mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

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 B3GAT3
Gene summary
Basic gene Info.Gene symbolB3GAT3
Gene namebeta-1,3-glucuronyltransferase 3
SynonymsGLCATI|glcUAT-I
CytomapUCSC genome browser: 11q12.3
Type of geneprotein-coding
RefGenesNM_001288721.1,
NM_001288722.1,NM_001288723.1,NM_012200.3,NR_109991.1,
DescriptionSqv-8-like proteinUDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferasebeta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
Modification date20141207
dbXrefs MIM : 606374
HGNC : HGNC
Ensembl : ENSG00000149541
HPRD : 07564
Vega : OTTHUMG00000167685
ProteinUniProt: O94766
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_B3GAT3
BioGPS: 26229
PathwayNCI Pathway Interaction Database: B3GAT3
KEGG: B3GAT3
REACTOME: B3GAT3
Pathway Commons: B3GAT3
ContextiHOP: B3GAT3
ligand binding site mutation search in PubMed: B3GAT3
UCL Cancer Institute: B3GAT3
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:0006024glycosaminoglycan biosynthetic process24425863
GO:0015012heparan sulfate proteoglycan biosynthetic process21763480
GO:0043085positive regulation of catalytic activity24425863
GO:0050650chondroitin sulfate proteoglycan biosynthetic process21763480
GO:0050651dermatan sulfate proteoglycan biosynthetic process21763480


Top
Ligand binding site mutations for B3GAT3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R310R310WBRCA1
R161R161QHNSC1
P155H154YHNSC1
R277R277LLUAD1
R161N162KOV1
R277R277WSKCM1
D252P250LSKCM1
P155H154YSKCM1
R310,H308T309ISKCM1
N197T198AUCEC1
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.


Top
Protein structure related information for B3GAT3
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
R277R277L0.13281501
N197T198A-1.4707274
R161R161Q-1.2378287
D252P250L-0.55739909
R161N162K-0.52712013
H308T309I-0.51279888
R310T309I-0.51279888
P155H154Y-0.2534847
R310R310W-0.23195051
R277R277W-0.12435782
(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 B3GAT3 from PDB

Top
Differential gene expression and gene-gene network for B3GAT3
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 B3GAT3 and the right PPI network was created from samples without mutations in the LBS of B3GAT3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for B3GAT3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C3278404MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS1GeneticVariation
umls:C0376634Craniofacial Abnormalities1Biomarker

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

Top
Pharmacological information for B3GAT3
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
ExperimentalDB03041UDP-alpha-D-glucuronic acidSmall molecule
ExperimentalDB03435Uridine-5'-DiphosphateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of B3GAT3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GALBETA-D-GALACTOSE1fggAD252
GALBETA-D-GALACTOSE3cu0AD252
GALBETA-D-GALACTOSE3cu0BD252
UDPURIDINE-DIPHOSPHATE1fggAH308 R310
UDPURIDINE-DIPHOSPHATE1fggBH308 R310
UDPURIDINE-DIPHOSPHATE3cu0AH308 R310
MNMANGANESE(2+)3cu0BH308 R310
MNMANGANESE(2+)1kwsAN197 H308 R310
MNMANGANESE(2+)1kwsBN197 R310
UDPURIDINE-DIPHOSPHATE3cu0BP155 H308 R310
UGAUDP-ALPHA-D-GLUCURONIC ACID1kwsAP155 R161 D252 H308 R310
UGAUDP-ALPHA-D-GLUCURONIC ACID1kwsBP155 R161 D252 H308 R310
GALBETA-D-GALACTOSE3cu0AR277
GALBETA-D-GALACTOSE3cu0BR277
MNMANGANESE(2+)1fggAR310
MNMANGANESE(2+)1fggBR310
MNMANGANESE(2+)3cu0AR310


