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 ALDH1A1
Gene summary
Basic gene Info.Gene symbolALDH1A1
Gene namealdehyde dehydrogenase 1 family, member A1
SynonymsALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1
CytomapUCSC genome browser: 9q21.13
Type of geneprotein-coding
RefGenesNM_000689.4,
DescriptionALDH class 1ALHDIIRALDH 1acetaldehyde dehydrogenase 1aldehyde dehydrogenase 1, solublealdehyde dehydrogenase, liver cytosolicepididymis luminal protein 12epididymis luminal protein 9epididymis secretory sperm binding protein Li 53eretinal dehydro
Modification date20141222
dbXrefs MIM : 100640
HGNC : HGNC
Ensembl : ENSG00000165092
HPRD : 00001
Vega : OTTHUMG00000020019
ProteinUniProt: P00352
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALDH1A1
BioGPS: 216
PathwayNCI Pathway Interaction Database: ALDH1A1
KEGG: ALDH1A1
REACTOME: ALDH1A1
Pathway Commons: ALDH1A1
ContextiHOP: ALDH1A1
ligand binding site mutation search in PubMed: ALDH1A1
UCL Cancer Institute: ALDH1A1
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 ALDH1A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G271K273TBLCA1
F402F402VCOAD1
C302Q301RCOAD1
K193V191AKIRC1
G271G272VSKCM1
T129R131HSTAD1
I304I304VUCEC1
I304A306TUCEC1
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 ALDH1A1
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
T129R131H-1.7514445
K193V191A-1.6114666
I304A306T-1.2789915
C302Q301R-0.94022045
I304I304V-0.90651725
G271G272V-0.70704934
F402F402V-0.69831613
G271K273T-0.39409703
(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 ALDH1A1 from PDB

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Differential gene expression and gene-gene network for ALDH1A1
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 ALDH1A1 and the right PPI network was created from samples without mutations in the LBS of ALDH1A1. 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 ALDH1A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007134Carcinoma, Renal Cell3Biomarker
umls:C0023893Liver Cirrhosis, Experimental1Biomarker
umls:C0242422Parkinsonian Disorders1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

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Pharmacological information for ALDH1A1
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
Approved|nutraceutical|vet_approvedDB00162Vitamin ASmall molecule
Approved|investigational|nutraceuticalDB00755TretinoinSmall molecule
ExperimentalDB044471,4-DithiothreitolSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ALDH1A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
3XGETHYL ({4-OXO-3-[3-(PYRROLIDIN-1-YL)PROPYL]-3,4- DIHYDRO[1]BENZOTHIENO[3,2-D]PYRIMIDIN-2-YL}SULFANYL) ACETATE4x4lAC302 I304
K9P1-[(1S)-1-METHYL-5-OXIDANYL-1,2- DIHYDROBENZO[E]INDOL-3-YL]HEXAN-1-ONE5ac2AC302 I304
NAINADH4wb9AK193 G271 F402
NAINADH4x4lAK193 G271 F402
TXE1,2,3,4-TETRAHYDRONICOTINAMIDE ADENINE DINUCLEOTIDE[[(2R,3S,4R,5R)-5-[(3R)-3-AMINOCARBONYL-3,4- DIHYDRO-2H-PYRIDIN-1-YL]-3,4-BIS(OXIDANYL) OXOLAN-2-YL]METHOXY-OXIDANIDYL-PHOSPHORYL] [(2R, 3S,4R,5R)-5-(6-AMINOPURIN-9-YL)-3,4- BIS(OXIDANYL)OXOLAN-2-YL]METHYL PHOSPHATE5ac2AK193 G271 F402
3SR8-{[4-(FURAN-2-YLCARBONYL)PIPERAZIN-1-YL]METHYL}-1,3- DIMETHYL-7-(3-METHYLBUTYL)-3,7-DIHYDRO-1H-PURINE-2,6- DIONE4wp7AT129 C302 I304
3ST1-{[1,3-DIMETHYL-7-(3-METHYLBUTYL)-2,6-DIOXO-2,3,6,7- TETRAHYDRO-1H-PURIN-8-YL]METHYL}PIPERIDINE-4- CARBOXAMIDE4wpnAT129 C302 I304


