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mutLBSgeneDB |
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| Gene summary for ENPEP |
 Gene summary |
| Basic gene Info. | Gene symbol | ENPEP |
| Gene name | glutamyl aminopeptidase (aminopeptidase A) | |
| Synonyms | APA|CD249|gp160 | |
| Cytomap | UCSC genome browser: 4q25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001977.3, | |
| Description | AP-AEAPaminopeptidase Adifferentiation antigen gp160glutamyl aminopeptidase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 138297 | |
| HGNC : HGNC | ||
| HPRD : 08848 | ||
| Protein | UniProt: Q07075 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ENPEP | |
| BioGPS: 2028 | ||
| Pathway | NCI Pathway Interaction Database: ENPEP | |
| KEGG: ENPEP | ||
| REACTOME: ENPEP | ||
| Pathway Commons: ENPEP | ||
| Context | iHOP: ENPEP | |
| ligand binding site mutation search in PubMed: ENPEP | ||
| UCL Cancer Institute: ENPEP | ||
| 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:0003081 | regulation of systemic arterial blood pressure by renin-angiotensin | 19608358 | GO:0008283 | cell proliferation | 14998491 | GO:0016477 | cell migration | 14998491 |
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| Ligand binding site mutations for ENPEP |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R887 | R887G | COAD | 3 | R386 | R386S | GBM | 1 | E223 | P224L | LUSC | 1 | Y479 | I477M | THCA | 1 | F474 | G476V | UCEC | 1 | R887 | R887I | UCEC | 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 ENPEP |
| 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 | R386 | R386S | -1.2747208 | Y479 | I477M | -1.2332178 | R887 | R887G | -1.1623035 | E223 | P224L | -0.47276742 | R887 | R887I | -0.46189236 | F474 | G476V | -0.42868605 |
| (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 ENPEP from PDB |
| PDB ID | PDB title | PDB structure | 4KX7 | Crystal structure of human aminopeptidase A |  |
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| Differential gene expression and gene-gene network for ENPEP |
| 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 ENPEP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ENPEP |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ENPEP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4kxa | A | E223 | CA | CALCIUM(2+) | 4kxd | A | E223 | BES | 2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID | 4kxb | A | E223 F474 Y479 R887 | III | Peptide ligand (L2O,VAL,VAL,ASP) | 4kx8 | A | E223 R386 Y479 R887 | ARG | ARGININE | 4kx9 | A | E223 Y479 R887 | ASP | L-ASPARTIC ACID | 4kxa | A | E223 Y479 R887 | GLU | L-GLUTAMIC ACID | 4kxc | A | E223 Y479 R887 | GLU | L-GLUTAMIC ACID | 4kxd | A | E223 Y479 R887 |
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| Conservation information for LBS of ENPEP |
| Multiple alignments for Q07075 in multiple species |
| LBS | AA sequence | # species | Species | A358 | DFGTGAMENWG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D221 | SIAATDHEPTD | 3 | Mus musculus, Rattus norvegicus, Bos taurus | D221 | SIVATDHEPTD | 1 | Homo sapiens | E223 | AATDHEPTDAR | 3 | Mus musculus, Rattus norvegicus, Bos taurus | E223 | VATDHEPTDAR | 1 | Homo sapiens | E360 | GTGAMENWGLI | 2 | Homo sapiens, Bos taurus | E360 | GTGAMENWGLV | 2 | Mus musculus, Rattus norvegicus | E394 | SVVAHELVHQW | 2 | Mus musculus, Rattus norvegicus | E394 | TVVAHELVHQW | 1 | Homo sapiens | E394 | AVIAHELVHQW | 1 | Bos taurus | E416 | DLWLNEGFASF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F474 | EITSVFDGISY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G357 | PDFGTGAMENW | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H222 | IAATDHEPTDA | 3 | Mus musculus, Rattus norvegicus, Bos taurus | H222 | IVATDHEPTDA | 1 | Homo sapiens | H393 | ASVVAHELVHQ | 2 | Mus musculus, Rattus norvegicus | H393 | ATVVAHELVHQ | 1 | Homo sapiens | H393 | AAVIAHELVHQ | 1 | Bos taurus | H397 | AHELVHQWFGN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | M359 | FGTGAMENWGL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N371 | TYRETNLLYDP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R386 | SSNQQRVASVV | 2 | Mus musculus, Rattus norvegicus | R386 | SSNQQRVATVV | 1 | Homo sapiens | R386 | SSNKQRVAAVI | 1 | Bos taurus | R887 | YTLNNRNLGRI | 2 | Homo sapiens, Bos taurus | R887 | FTINDRYLGRI | 2 | Mus musculus, Rattus norvegicus | T356 | IPDFGTGAMEN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V390 | QRVASVVAHEL | 2 | Mus musculus, Rattus norvegicus | V390 | QRVATVVAHEL | 1 | Homo sapiens | V390 | QRVAAVIAHEL | 1 | Bos taurus | Y479 | FDGISYSKGAS | 3 | Mus musculus, Rattus norvegicus, Bos taurus | Y479 | FDGISYSKGSS | 1 | Homo sapiens |
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