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 CES1
Gene summary
Basic gene Info.Gene symbolCES1
Gene namecarboxylesterase 1
SynonymsACAT|CE-1|CEH|CES2|HMSE|HMSE1|PCE-1|REH|SES1|TGH|hCE-1
CytomapUCSC genome browser: 16q22.2
Type of geneprotein-coding
RefGenesNM_001025194.1,
NM_001025195.1,NM_001266.4,
Descriptionacyl coenzyme A:cholesterol acyltransferaseacyl-coenzyme A:cholesterol acyltransferasebrain carboxylesterase hBr1carboxylesterase 1 (monocyte/macrophage serine esterase 1)carboxylesterase 2 (liver)cholesteryl ester hydrolasecocaine carboxylesterase
Modification date20141222
dbXrefs MIM : 114835
HGNC : HGNC
Ensembl : ENSG00000198848
HPRD : 00268
Vega : OTTHUMG00000176718
ProteinUniProt: P23141
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CES1
BioGPS: 1066
PathwayNCI Pathway Interaction Database: CES1
KEGG: CES1
REACTOME: CES1
Pathway Commons: CES1
ContextiHOP: CES1
ligand binding site mutation search in PubMed: CES1
UCL Cancer Institute: CES1
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
GO:0030855epithelial cell differentiation21492153


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Ligand binding site mutations for CES1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
V146A148VBRCA1
A222A222VCOAD1
K262K262NCOAD1
G142G142ECOAD1
L299T297MCOAD1
E220G219ECOAD1
L299T297MGBM1
P54A56SHNSC1
D115D115NHNSC1
P85P85LKIRC1
G141I139FKIRC1
P85C87YKIRC1
L418D419ELUSC1
D182E183KSKCM1
L395E394KSKCM1
D115E114KSKCM1
L418F417LSKCM1
P54P54TSKCM1
L306,L308D307VSTAD1
P85C87FSTAD1
V146A148VSTAD1
A222A222VSTAD1
M425V424AUCEC1
L308L308VUCEC1
M425D423GUCEC1
Y83Y83CUCEC1
S247S245YUCEC1
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 CES1
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
S247S245Y0.26012462
G142G142E0.10276648
L308L308V-1.4945915
M425D423G-1.4663765
M425V424A-1.2674176
G141I139F-1.2234419
D115E114K-1.176728
P54A56S-1.1448521
D115D115N-1.0924787
D182E183K-0.92828471
P85P85L-0.89767949
P85C87Y-0.89712518
P85C87F-0.88606474
P54P54T-0.80540432
L418F417L-0.71393719
L395E394K-0.59993688
Y83Y83C-0.50898521
L306D307V-0.49956561
L308D307V-0.49956561
L299T297M-0.45739228
K262K262N-0.43795477
L418D419E-0.23363991
V146A148V-0.13298911
E220G219E-0.1008956
A222A222V-0.050891046
(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 CES1 from PDB

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Differential gene expression and gene-gene network for CES1
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 CES1 and the right PPI network was created from samples without mutations in the LBS of CES1. 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 CES1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0028754Obesity3Biomarker
