Collagen, type III, alpha 1

Collagen, type III, alpha 1
Collagen, type III, alpha 1

Rendering based on PDB 2V53.
Identifiers
Symbols COL3A1; EDS4A; FLJ34534
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 n/a
RefSeq (mRNA) NM_000090.3 NM_009930.2
RefSeq (protein) NP_000081.1 NP_034060.2
Location (UCSC) Chr 2:
189.84 – 189.88 Mb
Chr 1:
45.37 – 45.41 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.

Contents

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, 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

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=318382. 
  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)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1281. 

Further reading

External links


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