- Collagen, type VII, alpha 1
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Collagen, type VII, alpha 1 Identifiers Symbols COL7A1; EBD1; EBDCT; EBR1 External IDs OMIM: 120120 MGI: 88462 HomoloGene: 73 GeneCards: COL7A1 Gene Gene Ontology Molecular function • serine-type endopeptidase inhibitor activity
• protein binding
• peptidase inhibitor activityCellular component • extracellular region
• collagen
• collagen type VII
• basement membraneBiological process • cell adhesion
• epidermis developmentSources: Amigo / QuickGO RNA expression pattern 
More reference expression data Orthologs Species Human Mouse Entrez 1294 12836 Ensembl ENSG00000114270 ENSMUSG00000025650 UniProt Q02388 n/a RefSeq (mRNA) NM_000094 NM_007738.3 RefSeq (protein) NP_000085 NP_031764.2 Location (UCSC) Chr 3:
48.6 – 48.63 MbChr 9:
108.86 – 108.89 MbPubMed search [1] [2] Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene.[1]
Contents
Function
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an autoimmune response against type VII collagen can result in an acquired form of this disease called epidermolysis bullosa acquisita.[2]
Type VII collagen is also found in the retina; its function in this organ is unknown.[3]
COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately 31,000 base pairs in size and is remarkable for the extreme fragmentation of its coding sequence into 118 exons.[4][5] COL7A1 is transcribed into an mRNA of 9,287 base pairs.[6] In the skin, the type VII collagen protein is synthesized by keratinocytes and dermal fibroblasts.[7]
The symbol for the orthologous gene in the mouse is Col7a1.
Clinical significance
The inherited disease, dystrophic epidermolysis bullosa, is caused by recessive or dominant mutations in COL7A1.[8]
Epidermolysis bullosa acquisita involves an autoimmune reaction to this form of collagen.[9]
Interactions
Collagen, type VII, alpha 1 has been shown to interact with Laminin, alpha 5[10] and Fibronectin.[11][12]
See also
References
- ^ Parente MG, Chung LC, Ryynanen J, Woodley DT, Wynn KC, Bauer EA, Mattei MG, Chu ML, Uitto J (Sep 1991). "Human type VII collagen: cDNA cloning and chromosomal mapping of the gene". Proc Natl Acad Sci U S A 88 (16): 6931–5. doi:10.1073/pnas.88.16.6931. PMC 52207. PMID 1871109. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=52207.
- ^ "COL7A1 collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)". NCBI Entrez Gene database. http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1294.
- ^ Ponsioen TL, van Luyn MJ, van der Worp RJ, et al. (2008). "Collagen distribution in the human vitreoretinal interface.". Invest. Ophthalmol. Vis. Sci. 49 (9): 4089–95. doi:10.1167/iovs.07-1456. PMID 18450587.
- ^ Christiano AM, Hoffman GG, Chung-Honet LC, et al. (1994). "Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene.". Genomics 21 (1): 169–79. doi:10.1006/geno.1994.1239. PMID 8088784.
- ^ "COL7A1 genomic sequence". NCBI Entrez Nucleotide database. http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nuccore&id=495865.
- ^ "COL7A1 mRNA sequence". NCBI Entrez Nucleotide database. http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nuccore&id=987124.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) COL7A1 -120120
- ^ Dang N, Murrell DF (2008). "Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.". Exp. Dermatol. 17 (7): 553–68. doi:10.1111/j.1600-0625.2008.00723.x. PMID 18558993.
- ^ Helen Chapel; Mansel Haeney; Siraj Misbah (2006). Essentials of clinical immunology. Wiley-Blackwell. pp. 207–. ISBN 9781405127615. http://books.google.com/books?id=mXWX2WkFhlIC&pg=PA207. Retrieved 25 June 2010.
- ^ Rousselle, P; Keene D R, Ruggiero F, Champliaud M F, Rest M, Burgeson R E (Aug. 1997). "Laminin 5 binds the NC-1 domain of type VII collagen". J. Cell Biol. (UNITED STATES) 138 (3): 719–28. doi:10.1083/jcb.138.3.719. ISSN 0021-9525. PMC 2141627. PMID 9245798. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2141627.
