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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 63
  • ACSF1 3 4
  • Homolog Of C. Elegans Supressor Of Ras 5 (Sur-5) 3
  • Acetoacetate-CoA Ligase 3
  • EC 6.2.1 63
  • 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 Valine, leucine and isoleucine degradation. 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 , 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

Promoters for AACS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AACS on UCSC Golden Path with GeneCards custom track

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

Proteomics data for AACS Gene at MOPED

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

Phenotypes for AACS Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for AACS

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for AACS Gene COMPARTMENTS Subcellular localization image for AACS gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
peroxisome 2

No data available for Gene Ontology (GO) - Cellular Components for AACS Gene

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:0007584 response to nutrient IEA --
GO:0010243 response to organonitrogen compound IEA --
GO:0014074 response to purine-containing compound IEA --
GO:0032024 positive regulation of insulin secretion 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
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Acetoacetic acid Experimental Pharma 0
Acetoacetyl-CoA Experimental Pharma 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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: - - - - - - - - -
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 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, MOPED, and MaxQB for AACS Gene



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

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia AACS 35
  • 86.81 (n)
  • 91.67 (a)
AACS 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AACS 35
  • 85.98 (n)
  • 87.46 (a)
mouse
(Mus musculus)
Mammalia Aacs 35
  • 84.67 (n)
  • 89.88 (a)
Aacs 16
Aacs 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AACS 35
  • 99.22 (n)
  • 99.06 (a)
AACS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aacs 35
  • 84.52 (n)
  • 89.29 (a)
oppossum
(Monodelphis domestica)
Mammalia AACS 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves AACS 35
  • 77.09 (n)
  • 86.1 (a)
AACS 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AACS 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aacs 35
  • 72.15 (n)
  • 78.13 (a)
Str.18908 35
zebrafish
(Danio rerio)
Actinopterygii aacs 35
  • 72.59 (n)
  • 77.81 (a)
zgc56105 35
aacs 36
  • 78 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sur-5 35
  • 49.35 (n)
  • 40.55 (a)
sur-5 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACS2 36
  • 20 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00446 35
  • 51.14 (n)
  • 44.1 (a)
Species with no ortholog for AACS:
  • 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
VAR_038303 -
rs59883951 - 125,128,260(+) GGAAG(C/T)GTGGA intron-variant, reference, missense
rs728906 -- 125,069,974(+) TTCAG(A/G)GTTCC intron-variant
rs751807 -- 125,128,612(-) TTCAA(C/T)GACCA intron-variant
rs900410 -- 125,097,845(+) TTTCA(C/T)TCCCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv899596 CNV Loss 21882294
esv2746555 CNV Deletion 23290073
esv2746556 CNV Deletion 23290073
esv2746557 CNV Deletion 23290073
esv2784 CNV Deletion 18987735
esv2746558 CNV Deletion 23290073
esv2746559 CNV Deletion 23290073
esv2746560 CNV Deletion 23290073
esv2746561 CNV Deletion 23290073
esv2746562 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
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 23 67
  2. Transcriptional regulation of the human acetoacetyl-CoA synthetase gene by PPARgamma. (PMID: 20102333) AguilA^ F. … Haro D. (Biochem. J. 2010) 3 23
  3. 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. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for AACS Gene

Sources for AACS Gene

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