HPN (Hepsin) Gene
Transmembrane serine protease involved in cell growth, coagulation, and cancer progression
Gene Information Card
| Symbol | HPN |
|---|---|
| Full Name | Hepsin |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 3249 ncbi.nlm.nih.gov/gene/3249 |
| Ensembl ID | ENSG00000105707 |
| UniProt ID | P05981 |
| OMIM ID | 142440 |
| HGNC ID | 5155 |
| Aliases | TMPRSS1, HPN1 |
Description
HPN encodes hepsin, a type II transmembrane serine protease expressed primarily in the liver and prostate. Hepsin plays a role in cell growth, maintenance of cell morphology, and blood coagulation by activating factor VII. Overexpression is associated with prostate cancer progression and poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of HPN leads to increased cell invasion and metastasis via activation of matriptase and other substrates. | PMID: 11526490, PMID: 14660795 |
| Hepatocellular carcinoma | HPN upregulation correlates with tumor aggressiveness and poor survival. | PMID: 16982746 |
| Coagulation disorders | Hepsin activates factor VII, contributing to the extrinsic coagulation pathway; dysregulation may affect hemostasis. | PMID: 10578056 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 52.3 | High |
| Prostate | 38.1 | High |
| Kidney | 12.4 | Medium |
| Lung | 5.2 | Low |
| Breast | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 45.6 | Liver cancer cell line |
| LNCaP | 32.8 | Prostate cancer cell line |
| PC-3 | 28.4 | Prostate cancer cell line |
| MCF7 | 3.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417Gln) | Missense | <0.01% | Reported in ClinVar as uncertain significance; may affect protease activity. |
| c.1129C>T (p.Arg377Trp) | Missense | <0.01% | Likely benign; no functional data. |
| c.1465G>A (p.Glu489Lys) | Missense | <0.01% | Uncertain significance; observed in cancer samples. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for HPN.
Gain of Function (GOF)
Overexpression and amplification in prostate cancer suggest gain-of-function at expression level, but no specific activating mutations are documented.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • extracellular matrix disassembly | • cell surface receptor signaling pathway |
| • blood coagulation |
Pathways
• Extrinsic coagulation pathway
• Prostate cancer signaling
Protein Summary
Hepsin is a 417-amino acid type II transmembrane serine protease with a short cytoplasmic domain, a transmembrane domain, and an extracellular serine protease domain. It is synthesized as a zymogen and activated by cleavage. Hepsin is anchored to the plasma membrane and can be shed into the extracellular space. It activates pro-hepatocyte growth factor (pro-HGF) and pro-macrophage stimulating protein (pro-MSP), promoting cell scattering and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPN Knockout HEK293 Cell Line | EDJ-KQ4930 | Human | 3249 | Details Get a Quote |
| RHPN2 Knockout HEK293 Cell Line | EDJ-KQ10353 | Human | 85415 | Details Get a Quote |
| RHPN2 Knockout A-549 Cell Line | EDJ-KQ37668 | Human | 85415 | Details Get a Quote |
| RHPN2 Knockout HCT 116 Cell Line | EDJ-KQ37669 | Human | 85415 | Details Get a Quote |
| RHPN2 Knockout HeLa Cell Line | EDJ-KQ37670 | Human | 85415 | Details Get a Quote |
| HPN Knockout HeLa Cell Line | EDJ-KQ53566 | Human | 3249 | Details Get a Quote |
| HPN Knockout A-549 Cell Line | EDJ-KQ62033 | Human | 3249 | Details Get a Quote |
| HPN Knockout HCT 116 Cell Line | EDJ-KQ70515 | Human | 3249 | Details Get a Quote |
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