COL23A1 Gene Summary [Human]
COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | COL23A1 |
| Official Name | collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990] |
| Ensembl ID | ENSG00000050767 |
| Bio databases IDs | |
| Aliases | collagen type XXIII alpha 1 chain |
| Synonyms | 2810458L13RIK, collagen, type XXIII, alpha 1, collagen type XXIII alpha 1 chain, collagen, type XXIII, α 1, collagen type XXIII α 1 chain, Collagen xxiii, LOC100910384, LOC103693323 |
| 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 COL23A1 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
- heparin binding
- identical protein binding
Pathways
Biological processes and signaling networks where the COL23A1 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
- epithelial cancer
- papillary thyroid cancer
- Dupuytren contracture
- androgenic alopecia
- cardioembolic stroke
- prostatic carcinoma
- prostate cancer
- Peyronie disease
- insomnia
- male pattern hair loss
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- Extracellular Space
- Golgi Apparatus
- endoplasmic reticulum lumen
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL23A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- extracellular matrix organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- basement membrane
- collagen
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- extracellular matrix structural constituent conferring tensile strength
- heparin binding