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Conservation information for LBS of ALDH1A1
Multiple alignments for P00352 in multiple species
LBSAA sequence# speciesSpecies
A195VVVKPAEQTPL5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
A195MVVKPAEQTSL1Arabidopsis thaliana
A231GPTAGAAISSH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A231GSTAGAAIASH1Arabidopsis thaliana
A231GPTAGAAISHH1Gallus gallus
A462YGVVSAQCPFG1Homo sapiens
A462YFGFDLDCPYG1Arabidopsis thaliana
A462YSAFSAQCPFG1Gallus gallus
A462YMMLSAQCPFG1Mus musculus
A462YMILSAQCPFG1Rattus norvegicus
A462YSVVSAQCPFG1Bos taurus
C302YHQGQCCIAAS2Homo sapiens, Bos taurus
C302YHQGQCCVAAS2Mus musculus, Rattus norvegicus
C302YNKGEICVASS1Arabidopsis thaliana
C302YHQGQCCIAGS1Gallus gallus
C303HQGQCCIAASR2Homo sapiens, Bos taurus
C303HQGQCCVAASR2Mus musculus, Rattus norvegicus
C303NKGEICVASSR1Arabidopsis thaliana
C303HQGQCCIAGSR1Gallus gallus
E196VVKPAEQTPLT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E196VVKPAEQTSLS1Arabidopsis thaliana
E196VVKPAEQTPLS1Gallus gallus
E269KRVTLELGGKS4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
E269KKVSLELGGKS1Arabidopsis thaliana
E269KRVSLELGGKS1Bos taurus
E349PQIDKEQHDKI2Mus musculus, Rattus norvegicus
E349PQIDKEQYDKI1Homo sapiens
E349PQVDKRQFEKI1Arabidopsis thaliana
E349PQIDKEQFQKI1Gallus gallus
E349PQIDKEQYEKI1Bos taurus
E400RIAKEEIFGPV5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
E400KIYQDEIFGPV1Arabidopsis thaliana
F171IIPWNFPLLMF2Rattus norvegicus, Bos taurus
F171IIPWNFPLVML1Homo sapiens
F171IIPWNFPSIMF1Arabidopsis thaliana
F171IIPWNFPLVMF1Gallus gallus
F171IIPWNFPMLMF1Mus musculus
F244VDKVAFTGSTQ2Mus musculus, Rattus norvegicus
F244IDKVAFTGSTE1Homo sapiens
F244VDKVSFTGSTD1Arabidopsis thaliana
F244IDKVSFTGSTE1Gallus gallus
F244VDKVAFTGSTE1Bos taurus
F290DIAVEFAHHGV2Mus musculus, Rattus norvegicus
F290DNAVEFAHHGV1Homo sapiens
F290DKAADLALLGC1Arabidopsis thaliana
F290DEAAEFAHIGL1Gallus gallus
F290DNAVEFAHQGV1Bos taurus
F402AKEEIFGPVQQ5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
F402YQDEIFGPVMS1Arabidopsis thaliana
F466SAQCPFGGFKM5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
F466DLDCPYGGYKM1Arabidopsis thaliana
G125LNDLAGCIKTL1Homo sapiens
G125YADIPATAGHF1Arabidopsis thaliana
G125LMDLGACIKTI1Gallus gallus
G125LSDLGGCIKAL1Mus musculus
G125LSDLGGSIKAL1Rattus norvegicus
G125LMDLGGCIKTL1Bos taurus
G226IVPGYGPTAGA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G226IVTGFGSTAGA1Arabidopsis thaliana
G226IVPGFGPTAGA1Gallus gallus
G230YGPTAGAAISS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G230FGSTAGAAIAS1Arabidopsis thaliana
G230FGPTAGAAISH1Gallus gallus
G246KVAFTGSTEVG2Homo sapiens, Bos taurus
G246KVAFTGSTQVG2Mus musculus, Rattus norvegicus
G246KVSFTGSTDVG1Arabidopsis thaliana
G246KVSFTGSTEVG1Gallus gallus
G271VTLELGGKSPC3Homo sapiens, Mus musculus, Rattus norvegicus
G271VSLELGGKSPL1Arabidopsis thaliana
G271VTLELGGKSPN1Gallus gallus
G271VSLELGGKSPC1Bos taurus
G294EFAHHGVFYHQ3Homo sapiens, Mus musculus, Rattus norvegicus
G294DLALLGCFYNK1Arabidopsis thaliana
G294EFAHIGLFYHQ1Gallus gallus
G294EFAHQGVFYHQ1Bos taurus
G458WVNCYGVVSAQ1Homo sapiens
G458WVNCYFGFDLD1Arabidopsis thaliana
G458WVNCYSAFSAQ1Gallus gallus
G458WVNCYMMLSAQ1Mus musculus
G458WVNCYMILSAQ1Rattus norvegicus
G458WVNCYSVVSAQ1Bos taurus
H293VEFAHHGVFYH3Homo sapiens, Mus musculus, Rattus norvegicus
H293ADLALLGCFYN1Arabidopsis thaliana
