mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ACAT1
Gene summary
Basic gene Info.Gene symbolACAT1
Gene nameacetyl-CoA acetyltransferase 1
SynonymsACAT|MAT|T2|THIL
CytomapUCSC genome browser: 11q22.3
Type of geneprotein-coding
RefGenesNM_000019.3,
Descriptionacetoacetyl Coenzyme A thiolaseacetoacetyl-CoA thiolaseacetyl-CoA acetyltransferase, mitochondrialacetyl-Coenzyme A acetyltransferase 1mitochondrial acetoacetyl-CoA thiolase
Modification date20141207
dbXrefs MIM : 607809
HGNC : HGNC
Ensembl : ENSG00000075239
HPRD : 01946
Vega : OTTHUMG00000166381
ProteinUniProt: P24752
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACAT1
BioGPS: 38
PathwayNCI Pathway Interaction Database: ACAT1
KEGG: ACAT1
REACTOME: ACAT1
Pathway Commons: ACAT1
ContextiHOP: ACAT1
ligand binding site mutation search in PubMed: ACAT1
UCL Cancer Institute: ACAT1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for ACAT1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
V381V381ACOAD1
H192H192NUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for ACAT1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
H192H192N-1.574396
V381V381A-0.58651462
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for ACAT1 from PDB

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Differential gene expression and gene-gene network for ACAT1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of ACAT1 and the right PPI network was created from samples without mutations in the LBS of ACAT1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for ACAT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1536500Beta ketothiolase deficiency15Biomarker, GeneticVariation
umls:C0022661Kidney Failure, Chronic1Biomarker
umls:C0036572Seizures1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for ACAT1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00795SulfasalazineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ACAT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
COACOENZYME A2f2sAH192
COACOENZYME A2f2sBH192
COACOENZYME A2f2sCH192
COACOENZYME A2f2sDH192
COACOENZYME A2ibuAH192
COACOENZYME A2ibuBH192
COACOENZYME A2ibuCH192
COACOENZYME A2ibuDH192
COACOENZYME A2ibwAH192
COACOENZYME A2ibwBH192
COACOENZYME A2ibwCH192
COACOENZYME A2ibwDH192
COACOENZYME A2ibyAH192
COACOENZYME A2ibyBH192
COACOENZYME A2ibyCH192
COACOENZYME A2ibyDH192
KPOTASSIUM(1+)2ib8AV381
KPOTASSIUM(1+)2ib8BV381
KPOTASSIUM(1+)2ib8CV381
KPOTASSIUM(1+)2ib8DV381
KPOTASSIUM(1+)2ib9AV381
KPOTASSIUM(1+)2ib9BV381
KPOTASSIUM(1+)2ib9CV381
KPOTASSIUM(1+)2ib9DV381
KPOTASSIUM(1+)2ibwAV381
KPOTASSIUM(1+)2ibwBV381
KPOTASSIUM(1+)2ibwCV381
KPOTASSIUM(1+)2ibwDV381
KPOTASSIUM(1+)2ibyAV381
KPOTASSIUM(1+)2ibyBV381
KPOTASSIUM(1+)2ibyCV381
KPOTASSIUM(1+)2ibyDV381


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Conservation information for LBS of ACAT1
Multiple alignments for P24752 in multiple species
LBSAA sequence# speciesSpecies
A280NGTVTAANAST6Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Xenopus tropicalis, Danio rerio, Rattus norvegicus, Bos taurus
A280GGTVTAGNASS1Arabidopsis thaliana
A280NGTVTAANASP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A280-GTITAANAST1Caenorhabditis elegans
A280NGTITAANAST1Mus musculus
A281GTVTAANASTL6Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Xenopus tropicalis, Danio rerio, Rattus norvegicus, Bos taurus
A281GTITAANASTL2Caenorhabditis elegans, Mus musculus
A281GTVTAGNASSI1Arabidopsis thaliana
A281GTVTAANASPI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A283VTAANASTLND6Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Xenopus tropicalis, Danio rerio, Rattus norvegicus, Bos taurus
A283ITAANASTLND2Caenorhabditis elegans, Mus musculus
A283VTAGNASSISD1Arabidopsis thaliana
A283VTAANASPIND1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A355WEVNEAFSVVV3Mus musculus, Rattus norvegicus, Bos taurus
A355WEINEAFSVVV2Xenopus tropicalis, Danio rerio
A355WEVNEAFSLVV1Homo sapiens
A355YEINEAFAVVA1Arabidopsis thaliana
A355FEFNEAFSVVG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A355YEINEAFSVVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A355WEVNEAFSCVP1Caenorhabditis elegans
