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Aliases for ACAT1 Gene

Aliases for ACAT1 Gene

  • Acetyl-CoA Acetyltransferase 1 2 3 5
  • Acetyl-Coenzyme A Acetyltransferase 1 2 3
  • Acetoacetyl Coenzyme A Thiolase 2 3
  • Acetoacetyl-CoA Thiolase 3 4
  • EC 2.3.1.9 4 61
  • ACAT 3 4
  • MAT 3 4
  • T2 3 4
  • Acetyl-CoA Acetyltransferase, Mitochondrial 3
  • Mitochondrial Acetoacetyl-CoA Thiolase 3
  • Testicular Tissue Protein Li 198 3
  • EC 2.3.1 61
  • THIL 3

External Ids for ACAT1 Gene

Previous HGNC Symbols for ACAT1 Gene

  • ACAT

Previous GeneCards Identifiers for ACAT1 Gene

  • GC11P110186
  • GC11P109348
  • GC11P108026
  • GC11P107529
  • GC11P107499
  • GC11P103917
  • GC11P107992

Summaries for ACAT1 Gene

Entrez Gene Summary for ACAT1 Gene

  • This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]

GeneCards Summary for ACAT1 Gene

ACAT1 (Acetyl-CoA Acetyltransferase 1) is a Protein Coding gene. Diseases associated with ACAT1 include Alpha-Methylacetoacetic Aciduria and Ketothiolase Deficiency. Among its related pathways are Metabolism and superpathway of tryptophan utilization. GO annotations related to this gene include protein homodimerization activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ACAT2.

UniProtKB/Swiss-Prot for ACAT1 Gene

  • Plays a major role in ketone body metabolism.

Gene Wiki entry for ACAT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAT1 Gene

Genomics for ACAT1 Gene

Regulatory Elements for ACAT1 Gene

Enhancers for ACAT1 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
GH11F108120 0.9 ENCODE 31.2 +0.2 191 2.3 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS ACAT1 DDX10 KDELC2 ENSG00000255467 ATM
GH11F108114 0.9 Ensembl ENCODE 29.6 -5.8 -5808 1.8 ZNF146 CEBPB RAD21 ATF2 YY1 RAD51 ZNF366 ATF3 ZBTB33 ZNF600 ACAT1 ENSG00000200855
GH11F108233 0.5 Ensembl ENCODE 28 +117.1 117090 11.1 ZNF48 ZBTB40 RARA YY1 EGR1 CBX5 SCRT2 ETV6 CREM CBFB ACAT1 ATM ENSG00000255467 DDX10 C11orf65 KDELC2 ENSG00000206967 GC11M108232 PIR35860
GH11F108069 0.4 ENCODE 24.2 -51.4 -51408 1.0 IRF2 STAT1 ATF3 STAT2 IRF1 ATF2 ACAT1 ENSG00000255467 GC11P108085 CUL5
GH11F108219 0.2 ENCODE 23 +104.3 104346 12.2 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A YBX1 DMAP1 ZNF2 ACAT1 KDELC2 ENSG00000255467 DDX10 C11orf65 ENSG00000206967 GC11M108232 NPAT
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACAT1 on UCSC Golden Path with GeneCards custom track

Promoters for ACAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000568498 384 1801 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 KLF13

Genomic Location for ACAT1 Gene

Chromosome:
11
Start:
108,121,516 bp from pter
End:
108,148,168 bp from pter
Size:
26,653 bases
Orientation:
Plus strand

Genomic View for ACAT1 Gene

Genes around ACAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAT1 Gene

Proteins for ACAT1 Gene

  • Protein details for ACAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24752-THIL_HUMAN
    Recommended name:
    Acetyl-CoA acetyltransferase, mitochondrial
    Protein Accession:
    P24752
    Secondary Accessions:
    • B2R6H1
    • G3XAB4
    • Q96FG8

    Protein attributes for ACAT1 Gene

    Size:
    427 amino acids
    Molecular mass:
    45200 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ACAT1 Gene

    Alternative splice isoforms for ACAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACAT1 Gene

Post-translational modifications for ACAT1 Gene

  • Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACAT1 Gene

Suggested Antigen Peptide Sequences for ACAT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P24752

UniProtKB/Swiss-Prot:

THIL_HUMAN :
  • Belongs to the thiolase family.
Family:
  • Belongs to the thiolase family.
genes like me logo Genes that share domains with ACAT1: view

