COL10A1 Gene Summary [Human]
This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COL10A1 |
| Official Name | collagen type X alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2185] |
| Ensembl ID | ENSG00000123500 |
| Bio databases IDs | |
| Aliases | collagen type X alpha 1 chain, Schmid metaphyseal chondrodysplasia |
| Synonyms | CN10, Col10, Collagen Type X, collagen, type X, alpha 1, collagen type X alpha 1 chain, collagen, type X, α 1, collagen type X α 1 chain, Collagen X alpha 1, Collagen X α 1, COL X |
| 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 COL10A1 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
- BclA C-terminal domain
- Collagen triple helix repeat (20 copies)
- protein binding
- C1q domain
Pathways
Biological processes and signaling networks where the COL10A1 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
- age-related macular degeneration
- macular degeneration
- Schmid type metaphyseal chondrodysplasia
- Dupuytren contracture
- Peyronie disease
- organismal death
- hypoplasia
- idiopathic pulmonary fibrosis
- colorectal cancer
- diabetic foot ulcer disorder
role in cell
- proliferation
- migration
- expression in
- invasion by
- differentiation
- number
- abnormal morphology
- endochondral ossification by
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
- cell cortex
- endoplasmic reticulum lumen
- extracellular matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL10A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- extracellular matrix organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen
- extracellular region
- collagen type X
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength