mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 GLB1
Gene summary
Basic gene Info.Gene symbolGLB1
Gene namegalactosidase, beta 1
CytomapUCSC genome browser: 3p21.33
Type of geneprotein-coding
Descriptionacid beta-galactosidasebeta-galactosidaseelastin receptor 1, 67kDalactase
Modification date20141219
dbXrefs MIM : 611458
Ensembl : ENSG00000170266
HPRD : 01975
Vega : OTTHUMG00000155781
ProteinUniProt: P16278
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GLB1
BioGPS: 2720
PathwayNCI Pathway Interaction Database: GLB1
Pathway Commons: GLB1
ContextiHOP: GLB1
ligand binding site mutation search in PubMed: GLB1
UCL Cancer Institute: GLB1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

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

Ligand binding site mutations for GLB1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for GLB1
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
(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 GLB1 from PDB

Differential gene expression and gene-gene network for GLB1
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 GLB1 and the right PPI network was created from samples without mutations in the LBS of GLB1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for GLB1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0085131Gangliosidosis, GM166Biomarker, GeneticVariation
umls:C0086652Mucopolysaccharidosis Type IVB26Biomarker, GeneticVariation
umls:C0268271GM1-GANGLIOSIDOSIS, TYPE I7Biomarker, GeneticVariation
umls:C0268272GM1-GANGLIOSIDOSIS, TYPE II3Biomarker, GeneticVariation
umls:C0026707Mucopolysaccharidosis IV3Biomarker
umls:C0268273Adult GM1 gangliosidosis2Biomarker, GeneticVariation
umls:C0005941Bone Diseases, Developmental1Biomarker
umls:C0010038Corneal Opacity1Biomarker
umls:C0011615Dermatitis, Atopic1Biomarker

