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 SERPINE1
Gene summary
Basic gene Info.Gene symbolSERPINE1
Gene nameserpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SynonymsPAI|PAI-1|PAI1|PLANH1
CytomapUCSC genome browser: 7q22.1
Type of geneprotein-coding
RefGenesNM_000602.4,
NM_001165413.2,
Descriptionendothelial plasminogen activator inhibitorplasminogen activator inhibitor 1serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1serpin E1
Modification date20141222
dbXrefs MIM : 173360
HGNC : HGNC
Ensembl : ENSG00000106366
HPRD : 01418
Vega : OTTHUMG00000157107
ProteinUniProt: P05121
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SERPINE1
BioGPS: 5054
PathwayNCI Pathway Interaction Database: SERPINE1
KEGG: SERPINE1
REACTOME: SERPINE1
Pathway Commons: SERPINE1
ContextiHOP: SERPINE1
ligand binding site mutation search in PubMed: SERPINE1
UCL Cancer Institute: SERPINE1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0010469regulation of receptor activity8837777
GO:0010757negative regulation of plasminogen activation8508955
GO:0010951negative regulation of endopeptidase activity1695900
GO:0014912negative regulation of smooth muscle cell migration8837777
GO:0030336negative regulation of cell migration10902815
GO:0033629negative regulation of cell adhesion mediated by integrin8837777
GO:0048260positive regulation of receptor-mediated endocytosis8626514
GO:0051918negative regulation of fibrinolysis2503541
GO:2000098negative regulation of smooth muscle cell-matrix adhesion8837777


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Ligand binding site mutations for SERPINE1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
P250P250ABRCA1
L270A272VCOAD1
T116I114VCOAD1
S64S64LCOAD1
D118A119SCOAD1
V340V340IGBM1
T237T238AHNSC1
Y60G61RHNSC1
V340V340IHNSC1
T143T143KLUAD1
K145V147LLUAD1
D118A119VOV1
L249E248KSKCM1
L183D181NSKCM1
H33L34VSTAD1
Q324Q326HUCEC1
H26H26RUCEC1
W162W162CUCEC1
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 SERPINE1
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
S64S64L0.52859295
L183D181N0.11339564
T116I114V-1.7641801
P250P250A-1.537561
W162W162C-1.4684006
K145V147L-1.3280167
D118A119S-1.3049474
T237T238A-0.96877346
L249E248K-0.9480891
D118A119V-0.83736051
T143T143K-0.80483022
Y60G61R-0.68666812
L270A272V-0.68599612
H33L34V-0.58065562
V340V340I-0.31166372
Q324Q326H-0.23305377
H26H26R-0.11749262
(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 SERPINE1 from PDB

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Differential gene expression and gene-gene network for SERPINE1
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 SERPINE1 and the right PPI network was created from samples without mutations in the LBS of SERPINE1. 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 SERPINE1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0028754Obesity64Biomarker, GeneticVariation
