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COL6A1
Identifiers
Aliases	COL6A1, OPLL, BTHLM1, UCHMD1, collagen type VI alpha 1, collagen type VI alpha 1 chain
External IDs	OMIM: 120220; MGI: 88459; HomoloGene: 1391; GeneCards: COL6A1; OMA:COL6A1 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) Band 21q22.3 Start 45,981,770 bp End 46,005,050 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 C1|10 39.71 cM Start 76,544,626 bp End 76,562,002 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium tendon of biceps brachii body of uterus muscle layer of sigmoid colon left uterine tube saphenous vein right ovary canal of the cervix skin of hip left ovary Top expressed in efferent ductule umbilical cord calvaria internal carotid artery ankle joint uterus ankle cervix left lung lobe vas deferens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function platelet-derived growth factor binding extracellular matrix structural constituent conferring tensile strength Cellular component extracellular matrix extracellular region collagen type VI trimer lysosomal membrane sarcolemma collagen endoplasmic reticulum lumen extracellular exosome membrane extracellular space protein-containing complex collagen-containing extracellular matrix Biological process collagen catabolic process cellular response to amino acid stimulus protein heterotrimerization cell adhesion extracellular matrix organization endodermal cell differentiation osteoblast differentiation growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1291 12833 Ensembl ENSG00000142156 ENSMUSG00000001119 UniProt P12109 Q04857 RefSeq (mRNA) NM_001848 NM_009933 RefSeq (protein) NP_001839 NP_034063 Location (UCSC) Chr 21: 45.98 – 46.01 Mb Chr 10: 76.54 – 76.56 Mb PubMed search
Wikidata
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Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.

Function

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000142156 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000001119 – 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. ^ "Entrez Gene: COL6A1 collagen, type VI, alpha 1".

Further reading

• Bertini E, Pepe G (2002). "Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy". Eur. J. Paediatr. Neurol. 6 (4): 193–8. doi:10.1053/ejpn.2002.0593. PMID 12374585.
• Lampe AK, Bushby KM (2006). "Collagen VI related muscle disorders". J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
• Bidanset DJ, Guidry C, Rosenberg LC, et al. (1992). "Binding of the proteoglycan decorin to collagen type VI". J. Biol. Chem. 267 (8): 5250–6. doi:10.1016/S0021-9258(18)42759-7. PMID 1544908.
• Saitta B, Wang YM, Renkart L, et al. (1992). "The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar". Genomics. 11 (1): 145–53. doi:10.1016/0888-7543(91)90111-Q. PMID 1765372.
• Chu ML, Pan TC, Conway D, et al. (1989). "Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus". EMBO J. 8 (7): 1939–46. doi:10.1002/j.1460-2075.1989.tb03598.x. PMC 401054. PMID 2551668.
• Chu ML, Conway D, Pan TC, et al. (1989). "Amino acid sequence of the triple-helical domain of human collagen type VI". J. Biol. Chem. 263 (35): 18601–6. doi:10.1016/S0021-9258(18)37327-7. PMID 3198591.
• Weil D, Mattei MG, Passage E, et al. (1988). "Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen". Am. J. Hum. Genet. 42 (3): 435–45. PMC 1715162. PMID 3348212.
• Chu ML, Mann K, Deutzmann R, et al. (1987). "Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones". Eur. J. Biochem. 168 (2): 309–17. doi:10.1111/j.1432-1033.1987.tb13422.x. PMID 3665927.
• Jander R, Rauterberg J, Glanville RW (1983). "Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)". Eur. J. Biochem. 133 (1): 39–46. doi:10.1111/j.1432-1033.1983.tb07427.x. PMID 6852033.
• Tillet E, Wiedemann H, Golbik R, et al. (1994). "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI". Eur. J. Biochem. 221 (1): 177–85. doi:10.1111/j.1432-1033.1994.tb18727.x. PMID 8168508.
• Saitta B, Chu ML (1996). "Characterization of the human alpha 1(VI) collagen promoter and its comparison with human alpha 2(VI) promoters". Eur. J. Biochem. 234 (2): 542–9. doi:10.1111/j.1432-1033.1995.542_b.x. PMID 8536701.
• Jobsis GJ, Bolhuis PA, Boers JM, et al. (1996). "Genetic localization of Bethlem myopathy". Neurology. 46 (3): 779–82. doi:10.1212/wnl.46.3.779. PMID 8618682. S2CID 23010114.
• Jöbsis GJ, Keizers H, Vreijling JP, et al. (1996). "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures". Nat. Genet. 14 (1): 113–5. doi:10.1038/ng0996-113. PMID 8782832. S2CID 26173341.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Trikka D, Davis T, Lapenta V, et al. (1997). "Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2". Mamm. Genome. 8 (5): 342–5. doi:10.1007/s003359900436. PMID 9107679. S2CID 23649983.
• Kuo HJ, Maslen CL, Keene DR, Glanville RW (1997). "Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen". J. Biol. Chem. 272 (42): 26522–9. doi:10.1074/jbc.272.42.26522. PMID 9334230.
• Sasaki T, Brakebusch C, Engel J, Timpl R (1998). "Mac-2 binding protein is a cell-adhesive protein of the extracellular matrix which self-assembles into ring-like structures and binds beta1 integrins, collagens and fibronectin". EMBO J. 17 (6): 1606–13. doi:10.1093/emboj/17.6.1606. PMC 1170508. PMID 9501082.
• Lamandé SR, Bateman JF, Hutchison W, et al. (1998). "Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency". Hum. Mol. Genet. 7 (6): 981–9. doi:10.1093/hmg/7.6.981. PMID 9580662.
• Pepe G, Giusti B, Bertini E, et al. (1999). "A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy". Biochem. Biophys. Res. Commun. 258 (3): 802–7. doi:10.1006/bbrc.1999.0680. PMID 10329467.
• Merlini L, Villanova M, Sabatelli P, et al. (1999). "Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy". Neuromuscul. Disord. 9 (5): 326–9. doi:10.1016/S0960-8966(99)00022-X. PMID 10407855. S2CID 53256492.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview

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