Collagen, type III, alpha 1

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COL3A1
Protein COL3A1 PDB 2V53.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL3A1, EDS4A, collagen type III alpha 1, collagen type III alpha 1 chain, EDSVASC
External IDsOMIM: 120180 MGI: 88453 HomoloGene: 55433 GeneCards: COL3A1
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for COL3A1
Genomic location for COL3A1
Band2q32.2Start188,974,320 bp[1]
End189,012,746 bp[1]
RNA expression pattern
PBB GE COL3A1 211161 s at fs.png

PBB GE COL3A1 201852 x at fs.png

PBB GE COL3A1 215076 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000090

NM_009930

RefSeq (protein)

NP_000081

NP_034060

Location (UCSC)Chr 2: 188.97 – 189.01 MbChr 1: 45.31 – 45.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-1(III) chain is a protein that in humans is encoded by the COL3A1 gene,[5][6] which is located on chromosome 2.

Function[edit]

Collagen alpha-1(III) chain is a precursor to collagen III,[7] 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.[8]

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]

  • 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[edit]


References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168542 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026043 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ 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.
  7. ^ Mayne, Richard; Burgeson, Robert E. Structure and Function of Collagen Types. Academic Press, Inc. ISBN 0-12-481280-5.
  8. ^ "Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)".