H293AEFAHIGLFYH1Gallus gallus
H293VEFAHQGVFYH1Bos taurus
I166GVCGQIIPWNF5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
I166GVVGNIIPWNF1Arabidopsis thaliana
I167VCGQIIPWNFP5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
I167VVGNIIPWNFP1Arabidopsis thaliana
I254EVGKLIKEAAG3Homo sapiens, Gallus gallus, Bos taurus
I254QVGKLIKEAAG2Mus musculus, Rattus norvegicus
I254DVGRKIMQAAA1Arabidopsis thaliana
I304QGQCCVAASRI2Mus musculus, Rattus norvegicus
I304QGQCCIAASRI1Homo sapiens
I304KGEICVASSRV1Arabidopsis thaliana
I304QGQCCIAGSRI1Gallus gallus
I304QGQCCIAASRL1Bos taurus
K193NTVVVKPAEQT5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
K193CTMVVKPAEQT1Arabidopsis thaliana
K353KEQHDKILDLI2Mus musculus, Rattus norvegicus
K353KEQYDKILDLI1Homo sapiens
K353KRQFEKILSYI1Arabidopsis thaliana
K353KEQFQKILDLI1Gallus gallus
K353KEQYEKILDLI1Bos taurus
L270RVTLELGGKSP4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
L270KVSLELGGKSP1Arabidopsis thaliana
L270RVSLELGGKSP1Bos taurus
M175NFPLVMLIWKI1Homo sapiens
M175NFPSIMFATKV1Arabidopsis thaliana
M175NFPLVMFIWKI1Gallus gallus
M175NFPMLMFIWKI1Mus musculus
M175NFPLLMFIWKI1Rattus norvegicus
M175NFPLLMFLWKI1Bos taurus
N170QIIPWNFPLVM2Homo sapiens, Gallus gallus
N170QIIPWNFPLLM2Rattus norvegicus, Bos taurus
N170NIIPWNFPSIM1Arabidopsis thaliana
N170QIIPWNFPMLM1Mus musculus
P168CGQIIPWNFPL4Homo sapiens, Gallus gallus, Rattus norvegicus, Bos taurus
P168VGNIIPWNFPS1Arabidopsis thaliana
P168CGQIIPWNFPM1Mus musculus
Q350QIDKEQHDKIL2Mus musculus, Rattus norvegicus
Q350QIDKEQYDKIL1Homo sapiens
Q350QVDKRQFEKIL1Arabidopsis thaliana
Q350QIDKEQFQKIL1Gallus gallus
Q350QIDKEQYEKIL1Bos taurus
S247VAFTGSTEVGK2Homo sapiens, Bos taurus
S247VAFTGSTQVGK2Mus musculus, Rattus norvegicus
S247VSFTGSTDVGR1Arabidopsis thaliana
S247VSFTGSTEVGK1Gallus gallus
T129AGCIKTLRYCA1Homo sapiens
T129PATAGHFRYNA1Arabidopsis thaliana
T129GACIKTIRYCA1Gallus gallus
T129GGCIKALKYCA1Mus musculus
T129GGSIKALKYCA1Rattus norvegicus
T129GGCIKTLRYCA1Bos taurus
T245DKVAFTGSTEV2Homo sapiens, Bos taurus
T245DKVAFTGSTQV2Mus musculus, Rattus norvegicus
T245DKVSFTGSTDV1Arabidopsis thaliana
T245DKVSFTGSTEV1Gallus gallus
V174WNFPLVMLIWK1Homo sapiens
V174WNFPSIMFATK1Arabidopsis thaliana
V174WNFPLVMFIWK1Gallus gallus
V174WNFPMLMFIWK1Mus musculus
V174WNFPLLMFIWK1Rattus norvegicus
V174WNFPLLMFLWK1Bos taurus
V250TGSTEVGKLIK3Homo sapiens, Gallus gallus, Bos taurus
V250TGSTQVGKLIK2Mus musculus, Rattus norvegicus
V250TGSTDVGRKIM1Arabidopsis thaliana
V460NCYGVVSAQCP1Homo sapiens
V460NCYFGFDLDCP1Arabidopsis thaliana
V460NCYSAFSAQCP1Gallus gallus
V460NCYMMLSAQCP1Mus musculus
V460NCYMILSAQCP1Rattus norvegicus
V460NCYSVVSAQCP1Bos taurus
W169GQIIPWNFPLV2Homo sapiens, Gallus gallus
W169GQIIPWNFPLL2Rattus norvegicus, Bos taurus
W169GNIIPWNFPSI1Arabidopsis thaliana
W169GQIIPWNFPML1Mus musculus
W178LVMLIWKIGPA1Homo sapiens
W178SIMFATKVAPA1Arabidopsis thaliana
W178LVMFIWKIAPA1Gallus gallus
W178MLMFIWKIGPA1Mus musculus
W178LLMFIWKIGPA1Rattus norvegicus
W178LLMFLWKIGPA1Bos taurus
Y297HHGVFYHQGQC3Homo sapiens, Mus musculus, Rattus norvegicus
Y297LLGCFYNKGEI1Arabidopsis thaliana
Y297HIGLFYHQGQC1Gallus gallus
Y297HQGVFYHQGQC1Bos taurus
Y457VWVNCYGVVSA1Homo sapiens
Y457IWVNCYFGFDL1Arabidopsis thaliana
Y457VWVNCYSAFSA1Gallus gallus
Y457VWVNCYMMLSA1Mus musculus
Y457VWVNCYMILSA1Rattus norvegicus
Y457VWVNCYSVVSA1Bos taurus


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