Collagen, type IX, alpha 1

Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene.^[5][6]

COL9A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2UUR
Identifiers
Aliases	COL9A1, DJ149L1.1.2, EDM6, MED, STL4, collagen type IX alpha 1, collagen type IX alpha 1 chain
External IDs	OMIM: 120210; MGI: 88465; HomoloGene: 1393; GeneCards: COL9A1; OMA:COL9A1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q13 Start 70,216,040 bp[1] End 70,303,084 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 A5|1 9.95 cM Start 24,216,691 bp[2] End 24,291,765 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia cartilage tissue ventricular zone sperm ganglionic eminence Epithelium of choroid plexus Amygdala gonad caudate nucleus cingulate gyrus Top expressed in vestibular sensory epithelium human fetus condyle fossa saccule calvaria mandibular prominence phalanx of finger lesser wing of sphenoid bone utricle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent conferring tensile strength metal ion binding extracellular matrix structural constituent Cellular component collagen type IX trimer extracellular region collagen endoplasmic reticulum lumen extracellular space extracellular matrix collagen-containing extracellular matrix Biological process animal organ morphogenesis extracellular matrix organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1297 12839 Ensembl ENSG00000112280 ENSMUSG00000026147 UniProt P20849 Q05722 RefSeq (mRNA) NM_001851 NM_078485 NM_001377289 NM_001377290 NM_001377291 NM_001290691 NM_007740 RefSeq (protein) NP_001842 NP_511040 NP_001364218 NP_001364219 NP_001364220 NP_001277620 NP_031766 Location (UCSC) Chr 6: 70.22 – 70.3 Mb Chr 1: 24.22 – 24.29 Mb PubMed search [3] [4]
Wikidata
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This gene encodes one of the three alpha chains of type IX collagen, a collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene may be associated with multiple epiphyseal dysplasia. Two transcript variants have been identified for this gene.^[6]