umls:C0236736Cocaine-Related Disorders2Therapeutic
umls:C0024121Lung Neoplasms2Biomarker
umls:C0270611Brain Injuries1Biomarker
umls:C0020443Hypercholesterolemia1Therapeutic
umls:C0025521Metabolism, Inborn Errors1Biomarker
umls:C0027412Opioid-Related Disorders1Therapeutic
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

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Pharmacological information for CES1

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00198OseltamivirSmall molecule
ApprovedDB00583L-CarnitineSmall molecule
ApprovedDB01599ProbucolSmall molecule
ExperimentalDB02161Hydroxy-Phenyl-Acetic Acid 8-Methyl-8-Aza-Bicyclo[3.2.1]Oct-3-Yl EsterSmall molecule
ApprovedDB02659Cholic AcidSmall molecule
ExperimentalDB030564-Piperidino-PiperidineSmall molecule
ExperimentalDB03721O-Sialic AcidSmall molecule
ExperimentalDB04509N-MethylnaloxoniumSmall molecule
ExperimentalDB04795ThenoyltrifluoroacetoneSmall molecule
ApprovedDB04838CyclandelateSmall molecule
ExperimentalDB07821(1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATESmall molecule
ExperimentalDB08224(1S,7S,8S,8AR)-1,2,3,7,8,8A-HEXAHYDRO-7-METHYL-8-[2-[(2R,4R)-TETRAHYDRO-4-HY DROXY-6-OXO-2H-PYRAN-2-YL]ETHYL]-1-NAPHTHALENOLSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CES1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
SIAN-ACETYLNEURAMINIC ACID1yajDD182
SIAN-ACETYLNEURAMINIC ACID1yajAD182 K262
CTXTRANS FORM OF TAMOXIFEN1ya4AG142
CTXTRANS FORM OF TAMOXIFEN1ya4BG142
CTXTRANS FORM OF TAMOXIFEN1ya4CG142
SMB2-METHYLBUTYRIC ACID1ya8BG142
SMB2-METHYLBUTYRIC ACID1ya8CG142
EEEETHYL ACETATE1yahBG142
SIAN-ACETYLNEURAMINIC ACID1ya8AK262
SIAN-ACETYLNEURAMINIC ACID1ya8BK262
SIAN-ACETYLNEURAMINIC ACID1ya8CK262
SIAN-ACETYLNEURAMINIC ACID1yahAK262
SIAN-ACETYLNEURAMINIC ACID1yajBK262
SIAN-ACETYLNEURAMINIC ACID1yajEK262
SIAN-ACETYLNEURAMINIC ACID1yajHK262
SIAN-ACETYLNEURAMINIC ACID1yajIK262
SIAN-ACETYLNEURAMINIC ACID1yajJK262
SIAN-ACETYLNEURAMINIC ACID1yajKK262
CTXTRANS FORM OF TAMOXIFEN1ya4AL418
CTXTRANS FORM OF TAMOXIFEN1ya4BL418
MVB(1S,7S,8S,8AR)-1,2,3,7,8,8A-HEXAHYDRO-7-METHYL-8-[2-[(2R,4R)-TETRAHYDRO-4-HY DROXY-6-OXO-2H-PYRAN-2-YL]ETHYL]-1-NAPHTHALENOL1ya8CL418
SIAN-ACETYLNEURAMINIC ACID1yajFP54
SIAN-ACETYLNEURAMINIC ACID1yahAY83
SIAN-ACETYLNEURAMINIC ACID1yahBY83
SIAN-ACETYLNEURAMINIC ACID1yajEY83
SIAN-ACETYLNEURAMINIC ACID1yajKY83 P85


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Conservation information for LBS of CES1
Multiple alignments for P23141 in multiple species
LBSAA sequence# speciesSpecies
A222IFGESAGGFSV2Mus musculus, Rattus norvegicus
A222IFGESAGGESV1Homo sapiens
