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 UXS1
Gene summary
Basic gene Info.Gene symbolUXS1
Gene nameUDP-glucuronate decarboxylase 1
SynonymsSDR6E1|UGD
CytomapUCSC genome browser: 2q12.2
Type of geneprotein-coding
RefGenesNM_001253875.1,
NM_001253876.1,NM_025076.4,NR_045607.1,
DescriptionUDP-glucuronic acid decarboxylase 1UXS-1short chain dehydrogenase/reductase family 6E, member 12
Modification date20141209
dbXrefs MIM : 609749
HGNC : HGNC
Ensembl : ENSG00000115652
HPRD : 15642
Vega : OTTHUMG00000153150
ProteinUniProt: Q8NBZ7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_UXS1
BioGPS: 80146
PathwayNCI Pathway Interaction Database: UXS1
KEGG: UXS1
REACTOME: UXS1
Pathway Commons: UXS1
ContextiHOP: UXS1
ligand binding site mutation search in PubMed: UXS1
UCL Cancer Institute: UXS1
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:0051262protein tetramerization23656592


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Ligand binding site mutations for UXS1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
V100V100LOV2
E249V251MCOAD1
H267R265HCOAD1
D119V117MCOAD1
T123T123MCOAD1
H267M268TKIRC1
G188G188WKIRC1
R228R228LLUAD1
I331H329PLUAD1
V100S102CLUSC1
Y231Y231CSKCM1
N171,I173P172SSKCM1
Y245M246TUCEC1
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 UXS1
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
V100V100L0.34097301
I173P172S-1.1473945
N171P172S-1.1473945
Y245M246T-0.91212732
H267M268T-0.84685573
E249V251M-0.78589128
H267R265H-0.72768213
D119V117M-0.67641609
Y231Y231C-0.63031274
V100S102C-0.38708582
G188G188W-0.38276614
I331H329P-0.28816995
T123T123M-0.16353826
R228R228L-0.053149871
(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 UXS1 from PDB
PDB IDPDB titlePDB structure
2B69Crystal Structure of Human UDP-glucoronic acid decarboxylase

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Differential gene expression and gene-gene network for UXS1
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 UXS1 and the right PPI network was created from samples without mutations in the LBS of UXS1. 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 UXS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0376634Craniofacial Abnormalities1Biomarker

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

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Pharmacological information for UXS1
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 UXS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
POPDIPHOSPHATE(2-)4m55AG188 Y245
UDPURIDINE-DIPHOSPHATE4m55BG188 Y245
POPDIPHOSPHATE(2-)4m55CG188 Y245
UDPURIDINE-DIPHOSPHATE4m55DG188 Y245
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3AG188 Y245 E249
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3BG188 Y245 E249
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3CG188 Y245 E249
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3DG188 Y245 E249
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3EG188 Y245 E249
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3FG188 Y245 E249
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3DI173
UDPURIDINE-DIPHOSPHATE4lk3AI331
UDPURIDINE-DIPHOSPHATE4lk3BI331
UDPURIDINE-DIPHOSPHATE4lk3DI331
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3BN171 I173
UGAUDP-ALPHA-D-GLUCURONIC ACID4lk3CN171 I173
NADNAD ZWITTERION4m55EV100 D119 T123
NADNAD ZWITTERION4lk3AV100 D119 T123 H267
NADNAD ZWITTERION4lk3BV100 D119 T123 H267
NADNAD ZWITTERION4lk3CV100 D119 T123 H267
NADNAD ZWITTERION4lk3DV100 D119 T123 H267
NADNAD ZWITTERION4lk3EV100 D119 T123 H267
NADNAD ZWITTERION4lk3FV100 D119 T123 H267
NADNAD ZWITTERION4m55AV100 D119 T123 H267
NADNAD ZWITTERION4m55BV100 D119 T123 H267
NADNAD ZWITTERION4m55CV100 D119 T123 H267
NADNAD ZWITTERION4m55DV100 D119 T123 H267
NADNAD ZWITTERION4m55FV100 D119 T123 H267
NADNAD ZWITTERION4gllAV100 D119 T123 Y231 H267
NADNAD ZWITTERION4gllBV100 D119 T123 Y231 H267


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Conservation information for LBS of UXS1
Multiple alignments for Q8NBZ7 in multiple species
LBSAA sequence# speciesSpecies
A160QIYHLASPASP4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
A160QIYHLACPASP2Arabidopsis thaliana, Arabidopsis thaliana
A160RIYHLACPASP1Arabidopsis thaliana
A163HLASPASPPNY4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
A163HLACPASPIFY3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
A200ARLLLASTSEV4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
A200ARILLTSTSEV3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
A97LITGGAGFVGS4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
A97LISGGAGFIGS2Arabidopsis thaliana, Arabidopsis thaliana
A97LVTGGAGFIGS1Arabidopsis thaliana
D119EVTVVDNFFTG4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
D119EVIVADNYFTG2Arabidopsis thaliana, Arabidopsis thaliana
D119EVVVADNYFTG1Arabidopsis thaliana
D144ELINHDVVEPL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
D144ELIRHDVTEPL3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D357SEAQDDPQKRK3Homo sapiens, Mus musculus, Rattus norvegicus
D357ENTPDDPRQRK3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D357SEAQDDPQRRK1Xenopus tropicalis
E249AYMKQEGVEVR4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
E249DYHRQHGIEIR3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
F121TVVDNFFTGRK4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
F121IVADNYFTGSK2Arabidopsis thaliana, Arabidopsis thaliana
F121VVADNYFTGSK1Arabidopsis thaliana
F122VVDNFFTGRKR4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
F122VADNYFTGSKD2Arabidopsis thaliana, Arabidopsis thaliana
F122VADNYFTGSKE1Arabidopsis thaliana
F259RVARIFNTFGP4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
F259RIARIFNTYGP3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
F277RVVSNFILQAL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
F277RVVSNFIAQAL3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
F299SQTRAFQYVSD3Homo sapiens, Mus musculus, Rattus norvegicus
F299TQTRSFCYVSD3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
F299EQTRAFQYVSD1Xenopus tropicalis
F99TGGAGFVGSHL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
F99SGGAGFIGSHL2Arabidopsis thaliana, Arabidopsis thaliana
F99TGGAGFIGSHL1Arabidopsis thaliana
G124DNFFTGRKRNV4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
G124DNYFTGSKDNL2Arabidopsis thaliana, Arabidopsis thaliana
G124DNYFTGSKENL1Arabidopsis thaliana
G188TLNMLGLAKRV7Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Xenopus tropicalis, Mus musculus, Rattus norvegicus
G95RILITGGAGFV4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
G95RILISGGAGFI2Arabidopsis thaliana, Arabidopsis thaliana
G95RILVTGGAGFI1Arabidopsis thaliana
G98ITGGAGFVGSH4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
G98ISGGAGFIGSH2Arabidopsis thaliana, Arabidopsis thaliana
G98VTGGAGFIGSH1Arabidopsis thaliana
H143FELINHDVVEP4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
H143FELIRHDVTEP3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
H267FGPRMHMNDGR4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
H267YGPRMNIDDGR3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
I173YMYNPIKTLKT4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
I173YKYNPVKTIKT3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
I258VRVARIFNTFG4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
I258IRIARIFNTYG3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
I331PEEHTILEFAQ3Homo sapiens, Mus musculus, Rattus norvegicus
I331PGEFTMVELAE3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
I331PQEHSIVQFAR1Xenopus tropicalis
K174MYNPIKTLKTN4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
K174KYNPVKTIKTN3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
K177PIKTLKTNTIG4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
K177PVKTIKTNVIG3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
K191MLGLAKRVGAR7Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Xenopus tropicalis, Mus musculus, Rattus norvegicus
K235CYDEGKRVAET7Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Xenopus tropicalis, Mus musculus, Rattus norvegicus
L149DVVEPLYIEVD4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
L149DVTEPLLIEVD2Arabidopsis thaliana, Arabidopsis thaliana
L149DVTEPLFVEVD1Arabidopsis thaliana
L159DQIYHLASPAS4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
L159DQIYHLACPAS2Arabidopsis thaliana, Arabidopsis thaliana
L159DRIYHLACPAS1Arabidopsis thaliana
L184NTIGTLNMLGL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
