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ACAT1 acetyl-CoA acetyltransferase 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu25199 NM_000019 Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu45759 XM_006718834 PREDICTED: Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu45759 XM_006718835 PREDICTED: Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu25199C NM_000019 Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), mRNA. Customized vector On-demand 7-9 $269.00
OHu45759C XM_006718834 PREDICTED: Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00
OHu45759C XM_006718835 PREDICTED: Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), transcript variant X2, mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol ACAT1
Entrez Gene ID 38
Full Name acetyl-CoA acetyltransferase 1
Synonyms ACAT, MAT, T2, THIL
General protein information
Preferred Names
acetyl-CoA acetyltransferase, mitochondrial
Names
acetyl-CoA acetyltransferase, mitochondrial
acetoacetyl-CoA thiolase
acetoacetyl Coenzyme A thiolase
acetyl-Coenzyme A acetyltransferase 1
mitochondrial acetoacetyl-CoA thiolase
NP_000010.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q22.3

Summary 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].
Disorder

MIM: 607809

Alpha-methylacetoacetic aciduria, 203750 (3)

mRNA Protein Product Sequence Price Select
NM_000019, 223890189 NP_000010, 4557237 acetyl-CoA acetyltransferase, mitochondrial precursor ORF Sequence $550.00
XM_006718834, 578822175 XP_006718897, 578822176 acetyl-CoA acetyltransferase, mitochondrial isoform X1 ORF Sequence $400.00
XM_006718835, 578822177 XP_006718898, 578822178 acetyl-CoA acetyltransferase, mitochondrial isoform X2 ORF Sequence $400.00
KEGG
hsa00310Lysine degradation
hsa00072Synthesis and degradation of ketone bodies
hsa00640Propanoate metabolism
hsa00071Fatty acid degradation
hsa00380Tryptophan metabolism
hsa00620Pyruvate metabolism
hsa00650Butanoate metabolism
hsa00280Valine, leucine and isoleucine degradation
hsa00630Glyoxylate and dicarboxylate metabolism
hsa00900Terpenoid backbone biosynthesis
hsa_M00095C5 isoprenoid biosynthesis, mevalonate pathway
hsa01200Carbon metabolism
hsa01212Fatty acid metabolism
WikiPathways
WP311Synthesis and Degradation of Ketone Bodies
WP143Fatty Acid Beta Oxidation
WP465Tryptophan metabolism
BIOCYC
META_PWY66-5superpathway of cholesterol biosynthesis
HUMAN_PWY66-5superpathway of cholesterol biosynthesis
HUMAN_ILEUDEG-PWYisoleucine degradation I
HUMAN_PWY-922mevalonate pathway I
HUMAN_PWY-5177glutaryl-CoA degradation
HUMAN_TRYPTOPHAN-DEGRADATION-1tryptophan degradation III (eukaryotic)
HUMAN_PWY-5910superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
HUMAN_PWY66-368ketolysis
META_PWY66-367ketogenesis
HUMAN_PWY66-367ketogenesis
META_PWY66-368ketolysis
Reactome
REACT_59Utilization of Ketone Bodies
REACT_1464Synthesis of Ketone Bodies
REACT_13Metabolism of amino acids and derivatives
REACT_197Branched-chain amino acid catabolism
REACT_1861Ketone body metabolism
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)ACAT1NP_000010.1
Pan troglodytes (chimpanzee)ACAT1XP_508738.2
Macaca mulatta (Rhesus monkey)ACAT1XP_001103928.1
Canis lupus familiaris (dog)ACAT1XP_546539.2
Bos taurus (cattle)ACAT1NP_001039540.1
Mus musculus (house mouse)Acat1NP_659033.1
Rattus norvegicus (Norway rat)Acat1NP_058771.2
Gallus gallus (chicken)ACAT1NP_001264708.1
Danio rerio (zebrafish)acat1NP_001003746.1
Drosophila melanogaster (fruit fly)CG10932NP_572414.1
Caenorhabditis eleganskat-1NP_495455.2
Caenorhabditis elegansT02G5.4NP_495461.2
Arabidopsis thaliana (thale cress)AT5G47720NP_001032028.1
Arabidopsis thaliana (thale cress)ACAT2NP_568694.2
Xenopus (Silurana) tropicalis (western clawed frog)acat1NP_001025572.1
Process
IDNameEvidence
GO:0001889liver developmentIEA
GO:0007420brain developmentIEA
GO:0009083branched-chain amino acid catabolic processTAS
GO:0009725response to hormoneIEA
GO:0014070response to organic cyclic compoundIEA
GO:0034641cellular nitrogen compound metabolic processTAS
GO:0042594response to starvationIEA
GO:0044255cellular lipid metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:0046950cellular ketone body metabolic processTAS
GO:0046951ketone body biosynthetic processTAS
GO:0046952ketone body catabolic processTAS
GO:0051260protein homooligomerizationIEA
GO:0060612adipose tissue developmentIEA
GO:0072229metanephric proximal convoluted tubule developmentIEA
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005743mitochondrial inner membraneIEA
GO:0005759mitochondrial matrixTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0003985acetyl-CoA C-acetyltransferase activityEXP
GO:0019899enzyme bindingIEA
GO:0042803protein homodimerization activityIEA
GO:0046872metal ion bindingIEA
GO:0050662coenzyme bindingIEA
GeneCards ACAT1
PDB 2IBU, 2IB8, 2IBY, 2F2S, 2IB7, 2IBW, 2IB9
UniProt P24752
Vega OTTHUMG00000166381
MIM 607809
Ensembl ENSG00000075239
HGNC 93
HPRD 01946

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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