EuRBPDB

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  • Basic Information
  • Cancer Related Information

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000075239 (Gene tree)
Gene ID
38
Gene Symbol
ACAT1
Alias
THIL|ACAT
Full Name
acetyl-CoA acetyltransferase 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
26,653 bases
Position
chr11:108,121,516-108,148,168
Accession
93
RBP type
non-canonical RBP
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]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & MCF10A2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
27453046Comprehensive Identification of RNA-Binding Domains in Human CellsRIC & Hela2016 Aug 18Castello ADOI: 10.1016/j.molcel.2016.06.029
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000524833ACAT1-203506--- (aa)--
ENST00000532792ACAT1-209674--- (aa)--
ENST00000265838ACAT1-2011761XM_006718835ENSP00000265838427 (aa)XP_006718898P24752
ENST00000527942ACAT1-205493-ENSP0000043356854 (aa)-E9PKF3
ENST00000534773ACAT1-212429--- (aa)--
ENST00000531853ACAT1-208526--- (aa)--
ENST00000528370ACAT1-206508-ENSP00000436096136 (aa)-H0YEL7
ENST00000299355ACAT1-2021345-ENSP00000299355162 (aa)-P24752
ENST00000526119ACAT1-204729--- (aa)--
ENST00000533610ACAT1-211566--- (aa)--
ENST00000531813ACAT1-2072258-ENSP00000435965141 (aa)-E9PRQ6
ENST00000533597ACAT1-210558--- (aa)--
Gene Model
Click here to download ENSG00000075239's gene model file
Pathways
Pathway IDPathway NameSource
hsa00071Fatty acid degradationKEGG
hsa00072Synthesis and degradation of ketone bodiesKEGG
hsa00280Valine, leucine and isoleucine degradationKEGG
hsa00310Lysine degradationKEGG
hsa00380Tryptophan metabolismKEGG
hsa00620Pyruvate metabolismKEGG
hsa00630Glyoxylate and dicarboxylate metabolismKEGG
hsa00640Propanoate metabolismKEGG
hsa00650Butanoate metabolismKEGG
hsa00900Terpenoid backbone biosynthesisKEGG
hsa01100Metabolic pathwaysKEGG
hsa01200Carbon metabolismKEGG
hsa01212Fatty acid metabolismKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000075239Stroke7.1852498E-004-
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000075239rs374104911108139200?Scarlet fever28928442[0.076-0.18] unit decrease0.1276EFO_0008409
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000075239's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000075239ACAT19231.944WBGene00015125B0303.39631.944Caenorhabditis_elegans
ENSG00000075239ACAT110044.444FBgn0035203CG91499943.147Drosophila_melanogaster
ENSG00000075239ACAT19037.913FBgn0040064yip29837.913Drosophila_melanogaster
ENSG00000075239ACAT19130.023FBgn0025352Thiolase9030.023Drosophila_melanogaster
ENSG00000075239ACAT19140.204ENSG00000167315ACAA29941.349Homo_sapiens
ENSG00000075239ACAT19631.544ENSG00000138029HADHB9831.544Homo_sapiens
ENSG00000075239ACAT19232.483ENSMUSG00000059447Hadhb8932.483Mus_musculus
ENSG00000075239ACAT19034.097ENSMUSG00000036138Acaa1a9034.097Mus_musculus
ENSG00000075239ACAT19854.717YPL028WERG109948.492Saccharomyces_cerevisiae
ENSG00000075239ACAT19837.736YIL160CPOT19234.430Saccharomyces_cerevisiae
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0001889liver development-IEAProcess
GO:0003985acetyl-CoA C-acetyltransferase activity21873635.IBAFunction
GO:0003985acetyl-CoA C-acetyltransferase activity17371050.IDAFunction
GO:0003985acetyl-CoA C-acetyltransferase activity1979337.8103405.IMPFunction
GO:0003988acetyl-CoA C-acyltransferase activity21873635.IBAFunction
GO:0005739mitochondrion21873635.IBAComponent
GO:0005739mitochondrion-IDAComponent
GO:0005759mitochondrial matrix-TASComponent
GO:0006085acetyl-CoA biosynthetic process17371050.IDAProcess
GO:0006550isoleucine catabolic process1979337.8103405.IMPProcess
GO:0006550isoleucine catabolic process17371050.TASProcess
GO:0006635fatty acid beta-oxidation21873635.IBAProcess
GO:0007420brain development-IEAProcess
GO:0009083branched-chain amino acid catabolic process-TASProcess
GO:0009725response to hormone-IEAProcess
GO:0014070response to organic cyclic compound-IEAProcess
GO:0015936coenzyme A metabolic process17371050.IDAProcess
GO:0015937coenzyme A biosynthetic process17371050.IDAProcess
GO:0016453C-acetyltransferase activity17371050.IDAFunction
GO:0019899enzyme binding-IEAFunction
GO:0034435cholesterol esterification24608080.TASProcess
GO:0042594response to starvation-IEAProcess
GO:0042803protein homodimerization activity-IEAFunction
GO:0046356acetyl-CoA catabolic process17371050.IDAProcess
GO:0046872metal ion binding-IEAFunction
GO:0046951ketone body biosynthetic process-TASProcess
GO:0046952ketone body catabolic process1979337.IMPProcess
GO:0046952ketone body catabolic process-TASProcess
GO:0050662coenzyme binding-IEAFunction
GO:0051260protein homooligomerization-IEAProcess
GO:0060612adipose tissue development-IEAProcess
GO:0070062extracellular exosome19056867.23533145.HDAComponent
GO:0072229metanephric proximal convoluted tubule development-IEAProcess
GO:1902224ketone body metabolic process17371050.ICProcess
GO:1902860propionyl-CoA biosynthetic process17371050.IDAProcess

