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 LDHA
Gene summary
Basic gene Info.Gene symbolLDHA
Gene namelactate dehydrogenase A
SynonymsGSD11|HEL-S-133P|LDH1|LDHM
CytomapUCSC genome browser: 11p15.4
Type of geneprotein-coding
RefGenesNM_001135239.1,
NM_001165414.1,NM_001165415.1,NM_001165416.1,NM_005566.3,
NR_028500.1,
DescriptionL-lactate dehydrogenase A chainLDH muscle subunitLDH-ALDH-Mcell proliferation-inducing gene 19 proteinepididymis secretory sperm binding protein Li 133Plactate dehydrogenase Mproliferation-inducing gene 19renal carcinoma antigen NY-REN-59
Modification date20141222
dbXrefs MIM : 150000
HGNC : HGNC
Ensembl : ENSG00000134333
HPRD : 01025
Vega : OTTHUMG00000167721
ProteinUniProt: P00338
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_LDHA
BioGPS: 3939
PathwayNCI Pathway Interaction Database: LDHA
KEGG: LDHA
REACTOME: LDHA
Pathway Commons: LDHA
ContextiHOP: LDHA
ligand binding site mutation search in PubMed: LDHA
UCL Cancer Institute: LDHA
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 LDHA
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
I142T144ACOAD2
I54E55KCOAD1
I142T144IGBM1
R106R106CHNSC1
V235E236QOV1
R169R171CSKCM1
I54E55KSTAD1
I120I120LSTAD1
I252I252TTHCA1
V26V26LUCEC1
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.

Clinical information for LDHA from My Cancer Genome.
Lactate dehydrogenase A (LDHA) is a gene that encodes a protein that functions as an enzyme in anaerobic glycolysis. The protein catalyzes the conversion of L-lactate and NAD to pyruvate and NADH. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer. Related Pathways: Metabolic signaling .Modified: December 4, 2015

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Protein structure related information for LDHA
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
I142T144A-1.2855832
I54E55K-1.0604571
V235E236Q-0.95949836
I120I120L-0.95348981
I252I252T-0.86762607
I142T144I-0.78083863
R169R171C-0.76697289
R106R106C-0.47453818
V26V26L-0.17596945
(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 LDHA from PDB
PDB IDPDB titlePDB structure
4OJNCrystal structure of human muscle L-lactate dehydrogenase

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Differential gene expression and gene-gene network for LDHA
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 LDHA and the right PPI network was created from samples without mutations in the LBS of LDHA. 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 LDHA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0878544Cardiomyopathies1Biomarker
umls:C0027051Myocardial Infarction1Biomarker
umls:C0027080Myoglobinuria1Biomarker

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

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Pharmacological information for LDHA
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
NutraceuticalDB00157NADHSmall molecule
ExperimentalDB02483Etheno-NadSmall molecule
ApprovedDB02701NicotinamideSmall molecule
ExperimentalDB03940Oxamic AcidSmall molecule

