Collagen, type III, alpha 1

Collagen, type III, alpha 1
Rendering based on PDB 2V53​.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2V53​, 3DMW​, 4AE2​, 4AEJ​, 4AK3​, 4GYX​
Identifiers
Symbols	COL3A1 ; EDS4A
External IDs	OMIM: 120180 MGI: 88453 HomoloGene: 55433 GeneCards: COL3A1 Gene
Gene ontology Molecular function • integrin binding • extracellular matrix structural constituent • protein binding • SMAD binding • metal ion binding • platelet-derived growth factor binding Cellular component • extracellular region • collagen type III trimer • extracellular space • endoplasmic reticulum lumen • extracellular matrix Biological process • skeletal system development • receptor-mediated endocytosis • cell-matrix adhesion • transforming growth factor beta receptor signaling pathway • integrin-mediated signaling pathway • axon guidance • heart development • aging • response to radiation • response to mechanical stimulus • peptide cross-linking • cerebral cortex development • extracellular matrix disassembly • platelet activation • extracellular matrix organization • collagen fibril organization • collagen catabolic process • response to cytokine • positive regulation of Rho protein signal transduction • wound healing • extracellular fibril organization • skin development • digestive tract development • negative regulation of immune response • aorta smooth muscle tissue morphogenesis • cellular response to amino acid stimulus • negative regulation of neuron migration 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	NP_034060
Location (UCSC)	Chr 2: 188.97 – 189.01 Mb	Chr 1: 45.31 – 45.35 Mb
PubMed search

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

Function

Collagen alpha-1(III) chain is a fibrillar collagen 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.^[3]

Type-III collagen is a fibrous scleroprotein in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue; 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

• Kuivaniemi H, Tromp G, Prockop DJ (1991). "Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.". J. Clin. Invest. 88 (5): 1441–4. doi:10.1172/JCI115452. PMC 295644. PMID 1939638.
• Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.

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

1. Janeczko RA, Ramirez F (Oct 1989). "Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen". Nucleic Acids Res 17 (16): 6742. doi:10.1093/nar/17.16.6742. PMC 318382. PMID 2780304.
2. Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B (Jun 1988). "Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen". J Biol Chem 263 (13): 6226–32. PMID 2834369.
3. "Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)".