Collagen, type III, alpha 1

COL3A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2V53, 3DMW, 4AE2, 4AEJ, 4AK3, 4GYX
Identifiers
Aliases	COL3A1, EDS4A, collagen type III alpha 1, collagen type III alpha 1 chain
External IDs	OMIM: 120180 MGI: 88453 HomoloGene: 55433 GeneCards: COL3A1
Gene ontology Molecular function • metal ion binding • integrin binding • protein binding • platelet-derived growth factor binding • SMAD binding • extracellular matrix structural constituent Cellular component • collagen trimer • endoplasmic reticulum lumen • proteinaceous extracellular matrix • extracellular region • collagen type III trimer • extracellular matrix • extracellular space Biological process • positive regulation of Rho protein signal transduction • skeletal system development • negative regulation of neuron migration • response to cytokine • response to mechanical stimulus • aging • extracellular matrix organization • platelet activation • heart development • peptide cross-linking • negative regulation of immune response • blood vessel development • regulation of immune response • cerebral cortex development • collagen catabolic process • cellular response to amino acid stimulus • integrin-mediated signaling pathway • extracellular fibril organization • response to radiation • cell-matrix adhesion • digestive tract development • transforming growth factor beta receptor signaling pathway • aorta smooth muscle tissue morphogenesis • skin development • collagen fibril organization • wound healing Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1281	12825
Ensembl	ENSG00000168542	ENSMUSG00000026043
UniProt	P02461	P08121
RefSeq (mRNA)	NM_000090	NM_009930
RefSeq (protein)	NP_000081.1	NP_034060.2
Location (UCSC)	Chr 2: 188.97 – 189.01 Mb	Chr 1: 45.31 – 45.35 Mb
PubMed search	[1]	[2]
Wikidata

Collagen alpha-1(III) chain is a protein that in humans is encoded by the COL3A1 gene,^[3][4] which is located on chromosome 2.

Function

Collagen alpha-1(III) chain is a precursor to collagen III,^[5] a protein that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.^[6]

Type-III collagen is a fibrous scleroprotein in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue; it yields gelatin on boiling.

Scleroprotein is a simple protein found in horny and cartilaginous tissues and in the lens of the eye.

Clinical significance

Mutations in this gene are associated with type III and IV Ehlers-Danlos syndrome and with aortic and arterial aneurysms.

See also

• Collagen
• Reticular fiber
• Ehlers-Danlos syndrome

Further reading

External links

• GeneReview/NCBI/NIH/UW entry on Ehlers-Danlos Syndrome Type IV
• Collagen type III at the US National Library of Medicine Medical Subject Headings (MeSH)

References