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mutLBSgeneDB |
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| Gene summary for ERAP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ERAP1 |
| Gene name | endoplasmic reticulum aminopeptidase 1 | |
| Synonyms | A-LAP|ALAP|APPILS|ARTS-1|ARTS1|ERAAP|ERAAP1|PILS-AP|PILSAP | |
| Cytomap | UCSC genome browser: 5q15 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001040458.1, NM_001198541.1,NM_016442.3, | |
| Description | adipocyte-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 date | 20141207 | |
| dbXrefs | MIM : 606832 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164307 | ||
| HPRD : 06015 | ||
| Vega : OTTHUMG00000128721 | ||
| Protein | UniProt: Q9NZ08 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ERAP1 | |
| BioGPS: 51752 | ||
| Pathway | NCI Pathway Interaction Database: ERAP1 | |
| KEGG: ERAP1 | ||
| REACTOME: ERAP1 | ||
| Pathway Commons: ERAP1 | ||
| Context | iHOP: ERAP1 | |
| ligand binding site mutation search in PubMed: ERAP1 | ||
| UCL Cancer Institute: ERAP1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006509 | membrane protein ectodomain proteolysis | 12748171 |
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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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E354 | L355V | BRCA | 1 | E383 | E383K | COAD | 1 | Q181 | S179L | HNSC | 1 |
| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | E383 | E383K | -1.1103314 | E354 | L355V | -0.79333677 | Q181 | S179L | -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) |
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| Phenotype information for ERAP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0038013 | Spondylitis, Ankylosing | 50 | Biomarker, GeneticVariation |
| umls:C0033860 | Psoriasis | 10 | Biomarker, GeneticVariation |
| umls:C0020538 | Hypertension | 4 | Biomarker, GeneticVariation |
| umls:C0004943 | Behcet Syndrome | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ERAP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | BES | 2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID | 3mdj | A | E354 E383 | BES | 2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID | 3mdj | C | E354 E383 | BES | 2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID | 2yd0 | A | Q181 E354 E383 | BES | 2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID | 3mdj | B | Q181 E354 E383 |
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| Conservation information for LBS of ERAP1 |
| Multiple alignments for Q9NZ08 in multiple species |
| LBS | AA sequence | # species | Species | A318 | DFQSGAMENWG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E183 | AATQFEPTAAR | 2 | Mus musculus, Rattus norvegicus | E183 | ASTQFEPTAAR | 1 | Homo sapiens | E320 | QSGAMENWGLT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E354 | MTVAHELAHQW | 1 | Homo sapiens | E354 | MIVSHELAHQW | 1 | Mus musculus | E354 | MTVSHELAHQW | 1 | Rattus norvegicus | E376 | DLWLNEGFAKF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E383 | FAKFMEFVSVT | 2 | Mus musculus, Rattus norvegicus | E383 | FAKFMEFVSVS | 1 | Homo sapiens | G317 | PDFQSGAMENW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H353 | TMTVAHELAHQ | 1 | Homo sapiens | H353 | TMIVSHELAHQ | 1 | Mus musculus | H353 | TMTVSHELAHQ | 1 | Rattus norvegicus | H357 | SHELAHQWFGN | 2 | Mus musculus, Rattus norvegicus | H357 | AHELAHQWFGN | 1 | Homo sapiens | K380 | NEGFAKFMEFV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M319 | FQSGAMENWGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q181 | ILAATQFEPTA | 2 | Mus musculus, Rattus norvegicus | Q181 | ILASTQFEPTA | 1 | Homo sapiens | S316 | IPDFQSGAMEN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T350 | LGITMTVAHEL | 1 | Homo sapiens | T350 | LGITMIVSHEL | 1 | Mus musculus | T350 | LGITMTVSHEL | 1 | Rattus norvegicus | Y438 | FDDVSYDKGAC | 1 | Homo sapiens | Y438 | FDDVSYEKGAC | 1 | Mus musculus | Y438 | FDEVSYEKGAC | 1 | Rattus norvegicus |
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