COL12A1
| Type XII collagen, alpha 1 | ||
|---|---|---|
| other names |
|
|
| Properties of human protein | ||
| Mass / length primary structure | 3,063 amino acids , 333,147 Da | |
| Isoforms | 3 | |
| Identifier | ||
| Gene names | COL12A1; DJ234P15.1, BA209D8.1, BTHLM2, UCMD2 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Euteleostomi | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 1303 | 12816 |
| Ensemble | ENSG00000111799 | ENSMUSG00000032332 |
| UniProt | Q99715 | Q60847 |
| Refseq (mRNA) | NM_004370 | NM_001290308 |
| Refseq (protein) | NP_004361.3 | NP_001277237.1 |
| Gene locus | Chr 6: 75.08 - 75.21 Mb | Chr 9: 79.6 - 79.72 Mb |
| PubMed search | 1303 |
12816
|
Collagen type XII, alpha 1 is a collagen that the gene COL12A1 is encoded. It forms homotrimers , which in turn form type XII collagen fibrils .
properties
Type XII collagen interacts with fibrils that contain type I collagen. Hence it is also known as fibril-associated. The COL1 domain becomes associated with the fibril surface and the COL2 and NC3 domains are likely to be in the surrounding matrix . It is responsible for cell adhesion , collagen catabolism , the organization of the collagen fibrils in the cytoskeleton , endodermal cell differentiation and the development of the skeleton.
The isoforms 1 and 2 are located in the amnion , the chorion , in skeletal muscle , small intestine and in the cell culture of dermal fibroblasts , keratinocytes , and endothelial cells . Only isoform 2 is found in the lungs , placenta and in the cell line of squamous cell carcinoma . Isoform 1 is also found in Bowman's membrane and in the interfibrillary matrix of the stroma of the cornea.
Mutations in the COL12A1 gene can lead to Bethlem myopathy 2 and Ullrich type 2 congenital muscular dystrophy .
Web links
Individual evidence
- ↑ J. Punetha, A. Kesari, EP Hoffman, M. Gos, A. Kamińska, A. Kostera-Pruszczyk, I. Hausmanowa-Petrusewicz, Y. Hu, Y. Zou, CG Bönnemann, M. JȨdrzejowska: Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects . In: Muscle Nerve . June 27, 2016. doi : 10.1002 / mus.25232 . PMID 27348394 .
- ↑ Yaqun Zou, Daniela Zwolanek, Yayoi Izu, Shreya Gandhy, Gudrun Schreiber, Knut Brockmann, Marcella Devoto, Zuozhen Tian, Ying Hu, Guido Veit, Markus Meier, Jörg Stetefeld, Debbie Hicks, Volker Straub, Nicol C. Voermans, David E. Birk, Elisabeth R. Barton, Manuel Koch, Carsten G. Bönnemann: Recessive and dominant mutations in COL12A1 cause a novel EDS / myopathy overlap syndrome in humans and mice . In: Hum Mol Genet . 23, No. 9, May 1, 2014, pp. 2339–2352. doi : 10.1093 / hmg / ddt627 . PMC 3976332 (free full text).