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 GLO1

Gene summary

Basic gene Info.	Gene symbol	GLO1
	Gene name	glyoxalase I
	Synonyms	GLOD1\|GLYI\|HEL-S-74
	Cytomap	UCSC genome browser: 6p21.3-p21.1
	Type of gene	protein-coding
	RefGenes	NM_006708.2,
	Description	S-D-lactoylglutathione methylglyoxal lyasealdoketomutaseepididymis secretory protein Li 74glx Iglyoxalase domain containing 1ketone-aldehyde mutaselactoyl glutathione lyaselactoylglutathione lyasemethylglyoxalase
	Modification date	20141207
dbXrefs	MIM : 138750
	HGNC : HGNC
	Ensembl : ENSG00000124767
	HPRD : 00730
	Vega : OTTHUMG00000014636
Protein	UniProt: Q04760 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_GLO1
	BioGPS: 2739
Pathway	NCI Pathway Interaction Database: GLO1
	KEGG: GLO1
	REACTOME: GLO1
	Pathway Commons: GLO1
Context	iHOP: GLO1
	ligand binding site mutation search in PubMed: GLO1
	UCL Cancer Institute: GLO1
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID	GO Term	PubMed ID
GO:0043066	negative regulation of apoptotic process	11489834

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Ligand binding site mutations for GLO1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
L11	G10C	OV	1
F63	P64S	SKCM	1

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 GLO1

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.

LBS	AAchange of nsSNV	Relative stability change
F63	P64S	-1.4102214
L11	G10C	-1.0783317

(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 GLO1 from PDB

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Differential gene expression and gene-gene network for GLO1

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 GLO1 and the right PPI network was created from samples without mutations in the LBS of GLO1. 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 GLO1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0004352	Autistic Disorder	5	Biomarker, GeneticVariation
umls:C0003469	Anxiety Disorders	4	Biomarker
umls:C0025202	Melanoma	1	Biomarker
umls:C0011581	Depressive Disorder	1	Biomarker
umls:C0279626	Esophageal Squamous Cell Carcinoma	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for GLO1

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 status	DrugBank ID	Name	Type	Drug structure
Approved\|nutraceutical	DB00143	Glutathione	Small molecule
Approved\|investigational	DB00328	Indomethacin	Small molecule
Experimental	DB03130	S-P-Nitrobenzyloxycarbonylglutathione	Small molecule
Experimental	DB03330	S-(N-Hydroxy-N-Iodophenylcarbamoyl)Glutathione	Small molecule
Experimental	DB03345	Beta-Mercaptoethanol	Small molecule
Experimental	DB03602	S-Benzyl-Glutathione	Small molecule
Experimental	DB04132	S-Hexylglutathione	Small molecule
Experimental	DB08179	methyl 4-(2,3-dihydroxy-5-methylphenoxy)-2-hydroxy-6-methylbenzoate	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GLO1 go to BioLip

Ligand ID

Ligand short name

Ligand long name

PDB ID

PDB name

mutLBS

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Conservation information for LBS of GLO1

