Aliases for AACS Gene

Aliases for AACS Gene

  • Acetoacetyl-CoA Synthetase 2 3 4 5
  • Acyl-CoA Synthetase Family Member 1 2 3 4
  • ACSF1 2 3 4
  • Protein Sur-5 Homolog 3 4
  • EC 6.2.1.16 4 51
  • SUR-5 2 3
  • Homolog Of C. Elegans Supressor Of Ras 5 (Sur-5) 3
  • Acetoacetate-CoA Ligase 3
  • FLJ12389 2
  • EC 6.2.1 51
  • AACS 5

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. Diseases associated with AACS include Ampulla Of Vater Cancer and Spinal Muscular Atrophy, Type Iii. Among its related pathways are Metabolism and Butanoate metabolism. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for AACS Gene

Genomics for AACS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AACS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J125064 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 609.5 +0.3 305 2.5 GATAD2A ZNF629 POLR2A RBFOX2 ZNF24 PATZ1 REST RCOR1 EZH2 HDAC1 AACS LOC105370052 TMEM132B
GH12J125110 Enhancer 1 Ensembl ENCODE dbSUPER 16.7 +45.6 45648 1.4 PRDM10 CEBPB HMBOX1 NFE2 ZNF316 ZSCAN5C ATF3 ZBTB48 MAFG ARNT AACS LOC100131779 piR-40216-001 RF00017-1334 TMEM132B
GH12J125048 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas 8.4 -15.8 -15764 1.2 SP1 CREB1 PRDM10 ZNF629 ZNF692 POLR2A FOS DDX20 ZIC2 PKNOX1 HSALNG0094875 NCOR2 AACS lnc-AACS-5 BRI3BP
GH12J125078 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 8.3 +14.7 14661 2.2 ZNF600 NR3C1 CEBPB CHD2 MAX MXI1 EP300 POLR2A ZNF189 STAT3 AACS LOC105370052 TMEM132B
GH12J125092 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 6.5 +28.4 28417 3.7 HNRNPL GATAD2A RCOR2 ZIC2 ZSCAN4 RBFOX2 GABPA CEBPA FOXK2 MNT AACS TMEM132B RF00017-1334 piR-40216-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AACS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AACS

Top Transcription factor binding sites by QIAGEN in the AACS gene promoter:
  • CUTL1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXF2
  • USF-1
  • USF1

Genomic Locations for AACS Gene

Genomic Locations for AACS Gene
chr12:125,065,434-125,143,333
(GRCh38/hg38)
Size:
77,900 bases
Orientation:
Plus strand
chr12:125,549,925-125,627,873
(GRCh37/hg19)
Size:
77,949 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; Evidence={ECO:0000305}; Sequence=BAB14793.1; Type=Frameshift; 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 Lys95
  • Modification sites at PhosphoSitePlus

Other Protein References for AACS Gene

Domains & Families for AACS Gene

Gene Families for AACS Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for AACS Gene

InterPro:
Blocks:
  • AMP-binding signature
ProtoNet:

Suggested Antigen Peptide Sequences for AACS Gene

GenScript: Design optimal peptide antigens:
  • Protein sur-5 homolog (AACS_HUMAN)
  • AACS protein (Q49AJ4_HUMAN)

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 Function:
Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetoacetate + ATP + CoA = acetoacetyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:16117, ChEBI:CHEBI:13705, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57286, ChEBI:CHEBI:57287, ChEBI:CHEBI:456215; EC=6.2.1.16;.

Enzyme Numbers (IUBMB) for AACS Gene

Phenotypes From GWAS Catalog for AACS Gene

Gene Ontology (GO) - Molecular Function for AACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

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
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
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:0010243 response to organonitrogen compound 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, Investigational Nutra 0
Acetoacetic acid Experimental Pharma 0
Acetoacetyl-CoA Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with AACS: view

Transcripts for AACS Gene

mRNA/cDNA for AACS Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AACS

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

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for AACS Gene

  • Nervous system(4.9)
  • Stomach(4.5)
  • Kidney(4.4)
  • Skin(2.7)
  • Intestine(2.3)
  • Liver(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with AACS: view

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
Chimpanzee
(Pan troglodytes)
Mammalia AACS 30 31
  • 99.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AACS 30 31
  • 86.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AACS 30
  • 85.98 (n)
Oppossum
(Monodelphis domestica)
Mammalia AACS 31
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Aacs 30 17 31
  • 84.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aacs 30
  • 84.52 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 78 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves AACS 30 31
  • 77.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AACS 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aacs 30
  • 72.15 (n)
Str.18908 30
Zebrafish
(Danio rerio)
Actinopterygii aacs 30 31
  • 72.59 (n)
OneToOne
zgc56105 30
Worm
(Caenorhabditis elegans)
Secernentea sur-5 30 31
  • 49.35 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACS2 31
  • 20 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU00446 30
  • 51.14 (n)
Species where no ortholog for AACS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for AACS: view image

Paralogs for AACS Gene

(1) SIMAP similar genes for AACS Gene using alignment to 13 proteins:

  • AACS_HUMAN
  • E7EW25_HUMAN
  • F5GWW7_HUMAN
  • F5GYN1_HUMAN
  • F5GYW2_HUMAN
  • F5H3E3_HUMAN
  • F5H4V2_HUMAN
  • F5H6X9_HUMAN
  • F5H790_HUMAN
  • F5H8J5_HUMAN
  • F8W8B5_HUMAN
  • L8ECK1_HUMAN
  • Q49AJ4_HUMAN

Pseudogenes.org Pseudogenes for AACS Gene

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

Variants for AACS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AACS Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
714324 Benign: not provided 125,136,673(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
726069 Benign: not provided 125,134,836(+) G/A SYNONYMOUS_VARIANT
740263 Likely Benign: not provided 125,118,730(+) G/A SYNONYMOUS_VARIANT
770614 Benign: not provided 125,107,181(+) C/T SYNONYMOUS_VARIANT
778668 Benign: not provided 125,076,572(+) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AACS Gene

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)

Additional Variant Information for AACS Gene

Human Gene Mutation Database (HGMD)
AACS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AACS

SNP Genotyping and Copy Number Assay Products

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

Disorders for AACS Gene

MalaCards: The human disease database

(7) MalaCards diseases for AACS Gene - From: DISEASES

Disorder Aliases PubMed IDs
ampulla of vater cancer
  • malignant tumour of ampulla of vater
spinal muscular atrophy, type iii
  • sma3
spinal muscular atrophy, type ii
  • sma2
childhood spinal muscular atrophy
  • spinal muscular atrophies of childhood
enchondromatosis, multiple, ollier type
  • osteochondromatosis
- elite association - COSMIC cancer census association via MalaCards
Search AACS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AACS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AACS: view

No data available for 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 (Biochemical pharmacology 2003) 2 3 4 23
  2. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PMID: 17762044) Watkins PA … Pevsner J (Journal of lipid research 2007) 2 3 4
  3. Transcriptional regulation of the human acetoacetyl-CoA synthetase gene by PPARgamma. (PMID: 20102333) Aguiló F … Haro D (The Biochemical journal 2010) 3 23
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for AACS Gene

Sources for AACS Gene