COL6A5 Gene Summary [Human]
This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | COL6A5 |
| Official Name | collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674] |
| Ensembl ID | ENSG00000172752 |
| Bio databases IDs | |
| Aliases | collagen type VI alpha 5 chain, von Willebrand factor A domain containing 4 |
| Synonyms | COL29A1, collagen, type VI, alpha 5, collagen type VI alpha 5 chain, collagen, type VI, α 5, collagen type VI α 5 chain, EG665033, Gm7455, LOC100503293, RGD1307220, RGD1565804, VWA4 |
| 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 COL6A5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular matrix structural constituent conferring tensile strength
- von Willebrand factor (vWF) type A domain
- vWFA
- Collagen triple helix repeat (20 copies)
- von Willebrand factor type A domain
- Proline-rich protein
- protein binding
Pathways
Biological processes and signaling networks where the COL6A5 gene in human plays a role, providing insight into its function and relevance in health or disease.
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
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL6A5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell adhesion
Cellular Component
Where in the cell the gene product is active
- collagen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent conferring tensile strength