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 ERAP1
Gene summary
Basic gene Info.Gene symbolERAP1
Gene nameendoplasmic reticulum aminopeptidase 1
SynonymsA-LAP|ALAP|APPILS|ARTS-1|ARTS1|ERAAP|ERAAP1|PILS-AP|PILSAP
CytomapUCSC genome browser: 5q15
Type of geneprotein-coding
RefGenesNM_001040458.1,
NM_001198541.1,NM_016442.3,
Descriptionadipocyte-derived leucine aminopeptidaseaminopeptidase PILSaminopeptidase regulator of TNFR1 sheddingendoplasmic reticulum aminopeptidase 1 delta-Exon-11 isoformendoplasmic reticulum aminopeptidase 1 delta-Exon-13 isoformendoplasmic reticulum aminope
Modification date20141207
dbXrefs MIM : 606832
HGNC : HGNC
Ensembl : ENSG00000164307
HPRD : 06015
Vega : OTTHUMG00000128721
ProteinUniProt: Q9NZ08
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ERAP1
BioGPS: 51752
PathwayNCI Pathway Interaction Database: ERAP1
KEGG: ERAP1
REACTOME: ERAP1
Pathway Commons: ERAP1
ContextiHOP: ERAP1
ligand binding site mutation search in PubMed: ERAP1
UCL Cancer Institute: ERAP1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006509membrane protein ectodomain proteolysis12748171


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Ligand binding site mutations for ERAP1
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
E354L355VBRCA1
E383E383KCOAD1
Q181S179LHNSC1
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 ERAP1
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
E383E383K-1.1103314
E354L355V-0.79333677
Q181S179L-0.14387982
(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 ERAP1 from PDB

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Differential gene expression and gene-gene network for ERAP1
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 ERAP1 and the right PPI network was created from samples without mutations in the LBS of ERAP1. 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 ERAP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0038013Spondylitis, Ankylosing50Biomarker, GeneticVariation
umls:C0033860Psoriasis10Biomarker, GeneticVariation
umls:C0020538Hypertension4Biomarker, GeneticVariation
umls:C0004943Behcet Syndrome2Biomarker

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

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Pharmacological information for ERAP1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ERAP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
BES2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID3mdjAE354 E383
BES2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID3mdjCE354 E383
BES2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID2yd0AQ181 E354 E383
BES2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID3mdjBQ181 E354 E383


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Conservation information for LBS of ERAP1
Multiple alignments for Q9NZ08 in multiple species
LBSAA sequence# speciesSpecies
A318DFQSGAMENWG3Homo sapiens, Mus musculus, Rattus norvegicus
E183AATQFEPTAAR2Mus musculus, Rattus norvegicus
E183ASTQFEPTAAR1Homo sapiens
E320QSGAMENWGLT3Homo sapiens, Mus musculus, Rattus norvegicus
E354MTVAHELAHQW1Homo sapiens
E354MIVSHELAHQW1Mus musculus
E354MTVSHELAHQW1Rattus norvegicus
E376DLWLNEGFAKF3Homo sapiens, Mus musculus, Rattus norvegicus
E383FAKFMEFVSVT2Mus musculus, Rattus norvegicus
E383FAKFMEFVSVS1Homo sapiens
G317PDFQSGAMENW3Homo sapiens, Mus musculus, Rattus norvegicus
H353TMTVAHELAHQ1Homo sapiens
H353TMIVSHELAHQ1Mus musculus
H353TMTVSHELAHQ1Rattus norvegicus
H357SHELAHQWFGN2Mus musculus, Rattus norvegicus
H357AHELAHQWFGN1Homo sapiens
K380NEGFAKFMEFV3Homo sapiens, Mus musculus, Rattus norvegicus
M319FQSGAMENWGL3Homo sapiens, Mus musculus, Rattus norvegicus
Q181ILAATQFEPTA2Mus musculus, Rattus norvegicus
Q181ILASTQFEPTA1Homo sapiens
S316IPDFQSGAMEN3Homo sapiens, Mus musculus, Rattus norvegicus
T350LGITMTVAHEL1Homo sapiens
T350LGITMIVSHEL1Mus musculus
T350LGITMTVSHEL1Rattus norvegicus
Y438FDDVSYDKGAC1Homo sapiens
Y438FDDVSYEKGAC1Mus musculus
Y438FDEVSYEKGAC1Rattus norvegicus


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