Homo sapiens Gene: ACAT1
Summary
InnateDB Gene IDBG-70137.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACAT1
Gene Name acetyl-CoA acetyltransferase 1
Synonyms ACAT; MAT; T2; THIL;
Species Homo sapiens
Ensembl Gene ENSG00000075239
Encoded Proteins
acetyl-CoA acetyltransferase 1
acetyl-CoA acetyltransferase 1
acetyl-CoA acetyltransferase 1
acetyl-CoA acetyltransferase 1
acetyl-CoA acetyltransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:108121516-108147776
Strand Forward strand
Band q22.3
Transcripts
ENST00000265838 ENSP00000265838
ENST00000299355 ENSP00000299355
ENST00000524833
ENST00000531813 ENSP00000435965
ENST00000531853
ENST00000527942 ENSP00000433568
ENST00000526119
ENST00000528370 ENSP00000436096
ENST00000534773
ENST00000532792
ENST00000533610
ENST00000533597
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
Experimentally validated
Total 37 [view]
Protein-Protein 37 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0003985 acetyl-CoA C-acetyltransferase activity
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups
GO:0019899 enzyme binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0050662 coenzyme binding
Biological Process
GO:0001889 liver development
GO:0007420 brain development
GO:0008152 metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0009725 response to hormone
GO:0014070 response to organic cyclic compound
GO:0034641 cellular nitrogen compound metabolic process
GO:0042594 response to starvation
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0046950 cellular ketone body metabolic process
GO:0046951 ketone body biosynthetic process
GO:0046952 ketone body catabolic process
GO:0051260 protein homooligomerization
GO:0060612 adipose tissue development
GO:0072229 metanephric proximal convoluted tubule development
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Branched-chain amino acid catabolism pathway
Metabolism of lipids and lipoproteins pathway
Ketone body metabolism pathway
Metabolism of amino acids and derivatives pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Metabolism pathway
Utilization of Ketone Bodies pathway
Synthesis of Ketone Bodies pathway
KEGG
Fatty acid degradation pathway
Synthesis and degradation of ketone bodies pathway
Valine, leucine and isoleucine degradation pathway
Lysine degradation pathway
Tryptophan metabolism pathway
Pyruvate metabolism pathway
Glyoxylate and dicarboxylate metabolism pathway
Propanoate metabolism pathway
Butanoate metabolism pathway
Terpenoid backbone biosynthesis pathway
INOH
Lysine degradation pathway
Tryptophan degradation pathway
Butanoate metabolism pathway
Citrate cycle pathway
Pyruvate metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.232375
RefSeq NM_000019 XM_006718834 XM_006718835
HUGO
OMIM
CCDS CCDS8339
HPRD 01946
IMGT
EMBL
GenPept
RNA Seq Atlas