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

Pharmacological information for GLB1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GLB1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of GLB1
Multiple alignments for P16278 in multiple species
LBSAA sequence# speciesSpecies
A128GPYICAEWDMG3Mus musculus, Bos taurus, Canis lupus familiaris
A128GPYICGEWDLG2Arabidopsis thaliana, Oryza sativa subsp. japonica
A128GPYICAEWEMG1Homo sapiens
C127PGPYICAEWDM3Mus musculus, Bos taurus, Canis lupus familiaris
C127PGPYICAEWEM1Homo sapiens
C127AGPYICGEWDL1Arabidopsis thaliana
C127VGPYICGEWDL1Oryza sativa subsp. japonica
D250GSNITDAFLSQ1Homo sapiens
D250GNNITQAFLVQ1Mus musculus
D250GTNLTAAFMLQ1Bos taurus
D250GANITAAFQIQ1Canis lupus familiaris
D250GDDPWPIFKLQ1Arabidopsis thaliana
D250GSNPWPIFQLQ1Oryza sativa subsp. japonica
E129PYICAEWDMGG3Mus musculus, Bos taurus, Canis lupus familiaris
E129PYICGEWDLGG2Arabidopsis thaliana, Oryza sativa subsp. japonica
E129PYICAEWEMGG1Homo sapiens
E188VQVENEYGSYF2Homo sapiens, Mus musculus
E188VQVENEYGSYL1Bos taurus
E188MQVENEYGSYF1Canis lupus familiaris
E188VQIENEYGSY-1Arabidopsis thaliana
E188VQIENEFGSF-1Oryza sativa subsp. japonica
E268PLINSEFYTGW2Homo sapiens, Mus musculus
E268PLVNSEFYTGW2Bos taurus, Canis lupus familiaris
E268PPLSSEFYTGW1Arabidopsis thaliana
E268APLSSEFYTGW1Oryza sativa subsp. japonica
H276TGWLDHWGQPH2Homo sapiens, Canis lupus familiaris
H276TGWLDHWGKPH1Mus musculus
H276TGWLDHWGQRH1Bos taurus
H276TGWLTHWGEKI1Arabidopsis thaliana
H276TGWLTHWGERI1Oryza sativa subsp. japonica
H523AVR-SHLGGWG1Homo sapiens
H523MVR-NHLWGRE1Mus musculus
H523AVR-SHLGTWG1Bos taurus
H523AVR-SHLGGWH1Canis lupus familiaris
H523LNQEPNLTFEM1Arabidopsis thaliana
H523VGNLSKLQLIM1Oryza sativa subsp. japonica
I126RPGPYICAEWD3Mus musculus, Bos taurus, Canis lupus familiaris
I126RPGPYICAEWE1Homo sapiens
I126RAGPYICGEWD1Arabidopsis thaliana
I126RVGPYICGEWD1Oryza sativa subsp. japonica
I505TLSSNILTDWT1Homo sapiens
I505TINSTVLTNWT1Mus musculus
I505TLGSKILTNWE1Bos taurus
I505TLGSSILTNWM1Canis lupus familiaris
I505YLDGQILHGWK1Arabidopsis thaliana
I505EIDGIILRHWK1Oryza sativa subsp. japonica
L274FYTGWLDHWGQ3Homo sapiens, Bos taurus, Canis lupus familiaris
L274FYTGWLTHWGE2Arabidopsis thaliana, Oryza sativa subsp. japonica
L274FYTGWLDHWGK1Mus musculus
M553-PAFYMGNFSI2Homo sapiens, Canis lupus familiaris
M553-PTFYVGNFSI1Mus musculus
M553-PTFYVGNFTI1Bos taurus
M553-PALFAGEFSI1Arabidopsis thaliana
M553EPAFYEGHFHI1Oryza sativa subsp. japonica
N187TVQVENEYGSY3Homo sapiens, Mus musculus, Bos taurus
N187TMQVENEYGSY1Canis lupus familiaris
N187MVQIENEYGSY1Arabidopsis thaliana
N187MVQIENEFGSF1Oryza sativa subsp. japonica
N247FGTGSNITDAF1Homo sapiens
N247FGTGNNITQAF1Mus musculus
N247FSPGTNLTAAF1Bos taurus
N247FGPGANITAAF1Canis lupus familiaris
N247FSTGDDPWPIF1Arabidopsis thaliana
N247FDTGSNPWPIF1Oryza sativa subsp. japonica
N321YWNGANS----1Homo sapiens
N321YWNGANT----1Mus musculus
N321YWNGANI----1Bos taurus
N321YWNGANM----1Canis lupus familiaris
N321FYNGANTGSEE1Arabidopsis thaliana
N321FYNGANTGQNE1Oryza sativa subsp. japonica
N498KGLVSNLTLSS1Homo sapiens
N498KGLISNMTINS1Mus musculus
N498KGLVSNLTLGS1Bos taurus
N498KGLISNLTLGS1Canis lupus familiaris
N498KGILSSVYLDG1Arabidopsis thaliana
N498KGILSSVEIDG1Oryza sativa subsp. japonica
N555AFYMGNFSIPS2Homo sapiens, Canis lupus familiaris
N555TFYVGNFSIPS1Mus musculus
N555TFYVGNFTIPS1Bos taurus
N555ALFAGEFSINS1Arabidopsis thaliana
N555AFYEGHFHIDS1Oryza sativa subsp. japonica
P613LMTSAPNTITV1Homo sapiens
P613LTTSAPNNITV1Mus musculus
P613LVTSTPNTIVV1Bos taurus
P613LVTSTPNTIMV1Canis lupus familiaris
P613L-KRGKNTLVV1Arabidopsis thaliana
P613L-KPGDNVIVI1Oryza sativa subsp. japonica
S497FKGLVSNLTLS1Homo sapiens
S497FKGLISNMTIN1Mus musculus
S497FKGLVSNLTLG1Bos taurus
S497FKGLISNLTLG1Canis lupus familiaris
S497DKGILSSVYLD1Arabidopsis thaliana
S497QKGILSSVEID1Oryza sativa subsp. japonica
T249TGSNITDAFLS1Homo sapiens
T249TGNNITQAFLV1Mus musculus
T249PGTNLTAAFML1Bos taurus
T249PGANITAAFQI1Canis lupus familiaris
T249TGDDPWPIFKL1Arabidopsis thaliana
T249TGSNPWPIFQL1Oryza sativa subsp. japonica
T615TSAPNTITVLE1Homo sapiens
T615TSAPNNITVLE1Mus musculus
T615TSTPNTIVVLE1Bos taurus
T615TSTPNTIMVLE1Canis lupus familiaris
T615KRGKNTLVVFE1Arabidopsis thaliana
T615KPGDNVIVIFE1Oryza sativa subsp. japonica
W273EFYTGWLDHWG4Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris
W273EFYTGWLTHWG2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y270INSEFYTGWLD2Homo sapiens, Mus musculus
Y270VNSEFYTGWLD2Bos taurus, Canis lupus familiaris
Y270LSSEFYTGWLT2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y306ANVNLYMFIGG2Mus musculus, Canis lupus familiaris
Y306ASVNLYMFIGG1Homo sapiens
Y306ANVNMYMFIGG1Bos taurus
Y306GSAVLYMVHGG1Arabidopsis thaliana
Y306GSAVLYMAHGG1Oryza sativa subsp. japonica
Y333PTSYDYDAPLS4Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris
Y333LTSYDYDAPIK1Arabidopsis thaliana
Y333LTSYDYDAPIR1Oryza sativa subsp. japonica
Y402PIKSLYPLTFI1Homo sapiens
Y402PVKSLYPLTFT1Mus musculus
Y402PIKSVYPLTFI1Bos taurus
Y402PINSLYPLTFI1Canis lupus familiaris
Y402VITSANPISME1Arabidopsis thaliana
Y402VAFSEQPLSME1Oryza sativa subsp. japonica
Y485MGRVNYGPYIF2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y485MGRVNYGAYIN1Homo sapiens
Y485MGRVNYGRFIN1Mus musculus
Y485MGRVNYGSSIN1Bos taurus
Y485MGRVNYGRYIN1Canis lupus familiaris
Y83NAIQTYVPWNF2Homo sapiens, Canis lupus familiaris
Y83NAIQMYVPWNF1Mus musculus
Y83NTIQVYVPWNL1Arabidopsis thaliana
Y83NTIQTYVPWNL1Oryza sativa subsp. japonica

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas