This accession number P02461 refers to what protein? What diseases are associated with this protein?
What domains are present? How large is the protein? What tissues is it associated with?
This accession number codes for the human collagen type III, alpha 1 protein which is found in many types of connective tissue such as skin, lung tissue, vascular system tissue, etc. This protein can be associated with a number of diseases including Ehlers-Danlos syndrome. It has multiple conserved domains relating to collagen structures. Based on NCBI, it is 1466 amino acids in size.
Protein: Collagen alpha-1(III) chain Disease relations: Ehlers-Danlos syndrome Domains present: A number of collagen conversed domains and a COLFI superfamily domain Size of protein: 1466 amino acids Tissue associations: connective tissues such as skin, lung, vascular tissue, etc.
This is the alpha-1 chain of human type III collagen. It has several metal-binding domains plus aCOFLI domains which is important to its assembly. It is found in many soft connective tissues, and people who have mutations in this protein are at increased risk for developing aortic aneurysms (as well as other arterial aneurysms), Known as Ehlers-Danlos Syndrome due to the loss of stability and strength in the walls of those vessels.
Ehlers-Danlos syndrome is classified into types depending on the defective genes that cause it. Alpha-1 chain type 3 collagen (COL3A1) is implicated mostly in type 4, which as Ray describes, affects vascular tissue. There are very few reported cases implicating defective COL3A1 in type 3 known as hypermobility. This type is characterized by joint instability and pain. Both are autosomal dominant diseases. The mutations arise from substitutions of various glycine residues in the protein.
1) Protein: It is associated with Collagen alpha-1 (III) chain. 2) Disease associated: Associated with Ehlers-Danlos syndrome and aneurysms. 3) Domains Present: Collagen triple helix, Fibrillar collagen C-terminal domain, and von Willebrand factor type C domain. 4) Size of the protein: 1146 amino acids in size and has a mass of 111,907 (Da) 5) Where it is found within the body: Connective tissue of the skin, lung and cardiovascular system.
This accession number codes for the human collagen type III, alpha 1 protein which is found in many types of connective tissue such as skin, lung tissue, vascular system tissue, etc. This protein can be associated with a number of diseases including Ehlers-Danlos syndrome. It has multiple conserved domains relating to collagen structures. Based on NCBI, it is 1466 amino acids in size.
ReplyDeleteProtein: Collagen alpha-1(III) chain
ReplyDeleteDisease relations: Ehlers-Danlos syndrome
Domains present: A number of collagen conversed domains and a COLFI superfamily domain
Size of protein: 1466 amino acids
Tissue associations: connective tissues such as skin, lung, vascular tissue, etc.
This is the alpha-1 chain of human type III collagen. It has several metal-binding domains plus aCOFLI domains which is important to its assembly. It is found in many soft connective tissues, and people who have mutations in this protein are at increased risk for developing aortic aneurysms (as well as other arterial aneurysms), Known as Ehlers-Danlos Syndrome due to the loss of stability and strength in the walls of those vessels.
ReplyDeleteThis comment has been removed by the author.
DeleteEhlers-Danlos syndrome is classified into types depending on the defective genes that cause it. Alpha-1 chain type 3 collagen (COL3A1) is implicated mostly in type 4, which as Ray describes, affects vascular tissue. There are very few reported cases implicating defective COL3A1 in type 3 known as hypermobility. This type is characterized by joint instability and pain. Both are autosomal dominant diseases. The mutations arise from substitutions of various glycine residues in the protein.
Delete1) Protein: It is associated with Collagen alpha-1 (III) chain.
ReplyDelete2) Disease associated: Associated with Ehlers-Danlos syndrome and aneurysms.
3) Domains Present: Collagen triple helix, Fibrillar collagen C-terminal domain, and von Willebrand factor type C domain.
4) Size of the protein: 1146 amino acids in size and has a mass of 111,907 (Da)
5) Where it is found within the body: Connective tissue of the skin, lung and cardiovascular system.