Collagen, Type X, Alpha 1

COL10A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1GR3
Identifiers
Aliases	COL10A1, collagen type X alpha 1 chain
External IDs	OMIM: 120110 MGI: 88445 HomoloGene: 55466 GeneCards: COL10A1
Gene location (Human) Chr. Chromosome 6 (human) Band 6q22.1 Start 116,118,909 bp End 116,158,747 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 B1|10 18.85 cM Start 34,265,977 bp End 34,273,081 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia periodontal fiber trabecular bone visceral pleura gallbladder Achilles tendon pancreatic epithelial cell corpus callosum germinal epithelium trachea Top expressed in humerus intercostal muscle tibia forearm trachea radius epiphyseal plate ulna ramus of the mandible scapula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding metal ion binding extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength Cellular component cell cortex collagen endoplasmic reticulum lumen extracellular region extracellular matrix extracellular space collagen-containing extracellular matrix Biological process skeletal system development extracellular matrix organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1300 12813 Ensembl ENSG00000123500 ENSMUSG00000039462 UniProt Q03692 Q05306 RefSeq (mRNA) NM_000493 NM_009925 RefSeq (protein) NP_000484 NP_034055 Location (UCSC) Chr 6: 116.12 – 116.16 Mb Chr 10: 34.27 – 34.27 Mb PubMed search
Wikidata
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This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Type X collagen has a short triple helical collagen domain flanked by the N-terminal NC2 and the C-terminal NC1 domains. The C-terminal NC1 domain has complement C1q-like structure. Collagen X forms hexamer complexes through the association of NC1 regions. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).

DDR2 is a collagen receptor for it.

Recent studies into the early detection of colon cancer have identified COL10A1 protein levels in serum as a potential diagnostic biomarker candidate to detect both adenoma lesions and tumor.

Collagen alpha-1(X) undergoes degradation in the active growth plate releasing an intact NC1 region with a small amount of collagenous region attached. This degradation byproduct has been deemed CXM and has potential to be a useful biomarker to assess real time growth velocity in children and fracture healing in adults.