COL11A1 Gene Summary [Human]
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | COL11A1 |
| Official Name | collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186] |
| Ensembl ID | ENSG00000060718 |
| Bio databases IDs | |
| Aliases | collagen type XI alpha 1 chain, collagen XI, alpha-1 polypeptide |
| Synonyms | C530001D20RIK, cho, CO11A1, COLL6, collagen, type XI, alpha 1, collagen type XI alpha 1 chain, collagen, type XI, α 1, collagen type XI α 1 chain, DFNA37, STL2 |
| 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 COL11A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Concanavalin A-like lectin/glucanases superfamily
- triple helical domain
- P6b region
- binding protein
- Fibrillar collagen C-terminal domain
- LamG
- extracellular matrix structural constituent
- Collagen triple helix repeat (20 copies)
- amino-propeptide domain
- heparin binding
- glycosaminoglycan binding
- major triple helix
Pathways
Biological processes and signaling networks where the COL11A1 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
- lung cancer
- cancer
- neoplasia
- gastric cancer
- hepatocellular carcinoma
- pervasive developmental disorder
- liver cancer
- Dupuytren contracture
- Marshall syndrome
role in cell
- expression in
- phosphorylation in
- proliferation
- invasion by
- migration
- binding in
- invasion
- organization
- development
- metastatic potential
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
- extracellular matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL11A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ventricular cardiac muscle tissue morphogenesis
- chondrocyte development
- visual perception
- proteoglycan metabolic process
- embryonic skeletal system morphogenesis
- sensory perception of sound
- cartilage condensation
- ossification
- inner ear morphogenesis
- extracellular matrix organization
- endodermal cell differentiation
- tendon development
- collagen fibril organization
- detection of mechanical stimulus involved in sensory perception of sound
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen type XI
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength
- heparin binding
- protein binding, bridging
- extracellular matrix structural constituent