COL8A1 Gene Summary [Human]
This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
Details
| Type | Processed Transcript |
| Official Symbol | COL8A1 |
| Official Name | collagen type VIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2215] |
| Ensembl ID | ENSG00000144810 |
| Bio databases IDs | |
| Aliases | collagen type VIII alpha 1 chain |
| Synonyms | C3orf7, collagen, type VIII, alpha 1, collagen type VIII alpha 1 chain, collagen, type VIII, α 1, collagen type VIII α 1 chain |
| 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 COL8A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Collagen triple helix repeat (20 copies)
- protein binding
- C1q domain
Pathways
Biological processes and signaling networks where the COL8A1 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.
disease
- COVID-19
- chronic obstructive pulmonary disease
- Dupuytren contracture
- Peyronie disease
- burn
- androgenic alopecia
- age-related macular degeneration
- inguinal hernia
- diabetes mellitus
- HER2 negative hormone receptor negative breast cancer
role in cell
- proliferation
- abnormal morphology
- size
- thickness
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
- endoplasmic reticulum lumen
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL8A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- camera-type eye morphogenesis
- angiogenesis
- endodermal cell differentiation
- extracellular matrix organization
- endothelial cell proliferation
- cell adhesion
- positive regulation of cell-substrate adhesion
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen type VIII
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent conferring tensile strength