umls:C0020538Hypertension37AlteredExpression, Biomarker, GeneticVariation
umls:C0004153Atherosclerosis35AlteredExpression, Biomarker, GeneticVariation
umls:C0040053Thrombosis22Biomarker, GeneticVariation
umls:C0011881Diabetic Nephropathies14Biomarker
umls:C0032914Pre-Eclampsia10Biomarker, GeneticVariation
umls:C0023903Liver Neoplasms10Biomarker
umls:C0038356Stomach Neoplasms5AlteredExpression, Biomarker, GeneticVariation
umls:C0022661Kidney Failure, Chronic5Biomarker, GeneticVariation
umls:C0017661Glomerulonephritis, IGA5Biomarker, GeneticVariation
umls:C0004943Behcet Syndrome3Biomarker, GeneticVariation
umls:C0015695Fatty Liver3Biomarker
umls:C0033578Prostatic Neoplasms3AlteredExpression, Biomarker
umls:C0027726Nephrotic Syndrome3Biomarker
umls:C0004352Autistic Disorder2Biomarker
umls:C0018801Heart Failure2Biomarker
umls:C0008370Cholestasis1Biomarker
umls:C0011853Diabetes Mellitus, Experimental1Biomarker
umls:C0017668Glomerulosclerosis, Focal Segmental1Biomarker
umls:C0027765Nervous System Diseases1Biomarker
umls:C0035228Respiratory Hypersensitivity1Biomarker

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

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Pharmacological information for SERPINE1
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
ApprovedDB00009AlteplaseBiotech
Approved|investigational|withdrawnDB00013UrokinaseBiotech
ApprovedDB00015ReteplaseBiotech
ApprovedDB00029AnistreplaseBiotech
ApprovedDB00031TenecteplaseBiotech
Approved|investigational|withdrawnDB00055Drotrecogin alfaBiotech
WithdrawnDB00197TroglitazoneSmall molecule
InvestigationalDB05254PlasminSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SERPINE1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FUCALPHA-L-FUCOPYRANOSE3r4lAT237


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Conservation information for LBS of SERPINE1
Multiple alignments for P05121 in multiple species
LBSAA sequence# speciesSpecies
A191LVLVNALYFNG3Homo sapiens, Rattus norvegicus, Bos taurus
A341EPLHVAQALQK1Homo sapiens
A341EQLSVAQALQK1Rattus norvegicus
A341EFLYVSQALQK1Bos taurus
A67VASVLAMLQLT2Homo sapiens, Bos taurus
A67VSSVLAMLQLT1Rattus norvegicus
D118EISTADAIFVQ2Rattus norvegicus, Bos taurus
D118EISTTDAIFVQ1Homo sapiens
D254LPYHGDTLSMF1Homo sapiens
D254LPYHGETLSMF1Rattus norvegicus
D254LPYHGNTLSML1Bos taurus
E336SLSDQEPLHVA1Homo sapiens
E336SLSDQEQLSVA1Rattus norvegicus
E336SFSDQEFLYVS1Bos taurus
E350QKVKIEVNESG3Homo sapiens, Rattus norvegicus, Bos taurus
F140HFFRLFRSTVK1Homo sapiens
F140HFFKLFRTTVK1Rattus norvegicus
F140NFFRLFRTTVK1Bos taurus
F194VNALYFNGQWK3Homo sapiens, Rattus norvegicus, Bos taurus
F231AQTNKFNYTEF2Homo sapiens, Bos taurus
F231AQNNKFNYTEF1Rattus norvegicus
F236FNYTEFTTPDG3Homo sapiens, Rattus norvegicus, Bos taurus