C126TINKVCASGMK4Homo sapiens, Xenopus tropicalis, Danio rerio, Bos taurus
C126TVNKVCASGMK4Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Mus musculus, Rattus norvegicus
C126TVNKVCASAMK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C126TVNKVCSSGLK1Caenorhabditis elegans
D260EYKRVDFSKVP3Homo sapiens, Mus musculus, Rattus norvegicus
D260GLGKFDAAKLR1Arabidopsis thaliana
D260EPARLHVEKLR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D260EPKNLNEDKLK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D260EFTKVNFDKFT1Caenorhabditis elegans
D260EYKRVDFSKFS1Xenopus tropicalis
D260EYRKVDFSKVP1Danio rerio
D260EYKRVDFSKIP1Bos taurus
F271KLKTVFQKENG3Homo sapiens, Mus musculus, Rattus norvegicus
F271KLRPSFKENGG1Arabidopsis thaliana
F271SARTVFQKENG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F271SVRAVF-KSNG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F271SLRTVFQKD-G1Caenorhabditis elegans
F271KLKTVFQKDNG1Xenopus tropicalis
F271KLKAVFLKENG1Danio rerio
F271KLKTVFQRENG1Bos taurus
F325VDPIDFPLAPA2Mus musculus, Rattus norvegicus
F325VEPIDFPIAPV1Homo sapiens
F325QEPEFFTTAPA1Arabidopsis thaliana
F325HQPADFTWAPS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F325QDPERFTTSPS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F325THPLDFAVAPT1Caenorhabditis elegans
F325VDPIDFPIAPA1Xenopus tropicalis
F325VAPIDFPIAPA1Danio rerio
F325VEPIDFPLAPA1Bos taurus
F356EVNEAFSVVVL3Mus musculus, Rattus norvegicus, Bos taurus
F356EINEAFSVVVL2Xenopus tropicalis, Danio rerio
F356EVNEAFSLVVL1Homo sapiens
F356EINEAFAVVAL1Arabidopsis thaliana
F356EFNEAFSVVGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F356EINEAFSVVAV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F356EVNEAFSCVPL1Caenorhabditis elegans
G418CNGGGGASSIV3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Danio rerio
G418CNGGGGASAML2Homo sapiens, Bos taurus
G418CNGGGGASAVL2Xenopus tropicalis, Rattus norvegicus
G418CNGGGGASALV1Arabidopsis thaliana
G418CNGGGGSSGMV1Caenorhabditis elegans
G418CNGGGGASALL1Mus musculus
H192VYNKIHMGNCA3Mus musculus, Rattus norvegicus, Bos taurus
H192VYNKFHMGNCA2Xenopus tropicalis, Danio rerio
H192VYNKIHMGSCA1Homo sapiens
H192VYNDCGMGSCA1Arabidopsis thaliana
H192AYDGLAMGVHA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H192AYDGLPMGNAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H192AYDKVHMGNCG1Caenorhabditis elegans
H385AVSLGHPIGMS6Homo sapiens, Xenopus tropicalis, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
H385AVSLGHPLGCS1Arabidopsis thaliana
H385AVALGHPLGCS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H385GVAMGHPLGSS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H385AVSIGHPIGMS1Caenorhabditis elegans
I387SLGHPIGMSGA6Homo sapiens, Xenopus tropicalis, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
I387SLGHPLGCSGA1Arabidopsis thaliana
I387ALGHPLGCSGA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I387AMGHPLGSSGS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I387SIGHPIGMSGA1Caenorhabditis elegans
K124CTTVNKVCASG4Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Mus musculus, Rattus norvegicus
K124CTTINKVCASG2Homo sapiens, Bos taurus
K124ASTVNKVCASA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K124VTTVNKVCSSG1Caenorhabditis elegans
K124TTTINKVCASG1Xenopus tropicalis
K124ATTINKVCASG1Danio rerio
K263RVDFSKVPKLK3Homo sapiens, Mus musculus, Rattus norvegicus
K263KFDAAKLRKLR1Arabidopsis thaliana
K263RLHVEKLRSAR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K263NLNEDKLKSVR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K263KVNFDKFTSLR1Caenorhabditis elegans
K263RVDFSKFSKLK1Xenopus tropicalis
K263KVDFSKVPKLK1Danio rerio
K263RVDFSKIPKLK1Bos taurus
L184IVKDGLTDVYN6Homo sapiens, Xenopus tropicalis, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
L184MLKDGLWDVYN1Arabidopsis thaliana
L184VERDGLNDAYD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L184LLRDGLSDAYD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L184IVKDGLTDAYD1Caenorhabditis elegans
L267SKVPKLKTVFQ3Homo sapiens, Mus musculus, Rattus norvegicus
L267AKLRKLRPSFK1Arabidopsis thaliana
