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 GSS
Gene summary
Basic gene Info.Gene symbolGSS
Gene nameglutathione synthetase
SynonymsGSHS|HEL-S-64p|HEL-S-88n
CytomapUCSC genome browser: 20q11.2
Type of geneprotein-coding
RefGenesNM_000178.2,
DescriptionGSH synthetaseGSH-Sepididymis secretory sperm binding protein Li 64pepididymis secretory sperm binding protein Li 88nglutathione synthase
Modification date20141207
dbXrefs MIM : 601002
HGNC : HGNC
Ensembl : ENSG00000100983
HPRD : 03000
Vega : OTTHUMG00000032315
ProteinUniProt: P48637
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GSS
BioGPS: 2937
PathwayNCI Pathway Interaction Database: GSS
KEGG: GSS
REACTOME: GSS
Pathway Commons: GSS
ContextiHOP: GSS
ligand binding site mutation search in PubMed: GSS
UCL Cancer Institute: GSS
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


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Ligand binding site mutations for GSS

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R125S126ABRCA1
M398M398TCOAD1
Q220D219YCOAD1
A453I454FGBM1
K364,E368Q366HLUAD1
Y375Y375CLUSC1
A462A463ELUSC1
Q220D219HOV1
R267R267WSTAD1
G459G459VSTAD1
E144E144KUCEC1
I401E402KUCEC1
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 GSS
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
R267R267W-1.3895428
I401E402K-1.2869031
M398M398T-1.271807
E144E144K-1.1610683
R125S126A-1.0127267
A453I454F-0.97178805
E368Q366H-0.87998677
K364Q366H-0.87998677
Y375Y375C-0.6961106
Q220D219H-0.56147981
Q220D219Y-0.36862515
A462A463E-0.32657517
G459G459V-0.20686602
(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 GSS from PDB

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Differential gene expression and gene-gene network for GSS
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 GSS and the right PPI network was created from samples without mutations in the LBS of GSS. 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 GSS
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0398746Glutathione synthetase deficiency1Biomarker, GeneticVariation
umls:C0007097Carcinoma1Biomarker
umls:C0024667Mammary Neoplasms, Animal1Biomarker
umls:C0024668Mammary Neoplasms, Experimental1Biomarker
umls:C0026636Mouth Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
23566R267WPathogenicGermlineMedGen:C0398746
OMIM:266130
Orphanet:ORPHA32
SNOMED CT:234589002

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Pharmacological information for GSS
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
Approved|nutraceuticalDB00143GlutathioneSmall molecule
Approved|nutraceutical|vet_approvedDB00145GlycineSmall molecule
Approved|nutraceuticalDB00151L-CysteineSmall molecule
ExperimentalDB03408gamma-GlutamylcysteineSmall molecule
ExperimentalDB04395Phosphoaminophosphonic Acid-Adenylate EsterSmall molecule
ApprovedDB06151AcetylcysteineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GSS go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
SO4SULFATE2hgsAA453
MGMAGNESIUM(2+)2hgsAE144 E368
ADPADP2hgsAE144 K364 E368 Y375 M398 I401 G459
SO4SULFATE2hgsAR125 E144 E368
GSHGLUTATHIONATE(1-)2hgsAR125 Q220 R267 E368 A462


