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mutLBSgeneDB |
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| Gene summary for ANPEP |
 Gene summary |
| Basic gene Info. | Gene symbol | ANPEP |
| Gene name | alanyl (membrane) aminopeptidase | |
| Synonyms | APN|CD13|GP150|LAP1|P150|PEPN | |
| Cytomap | UCSC genome browser: 15q25-q26 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001150.2, | |
| Description | AP-MAP-Nalanyl aminopeptidaseaminopeptidase Maminopeptidase NhAPNmicrosomal aminopeptidasemyeloid plasma membrane glycoprotein CD13 | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 151530 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166825 | ||
| HPRD : 01055 | ||
| Vega : OTTHUMG00000149814 | ||
| Protein | UniProt: P15144 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ANPEP | |
| BioGPS: 290 | ||
| Pathway | NCI Pathway Interaction Database: ANPEP | |
| KEGG: ANPEP | ||
| REACTOME: ANPEP | ||
| Pathway Commons: ANPEP | ||
| Context | iHOP: ANPEP | |
| ligand binding site mutation search in PubMed: ANPEP | ||
| UCL Cancer Institute: ANPEP | ||
| 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 |
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| Ligand binding site mutations for ANPEP |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R363 | R363Q | BRCA | 1 | H388 | H388Y | LUAD | 1 | H392 | H392Q | LUSC | 1 | M354 | M354I | SKCM | 1 | H392 | Q393H | STAD | 1 | E411 | E411K | UCEC | 1 | Q213,Q211 | M212T | 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 ANPEP |
| 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 | R363 | R363Q | -1.2457818 | Q211 | M212T | -1.0394163 | Q213 | M212T | -1.0394163 | H392 | Q393H | -0.78342943 | H392 | H392Q | -0.78079127 | M354 | M354I | -0.35616023 | E411 | E411K | -0.34927029 | H388 | H388Y | -0.017498133 |
| (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 ANPEP from PDB |
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| Differential gene expression and gene-gene network for ANPEP |
| 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 ANPEP |
| 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 ANPEP |
| 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 |
| Approved | DB00973 | Ezetimibe | Small molecule |  |
| Approved | DB06196 | Icatibant | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ANPEP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4fyq | A | H388 H392 E411 | ZN | ZINC(2+) | 4fyr | A | H388 H392 E411 | ZN | ZINC(2+) | 4fyt | A | H388 H392 E411 | III | Peptide ligand (VAL,TYR,ILE,HIS,PRO,PHE) | 4fys | A | Q211 Q213 M354 H388 E411 | III | Peptide ligand (L2O,VAL,VAL,ASP) | 4fyt | A | Q211 Q213 M354 R363 H388 H392 E411 | BES | 2-(3-AMINO-2-HYDROXY-4-PHENYL-BUTYRYLAMINO)-4-METHYL-PENTANOIC ACID | 4fyr | A | Q213 H388 H392 E411 |
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| Conservation information for LBS of ANPEP |
| Multiple alignments for P15144 in multiple species |
| LBS | AA sequence | # species | Species | A214 | TTQMQAADARK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A214 | TTQMQAPDARK | 1 | Gallus gallus | A214 | TTQMQSTDARK | 1 | Bos taurus | A351 | LPDFNAGAMEN | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | A353 | DFNAGAMENWG | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | E355 | NAGAMENWGLV | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | E389 | TVIAHELAHQW | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | E411 | DLWLNEGFASY | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | F472 | QISELFDAISY | 1 | Homo sapiens | F472 | QISEVFDSIAY | 1 | Gallus gallus | F472 | QISEMFDTISY | 1 | Bos taurus | F472 | QIMELFDSITY | 1 | Mus musculus | F472 | QISELFDSITY | 1 | Rattus norvegicus | F896 | YGGGSFSFSNL | 2 | Homo sapiens, Bos taurus | F896 | YGGGSFSFANL | 2 | Mus musculus, Rattus norvegicus | F896 | YGGGSFSFSRL | 1 | Gallus gallus | G352 | PDFNAGAMENW | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G894 | NDYGGGSFSFS | 1 | Homo sapiens | G894 | GQYGGGSFSFS | 1 | Gallus gallus | G894 | EDYGGGSFSFS | 1 | Bos taurus | G894 | ENYGGGSFSFA | 1 | Mus musculus | G894 | EDYGGGSFSFA | 1 | Rattus norvegicus | H388 | VTVIAHELAHQ | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | H392 | AHELAHQWFGN | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | M354 | FNAGAMENWGL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | N900 | SFSFANLIQGV | 2 | Mus musculus, Rattus norvegicus | N900 | SFSFSNLIQAV | 1 | Homo sapiens | N900 | SFSFSRLISAV | 1 | Gallus gallus | N900 | SFSFSNLIQGV | 1 | Bos taurus | Q211 | VVATTQMQAAD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q211 | VVATTQMQAPD | 1 | Gallus gallus | Q211 | VLATTQMQSTD | 1 | Bos taurus | Q213 | ATTQMQAADAR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q213 | ATTQMQAPDAR | 1 | Gallus gallus | Q213 | ATTQMQSTDAR | 1 | Bos taurus | Q903 | FANLIQGVTRR | 2 | Mus musculus, Rattus norvegicus | Q903 | FSNLIQAVTRR | 1 | Homo sapiens | Q903 | FSRLISAVTQR | 1 | Gallus gallus | Q903 | FSNLIQGVTRR | 1 | Bos taurus | R363 | GLVTYRENSLL | 2 | Homo sapiens, Gallus gallus | R363 | GLVTYRENALL | 1 | Bos taurus | R363 | GLVTYRESSLV | 1 | Mus musculus | R363 | GLVTYRESALV | 1 | Rattus norvegicus | R381 | SSNKERVVTVI | 2 | Homo sapiens, Bos taurus | R381 | ISNKERVVTVI | 2 | Mus musculus, Rattus norvegicus | R381 | IGNKERVVTVI | 1 | Gallus gallus | R442 | LNDVYRVMAVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R442 | LNELYTVMATD | 1 | Gallus gallus | R442 | PNDVYSVMAVD | 1 | Bos taurus | R907 | IQGVTRRFSSE | 2 | Mus musculus, Rattus norvegicus | R907 | IQAVTRRFSTE | 1 | Homo sapiens | R907 | ISAVTQRFNTE | 1 | Gallus gallus | R907 | IQGVTRRFSTE | 1 | Bos taurus | S469 | TPAQISELFDA | 1 | Homo sapiens | S469 | TPAQISEVFDS | 1 | Gallus gallus | S469 | TPAQISEMFDT | 1 | Bos taurus | S469 | TPDQIMELFDS | 1 | Mus musculus | S469 | TPAQISELFDS | 1 | Rattus norvegicus | S895 | DYGGGSFSFSN | 2 | Homo sapiens, Bos taurus | S895 | QYGGGSFSFSR | 1 | Gallus gallus | S895 | NYGGGSFSFAN | 1 | Mus musculus | S895 | DYGGGSFSFAN | 1 | Rattus norvegicus | S897 | GGGSFSFSNLI | 2 | Homo sapiens, Bos taurus | S897 | GGGSFSFANLI | 2 | Mus musculus, Rattus norvegicus | S897 | GGGSFSFSRLI | 1 | Gallus gallus | V385 | ERVVTVIAHEL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | Y477 | FDSITYSKGAS | 2 | Mus musculus, Rattus norvegicus | Y477 | FDAISYSKGAS | 1 | Homo sapiens | Y477 | FDSIAYSKGAS | 1 | Gallus gallus | Y477 | FDTISYSKGAS | 1 | Bos taurus |
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