MATN1 Gene: Matrilin 1, Cartilage Matrix Protein
A comprehensive guide to MATN1, its function, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | MATN1 |
|---|---|
| Full Name | Matrilin 1, Cartilage Matrix Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.2 |
| NCBI Gene ID | 4142 ncbi.nlm.nih.gov/gene/4142 |
| Ensembl ID | ENSG00000162510 |
| UniProt ID | P21941 |
| OMIM ID | 115437 |
| HGNC ID | 6909 |
| Aliases | CMP, CRTM |
Description
MATN1 encodes matrilin 1, also known as cartilage matrix protein (CMP), a component of the extracellular matrix in cartilage. It forms filamentous networks via interactions with other matrix proteins like collagen II and aggrecan, contributing to the structural integrity of cartilage. The protein is primarily expressed in developing and mature cartilage and is involved in chondrogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Epiphyseal Dysplasia (MED) | Mutations in MATN1 disrupt cartilage matrix assembly, leading to abnormal epiphyseal development. | PMID: 10521291; ClinVar |
| Osteoarthritis | Altered MATN1 expression or structural variants may contribute to cartilage degeneration. | PMID: 10842351; NCBI GeneRIF |
| Chondrodysplasia | Defects in matrilin 1 can impair endochondral ossification, resulting in skeletal abnormalities. | OMIM: 115437 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 48.2 | High |
| Bone | 2.1 | Low |
| Skeletal Muscle | 0.8 | Not detected |
| Heart | 0.5 | Not detected |
| Lung | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 52.1 | Primary articular chondrocytes |
| SW1353 | 0.2 | Chondrosarcoma cell line |
| HeLa | 0.1 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | Rare | Disrupts protein folding and matrix binding |
| c.634G>A (p.Gly212Ser) | Missense | Rare | Reduced secretion and matrix incorporation |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg163Trp) impair protein folding and secretion, reducing functional matrilin 1 in cartilage matrix.
Gain of Function (GOF)
No gain-of-function mutations reported for MATN1.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by interfering with wild-type matrilin 1 assembly into filaments.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • protein binding |
| • collagen binding | • extracellular matrix organization |
| • chondrocyte development | • skeletal system development |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Collagen formation (Reactome: R-HSA-1474290)
• Cartilage development (KEGG: hsa05320)
Protein Summary
Matrilin 1 is a 496-amino-acid protein with a signal peptide, two von Willebrand factor A domains, and a coiled-coil domain. It forms homo-oligomers and hetero-oligomers with other matrilins, binding to collagen II and aggrecan to stabilize the cartilage extracellular matrix. The protein is essential for normal skeletal development and joint function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MATN1 Knockout HEK293 Cell Line | EDJ-KQ5182 | Human | 4146 | Details Get a Quote |
| MATN1 Knockout HeLa Cell Line | EDJ-KQ53844 | Human | 4146 | Details Get a Quote |
| MATN1 Knockout A-549 Cell Line | EDJ-KQ62330 | Human | 4146 | Details Get a Quote |
| MATN1 Knockout HCT 116 Cell Line | EDJ-KQ70803 | Human | 4146 | Details Get a Quote |
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