F395TGTVLFMGQVM2Homo sapiens, Bos taurus
F395TETILFMGQLM1Rattus norvegicus
G196ALYFNGQWKTP2Homo sapiens, Rattus norvegicus
G196ALYFNGQWKMP1Bos taurus
H166DWVKTHTKGMI1Homo sapiens
H166DWVERHTKGMI1Rattus norvegicus
H166DWVKRHTKGMI1Bos taurus
H25EGSAVHHPPSY1Homo sapiens
H25KGFASPLPESH1Rattus norvegicus
H25EGSASYQPQSA1Bos taurus
H26GSAVHHPPSYV1Homo sapiens
H26GFASPLPESHT1Rattus norvegicus
H26GSASYQPQSAA1Bos taurus
H33PSYVAHLASDF1Homo sapiens
H33ESHTAQQATNF1Rattus norvegicus
H33QSAAASLATDF1Bos taurus
H339DQEPLHVAQAL1Homo sapiens
H339DQEQLSVAQAL1Rattus norvegicus
H339DQEFLYVSQAL1Bos taurus
I349LQKVKIEVNES3Homo sapiens, Rattus norvegicus, Bos taurus
I89AMGFKIDDKGM1Homo sapiens
I89AMGFNISERGT1Rattus norvegicus
I89AMQFKIEEKGM1Bos taurus
K145FRTTVKQVDFS2Rattus norvegicus, Bos taurus
K145FRSTVKQVDFS1Homo sapiens
K199FNGQWKTPFPD1Homo sapiens
K199FNGQWKTPFLE1Rattus norvegicus
K199FNGQWKMPFPE1Bos taurus
K230MAQTNKFNYTE2Homo sapiens, Bos taurus
K230MAQNNKFNYTE1Rattus norvegicus
K346AQALQKVKIEV2Homo sapiens, Rattus norvegicus
K346SQALQKVKIEV1Bos taurus
K348ALQKVKIEVNE3Homo sapiens, Rattus norvegicus, Bos taurus
L101PALRHLYKELM1Homo sapiens
L101PALRKLSKELM1Rattus norvegicus
L101PAFHRLYKELM1Bos taurus
L183GAVDQLTRLVL2Homo sapiens, Bos taurus
L183GAVNELTRLVL1Rattus norvegicus
L186DQLTRLVLVNA2Homo sapiens, Bos taurus
L186NELTRLVLVNA1Rattus norvegicus
L188LTRLVLVNALY3Homo sapiens, Rattus norvegicus, Bos taurus
L192VLVNALYFNGQ3Homo sapiens, Rattus norvegicus, Bos taurus
L249YDILELPYHGD1Homo sapiens
L249YDILELPYHGE1Rattus norvegicus
L249YDILELPYHGN1Bos taurus
L270EKEVPLSALTN1Homo sapiens
L270EKDVPLSAITN1Rattus norvegicus
L270EKEVPLSALTS1Bos taurus
L338SDQEPLHVAQA1Homo sapiens
L338SDQEQLSVAQA1Rattus norvegicus
L338SDQEFLYVSQA1Bos taurus
L344HVAQALQKVKI1Homo sapiens
L344SVAQALQKVKI1Rattus norvegicus
L344YVSQALQKVKI1Bos taurus
L98GMAPALRHLYK1Homo sapiens
L98GTAPALRKLSK1Rattus norvegicus
L98GMAPAFHRLYK1Bos taurus
M170RHTKGMISDLL2Rattus norvegicus, Bos taurus
M170THTKGMISNLL1Homo sapiens
M68ASVLAMLQLTT2Homo sapiens, Bos taurus
M68SSVLAMLQLTT1Rattus norvegicus
N195NALYFNGQWKT2Homo sapiens, Rattus norvegicus
N195NALYFNGQWKM1Bos taurus
N229MMAQTNKFNYT2Homo sapiens, Bos taurus
N229MMAQNNKFNYT1Rattus norvegicus
N232QTNKFNYTEFT2Homo sapiens, Bos taurus
N232QNNKFNYTEFT1Rattus norvegicus
N288SHWKGNMTRLP1Homo sapiens
N288RQWKSNMTRLP1Rattus norvegicus
N288SQWKGNMTRLT1Bos taurus
N352VKIEVNESGTV2Homo sapiens, Rattus norvegicus
N352VKIEVNESGTL1Bos taurus
P250DILELPYHGDT1Homo sapiens
P250DILELPYHGET1Rattus norvegicus
P250DILELPYHGNT1Bos taurus
P269YEKEVPLSALT2Homo sapiens, Bos taurus
P269FEKDVPLSAIT1Rattus norvegicus
P337LSDQEPLHVAQ1Homo sapiens
P337LSDQEQLSVAQ1Rattus norvegicus
P337FSDQEFLYVSQ1Bos taurus
P380IIMDRPFLFVV2Homo sapiens, Bos taurus
P380MVLDRSFLFVV1Rattus norvegicus
