COL19A1 Gene Summary [Human]
This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COL19A1 |
| Official Name | collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196] |
| Ensembl ID | ENSG00000082293 |
| Bio databases IDs | |
| Aliases | collagen type XIX alpha 1 chain |
| Synonyms | COL9A1L, COLLAGEN type XIX, collagen, type XIX, alpha 1, collagen type XIX alpha 1 chain, collagen, type XIX, α 1, collagen type XIX α 1 chain, D6S228E |
| 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 COL19A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NC1 domain
- LamG
- Collagen triple helix repeat (20 copies)
Pathways
Biological processes and signaling networks where the COL19A1 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.
binds
- collagenase
- CAND1
disease
- diabetic foot ulcer disorder
- Dupuytren contracture
- cellulite of the buttocks
- seizures
- neuroticism
- Peyronie disease
- diabetic nephropathy
- weight loss
- attention deficit hyperactivity disorder
- dysphagia
role in cell
- assembly
- number
- organization
- assembly in
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
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL19A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- skeletal muscle tissue development
- extracellular matrix organization
- cell differentiation
- cell adhesion
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring tensile strength
- protein binding, bridging
- extracellular matrix structural constituent