Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
The Database for Annotation, Visualization and Integrated Discovery
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collagen type VI alpha 5 chain(COL6A5) collagen type VI alpha 5 chain(COL6A5) Related Genes Homo sapiens
CHROMOSOME 3,
CYTOBAND 3q22.1,
ENSEMBL_GENE_ID ENSG00000172752,
GENERIF_SUMMARY To identify the underlying atopic dermatitis disease gene, a dense map of microsatellite markers and single nucleotide polymorphisms was used, and association with AD was detected., The discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix., unlike eczema, genetic variation at COL29A1 and IL31 loci is unlikely to impact inflammatory bowel disease risk, The role of the COL29A1 gene as an atopic dermatitis gene was not supported. Also, COL29A1 did not play a substantial role in the pathogenesis of chronic obstructive pulmonary disease or asthma., localization of alpha5, and to a lesser extent alpha6, is restricted to the papillary dermis, where the protein mainly colocalizes with collagen fibrils; both chains were found around blood vessels, Our results suggest that COL29A1 is unlikely to contain genetic variants that have a major effect on eczema or atopy susceptibility., The collagen VI alpha5 chain is selectively localized at the basement membrane of myotendinous junctions.,
OFFICIAL_GENE_SYMBOL COL6A5,
SP_COMMENT disease:Genetic variation of COL29A1 may be associated with susceptibility to atopic dermatitis (ATOD) [MIM:603165]. ATOP, also known as eczema commonly begins in infancy or early childhook and is characterized by itchy and inflamed skin., function:Collagen VI acts as a cell-binding protein., PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains., sequence caution:Translation N-terminally extended., similarity:Belongs to the type VI collagen family., similarity:Contains 10 VWFA domains., subcellular location:Deposed in the extracellular matrix of skeletal muscle., subunit:Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI)., tissue specificity:Expressed in skin, followed by lung, small intestine, colon and testis. In skin, it is expressed in the epidermis with strongest staining in suprabasal viable layers. In ATOD patients, it is absent in the most differentiated upper spinous and granular layers (at protein level).,