No data available for Gene Families for ACAT1 Gene

Function for ACAT1 Gene

Molecular function for ACAT1 Gene

GENATLAS Biochemistry:
acetoacetyl-CoA thiolase 1,branched chain,mitochondrial,isoleucine catabolism,fatty acid beta-oxidation
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4 uM for acetoacetyl coenzyme A {ECO:0000269 PubMed:17371050}; KM=20 uM for coenzyme A {ECO:0000269 PubMed:17371050}; KM=8 uM for 2-methylacetoacetyl coenzyme A {ECO:0000269 PubMed:17371050}; KM=508 uM for acetyl coenzyme A {ECO:0000269 PubMed:17371050};
UniProtKB/Swiss-Prot CatalyticActivity:
2 acetyl-CoA = CoA + acetoacetyl-CoA.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by potassium ions, but not sodium ions.
UniProtKB/Swiss-Prot Function:
Plays a major role in ketone body metabolism.

Enzyme Numbers (IUBMB) for ACAT1 Gene

Gene Ontology (GO) - Molecular Function for ACAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003985 acetyl-CoA C-acetyltransferase activity IEA,IMP 1979337
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
genes like me logo Genes that share ontologies with ACAT1: view
genes like me logo Genes that share phenotypes with ACAT1: view

Human Phenotype Ontology for ACAT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ACAT1 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACAT1

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACAT1 Gene

Localization for ACAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAT1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACAT1 Gene COMPARTMENTS Subcellular localization image for ACAT1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
peroxisome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IBA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ACAT1: view

Pathways & Interactions for ACAT1 Gene

genes like me logo Genes that share pathways with ACAT1: view

Gene Ontology (GO) - Biological Process for ACAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006085 acetyl-CoA biosynthetic process IDA 17371050
GO:0006550 isoleucine catabolic process TAS 17371050
GO:0006635 fatty acid beta-oxidation IBA --
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with ACAT1: view

No data available for SIGNOR curated interactions for ACAT1 Gene

Drugs & Compounds for ACAT1 Gene

(6) Drugs for ACAT1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulfasalazine Approved Pharma Inhibition, Inhibitor, inhibitor, Target NF-κB activation inhibitor 61
Acetoacetyl-CoA Experimental Pharma 0
Coenzyme A Nutra 0

(4) Additional Compounds for ACAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
3-Oxohexanoyl-CoA
  • 3-Ketohexanoyl CoA.
  • 3-Ketohexanoyl Coenzyme A.
  • 3-Oxohexanoyl-CoA
  • 3-Oxohexanoyl-Coenzyme A
  • Ketohexanoyl-CoA
19774-86-8
Butyryl-CoA
  • Butanoyl-CoA
  • Butanoyl-Coenzyme A
  • Butyryl-CoA
  • Butyryl-coenzyme A
2140-48-9
genes like me logo Genes that share compounds with ACAT1: view

Transcripts for ACAT1 Gene

Unigene Clusters for ACAT1 Gene

Acetyl-CoA acetyltransferase 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACAT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACAT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: -
SP5: - -
SP6:

Relevant External Links for ACAT1 Gene

GeneLoc Exon Structure for
ACAT1
ECgene alternative splicing isoforms for
ACAT1

Expression for ACAT1 Gene

mRNA expression in normal human tissues for ACAT1 Gene

mRNA differential expression in normal tissues according to GTEx for ACAT1 Gene

This gene is overexpressed in Liver (x8.7), Heart - Left Ventricle (x4.7), and Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for ACAT1 Gene

This gene is overexpressed in Liver, secretome (7.2), Kidney (6.6), and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACAT1 Gene



Protein tissue co-expression partners for ACAT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACAT1 Gene:

ACAT1

SOURCE GeneReport for Unigene cluster for ACAT1 Gene:

Hs.232375
genes like me logo Genes that share expression patterns with ACAT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACAT1 Gene

