MMP7 Gene (Matrix Metallopeptidase 7)
Matrilysin, a key enzyme in extracellular matrix remodeling and cancer progression
Gene Information Card
| Symbol | MMP7 |
|---|---|
| Full Name | Matrix Metallopeptidase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q22.2 |
| NCBI Gene ID | 4316 ncbi.nlm.nih.gov/gene/4316 |
| Ensembl ID | ENSG00000137673 |
| UniProt ID | P09237 |
| OMIM ID | 178990 |
| HGNC ID | 7174 |
| Aliases | MMP-7, MPSL1, PUMP-1, matrilysin |
Description
MMP7 (matrix metallopeptidase 7) encodes matrilysin, a member of the matrix metalloproteinase (MMP) family involved in the breakdown of extracellular matrix components such as fibronectin, laminin, and collagen IV. It is secreted as a zymogen and activated by proteolytic cleavage. MMP7 plays roles in tissue remodeling, wound healing, and tumor invasion. Overexpression is linked to various cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression of MMP7 promotes tumor invasion and metastasis by degrading basement membrane components. | ClinVar, COSMIC |
| Gastric Cancer | Elevated MMP7 expression correlates with poor prognosis and lymph node metastasis. | NCBI Gene, PubMed |
| Rheumatoid Arthritis | MMP7 contributes to cartilage degradation and joint inflammation. | UniProt, OMIM |
| Atherosclerosis | MMP7-mediated matrix remodeling destabilizes atherosclerotic plaques. | UniProt, PubMed |
| Chronic Obstructive Pulmonary Disease (COPD) | Increased MMP7 activity leads to alveolar wall destruction. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 8.5 | Medium |
| Colon | 7.2 | Medium |
| Stomach | 6.1 | Medium |
| Lung | 4.3 | Low |
| Breast | 3.8 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.0 | Moderate expression |
| HCT116 (colorectal carcinoma) | 12.3 | High expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | Very low expression |
| K562 (leukemia) | 0.8 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.115G>A (p.Gly39Ser) | missense | <0.01% | Unknown effect; rare variant |
| c.200C>T (p.Thr67Ile) | missense | <0.01% | Unknown effect; rare variant |
| c.445G>A (p.Gly149Arg) | missense | <0.01% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Met1?) may disrupt protein synthesis or catalytic activity.
Gain of Function (GOF)
Not well documented; overexpression is more common than activating mutations.
Dominant Negative (DN)
Not reported for MMP7.
View complete mutation data:
Gene Ontology (GO)
| • metalloendopeptidase activity | • zinc ion binding |
| • extracellular matrix disassembly | • proteolysis |
| • extracellular space | • collagen catabolic process |
Pathways
• Matrix Metalloproteinases (MMPs) pathway
• Degradation of the extracellular matrix
• Collagen degradation
Protein Summary
Matrilysin (MMP7) is a 267-amino acid zinc-dependent endopeptidase with a catalytic domain and a propeptide region. It is the smallest MMP and lacks a hemopexin-like domain. The enzyme is secreted as an inactive proenzyme and activated by proteolytic cleavage. It degrades fibronectin, laminin, collagen IV, and elastin. MMP7 is implicated in tumor invasion, metastasis, and inflammatory tissue destruction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP7 Knockout HEK293 Cell Line | EDJ-KQ114 | Human | 4316 | Details Get a Quote |
| MMP7 Knockout A-549 Cell Line | EDJ-KQ18454 | Human | 4316 | Details Get a Quote |
| MMP7 Knockout HCT 116 Cell Line | EDJ-KQ18456 | Human | 4316 | Details Get a Quote |
| MMP7 Knockout HeLa Cell Line | EDJ-KQ53883 | Human | 4316 | Details Get a Quote |