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. ... See more...

Aliases for ACAT1 Gene

Aliases for ACAT1 Gene

  • Acetyl-CoA Acetyltransferase 1 2 3 5
  • Acetyl-CoA Acetyltransferase, Mitochondrial 3 4
  • Acetyl-Coenzyme A Acetyltransferase 1 2 3
  • Acetoacetyl Coenzyme A Thiolase 2 3
  • Acetoacetyl-CoA Thiolase 3 4
  • EC 2.3.1.9 4 51
  • ACAT 3 4
  • THIL 2 3
  • MAT 3 4
  • T2 3 4
  • Mitochondrial Acetoacetyl-CoA Thiolase 3
  • Testicular Tissue Protein Li 198 3
  • EC 2.3.1 51
  • ACAT1 5

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 Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Lysine degradation and Ketone body metabolism. Gene Ontology (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 Summary for ACAT1 Gene

  • This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (PubMed:1715688, PubMed:7728148, PubMed:9744475). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (PubMed:1715688, PubMed:7728148, PubMed:9744475). The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA (PubMed:17371050). Thereby, it plays a major role in ketone body metabolism (PubMed:17371050, PubMed:1715688, PubMed:7728148, PubMed:9744475).

Gene Wiki entry for ACAT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAT1 Gene

Genomics for ACAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACAT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACAT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACAT1

Top Transcription factor binding sites by QIAGEN in the ACAT1 gene promoter:
  • AREB6
  • Cdc5
  • COMP1
  • FOXL1
  • FOXO1
  • FOXO1a
  • GR
  • GR-alpha
  • GR-beta
  • Hlf

Genomic Locations for ACAT1 Gene

Genomic Locations for ACAT1 Gene
chr11:108,116,695-108,148,822
(GRCh38/hg38)
Size:
32,128 bases
Orientation:
Plus strand
chr11:107,992,243-108,018,895
(GRCh37/hg19)
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

Selected DME Specific Peptides for ACAT1 Gene

P24752:
  • TKLGSIA
  • STLNDGAAALVLMTA
  • EDEEYKRVDFSK
  • RTPIGSF
  • AGGMESMS
  • RLNVTPLA
  • IVKDGLTDVYNK
  • GGAVSLGHP
  • VDFSKVPKLK
  • KKEDIAMWE
  • CNGGGGAS
  • GTVTAAN
  • NKVCASGMK
  • GEGQAPTRQA

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

Domains & Families for ACAT1 Gene

Gene Families for ACAT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ACAT1 Gene

Suggested Antigen Peptide Sequences for ACAT1 Gene

GenScript: Design optimal peptide antigens:
  • ACAT1 protein (Q96FG8_HUMAN)
  • T2 (THIL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24752

UniProtKB/Swiss-Prot:

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

Function for ACAT1 Gene

Molecular function for ACAT1 Gene

UniProtKB/Swiss-Prot Function:
This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (PubMed:1715688, PubMed:7728148, PubMed:9744475). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (PubMed:1715688, PubMed:7728148, PubMed:9744475). The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA (PubMed:17371050). Thereby, it plays a major role in ketone body metabolism (PubMed:17371050, PubMed:1715688, PubMed:7728148, PubMed:9744475).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 acetyl-CoA = acetoacetyl-CoA + CoA; Xref=Rhea:RHEA:21036, ChEBI:CHEBI:57286, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.9; Evidence={ECO:0000255|PROSITE-ProRule:PRU10020, ECO:0000269|PubMed:1715688, ECO:0000269|PubMed:17371050, ECO:0000269|PubMed:7728148, ECO:0000269|PubMed:9744475};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + propanoyl-CoA = 2-methyl-3-oxobutanoyl-CoA + CoA; Xref=Rhea:RHEA:30719, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57335, ChEBI:CHEBI:57392; Evidence={ECO:0000269|PubMed:17371050};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4 uM for acetoacetyl-CoA (at 25 degrees Celsius in the presence of 40 mM KCl) {ECO:0000269|PubMed:17371050}; KM=8 uM for acetoacetyl-CoA (at 25 degrees Celsius in the presence of 40 mM NaCl) {ECO:0000269|PubMed:17371050}; KM=20 uM for CoA (at 25 degrees Celsius in the presence of 40 mM KCl) {ECO:0000269|PubMed:17371050}; KM=66 uM for CoA (at 25 degrees Celsius in the presence of 40 mM NaCl) {ECO:0000269|PubMed:17371050}; KM=8 uM for 2-methyl-3-oxobutanoyl-CoA (at 25 degrees Celsius in the presence of 40 mM KCl) {ECO:0000269|PubMed:17371050}; KM=8 uM for 2-methyl-3-oxobutanoyl-CoA (at 25 degrees Celsius in the presence of 40 mM NaCl) {ECO:0000269|PubMed:17371050}; KM=508 uM for acetyl-CoA (at 25 degrees Celsius in the presence of 40 mM KCl) {ECO:0000269|PubMed:17371050}; Note=kcat is 21 sec(-1) for the degradation of acetoacetyl-CoA (at 25 degrees Celsius in the presence of 40 mM KCl) (PubMed:17371050). kcat is 8 sec(-1) for the degradation of acetoacetyl-CoA (at 25 degrees Celsius in the presence of 40 mM NaCl) (PubMed:17371050). kcat is 61 sec(-1) for the degradation of 2-methylacetoacetyl-CoA (at 25 degrees Celsius in the presence of 40 mM KCl) (PubMed:17371050). kcat is 14 sec(-1) for the degradation of 2-methylacetoacetyl-CoA (at 25 degrees Celsius in the presence of 40 mM NaCl) (PubMed:17371050). kcat is 3.5 sec(-1) for the synthesis of acetoacetyl-CoA (at 25 degrees Celsius in the presence of 40 mM KCl) (PubMed:17371050). {ECO:0000269|PubMed:17371050};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by potassium ions, but not sodium ions.
GENATLAS Biochemistry:
acetoacetyl-CoA thiolase 1,branched chain,mitochondrial,isoleucine catabolism,fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACAT1 Gene

