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

SymbolSpecies
Wdr33 Mus musculus
Col3a1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO 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