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 ALDH3A1
Gene summary
Basic gene Info.Gene symbolALDH3A1
Gene namealdehyde dehydrogenase 3 family, member A1
SynonymsALDH3|ALDHIII
CytomapUCSC genome browser: 17p11.2
Type of geneprotein-coding
RefGenesNM_000691.4,
NM_001135167.1,NM_001135168.1,
Descriptionaldehyde dehydrogenase isozyme 3aldehyde dehydrogenase type IIIaldehyde dehydrogenase, dimeric NADP-preferringstomach aldehyde dehydrogenase
Modification date20141207
dbXrefs MIM : 100660
HGNC : HGNC
Ensembl : ENSG00000108602
HPRD : 00004
Vega : OTTHUMG00000059469
ProteinUniProt: P30838
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALDH3A1
BioGPS: 218
PathwayNCI Pathway Interaction Database: ALDH3A1
KEGG: ALDH3A1
REACTOME: ALDH3A1
Pathway Commons: ALDH3A1
ContextiHOP: ALDH3A1
ligand binding site mutation search in PubMed: ALDH3A1
UCL Cancer Institute: ALDH3A1
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:0006081cellular aldehyde metabolic process1737758
GO:0055114oxidation-reduction process1737758


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Ligand binding site mutations for ALDH3A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
S189T190MCOAD1
W234A233TGBM1
M238N239ILUAD1
E141P139LSKCM1
I392D390YSKCM1
F336F336LSTAD1
E210T208MSTAD1
M238F237LUCEC1
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 ALDH3A1
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
S189T190M0.098271607
I392D390Y0.025062696
W234A233T-1.1908563
F336F336L-0.41365632
E141P139L-0.40737006
E210T208M-0.39875582
M238F237L-0.32321883
M238N239I-0.22924902
(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 ALDH3A1 from PDB