Phenotypes From GWAS Catalog 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 IBA,IMP 1979337
GO:0003988 acetyl-CoA C-acyltransferase activity IBA 21873635
GO:0016453 C-acetyltransferase activity IDA 17371050
GO:0016740 transferase activity 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAT1

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
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 ACAT1 gene
Compartment Confidence
mitochondrion 5
extracellular 4
cytosol 3
peroxisome 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 1979337
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome HDA 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

Pathways by source for ACAT1 Gene

1 GeneGo (Thomson Reuters) pathway for ACAT1 Gene
  • Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
1 Cell Signaling Technology pathway for ACAT1 Gene

UniProtKB/Swiss-Prot P24752-THIL_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulfasalazine Approved Pharma Inhibitor, Inhibition, Target, inhibitor NF-κB activation inhibitor 84
cannabidiol Approved, Investigational Pharma Agonist, Partial agonist, Antagonist, Channel blocker, Activator, Target, inhibitor 0
Medical Cannabis Experimental, Investigational Pharma Target, inhibitor 0
Acetoacetyl-CoA Experimental Pharma 0
Nabiximols Investigational Pharma Target, inhibitor 59

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

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

Transcripts for ACAT1 Gene

mRNA/cDNA for ACAT1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
22 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 ACAT1

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

Expression for ACAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ACAT1 Gene



Protein tissue co-expression partners for ACAT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACAT1

SOURCE GeneReport for Unigene cluster for ACAT1 Gene:

Hs.232375

Evidence on tissue expression from TISSUES for ACAT1 Gene

  • Liver(4.7)
  • Heart(4.7)
  • Nervous system(4.5)
  • Kidney(3.1)
  • Muscle(3)
  • Adrenal gland(2.5)
  • Skin(2.4)
  • Blood(2.3)
  • Stomach(2.2)
  • Pancreas(2.2)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • nervous
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with ACAT1: view

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 30 31
  • 99.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACAT1 30 31
  • 92.5 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACAT1 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Acat1 30 17 31
  • 85.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACAT1 30 31
  • 85.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acat1 30
  • 84.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ACAT1 30 31
  • 76.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACAT1 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acat1 30
  • 72.38 (n)
Str.5645 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25595 30
Zebrafish
(Danio rerio)
Actinopterygii acat1 30 31
  • 71.06 (n)
OneToOne
wufb49g01 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10615 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG10932 30 31 32
  • 59.51 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011329 30
  • 58.57 (n)
Worm
(Caenorhabditis elegans)
Secernentea kat-1 30 31
  • 57.43 (n)
OneToMany
T02G5.8 32
  • 54 (a)
T02G5.7 31 32
  • 49 (a)
OneToMany
T02G5.4 32
  • 40 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 30 31 33
  • 55.44 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12056g 30
  • 53.37 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR165C 30
  • 51.03 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ACAT2 30
  • 56.79 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0252100 30
  • 56.13 (n)
Os.12579 30
Barley
(Hordeum vulgare)
Liliopsida Hv.5436 30
Corn
(Zea mays)
Liliopsida Zm.16489 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 65 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg10 30
  • 55.79 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02571 30
  • 51.98 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2943 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for ACAT1: view image

Paralogs for ACAT1 Gene

Paralogs for ACAT1 Gene

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

  • THIL_HUMAN
  • E9PKF3_HUMAN
  • E9PRQ6_HUMAN
  • G3XAB4_HUMAN
  • H0YEL7_HUMAN
  • Q96FG8_HUMAN
genes like me logo Genes that share paralogs with ACAT1: view

Variants for ACAT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACAT1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
645647 Uncertain Significance: Deficiency of acetyl-CoA acetyltransferase 108,134,256(+) G/A MISSENSE_VARIANT
647315 Uncertain Significance: Deficiency of acetyl-CoA acetyltransferase 108,140,107(+) C/G MISSENSE_VARIANT
656907 Uncertain Significance: Deficiency of acetyl-CoA acetyltransferase 108,146,301(+) A/G MISSENSE_VARIANT
666460 Pathogenic: Deficiency of acetyl-CoA acetyltransferase 108,121,607(+) A/G INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
666461 Pathogenic: Deficiency of acetyl-CoA acetyltransferase 108,121,608(+) T/C INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ACAT1 Gene

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)

Additional Variant Information for ACAT1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACAT1 Gene

MalaCards: The human disease database

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

- 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 autosomal recessive 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

Additional Disease Information for ACAT1

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 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 (The Journal of clinical investigation 1990) 2 3 4 23
  2. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (PMID: 20156697) Fukao T … Kondo N (Molecular genetics and metabolism 2010) 3 23 41
  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 AM … Wierenga RK (Biochemistry 2007) 3 4 23
  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 (Human mutation 1998) 3 4 23
  5. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. (PMID: 7728148) Wakazono A … Hashimoto T (Human mutation 1995) 3 4 23

Products for ACAT1 Gene

Sources for ACAT1 Gene