COL10A1
| Collagen type X, alpha 1 | ||
|---|---|---|
|
||
| Ribbon model of the protein COL9A3 according to PDB 1GR3 | ||
| Properties of human protein | ||
| Mass / length primary structure | 680 amino acids , 66,158 Da | |
| Identifier | ||
| Gene name | COL10A1 | |
| External IDs | ||
| Orthologue | ||
| human | House mouse | |
| Entrez | 1300 | 12813 |
| Ensemble | ENSG00000123500 | ENSMUSG00000039462 |
| UniProt | Q03692 | Q05306 |
| Refseq (mRNA) | NM_000493 | NM_009925 |
| Refseq (protein) | NP_000484.2 | NP_034055.1 |
| Gene locus | Chr 6: 116.12 - 116.16 Mb | Chr 10: 34.39 - 34.4 Mb |
| PubMed search | 1300 |
12813
|
Collagen type X, alpha 1 is a network-forming collagen that the gene Col10a1 is encoded. It forms homotrimers , which in turn form type X collagen fibrils .
properties
Type X, alpha 1 collagen is produced by hypertrophic chondrocytes during enchondral ossification . and is located in the mineralization zone of the hyaline cartilage . COL10A1 participates in the metabolic pathways of integrins and in the modification of enzymes.
For colorectal cancer detection , COL10A1 can be used as a potential diagnostic biomarker to screen for adenocarcinomas . DDR2 is a collagen receptor for COL10A1.
Mutations in the COL10A1 gene can lead to metaphyseal chondrodysplasia type Schmid and spondylometaphyseal dysplasia type Sutcliffe.
Web links
Individual evidence
- ↑ Peter Zimmermann, Stephane Boeuf, Andrea Dickhut, Sandra Boehmer, Sven Olek, Wiltrud Richter: Correlation of COL10A1 Induction During Chondrogenesis of Mesenchymal Stem Cells With Demethylation of Two CpG Sites in the COL10A1 Promoter . (PDF) In: ARTHRITIS & RHEUMATISM . 58, No. 9, September 9, 2008, pp. 2743-2753. doi : 10.1002 / art.23736 .
- ↑ Michael J. Zuscik, Matthew J Hilton, Xinping Zhang, Di Chen, Regis J. O'Keefe: Regulation of chondrogenesis and chondrocyte differentiation by stress . In: J Clin Invest . 118, No. 2, February 1, 2008, pp. 429-438. doi : 10.1172 / JCI34174 . PMC 2214711 (free full text).
- ↑ Xavier Solé, Marta Crous-Bou, David Cordero, David Olivares, Elisabet Guinó, Rebeca Sanz-Pamplona, Francisco Rodriguez-Moranta, Xavier Sanjuan, Javier de Oca, Ramon Salazar, Victor Moreno: Discovery and Validation of New Potential Biomarkers for Early Detection of Colon Cancer . In: PLoS One . 9, No. 9, September 2014. doi : 10.1371 / journal.pone.0106748 . PMC 4162553 (free full text).
- ↑ Birgit Leitinger, Alvin PL Kwan: The discoidin domain receptor DDR2 is a receptor for type X collagen . In: Matrix Biol. . 25, No. 6, August 2006, pp. 355-365. doi : 10.1016 / j.matbio.2006.05.006 . PMID 16806867 .
- ↑ Jacqueline T. Tan, Friederike Kremer, Susanna Freddi, Katrina M. Bell, Naomi L. Baker, Shireen R. Lamandé, John F. Bateman: Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3 ′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia . In: AJHG . 82, No. 3, March 3, 2008, pp. 786-793. doi : 10.1016 / j.ajhg.2008.01.006 .
- ↑ Savarirayan R., Cormier-Daire V., Lachman RS, Rimoin DL: Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type . In: Pediatr Radiol . 30, No. 7, July 2000, pp. 460-463. doi : 10.1007 / s002470000181 . PMID 10929364 .