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
24311408Evaluation and prognostic significance of ACAT1 as a marker of prostate cancer progression.Prostate2014 AprSaraon Pdoi: 10.1002/pros.22758
23443136Quantitative proteomics reveals that enzymes of the ketogenic pathway are associated with prostate cancer progression.Mol Cell Proteomics2013 JunSaraon Pdoi: 10.1074/mcp.M112.023887
18000807Androgen-mediated cholesterol metabolism in LNCaP and PC-3 cell lines is regulated through two different isoforms of acyl-coenzyme A:Cholesterol Acyltransferase (ACAT).Prostate2008 Jan 1Locke JA-
27177773TLR4 siRNA inhibits proliferation and invasion in colorectal cancer cells by downregulating ACAT1 expression.Life Sci2016 Jun 15Ye Kdoi: 10.1016/j.lfs.2016.05.012
19851860High ACAT1 expression in estrogen receptor negative basal-like breast cancer cells is associated with LDL-induced proliferation.Breast Cancer Res Treat2010 AugAntalis CJdoi: 10.1007/s10549-009-0594-8
29793481Insulin promotes progression of colon cancer by upregulation of ACAT1.Lipids Health Dis2018 May 24Chen Xdoi: 10.1186/s12944-018-0773-x.
30092298MiR-21 regulates the ACAT1 gene in MCF-7 cells.Life Sci2018 Sep 15Chanyshev MDdoi: 10.1016/j.lfs.2018.08.010

