collagen, type III, alpha 1
Symbol
COL3A1
(may also be known as: None)
Organism
Human
Description
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
Orthologs
Symbol | Species | |
---|---|---|
Wdr33 | Mus musculus | |
Col3a1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
GO ID | GO Term | GO Category | |
---|---|---|---|
GO:0001501 | skeletal system development | biological_process | |
GO:0001568 | blood vessel development | biological_process | |
GO:0007160 | cell-matrix adhesion | biological_process | |
GO:0007179 | transforming growth factor beta receptor signaling pathway | biological_process | |
GO:0007229 | integrin-mediated signaling pathway | biological_process | |
GO:0007411 | axon guidance | biological_process | |
GO:0007507 | heart development | biological_process | |
GO:0009314 | response to radiation | biological_process | |
GO:0018149 | peptide cross-linking | biological_process | |
GO:0030168 | platelet activation | biological_process | |
GO:0030199 | collagen fibril organization | biological_process | |
GO:0032964 | collagen biosynthetic process | biological_process | |
GO:0034097 | response to cytokine stimulus | biological_process | |
GO:0042060 | wound healing | biological_process | |
GO:0043206 | fibril organization | biological_process | |
GO:0043588 | skin development | biological_process | |
GO:0048565 | digestive tract development | biological_process | |
GO:0050777 | negative regulation of immune response | biological_process | |
GO:0071230 | cellular response to amino acid stimulus | biological_process | |
GO:0005576 | extracellular region | cellular_component | |
GO:0005581 | collagen | cellular_component | |
GO:0005586 | collagen type III | cellular_component | |
GO:0005615 | extracellular space | cellular_component | |
GO:0031012 | extracellular matrix | cellular_component | |
GO:0005178 | integrin binding | molecular_function | |
GO:0005201 | extracellular matrix structural constituent | molecular_function | |
GO:0005515 | protein binding | molecular_function | |
GO:0046332 | SMAD binding | molecular_function | |
GO:0048407 | platelet-derived growth factor binding | molecular_function | |