Collagen, type V, alpha 1

Last updated
COL5A1
Protein COL5A1 PDB 1A89.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases COL5A1 , EDSC, collagen type V alpha 1, collagen type V alpha 1 chain, EDSCL1, FMDMF
External IDs OMIM: 120215 MGI: 88457 HomoloGene: 55434 GeneCards: COL5A1
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 Mb Chr 2: 27.78 – 27.93 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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

Related Research Articles

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<span class="mw-page-title-main">Collagen, type I, alpha 1</span> Mammalian protein found in humans

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Collagen alpha-1 (XXVII) chain (COL27A1) is a protein that in humans is encoded by the COL27A1 gene.

<span class="mw-page-title-main">Collagen, type III, alpha 1</span>

Type III Collagen is a homotrimer, or a protein composed of three identical peptide chains (monomers), each called an alpha 1 chain of type III collagen. Formally, the monomers are called collagen type III, alpha-1 chain and in humans are encoded by the COL3A1 gene. Type III collagen is one of the fibrillar collagens whose proteins have a long, inflexible, triple-helical domain.

Type V collagen is a form of fibrillar collagen associated with classical Ehlers-Danlos syndrome. It is found within the dermal/epidermal junction, placental tissues, as well as in association with tissues containing type I collagen.

<span class="mw-page-title-main">Collagen, type V, alpha 2</span> Protein found in humans

Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene.

<span class="mw-page-title-main">Collagen, type I, alpha 2</span> Protein found in humans

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.

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Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.

<span class="mw-page-title-main">Collagen, type IV, alpha 4</span> Protein found in humans

Collagen alpha-4(IV) chain is a protein that in humans is encoded by the COL4A4 gene.

<span class="mw-page-title-main">Collagen, type IV, alpha 6</span> Mammalian protein found in humans

Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.

<span class="mw-page-title-main">Collagen, type IX, alpha 1</span> Protein found in humans

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<span class="mw-page-title-main">Collagen, type XI, alpha 1</span> Protein found in humans

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.

<span class="mw-page-title-main">Collagen, type XIV, alpha 1</span> Protein found in humans

Collagen alpha-1(XIV) chain is a protein that in humans is encoded by the COL14A1 gene. It likely plays a role in collagen binding and cell-cell adhesion.

<span class="mw-page-title-main">Collagen, type IX, alpha 3</span> Protein found in humans

Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.

<span class="mw-page-title-main">Collagen, type VIII, alpha 1</span> Protein found in humans

Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.

<span class="mw-page-title-main">PCOLCE</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Collagen, type XIX, alpha 1</span> Protein found in humans

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<span class="mw-page-title-main">Collagen, type V, alpha 3</span> Protein found in humans

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000130635 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026837 - Ensembl, 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. 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. 1 2 "Entrez Gene: COL5A1 collagen, type V, alpha 1".

Further reading