Orthologs for ACAT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACAT1 34 35
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia ACAT1 34 35
  • 92.5 (n)
oppossum
(Monodelphis domestica)
Mammalia ACAT1 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acat1 34 16 35
  • 85.69 (n)
dog
(Canis familiaris)
Mammalia ACAT1 34 35
  • 85.51 (n)
rat
(Rattus norvegicus)
Mammalia Acat1 34
  • 84.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACAT1 34 35
  • 76.09 (n)
lizard
(Anolis carolinensis)
Reptilia ACAT1 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acat1 34
  • 72.38 (n)
Str.5645 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25595 34
zebrafish
(Danio rerio)
Actinopterygii acat1 34 35
  • 71.06 (n)
wufb49g01 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10615 34
fruit fly
(Drosophila melanogaster)
Insecta CG10932 36 34 35
  • 59.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011329 34
  • 58.57 (n)
worm
(Caenorhabditis elegans)
Secernentea kat-1 34 35
  • 57.43 (n)
T02G5.8 36
  • 54 (a)
T02G5.7 36 35
  • 49 (a)
T02G5.4 36
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 34 35 37
  • 55.44 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12056g 34
  • 53.37 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR165C 34
  • 51.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACAT2 34
  • 56.79 (n)
rice
(Oryza sativa)
Liliopsida Os09g0252100 34
  • 56.13 (n)
Os.12579 34
barley
(Hordeum vulgare)
Liliopsida Hv.5436 34
corn
(Zea mays)
Liliopsida Zm.16489 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg10 34
  • 55.79 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02571 34
  • 51.98 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2943 34
Species where no ortholog for ACAT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACAT1 Gene

ENSEMBL:
Gene Tree for ACAT1 (if available)
TreeFam:
Gene Tree for ACAT1 (if available)

Paralogs for ACAT1 Gene

Paralogs for ACAT1 Gene

(4) SIMAP similar genes for ACAT1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ACAT1: view

Variants for ACAT1 Gene

Sequence variations from dbSNP and Humsavar for ACAT1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs120074140 Pathogenic, 3-ketothiolase deficiency (3KTD) [MIM:203750] 108,146,334(+) GAGGA(A/G)CTGTT reference, missense
rs120074141 Pathogenic, 3-ketothiolase deficiency (3KTD) [MIM:203750] 108,139,009(+) AAGAC(A/G)GGCTA reference, missense
rs120074143 Pathogenic, 3-ketothiolase deficiency (3KTD) [MIM:203750] 108,146,332(+) TGGAG(G/T)AGCTG reference, missense
rs120074145 Pathogenic, 3-ketothiolase deficiency (3KTD) [MIM:203750] 108,134,260(+) GGGTA(A/G)TGTTC reference, missense
rs120074146 Pathogenic, 3-ketothiolase deficiency (3KTD) [MIM:203750] 108,142,545(+) AAGAA(C/T)AGTAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ACAT1 Gene

Variant ID Type Subtype PubMed ID
dgv1278n100 CNV gain 25217958
nsv480 CNV insertion 18451855
nsv481229 CNV novel sequence insertion 20440878

Variation tolerance for ACAT1 Gene

Residual Variation Intolerance Score: 12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.93; 83.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAT1 Gene

Human Gene Mutation Database (HGMD)
ACAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAT1 Gene

Disorders for ACAT1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ACAT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-methylacetoacetic aciduria
  • beta-ketothiolase deficiency
ketothiolase deficiency
  • beta-ketothiolase deficiency
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency
  • methionine adenosyltransferase deficiency, autosomal recessive
hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase
  • glycine n-methyltransferase deficiency
sitosterolemia
  • beta-sitosterolemia
- elite association - COSMIC cancer census association via MalaCards
Search ACAT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THIL_HUMAN
  • 3-ketothiolase deficiency (3KTD) [MIM:203750]: An inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. {ECO:0000269 PubMed:1346617, ECO:0000269 PubMed:1715688, ECO:0000269 PubMed:7728148, ECO:0000269 PubMed:9744475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACAT1 Gene

beta-ketothiolase deficiency,recurrent acidosis,ketosis with organic aciduria

Relevant External Links for ACAT1

Genetic Association Database (GAD)
ACAT1
Human Genome Epidemiology (HuGE) Navigator
ACAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACAT1
genes like me logo Genes that share disorders with ACAT1: view

Publications for ACAT1 Gene

  1. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3- ketothiolase deficiency. (PMID: 1979337) Fukao T. … Hashimoto T. (J. Clin. Invest. 1990) 2 3 4 22 64
  2. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (PMID: 20156697) Fukao T. … Kondo N. (Mol. Genet. Metab. 2010) 3 22 46 64
  3. Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. (PMID: 17371050) Haapalainen A.M. … Wierenga R.K. (Biochemistry 2007) 3 4 22 64
  4. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. (PMID: 9744475) Fukao T. … Kondo N. (Hum. Mutat. 1998) 3 4 22 64
  5. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (PMID: 7749408) Fukao T. … Hashimoto T. (Hum. Mutat. 1995) 3 4 22 64

Products for ACAT1 Gene

Sources for ACAT1 Gene

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