Multiple alignments for Q04760 in multiple species

LBS	AA sequence	# species	Species
A181	NPNKMATLM--	1	Homo sapiens
A181	DLKTIGTTTVN	1	Arabidopsis thaliana
A181	NPNKIATII--	1	Mus musculus
A181	NPNKMATII--	1	Rattus norvegicus
A181	EQK--------	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A181	PHGLIA-----	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A97	ALSRKATLELT	1	Homo sapiens
A97	TFGQPATIELT	1	Arabidopsis thaliana
A97	TFSRKATLELT	1	Mus musculus
A97	AFSRKATLELT	1	Rattus norvegicus
A97	---REGLLELT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A97	VFSCESVLELT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C61	TLIQKCDFPIM	1	Homo sapiens
C61	SLLKRLDFSEM	1	Arabidopsis thaliana
C61	TLLQKLDFPAM	1	Mus musculus
C61	TLLQKLDFPSM	1	Rattus norvegicus
C61	KVIDKADHPNG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C61	KLLRTSEHESA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E100	RKATLELTHNW	3	Homo sapiens, Mus musculus, Rattus norvegicus
E100	QPATIELTHNW	1	Arabidopsis thaliana
E100	REGLLELTHNW	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E100	CESVLELTHNW	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E173	DGYWIEILNPN	3	Homo sapiens, Mus musculus, Rattus norvegicus
E173	DGYWIEIFDLK	1	Arabidopsis thaliana
E173	DNYWVEVIEQK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E173	DGYSIEVVPHG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F163	MKGLAFIQDPD	2	Homo sapiens, Mus musculus
F163	MKNIAFIKDPD	1	Arabidopsis thaliana
F163	MKGLAFVQDPD	1	Rattus norvegicus
F163	MKDIAFLLDPD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F163	MKNIAFLKDPD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F63	IQKCDFPIMKF	1	Homo sapiens
F63	LKRLDFSEMKF	1	Arabidopsis thaliana
F63	LQKLDFPAMKF	1	Mus musculus
F63	LQKLDFPSMKF	1	Rattus norvegicus
F63	IDKADHPNGKF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F63	LRTSEHESAKF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F68	FPIMKFSLYFL	1	Homo sapiens
F68	FSEMKFSLYFL	1	Arabidopsis thaliana
F68	FPAMKFSLYFL	1	Mus musculus
F68	FPSMKFSLYFL	1	Rattus norvegicus
F68	HPNGKFTNYFL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F68	HESAKFTLYFL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F72	KFSLYFLAYED	3	Homo sapiens, Mus musculus, Rattus norvegicus
F72	KFSLYFLGYED	1	Arabidopsis thaliana
F72	KFTNYFLAY--	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F72	KFTLYFLGY--	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G156	KKPDDGKMKGL	3	Homo sapiens, Mus musculus, Rattus norvegicus
G156	KKPNDGKMKNI	1	Arabidopsis thaliana
G156	KKLTDGRMKDI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G156	PKFNQGRMKNI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H127	PRGFGHIGIAV	3	Homo sapiens, Mus musculus, Rattus norvegicus
H127	PRGFGHIGVTV	1	Arabidopsis thaliana
H127	EKGYGHVCISV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H127	PQGYGHICISC	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I89	EKDEKIAWALS	1	Homo sapiens
I89	DPTERTVWTFG	1	Arabidopsis thaliana
I89	DKSEKTAWTFS	1	Mus musculus
I89	DKTERTAWAFS	1	Rattus norvegicus
I89	HD---------	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I89	TDS-----VFS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K151	-VKFVKKPDDG	3	Homo sapiens, Mus musculus, Rattus norvegicus
K151	-VEFAKKPNDG	1	Arabidopsis thaliana
K151	-LPFKKKLTDG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K151	KIQWSPKFNQG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K157	KPDDGKMKGLA	3	Homo sapiens, Mus musculus, Rattus norvegicus
K157	KPNDGKMKNIA	1	Arabidopsis thaliana
K157	KLTDGRMKDIA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K157	KFNQGRMKNIA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L11	-----LTDEAA	2	Homo sapiens, Rattus norvegicus
L11	-----LSTN--	1	Arabidopsis thaliana
L11	-----LTDETA	1	Mus musculus
L11	FGHICFTVDNI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L11	FGHICFSVSDI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L161	GKMKGLAFIQD	2	Homo sapiens, Mus musculus
L161	GKMKNIAFIKD	1	Arabidopsis thaliana
L161	GKMKGLAFVQD	1	Rattus norvegicus
L161	GRMKDIAFLLD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L161	GRMKNIAFLKD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L183	NKMATLM----	1	Homo sapiens
L183	KTIGTTTVNAA	1	Arabidopsis thaliana
L183	NKIATII----	1	Mus musculus
L183	NKMATII----	1	Rattus norvegicus
L183	K----------	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L183	GLIA-------	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L70	IMKFSLYFLAY	1	Homo sapiens
L70	EMKFSLYFLGY	1	Arabidopsis thaliana
L70	AMKFSLYFLAY	1	Mus musculus
L70	SMKFSLYFLAY	1	Rattus norvegicus
L70	NGKFTNYFLAY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L70	SAKFTLYFLGY	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L93	KIAWALSRKAT	1	Homo sapiens
L93	RTVWTFGQPAT	1	Arabidopsis thaliana
L93	KTAWTFSRKAT	1	Mus musculus
L93	RTAWAFSRKAT	1	Rattus norvegicus
L93	-------REGL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L93	----VFSCESV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M1	-----MAEPQP	3	Homo sapiens, Mus musculus, Rattus norvegicus
M1	--MASEARESP	1	Arabidopsis thaliana
M1	YNFGTEKKEGP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M1	HNWGTEKNPDY	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M158	PDDGKMKGLAF	3	Homo sapiens, Mus musculus, Rattus norvegicus
M158	PNDGKMKNIAF	1	Arabidopsis thaliana
M158	LTDGRMKDIAF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M158	FNQGRMKNIAF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M180	LNPNKMATLM-	1	Homo sapiens
M180	FDLKTIGTTTV	1	Arabidopsis thaliana
M180	LNPNKIATII-	1	Mus musculus
M180	LNPNKMATII-	1	Rattus norvegicus
M180	IEQK-------	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M180	VPHGLIA----	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M36	LLQQTMLRIKD	2	Mus musculus, Rattus norvegicus
M36	LLQQTMLRVKD	1	Homo sapiens
M36	IMQQTMFRIKD	1	Arabidopsis thaliana
M36	RFNHTMVRVKD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M36	KFNHTMIRIKN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M66	CDFPIMKFSLY	1	Homo sapiens
M66	LDFSEMKFSLY	1	Arabidopsis thaliana
M66	LDFPAMKFSLY	1	Mus musculus
M66	LDFPSMKFSLY	1	Rattus norvegicus
M66	ADHPNGKFTNY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M66	SEHESAKFTLY	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N104	LELTHNWGTED	3	Homo sapiens, Mus musculus, Rattus norvegicus
N104	IELTHNWGTES	1	Arabidopsis thaliana
N104	LELTHNWGTEK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N104	LELTHNWGTEN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q34	DFLLQQTMLRI	2	Mus musculus, Rattus norvegicus
Q34	DFLLQQTMLRV	1	Homo sapiens
Q34	GYIMQQTMFRI	1	Arabidopsis thaliana
Q34	NFRFNHTMVRV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q34	N-KFNHTMIRI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q59	GLTLLQKLDFP	2	Mus musculus, Rattus norvegicus
Q59	GMTLIQKCDFP	1	Homo sapiens
Q59	GMSLLKRLDFS	1	Arabidopsis thaliana
Q59	GMKVIDKADHP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q59	GMKLLRTSEHE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R123	N-SDPRGFGHI	3	Homo sapiens, Mus musculus, Rattus norvegicus
R123	N-SEPRGFGHI	1	Arabidopsis thaliana
R123	NDGDEKGYGHV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R123	N-SEPQGYGHI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R38	QQTMLRIKDPK	2	Mus musculus, Rattus norvegicus
R38	QQTMLRVKDPK	1	Homo sapiens
R38	QQTMFRIKDPK	1	Arabidopsis thaliana
R38	NHTMVRVKDPE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R38	NHTMIRIKNPT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T102	ATLELTHNWGT	3	Homo sapiens, Mus musculus, Rattus norvegicus
T102	ATIELTHNWGT	1	Arabidopsis thaliana
T102	GLLELTHNWGT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T102	SVLELTHNWGT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V150	--VKFVKKPDD	3	Homo sapiens, Mus musculus, Rattus norvegicus
V150	--VEFAKKPND	1	Arabidopsis thaliana
V150	--LPFKKKLTD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V150	DKIQWSPKFNQ	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W171	DPDGYWIEILN	3	Homo sapiens, Mus musculus, Rattus norvegicus
W171	DPDGYWIEIFD	1	Arabidopsis thaliana
W171	DPDNYWVEVIE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W171	DPDGYSIEVVP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)