Q227VPMMAQTNKFN2Homo sapiens, Bos taurus
Q227VPMMAQNNKFN1Rattus norvegicus
Q324TDMFRQFQADF1Homo sapiens
Q324TDIFSSTQADF1Rattus norvegicus
Q324TDMFRPSQADF1Bos taurus
Q342PLHVAQALQKV1Homo sapiens
Q342QLSVAQALQKV1Rattus norvegicus
Q342FLYVSQALQKV1Bos taurus
Q345VAQALQKVKIE2Homo sapiens, Rattus norvegicus
Q345VSQALQKVKIE1Bos taurus
R141FFRLFRSTVKQ1Homo sapiens
R141FFKLFRTTVKQ1Rattus norvegicus
R141FFRLFRTTVKQ1Bos taurus
R185VDQLTRLVLVN2Homo sapiens, Bos taurus
R185VNELTRLVLVN1Rattus norvegicus
R291KGNMTRLPRLL1Homo sapiens
R291KSNMTRLPRLL1Rattus norvegicus
R291KGNMTRLTRLL1Bos taurus
R379EIIMDRPFLFV2Homo sapiens, Bos taurus
R379EMVLDRSFLFV1Rattus norvegicus
R99MAPALRHLYKE1Homo sapiens
R99TAPALRKLSKE1Rattus norvegicus
R99MAPAFHRLYKE1Bos taurus
S142FRLFRSTVKQV1Homo sapiens
S142FKLFRTTVKQV1Rattus norvegicus
S142FRLFRTTVKQV1Bos taurus
S215RLFHKSDGSTI2Rattus norvegicus, Bos taurus
S215RLFHKSDGSTV1Homo sapiens
S29VHHPPSYVAHL1Homo sapiens
S29SPLPESHTAQQ1Rattus norvegicus
S29SYQPQSAAASL1Bos taurus
S58RNVVFSPYGVA2Homo sapiens, Bos taurus
S58RNVVFSPYGVS1Rattus norvegicus
S64PYGVASVLAML2Homo sapiens, Bos taurus
S64PYGVSSVLAML1Rattus norvegicus
T116KDEISTTDAIF1Homo sapiens
T116KNEISTADAIF1Rattus norvegicus
T116KDEISTADAIF1Bos taurus
T117DEISTTDAIFV1Homo sapiens
T117NEISTADAIFV1Rattus norvegicus
T117DEISTADAIFV1Bos taurus
T143RLFRSTVKQVD1Homo sapiens
T143KLFRTTVKQVD1Rattus norvegicus
T143RLFRTTVKQVD1Bos taurus
T167WVKTHTKGMIS1Homo sapiens
T167WVERHTKGMIS1Rattus norvegicus
T167WVKRHTKGMIS1Bos taurus
T184AVDQLTRLVLV2Homo sapiens, Bos taurus
T184AVNELTRLVLV1Rattus norvegicus
T200NGQWKTPFPDS1Homo sapiens
T200NGQWKTPFLEA1Rattus norvegicus
T200NGQWKMPFPES1Bos taurus
T237NYTEFTTPDGH2Homo sapiens, Rattus norvegicus
T237NYTEFTTPDGR1Bos taurus
V187QLTRLVLVNAL2Homo sapiens, Bos taurus
V187ELTRLVLVNAL1Rattus norvegicus
V24GEGSAVHHPPS1Homo sapiens
V24GKGFASPLPES1Rattus norvegicus
V24GEGSASYQPQS1Bos taurus
V340QEPLHVAQALQ1Homo sapiens
V340QEQLSVAQALQ1Rattus norvegicus
V340QEFLYVSQALQ1Bos taurus
V347QALQKVKIEVN3Homo sapiens, Rattus norvegicus, Bos taurus
V351KVKIEVNESGT3Homo sapiens, Rattus norvegicus, Bos taurus
V65YGVASVLAMLQ2Homo sapiens, Bos taurus
V65YGVSSVLAMLQ1Rattus norvegicus
W162FIINDWVKTHT1Homo sapiens
W162FIINDWVERHT1Rattus norvegicus
W162FIVNDWVKRHT1Bos taurus
W198YFNGQWKTPFP1Homo sapiens
W198YFNGQWKTPFL1Rattus norvegicus
W198YFNGQWKMPFP1Bos taurus
Y102ALRHLYKELMG1Homo sapiens
Y102ALRKLSKELMG1Rattus norvegicus
Y102AFHRLYKELMG1Bos taurus
Y193LVNALYFNGQW3Homo sapiens, Rattus norvegicus, Bos taurus
Y251ILELPYHGDTL1Homo sapiens
Y251ILELPYHGETL1Rattus norvegicus
Y251ILELPYHGNTL1Bos taurus
Y30HHPPSYVAHLA1Homo sapiens
Y30PLPESHTAQQA1Rattus norvegicus
Y30YQPQSAAASLA1Bos taurus
Y60VVFSPYGVASV2Homo sapiens, Bos taurus
Y60VVFSPYGVSSV1Rattus norvegicus


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