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mutLBSgeneDB |
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| Gene summary for HPN |
 Gene summary |
| Basic gene Info. | Gene symbol | HPN |
| Gene name | hepsin | |
| Synonyms | TMPRSS1 | |
| Cytomap | UCSC genome browser: 19q13.12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002151.2, NM_182983.2, | |
| Description | serine protease hepsintransmembrane protease serine 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 142440 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000105707 | ||
| HPRD : 00801 | ||
| Vega : OTTHUMG00000182474 | ||
| Protein | UniProt: P05981 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HPN | |
| BioGPS: 3249 | ||
| Pathway | NCI Pathway Interaction Database: HPN | |
| KEGG: HPN | ||
| REACTOME: HPN | ||
| Pathway Commons: HPN | ||
| Context | iHOP: HPN | |
| ligand binding site mutation search in PubMed: HPN | ||
| UCL Cancer Institute: HPN | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006508 | proteolysis | 16908524 | GO:0010719 | negative regulation of epithelial to mesenchymal transition | 19843851 | GO:0010756 | positive regulation of plasminogen activation | 16908524 | GO:0034769 | basement membrane disassembly | 16908524 | GO:0043066 | negative regulation of apoptotic process | 15614436 | GO:0043923 | positive regulation by host of viral transcription | 15614436 | GO:0050680 | negative regulation of epithelial cell proliferation | 19843851 | GO:2000347 | positive regulation of hepatocyte proliferation | 15614436 |
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| Ligand binding site mutations for HPN |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y243 | G241W | LUAD | 1 | S376 | S376I | LUSC | 1 | Q331 | I332M | OV | 1 | V389 | V389I | PRAD | 1 | C188 | G190R | SKCM | 1 | P206 | R208Q | SKCM | 1 | G351,S353 | D352N | SKCM | 1 | P206 | R208Q | 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 HPN |
| 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 | Y243 | G241W | 0.21860032 | P206 | R208Q | -1.4125549 | V389 | V389I | -1.4111561 | Q331 | I332M | -1.2569264 | G351 | D352N | -1.0077187 | S353 | D352N | -1.0077187 | S376 | S376I | -0.54741096 | C188 | G190R | -0.036037373 |
| (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 HPN from PDB |
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| Differential gene expression and gene-gene network for HPN |
| 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 HPN |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033578 | Prostatic Neoplasms | 9 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0023794 | Lipidoses | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HPN |
| 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 | DB00036 | Coagulation factor VIIa Recombinant Human | Biotech |  |
| Withdrawn | DB00522 | Bentiromide | Small molecule |  |
| Experimental | DB03297 | Benzylsulfinic Acid | Small molecule |  |
| Experimental | DB03643 | CRA_1144 | Small molecule |  |
| Experimental | DB03865 | 6-Chloro-2-(2-Hydroxy-Biphenyl-3-Yl)-1h-Indole-5-Carboxamidine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HPN go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ACE,LYS,GLN,LEU,ARG,0QE) | 1z8g | A | Y243 Q331 G351 S353 S376 |
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| Conservation information for LBS of HPN |
| Multiple alignments for P05981 in multiple species |
| LBS | AA sequence | # species | Species | A348 | EGGIDACQGDS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A382 | WGTGCALARKP | 2 | Mus musculus, Rattus norvegicus | A382 | WGTGCALAQKP | 1 | Homo sapiens | C188 | DGTHLCGGSLL | 2 | Mus musculus, Rattus norvegicus | C188 | DGAHLCGGSLL | 1 | Homo sapiens | C204 | LTAAHCFPERN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C349 | GGIDACQGDSG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C381 | SWGTGCALARK | 2 | Mus musculus, Rattus norvegicus | C381 | SWGTGCALAQK | 1 | Homo sapiens | D347 | PEGGIDACQGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E252 | RDPTIDENSND | 2 | Mus musculus, Rattus norvegicus | E252 | RDPNSEENSND | 1 | Homo sapiens | G351 | IDACQGDSGGP | 2 | Homo sapiens, Mus musculus | G351 | IDACQGDSGGH | 1 | Rattus norvegicus | G378 | GIVSWGTGCAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G380 | VSWGTGCALAR | 2 | Mus musculus, Rattus norvegicus | G380 | VSWGTGCALAQ | 1 | Homo sapiens | G388 | LARKPGVYTKV | 2 | Mus musculus, Rattus norvegicus | G388 | LAQKPGVYTKV | 1 | Homo sapiens | H203 | VLTAAHCFPER | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L187 | YDGTHLCGGSL | 2 | Mus musculus, Rattus norvegicus | L187 | YDGAHLCGGSL | 1 | Homo sapiens | N254 | PTIDENSNDIA | 2 | Mus musculus, Rattus norvegicus | N254 | PNSEENSNDIA | 1 | Homo sapiens | P206 | AAHCFPERNRV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P387 | ALARKPGVYTK | 2 | Mus musculus, Rattus norvegicus | P387 | ALAQKPGVYTK | 1 | Homo sapiens | Q331 | DFYGNQIKPKM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q350 | GIDACQGDSGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S353 | ACQGDSGGPFV | 2 | Homo sapiens, Mus musculus | S353 | ACQGDSGGHFV | 1 | Rattus norvegicus | S376 | LCGIVSWGTGC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T379 | IVSWGTGCALA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V375 | RLCGIVSWGTG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V389 | AQKPGVYTKVS | 1 | Homo sapiens | V389 | ARKPGVYTKVT | 1 | Mus musculus | V389 | ARKPGVYTKVI | 1 | Rattus norvegicus | W377 | CGIVSWGTGCA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y243 | IYHGGYLPFRD | 2 | Mus musculus, Rattus norvegicus | Y243 | VYHGGYLPFRD | 1 | Homo sapiens | Y301 | WGNTQFYGQQA | 2 | Mus musculus, Rattus norvegicus | Y301 | WGNTQYYGQQA | 1 | Homo sapiens |
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