIS2 KLF7 ZNF548 FOS SP3 NCOR2 AACS GC12P125055 GC12P125029
GH12G125092 1.5 FANTOM5 ENCODE dbSUPER 6.4 +28.5 28544 3.6 FOXA2 ZFP64 ARID4B DMAP1 YY1 SP5 MXD4 MIER2 PPARG KAT8 AACS TMEM132B LOC105370052 PIR33215
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AACS on UCSC Golden Path with GeneCards custom track

Promoters for AACS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000059020 21 1601 PKNOX1 ARID4B SIN3A ZNF2 ZNF48 ZBTB7B GLIS2 ELK1 KLF7 ZNF263

Genomic Location for AACS Gene

125,065,379 bp from pter
125,143,333 bp from pter
77,955 bases
Plus strand

Genomic View for AACS Gene

Genes around AACS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AACS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AACS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AACS Gene

Proteins for AACS Gene

  • Protein details for AACS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Acetoacetyl-CoA synthetase
    Protein Accession:
    Secondary Accessions:
    • Q49AB9
    • Q49AC3
    • Q658Q8
    • Q8IWD2
    • Q8NEW5
    • Q9BSJ9
    • Q9H829
    • Q9HA19

    Protein attributes for AACS Gene

    672 amino acids
    Molecular mass:
    75144 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH41000.1; Type=Frameshift; Positions=201; Evidence={ECO:0000305}; Sequence=BAB14793.1; Type=Frameshift; Positions=519; Evidence={ECO:0000305};

    Alternative splice isoforms for AACS Gene


neXtProt entry for AACS Gene

Selected DME Specific Peptides for AACS Gene


Post-translational modifications for AACS Gene

  • Ubiquitination at posLast=9595
  • Modification sites at PhosphoSitePlus

Other Protein References for AACS Gene

Domains & Families for AACS Gene

Gene Families for AACS Gene

Protein Domains for AACS Gene

Suggested Antigen Peptide Sequences for AACS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ATP-dependent AMP-binding enzyme family.
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with AACS: view

Function for AACS Gene

Molecular function for AACS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + acetoacetate + CoA = AMP + diphosphate + acetoacetyl-CoA.
UniProtKB/Swiss-Prot Function:
Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity).

Enzyme Numbers (IUBMB) for AACS Gene

Gene Ontology (GO) - Molecular Function for AACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0030729 acetoacetate-CoA ligase activity TAS --
genes like me logo Genes that share ontologies with AACS: view
genes like me logo Genes that share phenotypes with AACS: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AACS

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AACS Gene

Localization for AACS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AACS Gene

Cytoplasm, cytosol.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AACS gene
Compartment Confidence
cytosol 5
peroxisome 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AACS: view

Pathways & Interactions for AACS Gene

genes like me logo Genes that share pathways with AACS: view

Gene Ontology (GO) - Biological Process for AACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0007584 response to nutrient IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with AACS: view

No data available for SIGNOR curated interactions for AACS Gene

Drugs & Compounds for AACS Gene

(6) Drugs for AACS Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Acetoacetic acid Experimental Pharma 0
Acetoacetyl-CoA Experimental Pharma 0

(1) Additional Compounds for AACS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
genes like me logo Genes that share compounds with AACS: view

Transcripts for AACS Gene

Unigene Clusters for AACS Gene

Acetoacetyl-CoA synthetase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AACS Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ·
SP1: - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4: -
SP5: - - - - - - - - -
SP7: - -
SP8: -

ExUns: 19d · 19e

Relevant External Links for AACS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AACS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AACS Gene

Protein differential expression in normal tissues from HIPED for AACS Gene

This gene is overexpressed in Salivary gland (21.2), Milk (7.2), and Tonsil (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AACS Gene

NURSA nuclear receptor signaling pathways regulating expression of AACS Gene:


SOURCE GeneReport for Unigene cluster for AACS Gene:


mRNA Expression by UniProt/SwissProt for AACS Gene:

Tissue specificity: Highly expressed in kidney, heart and brain, but low in liver.

Evidence on tissue expression from TISSUES for AACS Gene

  • Nervous system(4.9)
  • Stomach(4.4)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with AACS: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AACS Gene

Orthologs for AACS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AACS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AACS 34 35
  • 99.22 (n)
(Bos Taurus)
Mammalia AACS 34 35
  • 86.81 (n)
(Canis familiaris)
Mammalia AACS 34
  • 85.98 (n)
(Monodelphis domestica)
Mammalia AACS 35
  • 85 (a)
(Mus musculus)
Mammalia Aacs 34 16 35
  • 84.67 (n)
(Rattus norvegicus)
Mammalia Aacs 34
  • 84.52 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
-- 35
  • 63 (a)
(Gallus gallus)
Aves AACS 34 35
  • 77.09 (n)
(Anolis carolinensis)
Reptilia AACS 35
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aacs 34
  • 72.15 (n)
Str.18908 34
(Danio rerio)
Actinopterygii aacs 34 35
  • 72.59 (n)
zgc56105 34
(Caenorhabditis elegans)
Secernentea sur-5 34 35
  • 49.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACS2 35
  • 20 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00446 34
  • 51.14 (n)
Species where no ortholog for AACS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AACS Gene

Gene Tree for AACS (if available)
Gene Tree for AACS (if available)

Paralogs for AACS Gene

Paralogs for AACS Gene Pseudogenes for AACS Gene

genes like me logo Genes that share paralogs with AACS: view

Variants for AACS Gene

Sequence variations from dbSNP and Humsavar for AACS Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000013225 -- 125,141,250(+) CCTGA(A/G)AGATA intron-variant
rs1000017753 -- 125,065,778(+) TGGTT(A/G)GGTGG intron-variant
rs1000018200 -- 125,116,993(+) AGGCT(A/G)GAGTG intron-variant
rs1000029017 -- 125,086,108(+) TTTAC(A/G)CAGCA intron-variant
rs1000071322 -- 125,073,610(+) CTCTA(C/G)AGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AACS Gene

Variant ID Type Subtype PubMed ID
esv2746555 CNV deletion 23290073
esv2746556 CNV deletion 23290073
esv2746557 CNV deletion 23290073
esv2746558 CNV deletion 23290073
esv2746559 CNV deletion 23290073
esv2746560 CNV deletion 23290073
esv2746561 CNV deletion 23290073
esv2746562 CNV deletion 23290073
esv2784 CNV loss 18987735
nsv1051020 CNV gain 25217958
nsv1113534 CNV deletion 24896259
nsv1116716 CNV tandem duplication 24896259
nsv1124665 CNV duplication 24896259
nsv1145640 CNV deletion 24896259
nsv1148653 CNV deletion 26484159
nsv957262 CNV deletion 24416366

Variation tolerance for AACS Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AACS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AACS Gene

Disorders for AACS Gene

Relevant External Links for AACS

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for AACS Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AACS Gene

Publications for AACS Gene

  1. Expression of acetoacetyl-CoA synthetase, a novel cytosolic ketone body-utilizing enzyme, in human brain. (PMID: 12623130) Ohgami M. … Fukui T. (Biochem. Pharmacol. 2003) 2 3 4 22 64
  2. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PMID: 17762044) Watkins P.A. … Pevsner J. (J. Lipid Res. 2007) 2 3 4 64
  3. Transcriptional regulation of the human acetoacetyl-CoA synthetase gene by PPARgamma. (PMID: 20102333) AguilA^ F. … Haro D. (Biochem. J. 2010) 3 22 64
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for AACS Gene

Sources for AACS Gene

Loading form....