Version 5.4
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
IDBP-70139
acetyl-CoA acetyltransferase 1
IDBP-70141
acetyl-CoA acetyltransferase 1
IDBP-586208
acetyl-CoA acetyltransferase 1
IDBP-586570
acetyl-CoA acetyltransferase 1
IDBP-594178
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
ENSMUSG00000032047
View Gene Order
ENSBTAG00000012885
Not yet available
Pathways
NETPATH
REACTOME
REACT_1464
Synthesis of Ketone Bodies pathway
REACT_59
Utilization of Ketone Bodies pathway
REACT_22279
Fatty acid, triacylglycerol, and ketone body metabolism pathway
REACT_197
Branched-chain amino acid catabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_1861
Ketone body metabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00900
Terpenoid backbone biosynthesis pathway
hsa00620
Pyruvate metabolism pathway
hsa00280
Valine, leucine and isoleucine degradation pathway
hsa00650
Butanoate metabolism pathway
hsa00640
Propanoate metabolism pathway
hsa00630
Glyoxylate and dicarboxylate metabolism pathway
hsa00380
Tryptophan metabolism pathway
hsa00072
Synthesis and degradation of ketone bodies pathway
hsa00071
Fatty acid degradation pathway
hsa00310
Lysine degradation pathway
INOH
INOH website
Tryptophan degradation pathway
INOH website
Butanoate metabolism pathway
INOH website
Citrate cycle pathway
INOH website
Pyruvate metabolism pathway
INOH website
Lysine degradation pathway
PID NCI
Cross-References
SwissProt
TrEMBL E9PKF3
UniProt Splice Variant
Entrez Gene 38
UniGene Hs.232375
RefSeq NM_000019 XM_006718834 XM_006718835
HUGO HGNC:93
OMIM 607809
CCDS CCDS8339
HPRD 01946
IMGT
EMBL AP002433
GenPept
RNA Seq Atlas 38

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca