COL6A3

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Collagen, type VI, alpha 3
Protein COL6A3 PDB 1knt.png
PDB rendering based on 1knt.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL6A3 ; DKFZp686D23123; DKFZp686K04147; DKFZp686N0262; FLJ34702; FLJ98399
External IDs OMIM120250 MGI88461 HomoloGene37917 GeneCards: COL6A3 Gene
RNA expression pattern
PBB GE COL6A3 201438 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1293 12835
Ensembl ENSG00000163359 ENSMUSG00000048126
UniProt P12111 D3YWD1
RefSeq (mRNA) NM_004369 NM_001243008
RefSeq (protein) NP_004360 NP_001229937
Location (UCSC) Chr 2:
238.23 – 238.32 Mb
Chr 1:
90.77 – 90.84 Mb
PubMed search [1] [2]

Collagen alpha-3(VI) chain is a protein that in humans is encoded by the COL6A3 gene.[1][2][3]

Function[edit]

This gene encodes the alpha 3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha 3 chain of type VI collagen is much larger than the alpha 1 and 2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy. In addition to the full length transcript, four transcript variants have been identified that encode proteins with N-terminal globular domains of varying sizes.[3]

References[edit]

  1. ^ Zanussi S, Doliana R, Segat D, Bonaldo P, Colombatti A (Dec 1992). "The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon". J Biol Chem 267 (33): 24082–9. PMID 1339440. 
  2. ^ Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P (May 2002). "Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy". Am J Hum Genet 70 (6): 1446–58. doi:10.1086/340608. PMC 419991. PMID 11992252. 
  3. ^ a b "Entrez Gene: COL6A3 collagen, type VI, alpha 3". 

Further reading[edit]

External links[edit]