L267EKLRSARTVFQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L267DKLKSVRAVF-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L267DKFTSLRTVFQ1Caenorhabditis elegans
L267SKFSKLKTVFQ1Xenopus tropicalis
L267SKVPKLKAVFL1Danio rerio
L267SKIPKLKTVFQ1Bos taurus
L286ANASTLNDGAA7Homo sapiens, Caenorhabditis elegans, Xenopus tropicalis, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
L286GNASSISDGAA1Arabidopsis thaliana
L286ANASPINDGAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L286ANASTLNDGAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M193YNKIHMGNCAE3Mus musculus, Rattus norvegicus, Bos taurus
M193YNKFHMGNCAE2Xenopus tropicalis, Danio rerio
M193YNKIHMGSCAE1Homo sapiens
M193YNDCGMGSCAE1Arabidopsis thaliana
M193YDGLAMGVHAE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M193YDGLPMGNAAE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M193YDKVHMGNCGE1Caenorhabditis elegans
N282TVTAANASTLN6Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Xenopus tropicalis, Danio rerio, Rattus norvegicus, Bos taurus
N282TITAANASTLN2Caenorhabditis elegans, Mus musculus
N282TVTAGNASSIS1Arabidopsis thaliana
N282TVTAANASPIN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N414LASICNGGGGA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N414VGGVCNGGGGA1Arabidopsis thaliana
N414VAAICNGGGGA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N414VAAVCNGGGGA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N414VAAICNGGGGS1Caenorhabditis elegans
N414IAGICNGGGGA1Xenopus tropicalis
N414LAGICNGGGGA1Danio rerio
R258DEEYKRVDFSK5Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus
R258DEGLGKFDAAK1Arabidopsis thaliana
R258DEEPARLHVEK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R258DEEPKNLNEDK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R258DEEFTKVNFDK1Caenorhabditis elegans
R258DEEYRKVDFSK1Danio rerio
S284TAANASTLNDG8Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Xenopus tropicalis, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
S284TAGNASSISDG1Arabidopsis thaliana
S284TAANASPINDG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T285AANASTLNDGA8Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Xenopus tropicalis, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
T285AGNASSISDGA1Arabidopsis thaliana
T285AANASPINDGA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V259EEYKRVDFSKV3Homo sapiens, Mus musculus, Rattus norvegicus
V259EGLGKFDAAKL1Arabidopsis thaliana
V259EEPARLHVEKL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V259EEPKNLNEDKL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V259EEFTKVNFDKF1Caenorhabditis elegans
V259EEYKRVDFSKF1Xenopus tropicalis
V259EEYRKVDFSKV1Danio rerio
V259EEYKRVDFSKI1Bos taurus
V264VDFSKVPKLKT3Homo sapiens, Mus musculus, Rattus norvegicus
V264FDAAKLRKLRP1Arabidopsis thaliana
V264LHVEKLRSART1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V264LNEDKLKSVRA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V264VNFDKFTSLRT1Caenorhabditis elegans
V264VDFSKFSKLKT1Xenopus tropicalis
V264VDFSKVPKLKA1Danio rerio
V264VDFSKIPKLKT1Bos taurus
V270PKLKTVFQKEN3Homo sapiens, Mus musculus, Rattus norvegicus
V270RKLRPSFKENG1Arabidopsis thaliana
V270RSARTVFQKEN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V270KSVRAVF-KSN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V270TSLRTVFQKD-1Caenorhabditis elegans
V270SKLKTVFQKDN1Xenopus tropicalis
V270PKLKAVFLKEN1Danio rerio
V270PKLKTVFQREN1Bos taurus
V381INGGAVSLGHP3Homo sapiens, Danio rerio, Bos taurus
V381VNGGAVSLGHP2Arabidopsis thaliana, Xenopus tropicalis
V381VYGGAVALGHP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V381INGGGVAMGHP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V381PHGGAVSIGHP1Caenorhabditis elegans
V381IHGGAVSLGHP1Mus musculus
V381VHGGAVSLGHP1Rattus norvegicus
Y219YAINSYTRSKA1Homo sapiens
Y219YAVQSFERGIA1Arabidopsis thaliana
Y219FAIESYQKSQK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y219FAISSYKRAQN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y219YAINSYKKSAK1Caenorhabditis elegans
Y219FAINSYTRSKA1Xenopus tropicalis
Y219FAIKSYTLSKA1Danio rerio
Y219YALSSYTRSKE1Mus musculus
Y219YAIGSYTRSKE1Rattus norvegicus
Y219YALNSYTRSKA1Bos taurus


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