GZMK (Granzyme K)
A serine protease involved in immune cell-mediated cytotoxicity and inflammation
Gene Information Card
| Symbol | GZMK |
|---|---|
| Full Name | Granzyme K |
| Gene Type | protein-coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 3003 ncbi.nlm.nih.gov/gene/3003 |
| Ensembl ID | ENSG00000113088 |
| UniProt ID | P49863 |
| OMIM ID | 600781 |
| HGNC ID | 4711 |
| Aliases | CTLA-1, GZMK, granzyme K (granzyme 3; granzyme K; serine protease; cytotoxic T-lymphocyte-associated serine esterase 1) |
Description
GZMK encodes granzyme K, a serine protease expressed primarily in cytotoxic T lymphocytes and natural killer cells. It is involved in immune-mediated target cell death by inducing apoptosis through caspase-independent pathways and contributes to inflammation and antiviral responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | Granzyme K is elevated in synovial fluid and contributes to joint inflammation and tissue damage via extracellular matrix degradation and cytokine activation. | PubMed: 31548615 |
| Chronic Obstructive Pulmonary Disease (COPD) | Increased granzyme K levels in lung tissue and sputum correlate with inflammation and airway remodeling. | PubMed: 29555724 |
| Viral Infections (e.g., Influenza, HIV) | Granzyme K mediates antiviral cytotoxicity and modulates immune responses; elevated levels observed during active infection. | PubMed: 25609839 |
| Cancer (various) | Granzyme K expression in tumor-infiltrating lymphocytes may influence anti-tumor immunity; altered expression linked to prognosis. | PubMed: 31004066 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph Node | 10.8 | Medium |
| Bone Marrow | 8.2 | Low |
| Lung | 6.1 | Low |
| Small Intestine | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 (NK cell line) | 45.2 | High expression |
| Jurkat (T cell line) | 22.7 | Moderate expression |
| K-562 (leukemia) | 3.1 | Low expression |
| HeLa (cervical cancer) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236G>A (p.Arg79His) | Missense | <0.01% | Reported in ClinVar; functional impact unknown |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Likely benign; no known disease association |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Potential loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Rare start-loss and nonsense variants may lead to reduced or absent granzyme K activity, potentially impairing cytotoxic function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GZMK.
Dominant Negative (DN)
No dominant-negative mutations have been described for GZMK.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Granzyme-mediated apoptosis pathway (Reactome: R-HSA-168256)
• Natural killer cell mediated cytotoxicity (KEGG: hsa04650)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
Protein Summary
Granzyme K is a 28 kDa serine protease stored in the cytotoxic granules of natural killer cells and cytotoxic T lymphocytes. Upon target cell recognition, it is released via exocytosis and enters target cells to induce rapid, caspase-independent cell death. It also has extracellular roles in inflammation by cleaving extracellular matrix components and activating cytokines. Its expression is tightly regulated and dysregulated in several inflammatory and malignant conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GZMK Knockout HEK293 Cell Line | EDJ-KQ4824 | Human | 3003 | Details Get a Quote |
| GZMK Knockout HeLa Cell Line | EDJ-KQ53473 | Human | 3003 | Details Get a Quote |
| GZMK Knockout A-549 Cell Line | EDJ-KQ61945 | Human | 3003 | Details Get a Quote |
| GZMK Knockout HCT 116 Cell Line | EDJ-KQ70426 | Human | 3003 | Details Get a Quote |
