KLK7 (Kallikrein Related Peptidase 7)
A serine protease involved in skin desquamation, inflammation, and cancer progression.
Gene Information Card
| Symbol | KLK7 |
|---|---|
| Full Name | Kallikrein Related Peptidase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 5650 ncbi.nlm.nih.gov/gene/5650 |
| Ensembl ID | ENSG00000169035 |
| UniProt ID | P49862 |
| OMIM ID | 604438 |
| HGNC ID | 6369 |
| Aliases | SCCE, hK7, PRSS6 |
Description
KLK7 encodes kallikrein-related peptidase 7, a serine protease primarily expressed in the stratum corneum of the skin. It plays a key role in desquamation by degrading corneodesmosomal proteins. Dysregulation of KLK7 is associated with inflammatory skin disorders (e.g., Netherton syndrome) and several cancers, including ovarian and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Netherton syndrome | Loss-of-function mutations in SPINK5 lead to unopposed KLK7 activity, causing excessive proteolysis and skin barrier defects. | OMIM #256500 |
| Ovarian cancer | KLK7 overexpression promotes tumor invasion and metastasis via extracellular matrix degradation. | ClinVar, COSMIC |
| Breast cancer | Elevated KLK7 expression correlates with poor prognosis and hormone receptor status. | NCBI Gene, PubMed |
| Atopic dermatitis | Increased KLK7 activity contributes to skin barrier dysfunction and inflammation. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 125.8 | High |
| Esophagus | 15.2 | Medium |
| Cervix | 8.4 | Low |
| Prostate | 3.1 | Low |
| Breast | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 45.2 | High expression; used in skin barrier studies |
| A431 (epidermoid carcinoma) | 38.7 | Overexpressed relative to normal skin |
| MCF-7 (breast cancer) | 2.1 | Low expression |
| OVCAR-3 (ovarian cancer) | 22.5 | Moderate expression; associated with invasiveness |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.247G>A (p.Gly83Arg) | Missense | <0.01% | Reduced catalytic activity; reported in Netherton syndrome |
| c.485C>T (p.Thr162Met) | Missense | 0.02% | Unknown functional effect; rare population variant |
| c.1-?_*? (whole gene deletion) | Deletion | Rare | Loss of function; severe skin barrier defects |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., whole gene deletion, missense variants affecting catalytic triad) impair desquamation and lead to skin barrier defects.
Gain of Function (GOF)
Gain-of-function mutations are not well-characterized; overexpression in cancer is primarily transcriptional rather than mutational.
Dominant Negative (DN)
No dominant-negative mutations reported for KLK7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa04610 – Complement and coagulation cascades (indirect)
• Reactome: R-HSA-1474228 – Degradation of the extracellular matrix
• Reactome: R-HSA-6809371 – Formation of the cornified envelope
Protein Summary
KLK7 (hK7) is a 253-amino-acid serine protease with a chymotrypsin-like specificity. It is synthesized as a preproenzyme and activated by proteolytic cleavage. The mature enzyme is secreted and localizes to the extracellular space, where it degrades corneodesmosomal proteins (e.g., desmoglein 1, corneodesmosin) to facilitate skin shedding. In cancer, KLK7 promotes invasion by cleaving components of the extracellular matrix and activating other proteases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLK7 Knockout HEK293 Cell Line | EDJ-KQ50544 | Human | 5650 | Details Get a Quote |
| KLK7 Knockout HeLa Cell Line | EDJ-KQ54232 | Human | 5650 | Details Get a Quote |
| KLK7 Knockout A-549 Cell Line | EDJ-KQ62724 | Human | 5650 | Details Get a Quote |
| KLK7 Knockout HCT 116 Cell Line | EDJ-KQ71196 | Human | 5650 | Details Get a Quote |
