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collagen 5 alpha-1 (COL5A1)

Function: - type 5 collagen is a member of group 1 collagen (fibrillar forming collagen) - it is a minor connective tissue component of nearly ubiquitous distribution - type 5 collagen binds to DNA, heparan sulfate, thrombospondin, heparin, & insulin - Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains - sulfated on 40% of Tyr - trimers of two COL5A1 & one COL5A2 chains in most tissues - trimers of one COL5A1, one COL5A2, & one COL5A3 in placenta - interacts with CSPG4 Structure: - belongs to the fibrillar collagen family - contains 1 fibrillar collagen NC1 domain - contains 1 laminin G-like domain Compartment: - secreted, extracellular space, extracellular matrix (putative) Pathology: - defects in COL5A1 are a cause of a) Ehlers-Danlos syndrome type 1 b) Ehlers-Danlos syndrome type 2

Related

COL5A1 or collagen 5 alpha-1 gene Ehlers-Danlos syndrome type I (severe form of classic Ehlers-Danlos) Ehlers-Danlos syndrome type II (mild classic form)

General

collagen subunit

Properties

SIZE: entity length = 1838 aa MW = 184 kD MOTIF: signal sequence {1-37} Laminin G-like {72-244} Nonhelical region {231-443} Interrupt coll reg {444-558} Triple-helical region {559-1570} Nonhelical region {1571-1605} Fibrillar collagen NC1 {1609-1837}

Database Correlations

OMIM correlations MORBIDMAP 120215 UniProt P20908 PFAM correlations Entrez Gene 1289 Kegg hsa:1289

References

  1. UniProt :accession P20908
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL5A1)
  3. Molecular Cell Biology (2nd ed) Darnell J; Lodish H & Baltimore D (eds), Scientific American Books, WH Freeman, NY 1990, pg 906
  4. Entrez Gene :accession 1289

Component-of

collagen type-5