Collagen, type V, alpha 3

COL5A3
Identifiers
AliasesCOL5A3, collagen type V alpha 3 chain
External IDsOMIM: 120216; MGI: 1858212; HomoloGene: 9253; GeneCards: COL5A3; OMA:COL5A3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015719

NM_016919
NM_001317388

RefSeq (protein)

NP_056534

NP_001304317
NP_058615

Location (UCSC)Chr 19: 9.96 – 10.01 MbChr 9: 20.68 – 20.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-3(V) chain is a protein that in humans is encoded by the COL5A3 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 thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages.[6]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000080573Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004098Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Imamura Y, Scott IC, Greenspan DS (Apr 2000). "The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains". J Biol Chem. 275 (12): 8749–59. doi:10.1074/jbc.275.12.8749. PMID 10722718.
  6. ^ a b "Entrez Gene: COL5A3 collagen, type V, alpha 3".

Further reading

[edit]