KLK6 (Kallikrein Related Peptidase 6)
A serine protease implicated in neurodegeneration and cancer progression
Gene Information Card
| Symbol | KLK6 |
|---|---|
| Full Name | Kallikrein Related Peptidase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 5653 ncbi.nlm.nih.gov/gene/5653 |
| Ensembl ID | ENSG00000167751 |
| UniProt ID | Q92876 |
| OMIM ID | 602652 |
| HGNC ID | 6367 |
| Aliases | PRSS18, PRSS9, SP59, MTR1, neurosin, protease M |
Description
KLK6 encodes a serine protease of the kallikrein family. The protein is secreted and involved in extracellular matrix remodeling, proteolytic cascades, and processing of amyloid precursor protein. It is expressed in the central nervous system and various epithelial tissues. Dysregulation is linked to Alzheimer disease and multiple cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | KLK6 degrades amyloid-beta; reduced activity may contribute to plaque accumulation | PMID: 12058033; NCBI GeneRIF |
| Breast cancer | Overexpression promotes invasion and metastasis via ECM degradation | PMID: 16982746; COSMIC |
| Ovarian cancer | Elevated serum KLK6 is a diagnostic and prognostic biomarker | PMID: 12644963; ClinVar |
| Colorectal cancer | Upregulation correlates with poor survival and lymph node metastasis | PMID: 21761139; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Breast | 3.2 | Low |
| Ovary | 8.9 | Medium |
| Prostate | 6.1 | Low |
| Colon | 4.5 | Low |
| Kidney | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| MCF-7 (breast cancer) | 7.2 | ER+ breast cancer line |
| OVCAR-3 (ovarian cancer) | 22.1 | High expression |
| HT-29 (colorectal cancer) | 9.8 | Adenocarcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.485G>A (p.Arg162Gln) | Missense | <0.01% | Reduced catalytic activity; ClinVar |
| c.532C>T (p.Arg178Trp) | Missense | <0.01% | Unknown significance; ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense variants affecting catalytic triad (e.g., p.Arg162Gln) reduce proteolytic activity.
Gain of Function (GOF)
Not well documented; overexpression in cancer is transcriptional rather than mutational.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • proteolysis (GO:0006508) |
| • extracellular space (GO:0005615) | • amyloid-beta binding (GO:0001540) |
| • regulation of cell migration (GO:0030334) |
Pathways
• Kallikrein-kinin system (Reactome: R-HSA-375276)
• Degradation of extracellular matrix (Reactome: R-HSA-1474228)
• Alzheimer disease-amyloid plaque formation (KEGG: hsa05010)
Protein Summary
KLK6 (kallikrein 6) is a 244-amino-acid secreted serine protease with a trypsin-like fold. It is synthesized as a preproprotein and activated by proteolytic cleavage. The enzyme cleaves substrates such as amyloid precursor protein, fibronectin, and collagen. It is highly expressed in the brain and implicated in neurodegeneration and tumor invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLK6 Knockout HEK293 Cell Line | EDJ-KQ5559 | Human | 5653 | Details Get a Quote |
| KLK6 Knockout HCT 116 Cell Line | EDJ-KQ28825 | Human | 5653 | Details Get a Quote |
| KLK6 Knockout HeLa Cell Line | EDJ-KQ54235 | Human | 5653 | Details Get a Quote |
| KLK6 Knockout A-549 Cell Line | EDJ-KQ62727 | Human | 5653 | Details Get a Quote |
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