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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 6.2.1.16 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 Metabolism and Butanoate metabolism. GO annotations related to this gene include butyrate-CoA ligase activity and acetoacetate-CoA ligase activity. An important paralog of this gene is ACSS2.

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 , 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
GH12F125110 0.7 ENCODE 16.7 +45.7 45662 1.4 ARNT MAFG CEBPB FEZF1 EP300 ZNF316 ATF3 ZBTB48 HMBOX1 PRDM10 AACS LOC100131779 PIR33215 LOC105370052
GH12F125048 1.3 Ensembl ENCODE 8.4 -15.8 -15779 1.6 ATF1 PKNOX1 SIN3A GLI4 ZNF2 GLIS2 KLF7 ZNF548 FOS SP3 LOC100131779 ENSG00000256814 NCOR2 AACS GC12P125055 GC12P125029
GH12F125078 1.2 FANTOM5 Ensembl ENCODE 8.3 +14.6 14629 2.0 KLF1 MXI1 MTA2 CEBPB MAX NR3C1 TBX21 EP300 POLR2A IKZF1 AACS LOC105370052
GH12F125064 1 ENCODE 9.6 +0.1 71 1.9 PKNOX1 ARID4B SIN3A ZNF48 ZNF2 GLIS2 ELK1 KLF7 ZNF263 SP3 AACS LOC105370052
GH12F125092 1.2 FANTOM5 ENCODE 6.4 +28.5 28544 3.6 ELF3 ZFP64 KLF17 ARID4B DMAP1 RAD21 DNMT3B YY1 CREM MIXL1 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
ENSR00000439036 221 2001 PKNOX1 ARID4B SIN3A ZNF48 ZNF2 GLIS2 ELK1 KLF7 ZNF263 SP3

Genomic Location for AACS Gene

Chromosome:
12
Start:
125,065,379 bp from pter
End:
125,143,333 bp from pter
Size:
77,955 bases
Orientation:
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:
    Q86V21-AACS_HUMAN
    Recommended name:
    Acetoacetyl-CoA synthetase
    Protein Accession:
    Q86V21
    Secondary Accessions:
    • Q49AB9
    • Q49AC3
    • Q658Q8
    • Q8IWD2
    • Q8NEW5
    • Q9BSJ9
    • Q9H829
    • Q9HA19

    Protein attributes for AACS Gene

    Size:
    672 amino acids
    Molecular mass:
    75144 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for AACS Gene

Selected DME Specific Peptides for AACS Gene

Q86V21:
  • MLGRSDGTLNPNGVRFGSSEIYNIVE
  • STGSPLK
  • GKKVEVAVKQ
  • YDEVVDTSK
  • VHSAGGTL
  • QVMWEPDSK
  • VVKGLPDLKKVVVIPYV
  • DFWAEFWK
  • GTTGAPK
  • PQLEFEQLPF
  • SKIPNSVFL
  • LLGSISGGTDIISCFMG
  • GVKKGDRV
  • NGVLDRFSQIQPKLIFSVEAVVYNGKEH
  • GEIQARNLGMAVE
  • GDRVVGYLPN
  • DSLCVPQYN
  • GWMMWNW
  • VEAMLAAASIGAIWS
  • PVYKGEIQAR

Post-translational modifications for AACS Gene

  • Ubiquitination at Lys 95
  • 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

Q86V21

UniProtKB/Swiss-Prot:

AACS_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
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

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
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
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

Inhibitory RNA Products

Flow Cytometry Products

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: - - - - - - - - -
SP6:
SP7: - -
SP8: -

ExUns: 19d · 19e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for AACS Gene

GeneLoc Exon Structure for
AACS
ECgene alternative splicing isoforms for
AACS

Expression for AACS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

AACS

SOURCE GeneReport for Unigene cluster for AACS Gene:

Hs.656073

mRNA Expression by UniProt/SwissProt for AACS Gene:

Q86V21-AACS_HUMAN
Tissue specificity: Highly expressed in kidney, heart and brain, but low in liver.
genes like me logo Genes that share expression patterns with AACS: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia AACS 34 35
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia AACS 34 35
  • 86.81 (n)
dog
(Canis familiaris)
Mammalia AACS 34
  • 85.98 (n)
oppossum
(Monodelphis domestica)
Mammalia AACS 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aacs 34 16 35
  • 84.67 (n)
rat
(Rattus norvegicus)
Mammalia Aacs 34
  • 84.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves AACS 34 35
  • 77.09 (n)
lizard
(Anolis carolinensis)
Reptilia AACS 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aacs 34
  • 72.15 (n)
Str.18908 34
zebrafish
(Danio rerio)
Actinopterygii aacs 34 35
  • 72.59 (n)
zgc56105 34
worm
(Caenorhabditis elegans)
Secernentea sur-5 34 35
  • 49.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACS2 35
  • 20 (a)
OneToMany
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

ENSEMBL:
Gene Tree for AACS (if available)
TreeFam:
Gene Tree for AACS (if available)

Paralogs for AACS Gene

Paralogs for AACS Gene

Pseudogenes.org 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
rs10047564 -- 125,099,796(+) TCAGC(C/T)TCCCA intron-variant
rs10082930 -- 125,076,400(+) AACCA(C/T)TTTTG intron-variant, upstream-variant-2KB
rs10400443 -- 125,107,522(+) CAGCG(C/T)GGTGT intron-variant
rs10400509 -- 125,107,627(+) GCCAG(C/T)ATTTT intron-variant
rs1058031 -- 125,140,311(-) TAGAG(A/G)AAAGG 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
AACS

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)
AACS
Human Genome Epidemiology (HuGE) Navigator
AACS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AACS

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

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