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 ALDH5A1
Gene summary
Basic gene Info.Gene symbolALDH5A1
Gene namealdehyde dehydrogenase 5 family, member A1
CytomapUCSC genome browser: 6p22
Type of geneprotein-coding
DescriptionNAD(+)-dependent succinic semialdehyde dehydrogenasealdehyde dehydrogenase 5 family member A1mitochondrial succinate semialdehyde dehydrogenasesuccinate-semialdehyde dehydrogenase, mitochondrial
Modification date20141219
dbXrefs MIM : 610045
Ensembl : ENSG00000112294
HPRD : 08361
Vega : OTTHUMG00000014356
ProteinUniProt: P51649
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALDH5A1
BioGPS: 7915
PathwayNCI Pathway Interaction Database: ALDH5A1
Pathway Commons: ALDH5A1
ContextiHOP: ALDH5A1
ligand binding site mutation search in PubMed: ALDH5A1
UCL Cancer Institute: ALDH5A1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0009450gamma-aminobutyric acid catabolic process9683595
GO:0051289protein homotetramerization16199352

Ligand binding site mutations for ALDH5A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for ALDH5A1
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 ALDH5A1 from PDB
PDB IDPDB titlePDB structure
2W8NThe crystal structure of the oxidized form of human SSADH

Differential gene expression and gene-gene network for ALDH5A1
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 ALDH5A1 and the right PPI network was created from samples without mutations in the LBS of ALDH5A1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ALDH5A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268631succinic semialdehyde dehydrogenase deficiency10Biomarker, GeneticVariation
umls:C0006112Brain Diseases, Metabolic1Biomarker
umls:C0393593Dystonic Disorders1Biomarker
umls:C3714756Intellectual Disability1Biomarker

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

Pharmacological information for ALDH5A1
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
Approved|nutraceuticalDB00139Succinic acidSmall molecule
NutraceuticalDB00157NADHSmall molecule
Approved|investigationalDB00313Valproic AcidSmall molecule
Approved|withdrawnDB00534ChlormerodrinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ALDH5A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP2w8rAT202 W204 K228 F282

Conservation information for LBS of ALDH5A1
Multiple alignments for P51649 in multiple species
LBSAA sequence# speciesSpecies
A230VVVKPAEDTPF2Homo sapiens, Pan troglodytes
A230VVVKPSELTPL1Arabidopsis thaliana
A230VVVKPAEDTPY1Mus musculus
A230VVIKPDSQTPL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A230VVIRPAAETPF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A264CSRKNAKEVGE2Homo sapiens, Pan troglodytes
A264--MGNAPEIGD1Arabidopsis thaliana
A264CSRNKAKEVGE1Mus musculus
A264LSHANTPKLGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A264-TANSPSEHGI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E231VVKPAEDTPFS2Homo sapiens, Pan troglodytes
E231VVKPSELTPLT1Arabidopsis thaliana
E231VVKPAEDTPYS1Mus musculus
E231VIKPDSQTPLS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E231VIRPAAETPFT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E306KRVSMELGGLA3Homo sapiens, Mus musculus, Pan troglodytes
E306KKVSLELGGNA1Arabidopsis thaliana
E306KKLSFELGGNA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E306KKLSLELGGNA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F206ITPWNFPSAMI3Homo sapiens, Mus musculus, Pan troglodytes
F206ITPWNFPLAMI1Arabidopsis thaliana
F206ICPWNFPSAMI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F206ITPWNFPAAMI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F282VSKISFTGSTT2Homo sapiens, Pan troglodytes
F282VRKITFTGSTA1Arabidopsis thaliana
F282VSKISFTGSTA1Mus musculus
F282VKKVTFTGSTN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F282IRKVSFTGSTN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G268NAKEVGEAICT2Homo sapiens, Pan troglodytes
G268NAPEIGDALLT1Arabidopsis thaliana
G268KAKEVGEVLCT1Mus musculus
G268NTPKLGKTLCE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G268SPSEHGIELTT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K228CTVVVKPAEDT3Homo sapiens, Mus musculus, Pan troglodytes
K228CTVVVKPSELT1Arabidopsis thaliana
K228CTVVIKPDSQT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K228CTVVIRPAAET1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R213SAMITRKVGAA3Homo sapiens, Mus musculus, Pan troglodytes
R213LAMITRKVGPA1Arabidopsis thaliana
R213SAMITRKAAAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R213AAMITRKVGAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R334MASKFRNTGQT2Homo sapiens, Pan troglodytes
R334LAAKFRNSGQT1Arabidopsis thaliana
R334MASKFRNAGQT1Mus musculus
R334MACKFRGLGQT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R334MACKFRGSGQT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S285ISFTGSTTTGK2Homo sapiens, Pan troglodytes
S285ITFTGSTAVGK1Arabidopsis thaliana
S285ISFTGSTATGK1Mus musculus
S285VTFTGSTNVGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S285VSFTGSTNVGK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S498NEGLISSVECP3Homo sapiens, Mus musculus, Pan troglodytes
S498NEGLISTEVAP1Arabidopsis thaliana
S498NTGVFSDCSIP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S498NTGLVSDVLSP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T202VAAVITPWNFP2Homo sapiens, Pan troglodytes
T202VVGAITPWNFP1Arabidopsis thaliana
T202VAAIITPWNFP1Mus musculus
T202VCGIICPWNFP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T202VVGIITPWNFP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T288TGSTTTGKILL2Homo sapiens, Pan troglodytes
T288TGSTAVGKKLM1Arabidopsis thaliana
T288TGSTATGKILL1Mus musculus
T288TGSTNVGKILM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T288TGSTNVGKILA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V341TGQTCVCSNQF2Homo sapiens, Pan troglodytes
V341SGQTCVCANRV1Arabidopsis thaliana
V341AGQTCVCSNRF1Mus musculus
V341LGQTCVCANRL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V341SGQTCVCANRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W204AVITPWNFPSA2Homo sapiens, Pan troglodytes
W204GAITPWNFPLA1Arabidopsis thaliana
W204AIITPWNFPSA1Mus musculus
W204GIICPWNFPSA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W204GIITPWNFPAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y159HGEILYSAFFL2Homo sapiens, Pan troglodytes
Y159IGEVAYGASFI1Arabidopsis thaliana
Y159QGEILYSALFL1Mus musculus
Y159KGEIKYAASYF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y159KGEVVYAAKFI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)

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