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 TPI1
Gene summary
Basic gene Info.Gene symbolTPI1
Gene nametriosephosphate isomerase 1
SynonymsHEL-S-49|TIM|TPI|TPID
CytomapUCSC genome browser: 12p13
Type of geneprotein-coding
RefGenesNM_000365.5,
NM_001159287.1,NM_001258026.1,
Descriptionepididymis secretory protein Li 49triose-phosphate isomerasetriosephosphate isomerase
Modification date20141207
dbXrefs MIM : 190450
HGNC : HGNC
Ensembl : ENSG00000111669
HPRD : 01833
Vega : OTTHUMG00000133767
ProteinUniProt: P60174
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TPI1
BioGPS: 7167
PathwayNCI Pathway Interaction Database: TPI1
KEGG: TPI1
REACTOME: TPI1
Pathway Commons: TPI1
ContextiHOP: TPI1
ligand binding site mutation search in PubMed: TPI1
UCL Cancer Institute: TPI1
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


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Ligand binding site mutations for TPI1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G248Q249KBRCA1
N49I49VKIRC1
A207R206CLUAD1
A207I207VLUSC1
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 TPI1
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 TPI1 from PDB

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Differential gene expression and gene-gene network for TPI1
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 TPI1 and the right PPI network was created from samples without mutations in the LBS of TPI1. 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 TPI1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0002878Anemia, Hemolytic7Biomarker
umls:C1860808Triosephosphate Isomerase Deficiency3GeneticVariation
umls:C0025521Metabolism, Inborn Errors2Biomarker
umls:C0752252Neuromuscular Manifestations2Biomarker
umls:C0002395Alzheimer Disease1Biomarker
umls:C0002882Anemia, Hemolytic, Congenital Nonspherocytic1Biomarker
umls:C0007137Carcinoma, Squamous Cell1Biomarker
umls:C0279626Esophageal Squamous Cell Carcinoma1Biomarker
umls:C0026640Mouth Neoplasms1Biomarker
umls:C0027868Neuromuscular Diseases1Biomarker
umls:C0029456Osteoporosis1Biomarker

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

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Pharmacological information for TPI1
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
ExperimentalDB01695N-Hydroxy-4-Phosphono-ButanamideSmall molecule
ExperimentalDB027262-Phosphoglycolic AcidSmall molecule
ExperimentalDB03026Phosphoglycolohydroxamic AcidSmall molecule
ExperimentalDB031323-(2-Benzothiazolylthio)-1-Propanesulfonic AcidSmall molecule
ExperimentalDB03135[2(Formyl-Hydroxy-Amino)-Ethyl]-Phosphonic AcidSmall molecule
ExperimentalDB03314FluorotryptophaneSmall molecule
ExperimentalDB033792-Carboxyethylphosphonic AcidSmall molecule
ExperimentalDB039002-Methyl-2-PropanolSmall molecule
ExperimentalDB043261,3-DihydroxyacetonephosphateSmall molecule
ExperimentalDB044471,4-DithiothreitolSmall molecule
ExperimentalDB045103-Phosphoglyceric AcidSmall molecule
ExperimentalDB073873-(BUTYLSULPHONYL)-PROPANOIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of TPI1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of TPI1
Multiple alignments for P60174 in multiple species
LBSAA sequence# speciesSpecies
A207YEPVWAIGTGK12Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Oryza sativa subsp. japonica, Caenorhabditis elegans, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodyte
A207YEPVWAIGTGL3Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A207YEPIWAIGTGL1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
A207YEPVWAIGTGQ1Drosophila melanogaster
E203VVLAYEPVWAI8Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes
E203VVVAYEPVWAI4Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Oryza sativa subsp. japonica, Drosophila melanogaster
E203IVIAYEPVWAI2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans
E203VVIAYEPVWAI2Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Arabidopsis thaliana
E203VVIAYEPIWAI1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G209PVWAIGTGKTA10Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes
G209PVWAIGTGLAA3Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G209PVWAIGTGKVA2Arabidopsis thaliana, Oryza sativa subsp. japonica
G209PIWAIGTGLVA1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G209PVWAIGTGQTA1Drosophila melanogaster
G248RIIYGGSVTGA6Homo sapiens, Oryza sativa subsp. japonica, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes
G248RIIYGGSVTGG3Danio rerio, Xenopus tropicalis, Gallus gallus
G248RVIYGGSVNGG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G248RILYGGSANGK1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G248RILYGGSANGS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G248RILYGGSANGA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G248RILYGGSVNAK1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G248RIIYGGSVNGG1Arabidopsis thaliana
G248RIIYGGSVTAD1Caenorhabditis elegans
G248RIQYGGSVTAA1Drosophila melanogaster
G270DGFLVGGASLK17Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 /
G271GFLVGGASLKP17Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 /
H133WVVLGHSERRH5Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes
H133WVILGHSERRH4Caenorhabditis elegans, Danio rerio, Xenopus tropicalis, Gallus gallus
H133WVILGHSERRT2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H133WVILGHSERRS2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Oryza sativa subsp. japonica
H133WVILGHSERRA2Arabidopsis thaliana, Drosophila melanogaster
H133YTLTGHSERRT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H133WVILGHSERRN1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I208EPVWAIGTGKT10Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes
I208EPVWAIGTGLA3Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I208EPVWAIGTGKV2Arabidopsis thaliana, Oryza sativa subsp. japonica
I208EPIWAIGTGLV1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I208EPVWAIGTGQT1Drosophila melanogaster
K51VGGNWKMNGRK5Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes
K51VGGNWKMNGDK3Danio rerio, Xenopus tropicalis, Gallus gallus
K51VGGNFKLNGSK2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K51VGGNFKMNGSL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K51IGGNFKMNGSK1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K51VGGNFKMNGTR1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K51VGGNWKCNGTA1Arabidopsis thaliana
K51VGGNWKCNGTT1Oryza sativa subsp. japonica
K51VGGNWKMNGDY1Caenorhabditis elegans
K51VGGNWKMNGDQ1Drosophila melanogaster
L268DVDGFLVGGAS12Homo sapiens, Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Arabidopsis t
L268DIDGFLVGGAS5Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Caenorhabditis elegans, Drosophila melanogaster, Xenopus tropicalis
N49FFVGGNWKMNG9Homo sapiens, Caenorhabditis elegans, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes
N49FFVGGNFKMNG2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
N49FFVGGNFKLNG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N49FFVGGNWKCNG2Arabidopsis thaliana, Oryza sativa subsp. japonica
N49FFIGGNFKMNG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N49FCVGGNWKMNG1Drosophila melanogaster


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