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 GLA
Gene summary
Basic gene Info.Gene symbolGLA
Gene namegalactosidase, alpha
SynonymsGALA
CytomapUCSC genome browser: Xq22
Type of geneprotein-coding
RefGenesNM_000169.2,
Descriptionagalsidase alfaalpha-D-galactosidase Aalpha-D-galactoside galactohydrolase 1alpha-gal Aalpha-galactosidase Amelibiase
Modification date20141219
dbXrefs MIM : 300644
HGNC : HGNC
Ensembl : ENSG00000102393
HPRD : 02357
Vega : OTTHUMG00000022026
ProteinUniProt: P06280
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GLA
BioGPS: 2717
PathwayNCI Pathway Interaction Database: GLA
KEGG: GLA
REACTOME: GLA
Pathway Commons: GLA
ContextiHOP: GLA
ligand binding site mutation search in PubMed: GLA
UCL Cancer Institute: GLA
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:0009311oligosaccharide metabolic process39940


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Ligand binding site mutations for GLA

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D93D93HBRCA1
E203C202YCOAD1
Y173Y173CLUSC1
Y173C172WSKCM1
R38A37TUCEC1
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 GLA
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
Y173C172W-1.7012345
D93D93H-1.1240811
R38A37T-0.59878281
E203C202Y-0.49900298
Y173Y173C-0.40225542
(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 GLA from PDB

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Differential gene expression and gene-gene network for GLA
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 GLA and the right PPI network was created from samples without mutations in the LBS of GLA. 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 GLA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0002986Fabry Disease237AlteredExpression, Biomarker, GeneticVariation
umls:C0002985Angiokeratoma2Biomarker, Therapeutic

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

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Pharmacological information for GLA
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
InvestigationalDB05018MigalastatSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GLA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GLAALPHA-D-GALACTOSE3lxaAD93
GLAALPHA-D-GALACTOSE3lxaBD93
GALBETA-D-GALACTOSE1r47AD93 E203
GALBETA-D-GALACTOSE1r47BD93 E203
GLAALPHA-D-GALACTOSE3gxpAD93 E203
GLAALPHA-D-GALACTOSE3gxpBD93 E203
NOJ1-DEOXYNOJIRIMYCIN3gxtAD93 E203
NOJ1-DEOXYNOJIRIMYCIN3gxtBD93 E203
GLAALPHA-D-GALACTOSE3hg3AD93 E203
GLAALPHA-D-GALACTOSE3hg3BD93 E203
7JZ2-DEOXY-2,2-DIFLUORO-BETA-D-GALACTOPYRANOSYL-ENZYMEINTERMEDIATE3hg4AD93 E203
7JZ2-DEOXY-2,2-DIFLUORO-BETA-D-GALACTOPYRANOSYL-ENZYMEINTERMEDIATE3hg4BD93 E203
GLAALPHA-D-GALACTOSE3hg5AD93 E203
GLAALPHA-D-GALACTOSE3hg5BD93 E203
DGJ1-DEOXYGALACTONOJIRIMYCIN3s5yAD93 E203
DGJ1-DEOXYGALACTONOJIRIMYCIN3s5yBD93 E203
GLAALPHA-D-GALACTOSE3s5zAD93 E203
GLAALPHA-D-GALACTOSE3s5zBD93 E203
DGJ1-DEOXYGALACTONOJIRIMYCIN3tv8AD93 E203
DGJ1-DEOXYGALACTONOJIRIMYCIN3tv8BD93 E203
2OZ(2R,3S,4R,5S)-N-(4-FLUOROPHENYL)-3,4,5-TRIHYDROXY-2- (HYDROXYMETHYL)PIPERIDINE-1-CARBOTHIOAMIDE4nxsAE203
2OZ(2R,3S,4R,5S)-N-(4-FLUOROPHENYL)-3,4,5-TRIHYDROXY-2- (HYDROXYMETHYL)PIPERIDINE-1-CARBOTHIOAMIDE4nxsBE203
MANALPHA-D-MANNOSE3lx9BR38
XYPBETA-D-XYLOSE3s5yAR38
XYPBETA-D-XYLOSE3s5yBR38
XYPBETA-D-XYLOSE3s5zAR38
NAGALDEHYDO-N-ACETYL-D-GLUCOSAMINE1r46BY173
NAGALDEHYDO-N-ACETYL-D-GLUCOSAMINE3gxtAY173
NAGALDEHYDO-N-ACETYL-D-GLUCOSAMINE3s5yAY173
NAGALDEHYDO-N-ACETYL-D-GLUCOSAMINE3s5yBY173
NAGALDEHYDO-N-ACETYL-D-GLUCOSAMINE3tv8AY173


