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Aliases for ACAT1 Gene

Aliases for ACAT1 Gene

  • Acetyl-CoA Acetyltransferase 1 2 3
  • Acetyl-Coenzyme A Acetyltransferase 1 2 3
  • Acetoacetyl Coenzyme A Thiolase 2 3
  • Acetoacetyl-CoA Thiolase 3 4
  • EC 2.3.1.9 4 63
  • ACAT 3 4
  • MAT 3 4
  • T2 3 4
  • Acetyl-CoA Acetyltransferase, Mitochondrial 3
  • Mitochondrial Acetoacetyl-CoA Thiolase 3
  • EC 2.3.1 63
  • 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 hypermethioninemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and coenzyme binding. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACAT1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ACAT1 Gene at MOPED

Post-translational modifications for ACAT1 Gene

  • Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
  • Ubiquitination at Lys174 and Lys181
  • Modification sites at PhosphoSitePlus

Other Protein References for ACAT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains 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 :
  • P24752
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 --
GO:0003985 acetyl-CoA C-acetyltransferase activity EXP --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups --
GO:0019899 enzyme binding IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with ACAT1: view

Phenotypes for ACAT1 Gene

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

Animal Model Products

CRISPR Products

miRNA for ACAT1 Gene

miRTarBase miRNAs that target ACAT1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACAT1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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
mitochondrion 5
cytosol 2
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 --
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 for ACAT1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ACAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0007420 brain development IEA --
GO:0008152 metabolic process --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0009725 response to hormone IEA --
genes like me logo Genes that share ontologies with ACAT1: view

Compounds for ACAT1 Gene

(4) HMDB Compounds for ACAT1 Gene

Compound Synonyms Cas Number PubMed IDs
3-Oxohexanoyl-CoA
  • 3-Oxohexanoyl-Coenzyme A
19774-86-8
Acetoacetyl-CoA
  • 3-acetoacetyl-CoA
1420-36-6
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0

(1) Drugbank Compounds for ACAT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Sulfasalazine
  • Sulfasalazin
599-79-1 target inhibitor

(5) Novoseek inferred chemical compound relationships for ACAT1 Gene

Compound -log(P) Hits PubMed IDs
acetoacetyl coa 98.2 55
isoleucine 72.3 9
acetyl-coa 44.7 3
potassium 18.3 5
cholesterol 0 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACAT1

Primer Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (8.7), Heart - Left Ventricle (4.7), and Muscle - Skeletal (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACAT1 Gene

SOURCE GeneReport for Unigene cluster for ACAT1 Gene Hs.232375

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

In Situ Assay Products

No data available for 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 35
  • 99.84 (n)
  • 100 (a)
ACAT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACAT1 35
  • 92.5 (n)
  • 91.71 (a)
ACAT1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAT1 35
  • 85.51 (n)
  • 88.16 (a)
ACAT1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acat1 35
  • 85.69 (n)
  • 84.2 (a)
Acat1 16
Acat1 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACAT1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Acat1 35
  • 84.5 (n)
  • 85.96 (a)
chicken
(Gallus gallus)
Aves ACAT1 35
  • 76.09 (n)
  • 78.86 (a)
ACAT1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAT1 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25595 35
tropical clawed frog
(Silurana tropicalis)
Amphibia acat1 35
  • 72.38 (n)
  • 77.05 (a)
Str.5645 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10615 35
zebrafish
(Danio rerio)
Actinopterygii acat1 35
  • 71.06 (n)
  • 78.42 (a)
acat1 36
  • 77 (a)
OneToOne
wufb49g01 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011329 35
  • 58.57 (n)
  • 66.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10932 35
  • 59.51 (n)
  • 65.68 (a)
CG10932 36
  • 65 (a)
OneToOne
CG10932 37
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea kat-1 35
  • 57.43 (n)
  • 55.18 (a)
kat-1 36
  • 54 (a)
OneToMany
T02G5.7 36
  • 49 (a)
OneToMany
T02G5.7 37
  • 49 (a)
T02G5.8 37
  • 54 (a)
T02G5.4 37
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR165C 35
  • 51.03 (n)
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 35
  • 55.44 (n)
  • 50 (a)
ERG10 36
  • 48 (a)
OneToMany
ERG10 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12056g 35
  • 53.37 (n)
  • 46.89 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACAT2 35
  • 56.79 (n)
  • 52.32 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5436 35
corn
(Zea mays)
Liliopsida Zm.16489 35
rice
(Oryza sativa)
Liliopsida Os.12579 35
Os09g0252100 35
  • 56.13 (n)
  • 49.74 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02571 35
  • 51.98 (n)
  • 51.29 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg10 35
  • 55.79 (n)
  • 51.55 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2943 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToOne
Species with no ortholog for ACAT1:
  • 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

Selected 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 MAF
rs1111610 -- 108,120,896(-) ttttt(C/T)gtaga upstream-variant-2KB
rs1550608 -- 108,135,739(-) GTGAC(C/T)CTTGT intron-variant
rs1914868 -- 108,141,178(+) agcta(A/G)gtttg intron-variant
rs1973722 -- 108,135,638(-) gtgat(C/T)tgccc intron-variant
rs2280332 -- 108,147,989(+) CCTGG(A/C)GTTTG utr-variant-3-prime, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv480 CNV Insertion 18451855

Relevant External Links for ACAT1 Gene

HapMap Linkage Disequilibrium report
ACAT1
Human Gene Mutation Database (HGMD)
ACAT1

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

Disorders for ACAT1 Gene

(1) OMIM Diseases for ACAT1 Gene (607809)

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.

(1) University of Copenhagen DISEASES for ACAT1 Gene

(4) Novoseek inferred disease relationships for ACAT1 Gene

Disease -log(P) Hits PubMed IDs
beta-ketothiolase deficiency 98.7 30
ketoacidosis 51.9 1
ataxia telangiectasia 39.3 1
metabolic disorder 30.9 3

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
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 23
  2. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. (PMID: 7728148) Wakazono A. … Hashimoto T. (Hum. Mutat. 1995) 3 4 23
  3. 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 23
  4. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. (PMID: 1346617) Fukao T. … Hashimoto T. (J. Clin. Invest. 1992) 3 4 23
  5. Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene. (PMID: 1684944) Kano M. … Hashimoto T. (Gene 1991) 3 4 23

Products for ACAT1 Gene

  • Addgene plasmids for ACAT1

Sources for ACAT1 Gene

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