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of LDHA
Multiple alignments for P00338 in multiple species
LBSAA sequence# speciesSpecies
A238QVVDSAYEVIK3Drosophila melanogaster, Gallus gallus, Bos taurus
A238QVVESAYEVIK2Homo sapiens, Pan troglodytes
A238KVVDSAYEIIK1Caenorhabditis elegans
A238MVVDSAYEVIK1Danio rerio
A30VVGVGAVGMAC3Homo sapiens, Gallus gallus, Pan troglodytes
A30IVGIGQVGMAS1Drosophila melanogaster
A30VVGVGQVGMAC1Caenorhabditis elegans
A30VVGVGMVGMAA1Danio rerio
A30IVGVGAVGMAC1Bos taurus
A96LVIITAGARQQ3Homo sapiens, Bos taurus, Pan troglodytes
A96LCIVTAGVRQK1Drosophila melanogaster
A96LCVVTAGARQR1Caenorhabditis elegans
A96VVVVTAGARQQ1Danio rerio
A96LVIVTAGARQQ1Gallus gallus
A98IITAGARQQEG3Homo sapiens, Bos taurus, Pan troglodytes
A98IVTAGVRQKEG1Drosophila melanogaster
A98VVTAGARQREG1Caenorhabditis elegans
A98VVTAGARQQEG1Danio rerio
A98IVTAGARQQEG1Gallus gallus
D141VSNPVDILTYV5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
D141VSNPVDIMTYV1Drosophila melanogaster
D141VSNPVDVLTYV1Caenorhabditis elegans
D166SGCNLDSARFR4Homo sapiens, Gallus gallus, Bos taurus, Pan troglodytes
D166SGTNLDSARFR2Caenorhabditis elegans, Danio rerio
D166SGTNLDSSRFR1Drosophila melanogaster
D195LGEHGDSSVPV3Homo sapiens, Bos taurus, Pan troglodytes
D195VGEHGDSSVPV2Danio rerio, Gallus gallus
D195IGEHGDSSVPV1Drosophila melanogaster
D195IGEHGDSSVAV1Caenorhabditis elegans
D52ELALVDVIEDK2Homo sapiens, Pan troglodytes
D52EVCLIDVCADK1Drosophila melanogaster
D52ELCLVDVVADK1Caenorhabditis elegans
D52ELALVDVMEDK1Danio rerio
D52ELTLVDVVEDK1Gallus gallus
D52EVALVDVMEDK1Bos taurus
E192GWVLGEHGDSS2Homo sapiens, Pan troglodytes
E192GWIIGEHGDSS2Drosophila melanogaster, Caenorhabditis elegans
E192GWVVGEHGDSS1Danio rerio
E192GWIVGEHGDSS1Gallus gallus
E192GWILGEHGDSS1Bos taurus
F119VNIFKFIIPNV3Homo sapiens, Gallus gallus, Pan troglodytes
F119VNIFKFIIPNI2Danio rerio, Bos taurus
F119TDILKNIIPKL1Drosophila melanogaster
F119VEIFKGIIPQL1Caenorhabditis elegans
G194VLGEHGDSSVP2Homo sapiens, Pan troglodytes
G194IIGEHGDSSVP1Drosophila melanogaster
G194IIGEHGDSSVA1Caenorhabditis elegans
G194VVGEHGDSSVP1Danio rerio
G194IVGEHGDSSVP1Gallus gallus
G194ILGEHGDSSVP1Bos taurus
G246VIKLKGYTSWA6Homo sapiens, Drosophila melanogaster, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
G246IIKLKGYTSWA1Caenorhabditis elegans
G27KITVVGVGAVG2Homo sapiens, Pan troglodytes
G27KVTIVGIGQVG1Drosophila melanogaster
G27KVTVVGVGQVG1Caenorhabditis elegans
G27KVTVVGVGMVG1Danio rerio
G27KISVVGVGAVG1Gallus gallus
G27KITIVGVGAVG1Bos taurus
G29TVVGVGAVGMA2Homo sapiens, Pan troglodytes
G29TIVGIGQVGMA1Drosophila melanogaster
G29TVVGVGQVGMA1Caenorhabditis elegans
G29TVVGVGMVGMA1Danio rerio
G29SVVGVGAVGMA1Gallus gallus
G29TIVGVGAVGMA1Bos taurus
G97VIITAGARQQE3Homo sapiens, Bos taurus, Pan troglodytes
G97CIVTAGVRQKE1Drosophila melanogaster
G97CVVTAGARQRE1Caenorhabditis elegans
G97VVVTAGARQQE1Danio rerio
G97VIVTAGARQQE1Gallus gallus
H193WVLGEHGDSSV2Homo sapiens, Pan troglodytes
H193WIIGEHGDSSV2Drosophila melanogaster, Caenorhabditis elegans
H193WVVGEHGDSSV1Danio rerio
H193WIVGEHGDSSV1Gallus gallus
H193WILGEHGDSSV1Bos taurus
I116QRNVNIFKFII5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
I116QRNTDILKNII1Drosophila melanogaster
I116QRNVEIFKGII1Caenorhabditis elegans
I120NIFKFIIPNVV3Homo sapiens, Gallus gallus, Pan troglodytes
I120DILKNIIPKLV1Drosophila melanogaster
I120EIFKGIIPQLV1Caenorhabditis elegans
I120NIFKFIIPNII1Danio rerio
I120NIFKFIIPNIV1Bos taurus
I142SNPVDILTYVA5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
I142SNPVDIMTYVA1Drosophila melanogaster
I142SNPVDVLTYVT1Caenorhabditis elegans
I242SAYEVIKLKGY6Homo sapiens, Drosophila melanogaster, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
I242SAYEIIKLKGY1Caenorhabditis elegans
I252YTSWAIGLSVA5Homo sapiens, Caenorhabditis elegans, Gallus gallus, Bos taurus, Pan troglodytes
I252YTSWAIGLSTA1Drosophila melanogaster
I252YTSWAIGMSVA1Danio rerio
I54ALVDVIEDKLK2Homo sapiens, Pan troglodytes
I54ALVDVMEDKLK2Danio rerio, Bos taurus
I54CLIDVCADKLQ1Drosophila melanogaster
I54CLVDVVADKLK1Caenorhabditis elegans
