mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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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 GLS
Gene summary
Basic gene Info.Gene symbolGLS
Gene nameglutaminase
SynonymsAAD20|GAC|GAM|GLS1|KGA
CytomapUCSC genome browser: 2q32-q34
Type of geneprotein-coding
RefGenesNM_001256310.1,
NM_014905.4,
DescriptionK-glutaminaseL-glutamine amidohydrolaseglutaminase Cglutaminase kidney isoform, mitochondrialglutaminase, phosphate-activated
Modification date20141222
dbXrefs MIM : 138280
HGNC : HGNC
Ensembl : ENSG00000115419
HPRD : 00700
Vega : OTTHUMG00000132701
ProteinUniProt: O94925
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GLS
BioGPS: 2744
PathwayNCI Pathway Interaction Database: GLS
KEGG: GLS
REACTOME: GLS
Pathway Commons: GLS
ContextiHOP: GLS
ligand binding site mutation search in PubMed: GLS
UCL Cancer Institute: GLS
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006537glutamate biosynthetic process16899818
GO:0006543glutamine catabolic process22049910
GO:0051289protein homotetramerization22049910


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Ligand binding site mutations for GLS

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Y466M465LLUAD1
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 GLS
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
Y466M465L-0.92829792
(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 GLS from PDB

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Differential gene expression and gene-gene network for GLS
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 GLS and the right PPI network was created from samples without mutations in the LBS of GLS. 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 GLS
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0000786Abortion, Spontaneous1Biomarker
umls:C0029408Osteoarthritis1Biomarker

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

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Pharmacological information for GLS
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
NutraceuticalDB00142L-Glutamic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GLS go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GLUL-GLUTAMIC ACID3czdAY466
GLUL-GLUTAMIC ACID3unwAY466
GLUL-GLUTAMIC ACID3unwBY466
GLUL-GLUTAMIC ACID3unwCY466
GLUL-GLUTAMIC ACID3unwDY466
GLNL-GLUTAMINE3vp0AY466
GLUL-GLUTAMIC ACID3vp1AY466
ONL5-OXO-L-NORLEUCINE4o7dAY466


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Conservation information for LBS of GLS
Multiple alignments for O94925 in multiple species
LBSAA sequence# speciesSpecies
C418FYFQLCSIEVT3Homo sapiens, Mus musculus, Rattus norvegicus
C418LYFQICSIETN1Caenorhabditis elegans
C418FYFQLCSVEVT1Caenorhabditis elegans
D327FLNEDDKPHNP3Homo sapiens, Mus musculus, Rattus norvegicus
D327SLDHNKKPHNP1Caenorhabditis elegans
D327CLDSTNKPHNP1Caenorhabditis elegans
E325KLFLNEDDKPH3Homo sapiens, Mus musculus, Rattus norvegicus
E325DISLDHNKKPH1Caenorhabditis elegans
E325EICLDSTNKPH1Caenorhabditis elegans
E381ATFQSERESGD3Homo sapiens, Mus musculus, Rattus norvegicus
E381SVFLSERETAD1Caenorhabditis elegans
E381ATFLSERATAD1Caenorhabditis elegans
F318PSGLRFNKLFL3Homo sapiens, Mus musculus, Rattus norvegicus
F318PSGRLFNDISL1Caenorhabditis elegans
F318PSGRLFNEICL1Caenorhabditis elegans
F322RFNKLFLNEDD3Homo sapiens, Mus musculus, Rattus norvegicus
F322LFNDISLDHNK1Caenorhabditis elegans
F322LFNEICLDSTN1Caenorhabditis elegans
G483LPAKSGVAGGI3Homo sapiens, Mus musculus, Rattus norvegicus
G483LPAKSGVSGDM1Caenorhabditis elegans
G483LPAKSGVSGAM1Caenorhabditis elegans
K320GLRFNKLFLNE3Homo sapiens, Mus musculus, Rattus norvegicus
K320GRLFNDISLDH1Caenorhabditis elegans
K320GRLFNEICLDS1Caenorhabditis elegans
L321LRFNKLFLNED3Homo sapiens, Mus musculus, Rattus norvegicus
L321RLFNDISLDHN1Caenorhabditis elegans
L321RLFNEICLDST1Caenorhabditis elegans
L323FNKLFLNEDDK3Homo sapiens, Mus musculus, Rattus norvegicus
L323FNDISLDHNKK1Caenorhabditis elegans
L323FNEICLDSTNK1Caenorhabditis elegans
N324NKLFLNEDDKP3Homo sapiens, Mus musculus, Rattus norvegicus
N324NDISLDHNKKP1Caenorhabditis elegans
N324NEICLDSTNKP1Caenorhabditis elegans
N335HNPMVNAGAIV3Homo sapiens, Mus musculus, Rattus norvegicus
N335HNPLINAGAIV1Caenorhabditis elegans
N335HNPMVNSGAIV1Caenorhabditis elegans
N388ESGDRNFAIGY3Homo sapiens, Mus musculus, Rattus norvegicus
N388ETADRNYALSY1Caenorhabditis elegans
N388ATADRNYALSY1Caenorhabditis elegans
Q285VPFCLQSCVKP3Homo sapiens, Mus musculus, Rattus norvegicus
Q285KPFCLQSVSKP1Caenorhabditis elegans
Q285HPFCVQSVSKA1Caenorhabditis elegans
R317EPSGLRFNKLF3Homo sapiens, Mus musculus, Rattus norvegicus
R317EPSGRLFNDIS1Caenorhabditis elegans
R317EPSGRLFNEIC1Caenorhabditis elegans
S286PFCLQSCVKPL3Homo sapiens, Mus musculus, Rattus norvegicus
S286PFCLQSVSKPF1Caenorhabditis elegans
S286PFCVQSVSKAF1Caenorhabditis elegans
V484PAKSGVAGGIL3Homo sapiens, Mus musculus, Rattus norvegicus
V484PAKSGVSGDMI1Caenorhabditis elegans
V484PAKSGVSGAMI1Caenorhabditis elegans
Y249GKVADYIPQLA3Homo sapiens, Mus musculus, Rattus norvegicus
Y249GDLATYIPQLS1Caenorhabditis elegans
Y249GQVATYIPQLA1Caenorhabditis elegans
Y394FAIGYYLKEKK3Homo sapiens, Mus musculus, Rattus norvegicus
Y394YALSYYMREHK1Caenorhabditis elegans
Y394YALSYFMKENR1Caenorhabditis elegans
Y414GILDFYFQLCS3Homo sapiens, Mus musculus, Rattus norvegicus
Y414DTLDLYFQICS1Caenorhabditis elegans
Y414DALDFYFQLCS1Caenorhabditis elegans
Y466HSCGMYDFSGQ3Homo sapiens, Mus musculus, Rattus norvegicus
Y466YSCGMYDWSGQ1Caenorhabditis elegans
Y466YSCGMYDASGQ1Caenorhabditis elegans


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