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ACAT1 (acetyl-CoA acetyltransferase 1)

Identity

Other namesACAT
MAT
T2
THIL
HGNC (Hugo) ACAT1
LocusID (NCBI) 38
Atlas_Id 50049
Location 11q22.3
Location_base_pair Starts at 107992258 and ends at 108018891 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ACAT1   93
Cards
Entrez_Gene (NCBI)ACAT1  38  acetyl-CoA acetyltransferase 1
GeneCards (Weizmann)ACAT1
Ensembl hg19 (Hinxton)ENSG00000075239 [Gene_View]  chr11:107992258-108018891 [Contig_View]  ACAT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000075239 [Gene_View]  chr11:107992258-108018891 [Contig_View]  ACAT1 [Vega]
ICGC DataPortalENSG00000075239
TCGA cBioPortalACAT1
AceView (NCBI)ACAT1
Genatlas (Paris)ACAT1
WikiGenes38
SOURCE (Princeton)ACAT1
Genomic and cartography
GoldenPath hg19 (UCSC)ACAT1  -     chr11:107992258-108018891 +  11q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACAT1  -     11q22.3   [Description]    (hg38-Dec_2013)
EnsemblACAT1 - 11q22.3 [CytoView hg19]  ACAT1 - 11q22.3 [CytoView hg38]
Mapping of homologs : NCBIACAT1 [Mapview hg19]  ACAT1 [Mapview hg38]
OMIM203750   607809   
Gene and transcription
Genbank (Entrez)AF086561 AK312574 AW081574 BC010942 BC063853
RefSeq transcript (Entrez)NM_000019
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_009888 NT_033899 NW_004929381
Consensus coding sequences : CCDS (NCBI)ACAT1
Cluster EST : UnigeneHs.232375 [ NCBI ]
CGAP (NCI)Hs.232375
Alternative Splicing : Fast-db (Paris)GSHG0005221
Alternative Splicing GalleryENSG00000075239
Gene ExpressionACAT1 [ NCBI-GEO ]     ACAT1 [ SEEK ]   ACAT1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24752 (Uniprot)
NextProtP24752  [Medical]
With graphics : InterProP24752
Splice isoforms : SwissVarP24752 (Swissvar)
Catalytic activity : Enzyme2.3.1.9 [ Enzyme-Expasy ]   2.3.1.92.3.1.9 [ IntEnz-EBI ]   2.3.1.9 [ BRENDA ]   2.3.1.9 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)THIOLASE_1 (PS00098)    THIOLASE_2 (PS00737)    THIOLASE_3 (PS00099)   
Domains : Interpro (EBI)Thiolase    Thiolase-like    Thiolase-like_subgr    Thiolase_acyl_enz_int_AS    Thiolase_AS    Thiolase_C    Thiolase_CS    Thiolase_N   
Related proteins : CluSTrP24752
Domain families : Pfam (Sanger)Thiolase_C (PF02803)    Thiolase_N (PF00108)   
Domain families : Pfam (NCBI)pfam02803    pfam00108   
DMDM Disease mutations38
Blocks (Seattle)P24752
PDB (SRS)2F2S    2IB7    2IB8    2IB9    2IBU    2IBW    2IBY   
PDB (PDBSum)2F2S    2IB7    2IB8    2IB9    2IBU    2IBW    2IBY   
PDB (IMB)2F2S    2IB7    2IB8    2IB9    2IBU    2IBW    2IBY   
PDB (RSDB)2F2S    2IB7    2IB8    2IB9    2IBU    2IBW    2IBY   
Human Protein AtlasENSG00000075239
Peptide AtlasP24752
HPRD01946
IPIIPI00030363   IPI00062003   IPI00983400   IPI00978217   IPI00982729   
Protein Interaction databases
DIP (DOE-UCLA)P24752
IntAct (EBI)P24752
FunCoupENSG00000075239
BioGRIDACAT1
IntegromeDBACAT1
STRING (EMBL)ACAT1
Ontologies - Pathways
QuickGOP24752
Ontology : AmiGOliver development  acetyl-CoA C-acetyltransferase activity  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  brain development  branched-chain amino acid catabolic process  response to hormone  response to organic cyclic compound  enzyme binding  cellular nitrogen compound metabolic process  response to starvation  protein homodimerization activity  cellular lipid metabolic process  small molecule metabolic process  metal ion binding  cellular ketone body metabolic process  ketone body biosynthetic process  ketone body catabolic process  coenzyme binding  protein homooligomerization  adipose tissue development  extracellular exosome  metanephric proximal convoluted tubule development  
Ontology : EGO-EBIliver development  acetyl-CoA C-acetyltransferase activity  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  brain development  branched-chain amino acid catabolic process  response to hormone  response to organic cyclic compound  enzyme binding  cellular nitrogen compound metabolic process  response to starvation  protein homodimerization activity  cellular lipid metabolic process  small molecule metabolic process  metal ion binding  cellular ketone body metabolic process  ketone body biosynthetic process  ketone body catabolic process  coenzyme binding  protein homooligomerization  adipose tissue development  extracellular exosome  metanephric proximal convoluted tubule development  
Pathways : BIOCARTALow-density lipoprotein (LDL) pathway during atherogenesis [Genes]   
Pathways : KEGGFatty acid degradation    Synthesis and degradation of ketone bodies    Valine, leucine and isoleucine degradation    Lysine degradation    Tryptophan metabolism    Pyruvate metabolism    Glyoxylate and dicarboxylate metabolism    Propanoate metabolism    Butanoate metabolism    Terpenoid backbone biosynthesis   
Protein Interaction DatabaseACAT1
DoCM (Curated mutations)ACAT1
Wikipedia pathwaysACAT1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerACAT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACAT1
dbVarACAT1
ClinVarACAT1
1000_GenomesACAT1 
Exome Variant ServerACAT1
SNP (GeneSNP Utah)ACAT1
SNP : HGBaseACAT1
Genetic variants : HAPMAPACAT1
Genomic Variants (DGV)ACAT1 [DGVbeta]
Mutations
ICGC Data PortalACAT1 
TCGA Data PortalACAT1 
Tumor PortalACAT1
Somatic Mutations in Cancer : COSMICACAT1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:107992258-108018891
CONAN: Copy Number AnalysisACAT1 
Mutations and Diseases : HGMDACAT1
OMIM203750    607809   
MedgenACAT1
NextProtP24752 [Medical]
GENETestsACAT1
Disease Genetic AssociationACAT1
Huge Navigator ACAT1 [HugePedia]  ACAT1 [HugeCancerGEM]
snp3D : Map Gene to Disease38
DGIdb (Drug Gene Interaction db)ACAT1
General knowledge
Homologs : HomoloGeneACAT1
Homology/Alignments : Family Browser (UCSC)ACAT1
Phylogenetic Trees/Animal Genes : TreeFamACAT1
Chemical/Protein Interactions : CTD38
Chemical/Pharm GKB GenePA24431
Clinical trialACAT1
Cancer Resource (Charite)ENSG00000075239
Other databases
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
CoreMineACAT1
GoPubMedACAT1
iHOPACAT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 13:58:35 CEST 2015

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