L184NVIGTLNMLGL3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
L189LNMLGLAKRVG7Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N120VTVVDNFFTGR4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N120VIVADNYFTGS2Arabidopsis thaliana, Arabidopsis thaliana
N120VVVADNYFTGS1Arabidopsis thaliana
N171PNYMYNPIKTL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N171IFYKYNPVKTI3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
N185TIGTLNMLGLA4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N185VIGTLNMLGLA3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
N260VARIFNTFGPR4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N260IARIFNTYGPR3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
N276GRVVSNFILQA4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N276GRVVSNFIAQA3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
P148HDVVEPLYIEV4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
P148HDVTEPLLIEV2Arabidopsis thaliana, Arabidopsis thaliana
P148HDVTEPLFVEV1Arabidopsis thaliana
P165ASPASPPNYMY4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
P165ACPASPIFYKY3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
Q248YAYMKQEGVEV4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Q248FDYHRQHGIEI3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
Q295YGSGSQTRAFQ3Homo sapiens, Mus musculus, Rattus norvegicus
Q295QKPGTQTRSFC3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
Q295YGSGEQTRAFQ1Xenopus tropicalis
R192LGLAKRVGARL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
R192LGLAKRVGARI3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
R228NPIGPRACYDE4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
R228NPIGVRSCYDE3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
R272HMNDGRVVSNF4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
R272NIDDGRVVSNF3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
R297SGSQTRAFQYV3Homo sapiens, Mus musculus, Rattus norvegicus
R297PGTQTRSFCYV3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
R297SGEQTRAFQYV1Xenopus tropicalis
R361DDPQKRKPDIK3Homo sapiens, Mus musculus, Rattus norvegicus
R361DDPRQRKPDIS2Arabidopsis thaliana, Arabidopsis thaliana
R361DDPRQRKPDIT1Arabidopsis thaliana
R361DDPQRRKPDIR1Xenopus tropicalis
S161IYHLASPASPP4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
S161IYHLACPASPI3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
S201RLLLASTSEVY4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
S201RILLTSTSEVY3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T123VDNFFTGRKRN4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
T123ADNYFTGSKDN2Arabidopsis thaliana, Arabidopsis thaliana
T123ADNYFTGSKEN1Arabidopsis thaliana
T178IKTLKTNTIGT4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
T178VKTIKTNVIGT3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T202LLLASTSEVYG4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
T202ILLTSTSEVYG3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T261ARIFNTFGPRM4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
T261ARIFNTYGPRM3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T288QGEPLTVYGSG3Homo sapiens, Mus musculus, Rattus norvegicus
T288RGEALTVQKPG3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T288QGEQLTVYGSG1Xenopus tropicalis
V100GGAGFVGSHLT4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
V100GGAGFIGSHLV3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
V145LINHDVVEPLY4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
V145LIRHDVTEPLL2Arabidopsis thaliana, Arabidopsis thaliana
V145LIRHDVTEPLF1Arabidopsis thaliana
V273MNDGRVVSNFI4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
V273IDDGRVVSNFI3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
V289GEPLTVYGSGS3Homo sapiens, Mus musculus, Rattus norvegicus
V289GEALTVQKPGT3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
V289GEQLTVYGSGE1Xenopus tropicalis
Y150VVEPLYIEVDQ4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Y150VTEPLFVEVDQ1Arabidopsis thaliana
Y150VTEPLLIEVDQ1Arabidopsis thaliana
Y150VTEPLLIEVDR1Arabidopsis thaliana
Y231GPRACYDEGKR4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Y231GVRSCYDEGKR3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
Y245TMCYAYMKQEG4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
Y245TLMFDYHRQHG3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
Y290EPLTVYGSGSQ3Homo sapiens, Mus musculus, Rattus norvegicus
Y290EALTVQKPGTQ3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
Y290EQLTVYGSGEQ1Xenopus tropicalis


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