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 ALAD
Gene summary
Basic gene Info.Gene symbolALAD
Gene nameaminolevulinate dehydratase
SynonymsALADH|PBGS
CytomapUCSC genome browser: 9q33.1
Type of geneprotein-coding
RefGenesNM_000031.5,
NM_001003945.1,
Descriptionaminolevulinate, delta-, dehydratasedelta-aminolevulinic acid dehydrataseporphobilinogen synthase
Modification date20141207
dbXrefs MIM : 125270
HGNC : HGNC
Ensembl : ENSG00000148218
HPRD : 00504
Vega : OTTHUMG00000020522
ProteinUniProt: P13716
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALAD
BioGPS: 210
PathwayNCI Pathway Interaction Database: ALAD
KEGG: ALAD
REACTOME: ALAD
Pathway Commons: ALAD
ContextiHOP: ALAD
ligand binding site mutation search in PubMed: ALAD
UCL Cancer Institute: ALAD
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:0006783heme biosynthetic process11032836


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Ligand binding site mutations for ALAD

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R209R209QCOAD1
C124P125LSKCM1
C124P125SUCEC1
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 ALAD
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
C124P125S-1.77417
R209R209Q-1.2501195
C124P125L-1.1579895
(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 ALAD from PDB

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Differential gene expression and gene-gene network for ALAD
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 ALAD and the right PPI network was created from samples without mutations in the LBS of ALAD. 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 ALAD
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0023176Lead Poisoning10Biomarker, GeneticVariation
umls:C0268328Porphyria, Acute Hepatic4Biomarker, GeneticVariation
umls:C0162533Porphyrias, Hepatic3Biomarker
umls:C0036572Seizures2Biomarker
umls:C0020538Hypertension2Biomarker, GeneticVariation
umls:C0025286Meningioma1Biomarker
umls:C0007134Carcinoma, Renal Cell1Biomarker
umls:C0314657Genetic Predisposition to Disease1Biomarker
umls:C0751859Lead Poisoning, Nervous System1Biomarker

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

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Pharmacological information for ALAD
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
ApprovedDB00855Aminolevulinic acidSmall molecule
ExperimentalDB02068Delta-Amino Valeric AcidSmall molecule
ExperimentalDB02239Laevulinic AcidSmall molecule
ExperimentalDB022604-Oxosebacic AcidSmall molecule
ExperimentalDB02272PorphobilinogenSmall molecule
ExperimentalDB028783-(2-Aminoethyl)-4-(Aminomethyl)Heptanedioic AcidSmall molecule
ExperimentalDB045604,7-Dioxosebacic AcidSmall molecule
ExperimentalDB047815-hydroxyvaleric acidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ALAD go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)1e51AC124
ZNZINC(2+)1pv8AC124
PBGPORPHOBILINOGEN1e51AC124 R209
PB13-(2-AMINOETHYL)-4-(AMINOMETHYL)HEPTANEDIOIC ACID1pv8AR209


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Conservation information for LBS of ALAD
Multiple alignments for P13716 in multiple species
LBSAA sequence# speciesSpecies
C122VACDVCLCPYT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C122IYTDVALDPYS1Arabidopsis thaliana
C122VYTDVALDPYS1Oryza sativa subsp. japonica
C122VACDVCLCEYT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C122IICDVCLCEYT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C122ILCDVCLCEYT1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C124CDVCLCPYTSH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C124TDVALDPYSSD2Arabidopsis thaliana, Oryza sativa subsp. japonica
C124CDVCLCEYTSH2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C124CDVCLCEYTDH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C132TSHGHCGLLSE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C132SSDGHDGIVRE2Arabidopsis thaliana, Oryza sativa subsp. japonica
C132TSHGHCGVLYD2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C132TDHGHCGLLYE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F208CFYGPFRDAAQ3Mus musculus, Rattus norvegicus, Bos taurus
F208SFYGPFREALD2Arabidopsis thaliana, Oryza sativa subsp. japonica
F208NLYGPFRDAAC2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F208CFYGPFRDAAK1Homo sapiens
F208GFFGPFRAAAN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K199MSYSAKFASCF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K199MSYTAKYASSF2Arabidopsis thaliana, Oryza sativa subsp. japonica
K199ISYSAKFASGF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K199LSYAAKFSGNL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K199MSYAAKFSGNL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K252DILLVKPGLPY2Arabidopsis thaliana, Oryza sativa subsp. japonica
K252DGIIVKPSTFY2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K252DMLMVKPGMPY1Homo sapiens
K252DMLMVKPGLPY1Mus musculus
K252DILMVKPGLPY1Rattus norvegicus
K252DLLMVKPGTPY1Bos taurus
K252DGIMVKPGTPY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q225DRRCYQLPPGA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Q225DKKTYQMNPAN2Arabidopsis thaliana, Oryza sativa subsp. japonica
Q225DRSCYQLPCNA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q225DRKCYQLPPAG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q225DRKCYQLPSGG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R209FYGPFRDAAQS3Mus musculus, Rattus norvegicus, Bos taurus
R209FYGPFREALDS2Arabidopsis thaliana, Oryza sativa subsp. japonica
R209LYGPFRDAACS2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R209FYGPFRDAAKS1Homo sapiens
R209FFGPFRAAANG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R221PAFGDRRCYQL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R221PRFGDKKTYQM2Arabidopsis thaliana, Oryza sativa subsp. japonica
R221PKFGDRSCYQL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R221PSNGDRKCYQL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R221PSQGDRKCYQL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S168QVVAPSDMMDG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S168DVVSPSDMMDG2Arabidopsis thaliana, Oryza sativa subsp. japonica
S168QIISPSDCMDG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S168HCVAPSDMIDG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S168HSVAPSDMIDG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S279AVYHVSGEFAM2Homo sapiens, Bos taurus
S279AAYQVSGEYSM2Arabidopsis thaliana, Oryza sativa subsp. japonica
S279AVYQVSGEFAM2Mus musculus, Rattus norvegicus
S279CAYHVSGEYAM2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S279ATYQVSGEFAI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V278LAVYHVSGEFA2Homo sapiens, Bos taurus
V278IAAYQVSGEYS2Arabidopsis thaliana, Oryza sativa subsp. japonica
V278LAVYQVSGEFA2Mus musculus, Rattus norvegicus
V278ICAYHVSGEYA2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
V278IATYQVSGEFA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y196VSVMSYSAKFA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y196VSIMSYTAKYA2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y196VCVISYSAKFA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y196TFVLSYAAKFS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y196TFVMSYAAKFS1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y205FASCFYGPFRD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y205YASSFYGPFRE2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y205FSGNLYGPFRD2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y205FASGFFGPFRA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y276LPLAVYHVSGE2Homo sapiens, Bos taurus
Y276LPIAAYQVSGE2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y276LPLAVYQVSGE2Mus musculus, Rattus norvegicus
Y276LPIATYQVSGE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y276LPICAYHVSGE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y276VPICAYHVSGE1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y318DIIITYFAPQL2Mus musculus, Rattus norvegicus
Y318DIIITYYTPQL1Homo sapiens
Y318DIILTYFALQA1Arabidopsis thaliana
Y318DIILTYFARQA1Oryza sativa subsp. japonica
Y318DVIITYYTPQL1Bos taurus
Y318NIVLTYFTPEL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y318RLIITYLAPEF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y318RLIISYMTPEF1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)


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