Collagen, type V, alpha 1

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COL5A1
Protein COL5A1 PDB 1A89.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases COL5A1, EDSC, collagen type V alpha 1
External IDs OMIM: 120215 MGI: 88457 HomoloGene: 55434 GeneCards: 1289
RNA expression pattern
PBB GE COL5A1 203325 s at tn.png

PBB GE COL5A1 212488 at tn.png

PBB GE COL5A1 212489 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000093
NM_001278074

NM_015734

RefSeq (protein)

NP_000084.3

NP_056549.2

Location (UCSC) Chr 9: 134.64 – 134.84 Mb Chr 2: 27.89 – 28.04 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.[1][2]

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II.[2]

See also[edit]

References[edit]

  1. ^ Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB (May 1992). "Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome". Genomics 12 (4): 836–7. doi:10.1016/0888-7543(92)90320-R. PMID 1572660. 
  2. ^ a b "Entrez Gene: COL5A1 collagen, type V, alpha 1". 

Further reading[edit]

External links[edit]