Collagen, type III, alpha 1

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Collagen, type III, alpha 1

Rendering based on PDB 2V53.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL3A1 ; EDS4A
External IDs OMIM120180 MGI88453 HomoloGene55433 GeneCards: COL3A1 Gene
RNA expression pattern
PBB GE COL3A1 211161 s at tn.png
PBB GE COL3A1 201852 x at tn.png
PBB GE COL3A1 215076 s at tn.png
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:
189.84 – 189.88 Mb
Chr 1:
45.31 – 45.35 Mb
PubMed search [1] [2]

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[edit]

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[edit]

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

See also[edit]

References[edit]

  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)". 

Further reading[edit]

External links[edit]