Collagen, type XI, alpha 1

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.^[5][6]

COL11A1
Identifiers
Aliases	COL11A1, collagen, type XI, alpha 1, CO11A1, COLL6, STL2, collagen type XI alpha 1, collagen type XI alpha 1 chain, DFNA37
External IDs	OMIM: 120280; MGI: 88446; HomoloGene: 56389; GeneCards: COL11A1; OMA:COL11A1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p21.1 Start 102,876,467 bp[1] End 103,108,872 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F3|3 49.35 cM Start 113,824,189 bp[2] End 114,014,367 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia cartilage tissue periodontal fiber ventricular zone Achilles tendon ganglionic eminence germinal epithelium hair follicle optic nerve visceral pleura Top expressed in body of femur calvaria vestibular sensory epithelium molar human fetus tibiofemoral joint fossa stroma of bone marrow condyle intercostal muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity metal ion binding extracellular matrix binding extracellular matrix structural constituent heparin binding heparan sulfate binding extracellular matrix structural constituent conferring tensile strength Cellular component collagen endoplasmic reticulum lumen collagen type XI trimer extracellular matrix extracellular region collagen-containing extracellular matrix extracellular space Biological process embryonic skeletal system morphogenesis endodermal cell differentiation ossification tendon development skeletal system morphogenesis chondrocyte development heart morphogenesis hearing detection of mechanical stimulus involved in sensory perception of sound ventricular cardiac muscle tissue morphogenesis cartilage development proteoglycan metabolic process inner ear morphogenesis cartilage condensation visual perception extracellular matrix organization collagen fibril organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1301 12814 Ensembl ENSG00000060718 ENSMUSG00000027966 UniProt P12107 Q61245 RefSeq (mRNA) NM_001190709 NM_001854 NM_080629 NM_080630 NM_007729 RefSeq (protein) NP_001177638 NP_001845 NP_542196 NP_542197 NP_031755 Location (UCSC) Chr 1: 102.88 – 103.11 Mb Chr 3: 113.82 – 114.01 Mb PubMed search [3] [4]
Wikidata
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Function

The COL11A1 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. Three transcript variants encoding different isoforms have been identified for this gene.^[6]

Clinical significance

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.^[6]

Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.