COL21A1 Gene Summary [Human]
This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | COL21A1 |
| Official Name | collagen type XXI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:17025] |
| Ensembl ID | ENSG00000124749 |
| Bio databases IDs | |
| Aliases | collagen type XXI alpha 1 chain |
| Synonyms | COLA1L, collagen type XXI alpha 1 chain, collagen type XXI α 1 chain, FP633 |
| Species | Human, Homo sapiens |
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 COL21A1 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
- LamG
- vWFA
- Collagen triple helix repeat (20 copies)
- von Willebrand factor type A domain
Pathways
Biological processes and signaling networks where the COL21A1 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
- small cell lung cancer
- burn
- Peyronie disease
- Dupuytren contracture
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
- psychosis
- Ullrich congenital muscular dystrophy
- abdominal aortic aneurysm
- schizophrenia
regulated by
- sirolimus
- IGFBP2
- oxygen
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
- cytosol
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL21A1 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- collagen
- cytosol
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring tensile strength