collagen, type XI, alpha 1

Symbol

COL11A1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
col11a1a Danio rerio
Col11a1 Mus musculus
Col11a1 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3067 Gene expression of COL11A1 decreases with age Molecular skin Human COL11A1 —

GO Terms

GO IDGO TermGO Category
GO:0001502 cartilage condensation biological_process
GO:0001503 ossification biological_process
GO:0002063 chondrocyte development biological_process
GO:0003007 heart morphogenesis biological_process
GO:0006029 proteoglycan metabolic process biological_process
GO:0007155 cell adhesion biological_process
GO:0007601 visual perception biological_process
GO:0007605 sensory perception of sound biological_process
GO:0030198 extracellular matrix organization biological_process
GO:0030199 collagen fibril organization biological_process
GO:0042472 inner ear morphogenesis biological_process
GO:0048704 embryonic skeletal system morphogenesis biological_process
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound biological_process
GO:0055010 ventricular cardiac muscle tissue morphogenesis biological_process
GO:0005576 extracellular region cellular_component
GO:0005581 collagen cellular_component
GO:0005592 collagen type XI cellular_component
GO:0005198 structural molecule activity molecular_function
GO:0005201 extracellular matrix structural constituent molecular_function
GO:0030674 protein binding, bridging molecular_function
GO:0050840 extracellular matrix binding molecular_function