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 HAO1
Gene summary
Basic gene Info.Gene symbolHAO1
Gene namehydroxyacid oxidase (glycolate oxidase) 1
SynonymsGOX|GOX1|HAOX1
CytomapUCSC genome browser: 20p12
Type of geneprotein-coding
RefGenesNM_017545.2,
Description(S)-2-hydroxy-acid oxidaseglycolate oxidasehydroxyacid oxidase 1
Modification date20141207
dbXrefs MIM : 605023
HGNC : HGNC
Ensembl : ENSG00000101323
HPRD : 05429
Vega : OTTHUMG00000031841
ProteinUniProt: Q9UJM8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HAO1
BioGPS: 54363
PathwayNCI Pathway Interaction Database: HAO1
KEGG: HAO1
REACTOME: HAO1
Pathway Commons: HAO1
ContextiHOP: HAO1
ligand binding site mutation search in PubMed: HAO1
UCL Cancer Institute: HAO1
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:0001561fatty acid alpha-oxidation18215067
GO:0046296glycolate catabolic process18215067


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Ligand binding site mutations for HAO1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R315I317MBRCA1
Y27R28GHNSC1
K236A235THNSC1
Y208Y208FLUAD1
Y208A207TLUSC1
V209K211ELUSC1
K236A235VSTAD1
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 HAO1
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
K236A235T-1.337125
Y208A207T-1.293794
Y27R28G-1.086591
K236A235V-0.98638537
R315I317M-0.97939784
V209K211E-0.48573296
Y208Y208F-0.45913678
(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 HAO1 from PDB

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Differential gene expression and gene-gene network for HAO1
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 HAO1 and the right PPI network was created from samples without mutations in the LBS of HAO1. 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 HAO1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033578Prostatic Neoplasms1Biomarker

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

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Pharmacological information for HAO1
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
ExperimentalDB02164N-Sulfo-Flavin MononucleotideSmall molecule
ExperimentalDB02279Benzoylformic AcidSmall molecule
ExperimentalDB030643-Decyl-2,5-Dioxo-4-Hydroxy-3-PyrrolineSmall molecule
ExperimentalDB03247Riboflavin MonophosphateSmall molecule
ExperimentalDB038843-Phenylpyruvic AcidSmall molecule
ExperimentalDB043744-Carboxy-5-(1-Pentyl)Hexylsulfanyl-1,2,3-TriazoleSmall molecule
ExperimentalDB069795-(dodecylthio)-1H-1,2,3-triazole-4-carboxylic acidSmall molecule
ExperimentalDB070603-(INDOL-3-YL) LACTATESmall molecule
ExperimentalDB07907(2S)-2-HYDROXYOCTANOIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HAO1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
C7C5-[(4-CHLOROPHENYL)SULFANYL]-1,2,3-THIADIAZOLE-4-CARBOXYLATE2w0uBY208
C7C5-[(4-CHLOROPHENYL)SULFANYL]-1,2,3-THIADIAZOLE-4-CARBOXYLATE2w0uDY208
C7C5-[(4-CHLOROPHENYL)SULFANYL]-1,2,3-THIADIAZOLE-4-CARBOXYLATE2w0uAY208 V209
C7C5-[(4-CHLOROPHENYL)SULFANYL]-1,2,3-THIADIAZOLE-4-CARBOXYLATE2w0uCY208 V209
FMNFLAVIN MONONUCLEOTIDE2nzlAY27 K236 R315
FMNFLAVIN MONONUCLEOTIDE2rdtAY27 K236 R315
FMNFLAVIN MONONUCLEOTIDE2rduAY27 K236 R315
FMNFLAVIN MONONUCLEOTIDE2rdwAY27 K236 R315
FMNFLAVIN MONONUCLEOTIDE2w0uAY27 K236 R315
FMNFLAVIN MONONUCLEOTIDE2w0uBY27 K236 R315
FMNFLAVIN MONONUCLEOTIDE2w0uCY27 K236 R315
FMNFLAVIN MONONUCLEOTIDE2w0uDY27 K236 R315