I54TLVDVVEDKLK1Gallus gallus
K57DVIEDKLKGEM2Homo sapiens, Pan troglodytes
K57DVCADKLQGEL1Drosophila melanogaster
K57DVVADKLKGEM1Caenorhabditis elegans
K57DVMEDKLKGEA1Danio rerio
K57DVVEDKLKGEM1Gallus gallus
K57DVMEDKLKGEM1Bos taurus
L109ESRLNLVQRNV5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
L109ESRLSLVQRNT1Drosophila melanogaster
L109ETRLSLVQRNV1Caenorhabditis elegans
L165GSGCNLDSARF4Homo sapiens, Gallus gallus, Bos taurus, Pan troglodytes
L165GSGTNLDSARF2Caenorhabditis elegans, Danio rerio
L165GSGTNLDSSRF1Drosophila melanogaster
L323KSADTLWGIQK4Homo sapiens, Gallus gallus, Bos taurus, Pan troglodytes
L323KSANIMSDVQA1Drosophila melanogaster
L323NSAKALLEVQN1Caenorhabditis elegans
L323KSAETLWGVQK1Danio rerio
N138LLIVSNPVDIL3Homo sapiens, Gallus gallus, Pan troglodytes
N138LLVVSNPVDIL2Danio rerio, Bos taurus
N138LLMVSNPVDIM1Drosophila melanogaster
N138ILVVSNPVDVL1Caenorhabditis elegans
P139LIVSNPVDILT3Homo sapiens, Gallus gallus, Pan troglodytes
P139LVVSNPVDILT2Danio rerio, Bos taurus
P139LMVSNPVDIMT1Drosophila melanogaster
P139LVVSNPVDVLT1Caenorhabditis elegans
Q100TAGARQQEGES5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
Q100TAGVRQKEGES1Drosophila melanogaster
Q100TAGARQREGET1Caenorhabditis elegans
R106QEGESRLNLVQ5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
R106KEGESRLSLVQ1Drosophila melanogaster
R106REGETRLSLVQ1Caenorhabditis elegans
R169NLDSARFRYLM4Homo sapiens, Danio rerio, Bos taurus, Pan troglodytes
R169NLDSSRFRFLM1Drosophila melanogaster
R169NLDSARFRFLL1Caenorhabditis elegans
R169NLDSARFRHLM1Gallus gallus
R99ITAGARQQEGE3Homo sapiens, Bos taurus, Pan troglodytes
R99VTAGARQQEGE2Danio rerio, Gallus gallus
R99VTAGVRQKEGE1Drosophila melanogaster
R99VTAGARQREGE1Caenorhabditis elegans
S137KLLIVSNPVDI3Homo sapiens, Gallus gallus, Pan troglodytes
S137ILLMVSNPVDI1Drosophila melanogaster
S137CILVVSNPVDV1Caenorhabditis elegans
S137ILLVVSNPVDI1Danio rerio
S137KLLVVSNPVDI1Bos taurus
S161NRVIGSGCNLD3Homo sapiens, Bos taurus, Pan troglodytes
S161NRVIGSGTNLD2Drosophila melanogaster, Danio rerio
S161ERVFGSGTNLD1Caenorhabditis elegans
S161HRVIGSGCNLD1Gallus gallus
T248KLKGYTSWAIG7Homo sapiens, Drosophila melanogaster, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
T95KLVIITAGARQ2Homo sapiens, Pan troglodytes
T95RLCIVTAGVRQ1Drosophila melanogaster
T95KLCVVTAGARQ1Caenorhabditis elegans
T95KVVVVTAGARQ1Danio rerio
T95KLVIVTAGARQ1Gallus gallus
T95RLVIITAGARQ1Bos taurus
V110SRLNLVQRNVN5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes
V110SRLSLVQRNTD1Drosophila melanogaster
V110TRLSLVQRNVE1Caenorhabditis elegans
V136CKLLIVSNPVD3Homo sapiens, Gallus gallus, Pan troglodytes
V136TILLMVSNPVD1Drosophila melanogaster
V136TCILVVSNPVD1Caenorhabditis elegans
V136CILLVVSNPVD1Danio rerio
V136CKLLVVSNPVD1Bos taurus
V140IVSNPVDILTY3Homo sapiens, Gallus gallus, Pan troglodytes
V140VVSNPVDILTY2Danio rerio, Bos taurus
V140MVSNPVDIMTY1Drosophila melanogaster
V140VVSNPVDVLTY1Caenorhabditis elegans
V235VHKQVVESAYE2Homo sapiens, Pan troglodytes
V235VHKQVVDSAYE2Gallus gallus, Bos taurus
V235LHKQVVDSAYE1Drosophila melanogaster
V235IHKKVVDSAYE1Caenorhabditis elegans
V235VHKMVVDSAYE1Danio rerio
V26NKITVVGVGAV2Homo sapiens, Pan troglodytes
V26HKVTIVGIGQV1Drosophila melanogaster
V26GKVTVVGVGQV1Caenorhabditis elegans
V26NKVTVVGVGMV1Danio rerio
V26NKISVVGVGAV1Gallus gallus
V26NKITIVGVGAV1Bos taurus
V31VGVGAVGMACA4Homo sapiens, Gallus gallus, Bos taurus, Pan troglodytes
V31VGIGQVGMASA1Drosophila melanogaster
V31VGVGQVGMACA1Caenorhabditis elegans
V31VGVGMVGMAAA1Danio rerio
V53LALVDVIEDKL2Homo sapiens, Pan troglodytes
V53VCLIDVCADKL1Drosophila melanogaster
V53LCLVDVVADKL1Caenorhabditis elegans
V53LALVDVMEDKL1Danio rerio
V53LTLVDVVEDKL1Gallus gallus
V53VALVDVMEDKL1Bos taurus
Y239VVDSAYEVIKL4Drosophila melanogaster, Danio rerio, Gallus gallus, Bos taurus
Y239VVESAYEVIKL2Homo sapiens, Pan troglodytes
Y239VVDSAYEIIKL1Caenorhabditis elegans
Y247IKLKGYTSWAI7Homo sapiens, Drosophila melanogaster, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Pan troglodytes


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