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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 63
  • ACAT 3 4
  • MAT 3 4
  • T2 3 4
  • Mitochondrial Acetoacetyl-CoA Thiolase 3
  • Testicular Tissue Protein Li 198 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 ketothiolase deficiency. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. 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

Promoters for ACAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACAT1 on UCSC Golden Path with GeneCards custom track

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

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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACAT1 Gene

Antibody Products

Domains & Families for ACAT1 Gene

Protein 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 :
  • 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:0019899 enzyme binding 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

  • Taconic Biosciences Mouse Models for ACAT1

miRNA for ACAT1 Gene

Inhibitory RNA Products

In Situ Assay Products

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

No data available for Gene Ontology (GO) - Cellular Components for ACAT1 Gene

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:0007420 brain development IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0014070 response to organic cyclic compound IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
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: HMDB, Novoseek, DGIdb, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulfasalazine Approved Pharma Inhibition, Inhibitor, inhibitor, Target NF-κB activation inhibitor 56
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

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, MOPED, and MaxQB for ACAT1 Gene



SOURCE GeneReport for Unigene cluster for ACAT1 Gene Hs.232375

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

Protein tissue co-expression partners for ACAT1 Gene

- Elite partner

Primer Products

In Situ Assay 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
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
chimpanzee
(Pan troglodytes)
Mammalia ACAT1 35
  • 99.84 (n)
  • 100 (a)
ACAT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acat1 35
  • 84.5 (n)
  • 85.96 (a)
oppossum
(Monodelphis domestica)
Mammalia ACAT1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
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
tropical clawed frog
(Silurana tropicalis)
Amphibia acat1 35
  • 72.38 (n)
  • 77.05 (a)
Str.5645 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25595 35
zebrafish
(Danio rerio)
Actinopterygii acat1 35
  • 71.06 (n)
  • 78.42 (a)
wufb49g01 35
acat1 36
  • 77 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10615 35
fruit fly
(Drosophila melanogaster)
Insecta CG10932 37
  • 65 (a)
CG10932 35
  • 59.51 (n)
  • 65.68 (a)
CG10932 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011329 35
  • 58.57 (n)
  • 66.33 (a)
worm
(Caenorhabditis elegans)
Secernentea T02G5.4 37
  • 40 (a)
T02G5.7 37
  • 49 (a)
T02G5.8 37
  • 54 (a)
kat-1 35
  • 57.43 (n)
  • 55.18 (a)
kat-1 36
  • 54 (a)
OneToMany
T02G5.7 36
  • 49 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR165C 35
  • 51.03 (n)
  • 50 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12056g 35
  • 53.37 (n)
  • 46.89 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 35
  • 55.44 (n)
  • 50 (a)
ERG10 36
  • 48 (a)
OneToMany
ERG10 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ACAT2 35
  • 56.79 (n)
  • 52.32 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5436 35
rice
(Oryza sativa)
Liliopsida Os.12579 35
Os09g0252100 35
  • 56.13 (n)
  • 49.74 (a)
corn
(Zea mays)
Liliopsida Zm.16489 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2943 35
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 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

(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
rs3741056 - 108,121,619(+) TGCTG(C/G)CGGCA upstream-variant-2KB, reference, missense
VAR_007498 3-ketothiolase deficiency (3KTD)
VAR_007499 3-ketothiolase deficiency (3KTD)
VAR_007500 3-ketothiolase deficiency (3KTD)
VAR_007501 3-ketothiolase deficiency (3KTD)

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

Variant ID Type Subtype PubMed ID
nsv480 CNV Insertion 18451855

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

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

MalaCards: The human disease database

(4) 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
intestinal perforation
  • perforation of intestine
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 23 67
  2. Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations. (PMID: 20046049) ThA1mmler S. … de Ricaud D. (Tohoku J. Exp. Med. 2010) 3 23
  3. 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 23
  4. A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene. (PMID: 18511318) Fukao T. … Kondo N. (Mol. Genet. Metab. 2008) 3 23
  5. Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure. (PMID: 17236799) Sakurai S. … Kondo N. (Mol. Genet. Metab. 2007) 3 23

Products for ACAT1 Gene

Sources for ACAT1 Gene

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