COL16A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | COL16A1 , 447AA, FP1572, collagen type XVI alpha 1, collagen type XVI alpha 1 chain | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 120326 MGI: 1095396 HomoloGene: 1397 GeneCards: COL16A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Collagen alpha-1(XVI) chain is a protein that in humans is encoded by the COL16A1 gene. [5] [6]
This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [6]
Nidogen-1 (NID-1), formerly known as entactin, is a protein that in humans is encoded by the NID1 gene. Both nidogen-1 and nidogen-2 are essential components of the basement membrane alongside other components such as type IV collagen, proteoglycans, laminin and fibronectin.
Collagen XVII, previously called BP180, is a transmembrane protein which plays a critical role in maintaining the linkage between the intracellular and the extracellular structural elements involved in epidermal adhesion, identified by Diaz and colleagues in 1990.
Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.
Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. It is composed of a triple helical, collagenous domain flanked by two non-collagenous domains, and functions as an anchoring fibril between the dermal-epidermal junction in the basement membrane. Mutations in COL7A1 cause all types of dystrophic epidermolysis bullosa, and the exact mutations vary based on the specific type or subtype. It has been shown that interactions between the NC-1 domain of collagen VII and several other proteins, including laminin-5 and collagen IV, contribute greatly to the overall stability of the basement membrane.
Collagen alpha-1(XVIII) chain is a protein that in humans is encoded by the COL18A1 gene.
Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene.
Collagen alpha-2(IV) chain is a protein that in humans is encoded by the COL4A2 gene.
Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.
Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the COL10A1 gene.
Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.
Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.
Collagen alpha-3(VI) chain is a protein that in humans is encoded by the COL6A3 gene. This protein is an alpha chain of type VI collagen that aids in microfibril formation. As part of type VI collagen, this protein has been implicated in Bethlem myopathy, Ullrich congenital muscular dystrophy (UCMD), and other diseases related to muscle and connective tissue.
Fibulin-2 is a protein that in humans is encoded by the FBLN2 gene.
Collagen alpha-1(XIV) chain is a protein that in humans is encoded by the COL14A1 gene. It likely plays a role in collagen binding and cell-cell adhesion.
Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.
Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.
Collagen alpha-1(XIX) chain is a protein that in humans is encoded by the COL19A1 gene.
Collagen alpha-3(V) chain is a protein that in humans is encoded by the COL5A3 gene.
Collagen alpha-1(XXV) chain is a protein that in humans is encoded by the COL25A1 gene.
Collagen α-1 (XXIII) chain is a protein encoded by COL23A1 gene, which is located on chromosome 5q35 in humans, and on chromosome 11B1+2 in mice. The location of this gene was discovered by genomic sequence analysis.