Collagen, type V, alpha 1

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COL5A1
Protein COL5A1 PDB 1A89.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL5A1, EDSC, collagen type V alpha 1, collagen type V alpha 1 chain, EDSCL1
External IDsOMIM: 120215 MGI: 88457 HomoloGene: 55434 GeneCards: COL5A1
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for COL5A1
Genomic location for COL5A1
Band9q34.3Start134,641,774 bp[1]
End134,844,843 bp[1]
RNA expression pattern
PBB GE COL5A1 212488 at fs.png

PBB GE COL5A1 212489 at fs.png

PBB GE COL5A1 203325 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000093
NM_001278074

NM_015734

RefSeq (protein)

NP_000084
NP_001265003

NP_056549

Location (UCSC)Chr 9: 134.64 – 134.84 MbChr 2: 27.89 – 28.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.[5][6]

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.[6]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130635 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026837 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ a b "Entrez Gene: COL5A1 collagen, type V, alpha 1". 

Further reading[edit]

External links[edit]