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Differential gene expression and gene-gene network for ALDH3A1
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 ALDH3A1 and the right PPI network was created from samples without mutations in the LBS of ALDH3A1. 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 ALDH3A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for ALDH3A1
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ALDH3A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ALDH3A1
Multiple alignments for P30838 in multiple species
LBSAA sequence# speciesSpecies
C244NSGQTCVAPDY4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
C244NNGQACVSPDY1Arabidopsis thaliana
E141VLKPSELSENM1Homo sapiens
E141VLKPSELAPAS1Arabidopsis thaliana
E141VLKPSEVSDHM1Mus musculus
E141ILKPSEVSGHM1Rattus norvegicus
E141VIKPSELSENM1Canis lupus familiaris
E210TPVTLELGGKS3Homo sapiens, Mus musculus, Rattus norvegicus
E210TPVVLELGGKS1Arabidopsis thaliana
E210TPVTLELGGKN1Canis lupus familiaris
E334PVMQEEIFGPV3Homo sapiens, Mus musculus, Rattus norvegicus
E334LIMSEEIFGPL1Arabidopsis thaliana
E334QVMQEEIFGPV1Canis lupus familiaris
E62WNAYYEEVVYV2Homo sapiens, Canis lupus familiaris
E62WTSYYEEVAHV2Mus musculus, Rattus norvegicus
E62LESSVYEVSLL1Arabidopsis thaliana
E63NAYYEEVVYVL2Homo sapiens, Canis lupus familiaris
E63TSYYEEVAHVL2Mus musculus, Rattus norvegicus
E63ESSVYEVSLLR1Arabidopsis thaliana
F336MQEEIFGPVMP3Mus musculus, Rattus norvegicus, Canis lupus familiaris
F336MQEEIFGPVLP1Homo sapiens
F336MSEEIFGPLLP1Arabidopsis thaliana
F402VPTLPFGGVGN2Mus musculus, Rattus norvegicus
F402LHSLPFGGVGN1Homo sapiens
F402LHTLPFGGVGE1Arabidopsis thaliana
F402VHSLPYGGVGN1Canis lupus familiaris
G188HIMYTGSTAVG2Mus musculus, Rattus norvegicus
G188HILYTGSTGVG1Homo sapiens
G188KIFYTGSSKIG1Arabidopsis thaliana
G188HILYTGNTAVG1Canis lupus familiaris
G212VTLELGGKSPC3Homo sapiens, Mus musculus, Rattus norvegicus
G212VVLELGGKSPV1Arabidopsis thaliana
G212VTLELGGKNPC1Canis lupus familiaris
H290IISARHFQRVM1Homo sapiens
H290IVNSNHFDRLS1Arabidopsis thaliana
H290IINDRHFQRVI1Mus musculus
H290IINDRHFQRVK1Rattus norvegicus
H290IINSRHFQRVM1Canis lupus familiaris
H414GMGSYHGKKSF2Homo sapiens, Canis lupus familiaris
H414GMGAYHGKKSF2Mus musculus, Rattus norvegicus
H414GMGAYHGKFSF1Arabidopsis thaliana
I195TAVGKIVMAAA2Mus musculus, Rattus norvegicus
I195TGVGKIIMTAA1Homo sapiens
I195SKIGRVIMAAA1Arabidopsis thaliana
I195TAVGKVIMMAA1Canis lupus familiaris
I392TANDVIVHITV2Mus musculus, Rattus norvegicus
I392AANDVIVHITL1Homo sapiens
I392VVNDIAVHLAL1Arabidopsis thaliana
I392TANDVIVHVSV1Canis lupus familiaris
I395DVIVHITVPTL2Mus musculus, Rattus norvegicus
I395DVIVHITLHSL1Homo sapiens
I395DIAVHLALHTL1Arabidopsis thaliana
I395DVIVHVSVHSL1Canis lupus familiaris
L120NYPFNLTIQPM3Homo sapiens, Mus musculus, Rattus norvegicus
L120NYPFLLSIDPV1Arabidopsis thaliana
L120NYPFTVTIQPM1Canis lupus familiaris
L142LKPSELSENMA1Homo sapiens
L142LKPSELAPASS1Arabidopsis thaliana
L142LKPSEVSDHMA1Mus musculus
L142LKPSEVSGHMA1Rattus norvegicus
L142IKPSELSENMA1Canis lupus familiaris
L211PVTLELGGKSP3Homo sapiens, Mus musculus, Rattus norvegicus
L211PVVLELGGKSP1Arabidopsis thaliana
L211PVTLELGGKNP1Canis lupus familiaris
L362QREKPLALYVF3Mus musculus, Rattus norvegicus, Canis lupus familiaris
L362QREKPLALYMF1Homo sapiens
L362SRPKPLAAYLF1Arabidopsis thaliana
M238WGKF-MNSGQT4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
M238VGKWGCNNGQA1Arabidopsis thaliana
N115VIGAWNYPFNL2Mus musculus, Rattus norvegicus
N115VIGTWNYPFNL1Homo sapiens
N115VISAWNYPFLL1Arabidopsis thaliana
N115IIGTWNYPFTV1Canis lupus familiaris
N119WNYPFNLTIQP3Homo sapiens, Mus musculus, Rattus norvegicus
N119WNYPFLLSIDP1Arabidopsis thaliana
N119WNYPFTVTIQP1Canis lupus familiaris
Q123FNLTIQPMVGA3Homo sapiens, Mus musculus, Rattus norvegicus
Q123FLLSIDPVIGA1Arabidopsis thaliana
Q123FTVTIQPMVGA1Canis lupus familiaris
R289RIINDRHFQRV2Mus musculus, Rattus norvegicus
R289RIISARHFQRV1Homo sapiens
R289RIVNSNHFDRL1Arabidopsis thaliana
R289RIINSRHFQRV1Canis lupus familiaris
S189IMYTGSTAVGK2Mus musculus, Rattus norvegicus
S189ILYTGSTGVGK1Homo sapiens
S189IFYTGSSKIGR1Arabidopsis thaliana
S189ILYTGNTAVGK1Canis lupus familiaris
T113VLVIGAWNYPF2Mus musculus, Rattus norvegicus
T113VLVIGTWNYPF1Homo sapiens
T113VLVISAWNYPF1Arabidopsis thaliana
T113VLIIGTWNYPF1Canis lupus familiaris
T187DHIMYTGSTAV2Mus musculus, Rattus norvegicus
T187DHILYTGSTGV1Homo sapiens
T187DKIFYTGSSKI1Arabidopsis thaliana
T187DHILYTGNTAV1Canis lupus familiaris
T243MNSGQTCVAPD4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
T243CNNGQACVSPD1Arabidopsis thaliana
T396VIVHITVPTLP2Mus musculus, Rattus norvegicus
T396VIVHITLHSLP1Homo sapiens
T396IAVHLALHTLP1Arabidopsis thaliana
T396VIVHVSVHSLP1Canis lupus familiaris
V170VINGGVPETTE1Homo sapiens
V170VVEGAVTETSA1Arabidopsis thaliana
V170VIKGGVPETTE1Mus musculus
V170VVKGGVPETTE1Rattus norvegicus
V170VISGGIPETTE1Canis lupus familiaris
V192TGSTAVGKIVM2Mus musculus, Rattus norvegicus
V192TGSTGVGKIIM1Homo sapiens
V192TGSSKIGRVIM1Arabidopsis thaliana
V192TGNTAVGKVIM1Canis lupus familiaris
V245SGQTCVAPDYI4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
V245NGQACVSPDYI1Arabidopsis thaliana
V393ANDVIVHITVP2Mus musculus, Rattus norvegicus
V393ANDVIVHITLH1Homo sapiens
V393VNDIAVHLALH1Arabidopsis thaliana
V393ANDVIVHVSVH1Canis lupus familiaris
W114LVIGAWNYPFN2Mus musculus, Rattus norvegicus
W114LVIGTWNYPFN1Homo sapiens
W114LVISAWNYPFL1Arabidopsis thaliana
W114LIIGTWNYPFT1Canis lupus familiaris
W234CRRIAWGKF-M4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
W234VRRIIVGKWGC1Arabidopsis thaliana
Y116IGAWNYPFNLT2Mus musculus, Rattus norvegicus
Y116IGTWNYPFNLT1Homo sapiens
Y116ISAWNYPFLLS1Arabidopsis thaliana
Y116IGTWNYPFTVT1Canis lupus familiaris
Y413SGMGSYHGKKS2Homo sapiens, Canis lupus familiaris
Y413SGMGAYHGKKS2Mus musculus, Rattus norvegicus
Y413SGMGAYHGKFS1Arabidopsis thaliana
Y66YEEVVYVLEEI2Homo sapiens, Canis lupus familiaris
Y66VYEVSLLRNSI1Arabidopsis thaliana
Y66YEEVAHVLDEI1Mus musculus
Y66YEEVAHVLEEL1Rattus norvegicus


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