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Conservation information for LBS of HAO1
Multiple alignments for Q9UJM8 in multiple species
LBSAA sequence# speciesSpecies
A111TLSSWATSSVE3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
A111MLSSWATSSIE2Homo sapiens, Mus musculus
A111TLSSWATCSVE1Arabidopsis thaliana
A79PIMIAPSAMQK2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
A79PICVGATAMQR1Homo sapiens
A79PICVGATAMQC1Mus musculus
A79PIMIAPTAMQK1Arabidopsis thaliana
A79PIMVAPTAMQK1Arabidopsis thaliana
A81MIAPSAMQKMA2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
A81CVGATAMQRMA1Homo sapiens
A81CVGATAMQCMA1Mus musculus
A81MIAPTAMQKMA1Arabidopsis thaliana
A81MVAPTAMQKMA1Arabidopsis thaliana
D291VEVFLDGGVRK2Homo sapiens, Mus musculus
D291IPVFLDGGVRR2Arabidopsis thaliana, Arabidopsis thaliana
D291LPVFLDGGVRR1Oryza sativa subsp. japonica
D291IPVYLDGGVRR1Oryza sativa subsp. japonica
G261IVSNHGARQLD4Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
G261LVSNHGARQLD2Homo sapiens, Mus musculus
G292PVFLDGGVRRG3Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica
G292EVFLDGGVRKG2Homo sapiens, Mus musculus
G292PVYLDGGVRRG1Oryza sativa subsp. japonica
G293VFLDGGVRRGT3Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica
G293VFLDGGVRKGT2Homo sapiens, Mus musculus
G293VYLDGGVRRGT1Oryza sativa subsp. japonica
G314AGVFIGRPVVF2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
G314KAVFVGRPIVW1Homo sapiens
G314KAVFVGRPIIW1Mus musculus
G314SGVFVGRPSLF1Arabidopsis thaliana
G314SGIFIGRPVVF1Arabidopsis thaliana
H260IIVSNHGARQL4Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
H260ILVSNHGARQL2Homo sapiens, Mus musculus
K236LPILVKGVITA3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
K236LPIVAKGILRG1Homo sapiens
K236LPIVVKGILRG1Mus musculus
K236LPILVKGVLTG1Arabidopsis thaliana
L164VDTPRLGRRES2Arabidopsis thaliana, Arabidopsis thaliana
L164VDTPRLGRREA2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
L164VDTPYLGNRLD1Homo sapiens
L164VDTPYLGNRID1Mus musculus
L205GDDSGLAAYVA1Homo sapiens
L205GDNSGLAEYVA1Mus musculus
L205TNDSGLASYVA1Arabidopsis thaliana
L205ANDSGLASYVA1Arabidopsis thaliana
L205ASDSGLASYVA1Oryza sativa subsp. japonica
L205SNDSGLASYVA1Oryza sativa subsp. japonica
M82IAPSAMQKMAH2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
M82VGATAMQRMAH1Homo sapiens
M82VGATAMQCMAH1Mus musculus
M82IAPTAMQKMAH1Arabidopsis thaliana
M82VAPTAMQKMAH1Arabidopsis thaliana
Q130GIRFFQLYVYK4Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Q130ALRWLQLYIYK1Homo sapiens
Q130ALRWMQLYIYK1Mus musculus
R167PRLGRRESDIK2Arabidopsis thaliana, Arabidopsis thaliana
R167PRLGRREADIK2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
R167PYLGNRLDDVR1Homo sapiens
R167PYLGNRIDDVR1Mus musculus
R263SNHGARQLDYV4Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
R263SNHGARQLDGV2Homo sapiens, Mus musculus
R295LDGGVRRGTDV4Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
R295LDGGVRKGTDV2Homo sapiens, Mus musculus
R315AVFVGRPIVWG1Homo sapiens
R315AVFVGRPIIWG1Mus musculus
R315GVFVGRPSLFS1Arabidopsis thaliana
R315GIFIGRPVVFS1Arabidopsis thaliana
R315GVFIGRPVVFS1Oryza sativa subsp. japonica
R315GVFIGRPVVFA1Oryza sativa subsp. japonica
S108TIMTLSSWATS3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
S108TGMMLSSWATS2Homo sapiens, Mus musculus
S108TIMTLSSWATC1Arabidopsis thaliana
S109IMTLSSWATSS3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
S109GMMLSSWATSS2Homo sapiens, Mus musculus
S109IMTLSSWATCS1Arabidopsis thaliana
S258AGIIVSNHGAR4Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
S258NGILVSNHGAR1Homo sapiens
S258DGILVSNHGAR1Mus musculus
T112LSSWATSSVEE3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
T112LSSWATSSIEE2Homo sapiens, Mus musculus
T112LSSWATCSVEE1Arabidopsis thaliana
T158KAIALTVDTPR4Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
T158KAIFVTVDTPY2Homo sapiens, Mus musculus
T80IMIAPSAMQKM2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
T80ICVGATAMQRM1Homo sapiens
T80ICVGATAMQCM1Mus musculus
T80IMIAPTAMQKM1Arabidopsis thaliana
T80IMVAPTAMQKM1Arabidopsis thaliana
V209GLASYVAGQID3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
V209GLAAYVAKAID1Homo sapiens
V209GLAEYVAQAID1Mus musculus
V209GLASYVAGQVD1Arabidopsis thaliana
W110MTLSSWATSSV3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
W110MMLSSWATSSI2Homo sapiens, Mus musculus
W110MTLSSWATCSV1Arabidopsis thaliana
Y132RFFQLYVYKDR3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Y132RWLQLYIYKDR1Homo sapiens
Y132RWMQLYIYKDR1Mus musculus
Y132RFFQLYVYKNR1Arabidopsis thaliana
Y208SGLASYVAGQI3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Y208SGLAAYVAKAI1Homo sapiens
Y208SGLAEYVAQAI1Mus musculus
Y208SGLASYVAGQV1Arabidopsis thaliana
Y26KMVYDYYASGA2Arabidopsis thaliana, Arabidopsis thaliana
Y26KMIYDYYASGA2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Y26KSIYDYYRSGA1Homo sapiens
Y26KSVYDYYRSGA1Mus musculus
Y27MVYDYYASGAE2Arabidopsis thaliana, Arabidopsis thaliana
Y27MIYDYYASGAE2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Y27SIYDYYRSGAN1Homo sapiens
Y27SVYDYYRSGAN1Mus musculus


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