Collagen, type III, alpha 1

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COL3A1
Protein COL3A1 PDB 2V53.png
Available structures
PDB Ortholog search: PDBe RCSB
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
RNA expression pattern
PBB GE COL3A1 201852 x at tn.png

PBB GE COL3A1 211161 s at tn.png

PBB GE COL3A1 215076 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000090

NM_009930

RefSeq (protein)

NP_000081

NP_034060.2
NP_034060

Location (UCSC) Chr 2: 188.97 – 189.01 Mb Chr 1: 45.31 – 45.35 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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[edit]

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[edit]

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

See also[edit]

Further reading[edit]

External links[edit]


References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 318382Freely accessible. PMID 2780304. 
  4. ^ 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. 
  5. ^ Mayne, Richard; Burgeson, Robert E. Structure and Function of Collagen Types. Academic Press, Inc. ISBN 0-12-481280-5. 
  6. ^ "Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)".