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Conservation information for LBS of GSS
Multiple alignments for P48637 in multiple species
LBSAA sequence# speciesSpecies
A150INTISASFGGL3Homo sapiens, Mus musculus, Rattus norvegicus
A150MNTISCSFPGL1Arabidopsis thaliana
A150INTVSASFGGL1Bos taurus
A150FNTVSVSFAGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A150FNTISVSFGGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A453LLRTKAIEHAD3Homo sapiens, Rattus norvegicus, Bos taurus
A453LMRTKIASSDE1Arabidopsis thaliana
A453LLRTKAVEHAD1Mus musculus
A453LLRSKFNTSNE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A453ICRTKPKKTNE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A457KAIEHADGGVA3Homo sapiens, Rattus norvegicus, Bos taurus
A457KIASSDEGGVA1Arabidopsis thaliana
A457KAVEHADGGVA1Mus musculus
A457KFNTSNEGGVA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A457KPKKTNEGGVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A462ADGGVAAGVAV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A462DEGGVAAGFGV1Arabidopsis thaliana
A462NEGGVAAGFGC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A462NEGGVATGYAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D458AIEHADGGVAA3Homo sapiens, Rattus norvegicus, Bos taurus
D458IASSDEGGVAA1Arabidopsis thaliana
D458AVEHADGGVAA1Mus musculus
D458FNTSNEGGVAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D458PKKTNEGGVAT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E144ALKQIEINTIS3Homo sapiens, Mus musculus, Rattus norvegicus
E144SLLQIEMNTIS1Arabidopsis thaliana
E144ALKQIEINTVS1Bos taurus
E144QIKQVEFNTVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E144GCKQVEFNTIS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E214IAQEKERNIFD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E214IVQPEERNMYD1Arabidopsis thaliana
E214IVQRNERNVFD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E214VVKGGERNITD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E368LKPQREGGGNN6Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E368MKPQREGGGNN1Arabidopsis thaliana
E399SYILMEKIEP-4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E399AYILMQRIFP-1Arabidopsis thaliana
E399AYILMELIEPE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E399SYILMRYINA-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E425VQCISELGIFG3Homo sapiens, Mus musculus, Rattus norvegicus
E425HQAISELGVYG1Arabidopsis thaliana
E425IQCISELGIFG1Bos taurus
E425EPIISELGIYG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E425FDVVDEIGILG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F152TISASFGGLAS3Homo sapiens, Mus musculus, Rattus norvegicus
F152TISCSFPGLSR1Arabidopsis thaliana
F152TVSASFGGLAS1Bos taurus
F152TVSVSFAGLSE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F152TISVSFGGVSK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G369KPQREGGGNNL3Homo sapiens, Mus musculus, Bos taurus
G369KPQREGGGNNI1Arabidopsis thaliana
G369KPQREGGGNNF1Rattus norvegicus
G369KPQREGGGNNV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G369KPQREGGGNNT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G370PQREGGGNNLY3Homo sapiens, Mus musculus, Bos taurus
G370PQREGGGNNIY1Arabidopsis thaliana
G370PQREGGGNNFY1Rattus norvegicus
G370PQREGGGNNVY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G370PQREGGGNNTY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G459IEHADGGVAAG3Homo sapiens, Rattus norvegicus, Bos taurus
G459ASSDEGGVAAG1Arabidopsis thaliana
G459VEHADGGVAAG1Mus musculus
G459NTSNEGGVAAG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G459KKTNEGGVATG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G460EHADGGVAAGV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G460SSDEGGVAAGF1Arabidopsis thaliana
G460TSNEGGVAAGF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G460KTNEGGVATGY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H456TKAIEHADGGV3Homo sapiens, Rattus norvegicus, Bos taurus
H456TKIASSDEGGV1Arabidopsis thaliana
H456TKAVEHADGGV1Mus musculus
H456SKFNTSNEGGV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H456TKPKKTNEGGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I143KALKQIEINTI2Mus musculus, Rattus norvegicus
I143PALKQIEINTI1Homo sapiens
I143NSLLQIEMNTI1Arabidopsis thaliana
I143AALKQIEINTV1Bos taurus
I143EQIKQVEFNTV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I143IGCKQVEFNTI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I148IEINTISASFG3Homo sapiens, Mus musculus, Rattus norvegicus
I148IEMNTISCSFP1Arabidopsis thaliana
I148IEINTVSASFG1Bos taurus
I148VEFNTVSVSFA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I148VEFNTISVSFG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I401ILMEKIEP-EP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I401ILMQRIFP-KV1Arabidopsis thaliana
I401ILMELIEPELN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I401ILMRYINA-VP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K305QLAGTKKVQQE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K305HLTGSKKIQQE1Arabidopsis thaliana
K305QLSGSKKIQQL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K305HLAGSKKIQQV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K364SHFVLKPQREG2Mus musculus, Rattus norvegicus
K364SRFVLKPQREG1Homo sapiens
K364GLFVMKPQREG1Arabidopsis thaliana
K364SCFVLKPQREG1Bos taurus
