MATN1 Gene Summary [Human]
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MATN1 |
| Official Name | matrilin 1 [Source:HGNC Symbol;Acc:HGNC:6907] |
| Ensembl ID | ENSG00000162510 |
| Bio databases IDs | |
| Aliases | matrilin 1 |
| Synonyms | CMP, CRTM, Mat1, Matrilin-1, matrilin 1, cartilage matrix protein |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MATN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- von Willebrand factor (vWF) type A domain
- Trimeric coiled-coil oligomerization domain of matrilin
- vWFA
- extracellular matrix structural constituent
- coiled-coil domain
- von Willebrand factor type A domain
- protein binding
- Coagulation Factor Xa inhibitory site
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cell-associated matrix
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MATN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- macromolecular complex assembly
- growth plate cartilage chondrocyte morphogenesis
- extracellular matrix organization
- regulation of bone mineralization
Cellular Component
Where in the cell the gene product is active
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- extracellular matrix structural constituent