A80SFVKNATSYPP1Homo sapiens
A80SFVKNTTSYPP1Mus musculus
A80NFVKNTTSYPP1Rattus norvegicus
A93SQDAVGGQVLS2Mus musculus, Rattus norvegicus
A93TQDPKAGQLLS1Homo sapiens
D115LQFSEDCLYLN2Mus musculus, Rattus norvegicus
D115LKLSEDCLYLN1Homo sapiens
D182FFSTGDEHSRG2Homo sapiens, Mus musculus
D182FFSTGDEHSQG1Rattus norvegicus
D415TVKKKDLFLDL1Homo sapiens
D415LTKKKDLFQDL1Mus musculus
D415PAKRKDLFQDL1Rattus norvegicus
D90PMCSQDAVGGQ2Mus musculus, Rattus norvegicus
D90PMCTQDPKAGQ1Homo sapiens
E220VTIFGESAGGF2Mus musculus, Rattus norvegicus
E220VTIFGESAGGE1Homo sapiens
F101VLSELFTNRKE2Mus musculus, Rattus norvegicus
F101LLSELFTNRKE1Homo sapiens
F303SLKLNLFKLDL2Mus musculus, Rattus norvegicus
F303TLKMKFLSLDL1Homo sapiens
F426IADVMFGVPSV1Homo sapiens
F426MADVVFGVPSV1Mus musculus
F426VADVMFGVPSV1Rattus norvegicus
G141MVWIHGGGLVV2Mus musculus, Rattus norvegicus
G141MVWIHGGGLMV1Homo sapiens
G142VWIHGGGLVVG2Mus musculus, Rattus norvegicus
G142VWIHGGGLMVG1Homo sapiens
G143WIHGGGLVVGG2Mus musculus, Rattus norvegicus
G143WIHGGGLMVGA1Homo sapiens
G248AISESGVALTS1Homo sapiens
G248AISESGVSLTA1Mus musculus
G248AISESGVVLTS1Rattus norvegicus
G356NKQEFGWIIP-2Mus musculus, Rattus norvegicus
G356NKQEFGWLIPM1Homo sapiens
G371YPLSEGQLDQK1Homo sapiens
G371YPLAEGKLDQK1Mus musculus
G371YPLSEGKLDQK1Rattus norvegicus
G52VAIFLGIPFAK1Homo sapiens
G52VAVFLGVPFAK1Mus musculus
G52VAVFLGIPFAK1Rattus norvegicus
H468TVIGDHGDELF2Homo sapiens, Rattus norvegicus
H468AVIGDHGDEIF1Mus musculus
K262KKGDVKPLAEQ1Homo sapiens
K262TT-DVKPIAGL1Mus musculus
K262TT-DSKPIANL1Rattus norvegicus
K302TSLKLNLFKLD2Mus musculus, Rattus norvegicus
K302TTLKMKFLSLD1Homo sapiens
K414DTVKKKDLFLD1Homo sapiens
K414DLTKKKDLFQD1Mus musculus
K414DPAKRKDLFQD1Rattus norvegicus
K78PWSFVKNATSY1Homo sapiens
K78PWSFVKNTTSY1Mus musculus
K78PWNFVKNTTSY1Rattus norvegicus
K92CSQDAVGGQVL2Mus musculus, Rattus norvegicus
K92CTQDPKAGQLL1Homo sapiens
L255ALTSVLVKKGD1Homo sapiens
L255SLTAALITT-D1Mus musculus
L255VLTSALITT-D1Rattus norvegicus
L299LLETSLKLNLF2Mus musculus, Rattus norvegicus
L299LLETTLKMKFL1Homo sapiens
L304LKLNLFKLDLL2Mus musculus, Rattus norvegicus
L304LKMKFLSLDLQ1Homo sapiens
L306LNLFKLDLLGN2Mus musculus, Rattus norvegicus
L306MKFLSLDLQGD1Homo sapiens
L308LFKLDLLGNPK2Mus musculus, Rattus norvegicus
L308FLSLDLQGDPR1Homo sapiens
L318KESYPFLPTVI2Mus musculus, Rattus norvegicus
L318RESQPLLGTVI1Homo sapiens
L363IIP-TLMGYPL2Mus musculus, Rattus norvegicus
L363LIPMQLMSYPL1Homo sapiens
L368LMSYPLSEGQL1Homo sapiens
L368LMGYPLAEGKL1Mus musculus
L368LMGYPLSEGKL1Rattus norvegicus
L388WKSYPTLKISE2Mus musculus, Rattus norvegicus
L388WKSYPLVCIAK1Homo sapiens
L395CIAKELIPEAT1Homo sapiens
L395KISENMIPVVA1Mus musculus