K364SKYVLKPQREG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K364EDFVLKPQREG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K400YILMEKIEP-E4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K400YILMQRIFP-K1Arabidopsis thaliana
K400YILMELIEPEL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K400YILMRYINA-V1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K452HLLRTKAIEHA3Homo sapiens, Rattus norvegicus, Bos taurus
K452YLMRTKIASSD1Arabidopsis thaliana
K452HLLRTKAVEHA1Mus musculus
K452SLLRSKFNTSN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K452FICRTKPKKTN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L410PFRNCLLRPGS3Mus musculus, Rattus norvegicus, Bos taurus
L410PFENCLLRPGS1Homo sapiens
L410VSNMFLVREGV1Arabidopsis thaliana
L410NENNIILRDNK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L410PSQNYILKGER1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M129NRSDYMFQRSA1Homo sapiens
M129HRFDYMLD---1Arabidopsis thaliana
M129NRSDYMFQCGA1Mus musculus
M129NRSDYMFQCSA1Rattus norvegicus
M129NRSDYMFQCNP1Bos taurus
M129FRSDYLIDKK-1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M129FRSDYMVHQD-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M398ASYILMEKIEP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
M398AAYILMQRIFP1Arabidopsis thaliana
M398DAYILMELIEP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M398DSYILMRYINA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N146KQIEINTISAS3Homo sapiens, Mus musculus, Rattus norvegicus
N146LQIEMNTISCS1Arabidopsis thaliana
N146KQIEINTVSAS1Bos taurus
N146KQVEFNTVSVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N146KQVEFNTISVS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N216QEKERNIFDQR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N216QPEERNMYDQH1Arabidopsis thaliana
N216QRNERNVFDQK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N216KGGERNITDQR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N373EGGGNNLYGEE3Homo sapiens, Mus musculus, Bos taurus
N373EGGGNNIYGDD1Arabidopsis thaliana
N373EGGGNNFYGEE1Rattus norvegicus
N373EGGGNNVYKEN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N373EGGGNNTYGKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q220RNIFDQRAIEN3Homo sapiens, Rattus norvegicus, Bos taurus
Q220RNMYDQHLLSS1Arabidopsis thaliana
Q220RNIFDQRAVEN1Mus musculus
Q220RNVFDQKVLEL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q220RNITDQRTLEY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R125FLGLNRSDYMF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R125RLGLHRFDYML1Arabidopsis thaliana
R125RLGIFRSDYLI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R125SLGVFRSDYMV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R267AVVYFRDGYMP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R267AVVYFRSGYTP1Arabidopsis thaliana
R267AVVYYRTGYTT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R267AVVYYRVGYAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R412RNCLLRPGSPA3Mus musculus, Rattus norvegicus, Bos taurus
R412ENCLLRPGSPA1Homo sapiens
R412NMFLVREGVYH1Arabidopsis thaliana
R412NNIILRDNKSY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R412QNYILKGERPE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R418PGSPAQVVQCI2Mus musculus, Rattus norvegicus
R418PGSPARVVQCI1Homo sapiens
R418EGVYHK-HQAI1Arabidopsis thaliana
R418PGSPARVIQCI1Bos taurus
R418DNKSYN-EPII1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R418GERPEK-FDVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R450VGHLLRTKAIE3Homo sapiens, Rattus norvegicus, Bos taurus
R450SGYLMRTKIAS1Arabidopsis thaliana
R450VGHLLRTKAVE1Mus musculus
R450SGSLLRSKFNT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R450SGFICRTKPKK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S149EINTISASFGG3Homo sapiens, Mus musculus, Rattus norvegicus
S149EMNTISCSFPG1Arabidopsis thaliana
S149EINTVSASFGG1Bos taurus
S149EFNTVSVSFAG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S149EFNTISVSFGG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S151NTISASFGGLA3Homo sapiens, Mus musculus, Rattus norvegicus
S151NTISCSFPGLS1Arabidopsis thaliana
S151NTVSASFGGLA1Bos taurus
S151NTVSVSFAGLS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S151NTISVSFGGVS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V362APSHFVLKPQR2Mus musculus, Rattus norvegicus
V362APSRFVLKPQR1Homo sapiens
V362KPGLFVMKPQR1Arabidopsis thaliana
V362APSCFVLKPQR1Bos taurus
V362EPSKYVLKPQR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V362KPEDFVLKPQR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V461HADGGVAAGVA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V461SDEGGVAAGFG1Arabidopsis thaliana
V461SNEGGVAAGFG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V461TNEGGVATGYA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y270YFRDGYMPSQY2Mus musculus, Rattus norvegicus
Y270YFRDGYMPRQY1Homo sapiens
Y270YFRSGYTPNDH1Arabidopsis thaliana
Y270YFRDGYMPGHY1Bos taurus
Y270YYRTGYTTTDY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y270YYRVGYALDDY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y375GGNNLYGEEMV3Homo sapiens, Mus musculus, Bos taurus
Y375GGNNIYGDDVR1Arabidopsis thaliana
Y375GGNNFYGEEMV1Rattus norvegicus
Y375GGNNVYKENIP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y375GGNNTYGKDIP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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