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
BLCAchr11108146341Missense_MutationnovelS382F0.27
BLCAchr11108138939SilentNAV159V0.23
BLCAchr11108142601Intronnovel0.14
BLCAchr11108138898Missense_MutationnovelD146N0.19
BLCAchr111081474763'UTRnovel0.07
BLCAchr11108146222Frame_Shift_InsnovelE345Rfs*100.21
BLCAchr11108135159Missense_MutationnovelP118A0.25
BLCAchr11108135193Missense_MutationnovelG129E0.05
BRCAchr11108142516Missense_MutationnovelK302N0.15
BRCAchr11108138924SilentNAE154E0.11
BRCAchr11108142635Intronnovel0.19
BRCAchr11108146326Missense_MutationNAN377T0.26
CESCchr11108143930Intronnovel0.45
CESCchr11108146265Missense_MutationNAS357C0.16
CESCchr11108147353Missense_Mutationrs777462355G416E0.42
COADchr11108142823Intronnovel0.5
COADchr111081215585'UTRnovel0.41
COADchr11108133865SilentNAL56L0.41
COADchr11108146338Missense_Mutationrs768448235V381A0.31
COADchr11108146327SilentnovelN377N0.23
COADchr11108133861Frame_Shift_DelNAL56*0.48
COADchr11108133861Frame_Shift_DelNAL56*0.34
COADchr11108140108Missense_Mutationrs370720208R208Q0.09
COADchr11108121618SilentnovelL4L0.16
COADchr11108140107Nonsense_Mutationrs532190594R208*0.33
COADchr11108147326Missense_MutationNAY407C0.25
ESCAchr11108133861Frame_Shift_DelNAL56*0.21
ESCAchr11108135202Frame_Shift_InsnovelI133Sfs*30.24
GBMchr11108146241Missense_MutationnovelM349V0.07
GBMchr11108140163Nonsense_MutationnovelW226*0.15
GBMchr111081475343'UTRnovel0.54
KIRCchr111081474923'UTRnovel0.2
KIRCchr11108142591Intronnovel0.42
KIRPchr11108143878Intronnovel0.44
LAMLchr11108139017SilentNAT185T0.41
LIHCchr11108140117Missense_MutationNAQ211R0.21
LIHCchr11108147374Missense_MutationnovelL423R0.4
LUADchr11108146264Silentrs139657823F356F0.38
LUADchr11108133882SilentnovelL61L0.18
LUADchr11108140185Nonsense_MutationNAE234*0.05
LUADchr11108131940Missense_MutationnovelK36Q0.22
LUSCchr11108140204Missense_MutationNAV240D0.35
LUSCchr11108146358Missense_MutationnovelG388W0.15
LUSCchr11108134279Missense_MutationnovelE99D0.23
OVchr11108141657SilentNAF261F0.74
OVchr11108135197Missense_MutationNAM130I0.42
OVchr11108135223Missense_MutationNAS139N0.44
OVchr11108133826Missense_MutationnovelV43I0.04
OVchr11108142574IntronNA0.21
PAADchr11108143982Splice_SitenovelX314_splice0.18
PAADchr11108146260Missense_MutationnovelA355V0.04
PAADchr11108147367Missense_Mutationrs749463321A421T0.16
PRADchr11108143994Missense_MutationnovelA318T0.34
SARCchr11108140093Missense_MutationnovelK203R0.42
SKCMchr11108138952Frame_Shift_DelnovelR165Tfs*80.4
STADchr111081474923'UTRnovel0.3
STADchr11108146280Missense_MutationNAA362T0.11
STADchr11108142443Frame_Shift_InsnovelT279Nfs*100.35
STADchr11108133861Frame_Shift_DelNAL56*0.1
STADchr11108146287Missense_MutationNAI364T0.21
STADchr11108133861Frame_Shift_DelNAL56*0.17
STADchr11108142512Missense_Mutationrs747860630A301V0.23
TGCTchr111081215735'UTRnovel0.28
UCECchr11108131914Missense_MutationNAR27I0.31
UCECchr11108139036Missense_MutationNAH192N0.29
UCECchr11108133929Frame_Shift_DelnovelK78Rfs*90.24
UCECchr11108133861Frame_Shift_DelNAL56*0.49
UCECchr11108133863Missense_MutationNAF55C0.4
UCECchr11108140108Missense_Mutationrs370720208R208Q0.32
UCECchr11108136130Intronnovel0.44
UCECchr11108133832Missense_MutationNAV45L0.38
UCECchr11108140200Missense_MutationNAT239A0.61
UCECchr11108143784Intronnovel0.38
UCECchr111081475213'UTRnovel0.31
UCECchr11108133860Frame_Shift_InsnovelL56Ffs*110.41
UCECchr11108142496Missense_Mutationrs368802454M296V0.33
UCECchr11108143866Intronnovel0.37
UCECchr11108133923Missense_MutationnovelA75V0.28
UCECchr11108141694Nonsense_MutationnovelE274*0.23
UCECchr11108144043Missense_MutationnovelS334F0.42
UCECchr11108136161Intronnovel0.38
UCECchr111081474893'UTRnovel0.43
UCECchr11108135154Missense_MutationnovelS116Y0.14
UCECchr11108133861Frame_Shift_DelNAL56*0.22
UCECchr11108140108Missense_Mutationrs370720208R208Q0.22
UCECchr11108141652Missense_MutationnovelD260N0.32
UCECchr111081216045'UTRnovel0.2
UCECchr11108140108Missense_Mutationrs370720208R208Q0.36
UCECchr111081474543'UTRnovel0.3
UCECchr11108134235Nonsense_Mutationrs748425041E85*0.44
UCECchr11108135156Missense_MutationnovelT117P0.4
UCECchr111081474553'UTRnovel0.36
UCECchr11108143994Missense_MutationnovelA318T0.42
UCECchr111081475653'UTRnovel0.35
UCECchr11108140121Silentrs759659537D212D0.04
UCECchr11108142458Missense_MutationnovelA283D0.42

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
BLCADEL0.28680.00015732
CESCDEL0.4781.0762e-32
CHOLDEL0.30560.048655
ESCAAMP0.11960.018342
KIRPDEL0.10422.839e-05
LIHCDEL0.19460.00030497
LUADDEL0.17254.2393e-06
MESODEL0.16090.0023183
PRADDEL0.07520.00026046
READDEL0.21210.054114
SARCDEL0.41631.8105e-09
STADDEL0.14298.3734e-05
TGCTDEL0.74670.21504
UCSDEL0.41070.086462

Survival Analysis
CancerP-value Q-value
THYM0.036

Kaplan-Meier Survival Analysis

PRAD0.049

Kaplan-Meier Survival Analysis

BRCA0.05

Kaplan-Meier Survival Analysis

KIRP0.0001

Kaplan-Meier Survival Analysis

PAAD0.023

Kaplan-Meier Survival Analysis

BLCA0.0064

Kaplan-Meier Survival Analysis

LAML0.026

Kaplan-Meier Survival Analysis

GBM0.038

Kaplan-Meier Survival Analysis

LIHC0.0001

Kaplan-Meier Survival Analysis

LGG0.00011

Kaplan-Meier Survival Analysis

LUAD0.0018

Kaplan-Meier Survival Analysis

Drugs

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Input Cell Line :


Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742


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