L395KISEKMIPVVA1Rattus norvegicus
L418KKDLFLDLIAD1Homo sapiens
L418KKDLFQDLMAD1Mus musculus
L418RKDLFQDLVAD1Rattus norvegicus
L51PVAIFLGIPFA1Homo sapiens
L51PVAVFLGVPFA1Mus musculus
L51PVAVFLGIPFA1Rattus norvegicus
L96AVGGQVLSELF2Mus musculus, Rattus norvegicus
L96PKAGQLLSELF1Homo sapiens
L97VGGQVLSELFT2Mus musculus, Rattus norvegicus
L97KAGQLLSELFT1Homo sapiens
M364IPMQLMSYPLS1Homo sapiens
M364IP-TLMGYPLA1Mus musculus
M364IP-TLMGYPLS1Rattus norvegicus
M425LIADVMFGVPS1Homo sapiens
M425LMADVVFGVPS1Mus musculus
M425LVADVMFGVPS1Rattus norvegicus
M459SFSSDMKPKTV1Homo sapiens
M459SFVSAMRPKAV1Mus musculus
M459SFVSAMRPKTV1Rattus norvegicus
N79WSFVKNATSYP1Homo sapiens
N79WSFVKNTTSYP1Mus musculus
N79WNFVKNTTSYP1Rattus norvegicus
P317PKESYPFLPTV2Mus musculus, Rattus norvegicus
P317PRESQPLLGTV1Homo sapiens
P461SSDMKPKTVIG1Homo sapiens
P461VSAMRPKAVIG1Mus musculus
P461VSAMRPKTVIG1Rattus norvegicus
P54IFLGIPFAKPP1Homo sapiens
P54VFLGVPFAKPP1Mus musculus
P54VFLGIPFAKPP1Rattus norvegicus
P84NTTSYPPMCSQ2Mus musculus, Rattus norvegicus
P84NATSYPPMCTQ1Homo sapiens
P85TTSYPPMCSQD2Mus musculus, Rattus norvegicus
P85ATSYPPMCTQD1Homo sapiens
S221TIFGESAGGFS2Mus musculus, Rattus norvegicus
S221TIFGESAGGES1Homo sapiens
S247RAISESGVALT1Homo sapiens
S247RAISESGVSLT1Mus musculus
S247RAISESGVVLT1Rattus norvegicus
S279CKTTTSAVMVH3Homo sapiens, Mus musculus, Rattus norvegicus
S305KLNLFKLDLLG2Mus musculus, Rattus norvegicus
S305KMKFLSLDLQG1Homo sapiens
S365PMQLMSYPLSE1Homo sapiens
S365P-TLMGYPLAE1Mus musculus
S365P-TLMGYPLSE1Rattus norvegicus
S369MSYPLSEGQLD1Homo sapiens
S369MGYPLAEGKLD1Mus musculus
S369MGYPLSEGKLD1Rattus norvegicus
S82VKNTTSYPPMC2Mus musculus, Rattus norvegicus
S82VKNATSYPPMC1Homo sapiens
T252SGVALTSVLVK1Homo sapiens
T252SGVSLTAALIT1Mus musculus
T252SGVVLTSALIT1Rattus norvegicus
T277SGCKTTTSAVM2Mus musculus, Rattus norvegicus
T277AGCKTTTSAVM1Homo sapiens
T278GCKTTTSAVMV3Homo sapiens, Mus musculus, Rattus norvegicus
T81FVKNTTSYPPM2Mus musculus, Rattus norvegicus
T81FVKNATSYPPM1Homo sapiens
V146GGGLVVGGAST2Mus musculus, Rattus norvegicus
V146GGGLMVGAAST1Homo sapiens
V254VALTSVLVKKG1Homo sapiens
V254VSLTAALITT-1Mus musculus
V254VVLTSALITT-1Rattus norvegicus
V464MKPKTVIGDHG1Homo sapiens
V464MRPKAVIGDHG1Mus musculus
V464MRPKTVIGDHG1Rattus norvegicus
W357KQEFGWIIP-T2Mus musculus, Rattus norvegicus
W357KQEFGWLIPMQ1Homo sapiens
Y118SEDCLYLNIYT2Homo sapiens, Mus musculus
Y118SEDCLYLNVYT1Rattus norvegicus
Y366MQLMSYPLSEG1Homo sapiens
Y366-TLMGYPLAEG1Mus musculus
Y366-TLMGYPLSEG1Rattus norvegicus
Y83KNTTSYPPMCS2Mus musculus, Rattus norvegicus
Y83KNATSYPPMCT1Homo sapiens


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