ENSG00000075239


Homo sapiens

Features
Gene ID: ENSG00000075239
  
Biological name :ACAT1
  
Synonyms : ACAT1 / acetyl-CoA acetyltransferase 1 / P24752
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q22.3
Gene start: 108121516
Gene end: 108147776
  
Corresponding Affymetrix probe sets: 1554947_at (Human Genome U133 Plus 2.0 Array)   1559239_s_at (Human Genome U133 Plus 2.0 Array)   205412_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265838
Ensembl peptide - ENSP00000436096
Ensembl peptide - ENSP00000435965
Ensembl peptide - ENSP00000433568
Ensembl peptide - ENSP00000299355
NCBI entrez gene - 38     See in Manteia.
OMIM - 607809
RefSeq - XM_006718835
RefSeq - XM_017017683
RefSeq - XM_017017682
RefSeq - XM_017017681
RefSeq - NM_000019
RefSeq Peptide - NP_000010
swissprot - P24752
swissprot - E9PRQ6
swissprot - H0YEL7
swissprot - A0A140VJX1
swissprot - E9PKF3
Ensembl - ENSG00000075239
  
Related genetic diseases (OMIM): 203750 - Alpha-methylacetoacetic aciduria, 203750
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 acat1ENSDARG00000045888Danio rerio
 ACAT1ENSGALG00000017163Gallus gallus
 Acat1ENSMUSG00000032047Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACAT2 / Q9BWD1 / acetyl-CoA acetyltransferase 2ENSG0000012043740
ACAA2 / P42765 / acetyl-CoA acyltransferase 2ENSG0000016731537


Protein motifs (from Interpro)
Interpro ID Name
 IPR002155  Thiolase
 IPR016039  Thiolase-like
 IPR020610  Thiolase, active site
 IPR020613  Thiolase, conserved site
 IPR020615  Thiolase, acyl-enzyme intermediate active site
 IPR020616  Thiolase, N-terminal
 IPR020617  Thiolase, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001889 liver development IEA
 biological_processGO:0006085 acetyl-CoA biosynthetic process IDA
 biological_processGO:0006550 isoleucine catabolic process TAS
 biological_processGO:0006635 fatty acid beta-oxidation IBA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009083 branched-chain amino acid catabolic process TAS
 biological_processGO:0009725 response to hormone IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0015936 coenzyme A metabolic process IDA
 biological_processGO:0015937 coenzyme A biosynthetic process IDA
 biological_processGO:0042594 response to starvation IEA
 biological_processGO:0046356 acetyl-CoA catabolic process IDA
 biological_processGO:0046951 ketone body biosynthetic process TAS
 biological_processGO:0046952 ketone body catabolic process TAS
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0060612 adipose tissue development IEA
 biological_processGO:0072229 metanephric proximal convoluted tubule development IEA
 biological_processGO:1902224 ketone body metabolic process IC
 biological_processGO:1902860 propionyl-CoA biosynthetic process IDA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003985 acetyl-CoA C-acetyltransferase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA
 molecular_functionGO:0016830 carbon-carbon lyase activity IDA
 molecular_functionGO:0016885 ligase activity, forming carbon-carbon bonds IDA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050662 coenzyme binding IEA


Pathways (from Reactome)
Pathway description
Branched-chain amino acid catabolism
Utilization of Ketone Bodies
Synthesis of Ketone Bodies


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001944 Dehydration 
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 HP:0002013 Vomiting 
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 HP:0005974 Ketoacidosis, episodic 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000075239 ACAT1 / P24752 / acetyl-CoA acetyltransferase 1  / complex






 

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