COL11A1
Collagen Type XI Alpha 1 Chain
Gene Information Card
| Symbol | COL11A1 |
|---|---|
| Full Name | Collagen Type XI Alpha 1 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.1 |
| NCBI Gene ID | 1301 ncbi.nlm.nih.gov/gene/1301 |
| Ensembl ID | ENSG00000060718 |
| UniProt ID | P12107 |
| OMIM ID | 120280 |
| HGNC ID | 2186 |
| Aliases | CO11A1, STL2, COLL6, MGC131804 |
Description
COL11A1 encodes the alpha-1 chain of type XI collagen, a minor fibrillar collagen that co-assembles with type II and type IX collagens to form heterotypic fibrils in cartilage and other connective tissues. It is essential for normal skeletal development, hearing, and vision. Mutations in COL11A1 are associated with Marshall syndrome, Stickler syndrome type II, and fibrochondrogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Marshall syndrome | Missense or splice-site mutations disrupt collagen fibril assembly, leading to craniofacial abnormalities, hearing loss, and ocular defects. | OMIM #154780 |
| Stickler syndrome type II | Loss-of-function or dominant-negative mutations impair type XI collagen structure, causing vitreoretinal degeneration, hearing loss, and arthropathy. | OMIM #604841 |
| Fibrochondrogenesis | Biallelic loss-of-function mutations result in severe skeletal dysplasia, short stature, and lethal neonatal dwarfism. | OMIM #228520 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | High |
| Lung | 3.2 | Medium |
| Spleen | 1.8 | Low |
| Testis | 1.5 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SW1353 (chondrosarcoma) | 8.7 | High expression |
| A549 (lung carcinoma) | 2.1 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3463G>A (p.Gly1155Ser) | Missense | Rare | Dominant-negative effect; associated with Marshall syndrome |
| c.1630C>T (p.Arg544*) | Nonsense | Rare | Loss of function; causes fibrochondrogenesis |
| c.282+1G>A | Splice site | Rare | Exon skipping; leads to Stickler syndrome type II |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that produce truncated or unstable protein, leading to haploinsufficiency or biallelic loss in fibrochondrogenesis.
Gain of Function (GOF)
Not reported for COL11A1.
Dominant Negative (DN)
Missense mutations in the triple-helical domain (e.g., Gly substitutions) disrupt collagen folding and fibril assembly, exerting a dominant-negative effect in Marshall and Stickler syndromes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome R-HSA-1650814)
• Assembly of collagen fibrils and other multimeric structures (Reactome R-HSA-2022090)
• ECM proteoglycans (KEGG hsa04512)
Protein Summary
The COL11A1 protein (1818 amino acids) is a preprocollagen that undergoes post-translational hydroxylation and glycosylation before forming homotrimers or heterotrimers with other collagen chains. It is a key component of the cartilage extracellular matrix, providing tensile strength and structural integrity. Mutations affecting the Gly-X-Y repeat motif in the triple-helical domain are particularly pathogenic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL11A1 Knockout HEK293 Cell Line | EDJ-KQ4309 | Human | 1301 | Details Get a Quote |
| COL11A1 Knockout A-549 Cell Line | EDJ-KQ26798 | Human | 1301 | Details Get a Quote |
| COL11A1 Knockout HeLa Cell Line | EDJ-KQ52954 | Human | 1301 | Details Get a Quote |
| COL11A1 Knockout HCT 116 Cell Line | EDJ-KQ69920 | Human | 1301 | Details Get a Quote |
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