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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  [Link to chromosome band 11q22]
Location_base_pair Starts at 107992258 and ends at 108018891 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACAT1 (11q22.3) / VPRBP (3p21.2)

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
AliasesACAT; MAT; T2; THIL
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 GalleryENSG00000075239
Gene ExpressionACAT1 [ NCBI-GEO ]   ACAT1 [ EBI - ARRAY_EXPRESS ]   ACAT1 [ SEEK ]   ACAT1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACAT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)38
GTEX Portal (Tissue expression)ACAT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24752 (Uniprot)
NextProtP24752  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusP24752
Domaine pattern : Prosite (Expaxy)THIOLASE_1 (PS00098)    THIOLASE_2 (PS00737)    THIOLASE_3 (PS00099)   
Domains : Interpro (EBI)Thiolase    Thiolase-like    Thiolase_acyl_enz_int_AS    Thiolase_AS    Thiolase_C    Thiolase_CS    Thiolase_N   
Domain families : Pfam (Sanger)Thiolase_C (PF02803)    Thiolase_N (PF00108)   
Domain families : Pfam (NCBI)pfam02803    pfam00108   
DMDM Disease mutations38
Blocks (Seattle)ACAT1
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   
Structural Biology KnowledgeBase2F2S    2IB7    2IB8    2IB9    2IBU    2IBW    2IBY   
SCOP (Structural Classification of Proteins)2F2S    2IB7    2IB8    2IB9    2IBU    2IBW    2IBY   
CATH (Classification of proteins structures)2F2S    2IB7    2IB8    2IB9    2IBU    2IBW    2IBY   
SuperfamilyP24752
Human Protein AtlasENSG00000075239
Peptide AtlasP24752
HPRD01946
IPIIPI00030363   IPI00062003   IPI00983400   IPI00978217   IPI00982729   
Protein Interaction databases
DIP (DOE-UCLA)P24752
IntAct (EBI)P24752
FunCoupENSG00000075239
BioGRIDACAT1
STRING (EMBL)ACAT1
ZODIACACAT1
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  response to starvation  protein homodimerization activity  metal ion binding  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  response to starvation  protein homodimerization activity  metal ion binding  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   
NDEx NetworkACAT1
Atlas of Cancer Signalling NetworkACAT1
Wikipedia pathwaysACAT1
Orthology - Evolution
OrthoDB38
GeneTree (enSembl)ENSG00000075239
Phylogenetic Trees/Animal Genes : TreeFamACAT1
Homologs : HomoloGeneACAT1
Homology/Alignments : Family Browser (UCSC)ACAT1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerACAT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACAT1
dbVarACAT1
ClinVarACAT1
1000_GenomesACAT1 
Exome Variant ServerACAT1
ExAC (Exome Aggregation Consortium)ACAT1 (select the gene name)
Genetic variants : HAPMAP38
Genomic Variants (DGV)ACAT1 [DGVbeta]
Mutations
ICGC Data PortalACAT1 
TCGA Data PortalACAT1 
Broad Tumor PortalACAT1
OASIS PortalACAT1 [ Somatic mutations - Copy number]
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
BioMutasearch ACAT1
DgiDB (Drug Gene Interaction Database)ACAT1
DoCM (Curated mutations)ACAT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACAT1 (select a term)
intoGenACAT1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:107992258-108018891  ENSG00000075239
CONAN: Copy Number AnalysisACAT1 
Mutations and Diseases : HGMDACAT1
OMIM203750    607809   
MedgenACAT1
Genetic Testing Registry ACAT1
NextProtP24752 [Medical]
TSGene38
GENETestsACAT1
Huge Navigator ACAT1 [HugePedia]
snp3D : Map Gene to Disease38
BioCentury BCIQACAT1
ClinGenACAT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD38
Chemical/Pharm GKB GenePA24431
Clinical trialACAT1
Miscellaneous
canSAR (ICR)ACAT1 (select the gene name)
Probes
Litterature
PubMed88 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACAT1
EVEXACAT1
GoPubMedACAT1
iHOPACAT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:34:40 CEST 2016

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