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.

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 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
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