Top
Conservation information for LBS of B3GAT3
Multiple alignments for O94766 in multiple species
LBSAA sequence# speciesSpecies
D113WLLVEDAEGPT1Homo sapiens
D113WIVVEDSDELT1Caenorhabditis elegans
D113WIIVEDTNATT1Drosophila melanogaster
D113WLLVEDAESPT1Mus musculus
D194VVYFADDDNTY2Homo sapiens, Mus musculus
D194VVYFGDDDNTY1Caenorhabditis elegans
D194IVFFMDDDNSY1Drosophila melanogaster
D195VYFADDDNTYS2Homo sapiens, Mus musculus
D195VYFGDDDNTYD1Caenorhabditis elegans
D195VFFMDDDNSYS1Drosophila melanogaster
D196YFADDDNTYSR2Homo sapiens, Mus musculus
D196YFGDDDNTYDL1Caenorhabditis elegans
D196FFMDDDNSYST1Drosophila melanogaster
D252RPFPIDMAAFA2Caenorhabditis elegans, Drosophila melanogaster
D252RPFPVDMAGFA1Homo sapiens
D252RPFPLDMAGFA1Mus musculus
E227GGLRFEGPQV-2Homo sapiens, Mus musculus
E227GGMFVETPILE1Caenorhabditis elegans
E227GGLMVERPLLT1Drosophila melanogaster
E281PRGHLESSLLS2Homo sapiens, Mus musculus
E281PRGYQESTFLE1Caenorhabditis elegans
E281QRGYQESEILR1Drosophila melanogaster
G157WVHPRGVEQRN1Homo sapiens
G157WTLPRGVEQRN1Caenorhabditis elegans
G157WIKPRGVEQRN1Drosophila melanogaster
G157WVRPRGVEQRN1Mus musculus
G222PVGLVGGLRFE2Homo sapiens, Mus musculus
G222PVGIVGGMFVE1Caenorhabditis elegans
G222PVGLVGGLMVE1Drosophila melanogaster
H308RVLVWHTRTEK1Homo sapiens
H308KVYVWHTRTEK1Caenorhabditis elegans
H308DVLVWHTRTEK1Drosophila melanogaster
H308QVLVWHTRTEK1Mus musculus
M253PFPVDMAGFAV1Homo sapiens
M253PFPIDMAAFAV1Caenorhabditis elegans
M253PFPIDMAAFAI1Drosophila melanogaster
M253PFPLDMAGFAV1Mus musculus
N197FADDDNTYSRE2Homo sapiens, Mus musculus
N197FGDDDNTYDLK1Caenorhabditis elegans
N197FMDDDNSYSTE1Drosophila melanogaster
P155PGWVHPRGVEQ1Homo sapiens
P155PNWTLPRGVEQ1Caenorhabditis elegans
P155PNWIKPRGVEQ1Drosophila melanogaster
P155PGWVRPRGVEQ1Mus musculus
P82IYVVTPTYARL1Homo sapiens
P82IYFITPTHFRA1Caenorhabditis elegans
P82IYAVTPTYPRP1Drosophila melanogaster
P82IYVITPTYARL1Mus musculus
R156GWVHPRGVEQR1Homo sapiens
R156NWTLPRGVEQR1Caenorhabditis elegans
R156NWIKPRGVEQR1Drosophila melanogaster
R156GWVRPRGVEQR1Mus musculus
R161RGVEQRNKALD2Homo sapiens, Mus musculus
R161RGVEQRNRALL1Caenorhabditis elegans
R161RGVEQRNLALA1Drosophila melanogaster
R247AWEPSRPFPVD1Homo sapiens
R247VWKPERPFPID1Caenorhabditis elegans
R247AWRPERPFPID1Drosophila melanogaster
R247AWEPNRPFPLD1Mus musculus
R277DSTAPRGHLES1Homo sapiens
R277SFDVPRGYQES1Caenorhabditis elegans
R277SYEVQRGYQES1Drosophila melanogaster
R277DATAPRGHLES1Mus musculus
R310LVWHTRTEKPK2Homo sapiens, Mus musculus
R310YVWHTRTEKPK1Caenorhabditis elegans
R310LVWHTRTEKTK1Drosophila melanogaster
T83YVVTPTYARLV1Homo sapiens
T83YFITPTHFRAA1Caenorhabditis elegans
T83YAVTPTYPRPA1Drosophila melanogaster
T83YVITPTYARLV1Mus musculus
V221WPVGLVGGLRF2Homo sapiens, Mus musculus
V221WPVGIVGGMFV1Caenorhabditis elegans
V221WPVGLVGGLMV1Drosophila melanogaster
W243GFHTAWEPSRP1Homo sapiens
W243HFNAVWKPERP1Caenorhabditis elegans
W243GFNAAWRPERP1Drosophila melanogaster
W243GFHTAWEPNRP1Mus musculus
Y84VVTPTYARLVQ1Homo sapiens
Y84FITPTHFRAAQ1Caenorhabditis elegans
Y84AVTPTYPRPAQ1Drosophila melanogaster
Y84VITPTYARLVQ1Mus musculus


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