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Conservation information for LBS of GLA
Multiple alignments for P06280 in multiple species
LBSAA sequence# speciesSpecies
C142VGNKTCAG-FP1Homo sapiens
C142AGKYTCAG-FP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C142AGTLTCSQTMP1Arabidopsis thaliana
C142AGSQTCSNKMP1Oryza sativa subsp. japonica
C174FDGCYCDSLEN1Homo sapiens
C174YDNCFNEGKSG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C174YDNCENTGTS-1Arabidopsis thaliana
C174YDNCNDAGRS-1Oryza sativa subsp. japonica
D170DLLKFDGCYCD1Homo sapiens
D170DYLKYDNCFNE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D170DYLKYDNCENT1Arabidopsis thaliana
D170DYLKYDNCNDA1Oryza sativa subsp. japonica
D175DGCYCDSLEN-1Homo sapiens
D175DNCFNEGKSGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D175DNCENTGTS--1Arabidopsis thaliana
D175DNCNDAGRS--1Oryza sativa subsp. japonica
D231WRNFADIDDSW1Homo sapiens
D231WRISGDIFDTF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D231WRTTGDIQDNW1Arabidopsis thaliana
D231WRTTGDIADNW1Oryza sativa subsp. japonica
D255QERIVDVAGPG1Homo sapiens
D255CETIECFALQG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D255NDRWASYARPG1Arabidopsis thaliana
D255NDQWAAYAGPG1Oryza sativa subsp. japonica
D33---ALDNGLAR1Homo sapiens
D33------NGLGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D33SRMLMNNGLAL1Arabidopsis thaliana
D33RRRAFENGLGR1Oryza sativa subsp. japonica
D92EYLCIDDCWMA1Homo sapiens
D92EYIVMDDCWSK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D92KYINIDDCWGE1Arabidopsis thaliana
D92QYVNIDDCWAE1Oryza sativa subsp. japonica
D93YLCIDDCWMAP1Homo sapiens
D93YIVMDDCWSKH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D93YINIDDCWGEL1Arabidopsis thaliana
D93YVNIDDCWAEY1Oryza sativa subsp. japonica
E203VYS-CEW-PLY1Homo sapiens
E203FYSLCQWGEDF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E203FFSLCEWGQED1Arabidopsis thaliana
E203FFSLCEWGKEN1Oryza sativa subsp. japonica
E218KPNYTEIRQYC1Homo sapiens
E218N-------TIA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E218G-------DIG1Arabidopsis thaliana
E218G-------RMG1Oryza sativa subsp. japonica
E251TSFNQERIVDV1Homo sapiens
E251----CETIECF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E251---QNDRWASY1Arabidopsis thaliana
E251---ENDQWAAY1Oryza sativa subsp. japonica
F149-FPGSFGYYDI1Homo sapiens
F149-FPGSLNHEQI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F149TMPGSLGHEEQ1Arabidopsis thaliana
F149KMPGSLDHEEQ1Oryza sativa subsp. japonica
G195ALNRTGRSIVY1Homo sapiens
G195ALNKTGRPIFY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G195ALLNSGRSIFF1Arabidopsis thaliana
G195AMKTYGKNIFF1Oryza sativa subsp. japonica
G35-ALDNGLARTP1Homo sapiens
G35----NGLGLKP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G35MLMNNGLALSP1Arabidopsis thaliana
G35RAFENGLGRTP1Oryza sativa subsp. japonica
K168GVDLLKFDGCY1Homo sapiens
K168GVDYLKYDNCF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K168GIDYLKYDNCE1Arabidopsis thaliana
K168GVDYLKYDNCN1Oryza sativa subsp. japonica
K374L---GKGVACN1Homo sapiens
K374IFVDALGNAEH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K374I-----GLNSS1Arabidopsis thaliana
K374I-----GLAGS1Oryza sativa subsp. japonica
L206CEW-PLYMWPF1Homo sapiens
L206CQWGEDFVWNW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L206CEWGQEDPATW1Arabidopsis thaliana
L206CEWGKENPATW1Oryza sativa subsp. japonica
N139YADVGNKTCAG1Homo sapiens
N139YSSAGKYTCAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N139YSDAGTLTCSQ1Arabidopsis thaliana
N139YSDAGSQTCSN1Oryza sativa subsp. japonica
N179CDSLEN----L1Homo sapiens
N179NEGKSGVPLIS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N179NTGTS-----P1Arabidopsis thaliana
N179DAGRS-----V1Oryza sativa subsp. japonica
N192MSLALNRTGRS1Homo sapiens
N192MSDALNKTGRP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N192MSKALLNSGRS1Arabidopsis thaliana
N192MSNAMKTYGKN1Oryza sativa subsp. japonica
N215TWAG-------2Arabidopsis thaliana, Oryza sativa subsp. japonica
N215PFQKPNYTEIR1Homo sapiens
N215NWGN-------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N34--ALDNGLART1Homo sapiens
N34-----NGLGLK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N34RMLMNNGLALS1Arabidopsis thaliana
N34RRAFENGLGRT1Oryza sativa subsp. japonica
Q221YTEIRQYCNHW1Homo sapiens
Q221-----TIANSW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q221-----DIGNSW1Arabidopsis thaliana
Q221-----RMGNSW1Oryza sativa subsp. japonica
Q250WTSFNQERIVD1Homo sapiens
Q250-----CETIEC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q250----QNDRWAS1Arabidopsis thaliana
Q250----ENDQWAA1Oryza sativa subsp. japonica
Q330GKQGYQLRQGD1Homo sapiens
Q330ALIWKKKYGDE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q330GIQGKKVKKEG1Arabidopsis thaliana
Q330GVQGKKVQSDN1Oryza sativa subsp. japonica
R196LNRTGRSIVYS1Homo sapiens
R196LNKTGRPIFYS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R196LLNSGRSIFFS1Arabidopsis thaliana
R196MKTYGKNIFFS1Oryza sativa subsp. japonica
R227YCNHWRNFADI1Homo sapiens
R227IANSWRISGDI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R227IGNSWRTTGDI1Arabidopsis thaliana
R227MGNSWRTTGDI1Oryza sativa subsp. japonica
R38DNGLARTPTMG1Homo sapiens
R38-NGLGLKPQMG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R38NNGLALSPQMG1Arabidopsis thaliana
R38ENGLGRTPQMG1Oryza sativa subsp. japonica
T217QKPNYTEIRQY1Homo sapiens
T217GN-------TI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T217AG-------DI1Arabidopsis thaliana
T217AG-------RM1Oryza sativa subsp. japonica
V254NQERIVDVAGP1Homo sapiens
V254-CETIECFALQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V254QNDRWASYARP1Arabidopsis thaliana
V254ENDQWAAYAGP1Oryza sativa subsp. japonica
W47MGWLHWERFMC1Homo sapiens
W47MGWNSWNKYAC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W47MGWNSWNHFQC1Arabidopsis thaliana
W47MGWNSWNHFYC1Oryza sativa subsp. japonica
Y134LKLGIYADVGN1Homo sapiens
Y134FKFGMYSSAGK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y134LKLGIYSDAGT1Arabidopsis thaliana
Y134LKLGIYSDAGS1Oryza sativa subsp. japonica
Y151PGSFGYYDIDA1Homo sapiens
Y151PGSLNHEQIDA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y151PGSLGHEEQDA1Arabidopsis thaliana
Y151PGSLDHEEQDV1Oryza sativa subsp. japonica
Y173KFDGCYCDSLE1Homo sapiens
Y173KYDNCFNEGKS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y173KYDNCENTGTS1Arabidopsis thaliana
Y173KYDNCNDAGRS1Oryza sativa subsp. japonica
Y207EW-PLYMWPFQ1Homo sapiens
Y207QWGEDFVWNWG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y207EWGQEDPATWA1Arabidopsis thaliana
Y207EWGKENPATWA1Oryza sativa subsp. japonica
Y329LGKQGYQLRQG1Homo sapiens
Y329AALIWKKKYGD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y329LGIQGKKVKKE1Arabidopsis thaliana
Y329LGVQGKKVQSD1Oryza sativa subsp. japonica


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