- ^ Lapiere, J C; Chen J D, Iwasaki T, Hu L, Uitto J, Woodley D T (Nov. 1994). "Type VII collagen specifically binds fibronectin via a unique subdomain within the collagenous triple helix". J. Invest. Dermatol. (UNITED STATES) 103 (5): 637–41. doi:10.1111/1523-1747.ep12398270. ISSN 0022-202X. PMID 7963647.
- ^ Chen, M; Marinkovich M P, Veis A, Cai X, Rao C N, O'Toole E A, Woodley D T (Jun. 1997). "Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin". J. Biol. Chem. (UNITED STATES) 272 (23): 14516–22. doi:10.1074/jbc.272.23.14516. ISSN 0021-9258. PMID 9169408.
Further reading
- Mecklenbeck S, Hammami-Hauasli N, Höpfner B, et al. (1999). "Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.". J. Invest. Dermatol. 112 (3): 398–400. doi:10.1046/j.1523-1747.1999.00518.x. PMID 10084325.
- Dang N, Klingberg S, Marr P, Murrell DF (2007). "Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.". J. Dermatol. Sci. 46 (3): 169–78. doi:10.1016/j.jdermsci.2007.02.006. PMID 17425959.
- Christiano AM, Rosenbaum LM, Chung-Honet LC, et al. (1993). "The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor.". Hum. Mol. Genet. 1 (7): 475–81. doi:10.1093/hmg/1.7.475. PMID 1307247.
- Gammon WR, Abernethy ML, Padilla KM, et al. (1993). "Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix.". J. Invest. Dermatol. 99 (6): 691–6. doi:10.1111/1523-1747.ep12614080. PMID 1469284.
- Tanaka T, Takahashi K, Furukawa F, Imamura S (1992). "Molecular cloning and characterization of type VII collagen cDNA.". Biochem. Biophys. Res. Commun. 183 (3): 958–63. doi:10.1016/S0006-291X(05)80283-9. PMID 1567409.
- Seltzer JL, Eisen AZ, Bauer EA, et al. (1989). "Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin.". J. Biol. Chem. 264 (7): 3822–6. PMID 2537292.
- Fine JD, Johnson L, Wright T (1989). "Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome.". Archives of dermatology 125 (5): 633–8. doi:10.1001/archderm.125.5.633. PMID 2653224.
- Bart BJ, Gorlin RJ, Anderson VE, Lynch FW (1966). "Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome.". Archives of dermatology 93 (3): 296–304. doi:10.1001/archderm.93.3.296. PMID 5910871.
- Tanaka T, Furukawa F, Imamura S (1994). "Epitope mapping for epidermolysis bullosa acquisita autoantibody by molecularly cloned cDNA for type VII collagen.". J. Invest. Dermatol. 102 (5): 706–9. doi:10.1111/1523-1747.ep12374333. PMID 7513737.
- Christiano AM, Morricone A, Paradisi M, et al. (1995). "A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.". J. Invest. Dermatol. 104 (3): 438–40. doi:10.1111/1523-1747.ep12666033. PMID 7861014.
- Christiano AM, Suga Y, Greenspan DS, et al. (1995). "Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.". J. Clin. Invest. 95 (3): 1328–34. doi:10.1172/JCI117783. PMC 441472. PMID 7883979. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=441472.
- Lapiere JC, Chen JD, Iwasaki T, et al. (1994). "Type VII collagen specifically binds fibronectin via a unique subdomain within the collagenous triple helix.". J. Invest. Dermatol. 103 (5): 637–41. doi:10.1111/1523-1747.ep12398270. PMID 7963647.
- Christiano AM, Greenspan DS, Lee S, Uitto J (1994). "Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.". J. Biol. Chem. 269 (32): 20256–62. PMID 8051117.
- Christiano AM, Ryynänen M, Uitto J (1994). "Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.". Proc. Natl. Acad. Sci. U.S.A. 91 (9): 3549–53. doi:10.1073/pnas.91.9.3549. PMC 43617. PMID 8170945. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=43617.
- Greenspan DS, Byers MG, Eddy RL, et al. (1993). "Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization.". Cytogenet. Cell Genet. 62 (1): 35–6. doi:10.1159/000133440. PMID 8422754.
- Greenspan DS (1993). "The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene.". Hum. Mol. Genet. 2 (3): 273–8. doi:10.1093/hmg/2.3.273. PMID 8499916.
- Christiano AM, Greenspan DS, Hoffman GG, et al. (1993). "A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.". Nat. Genet. 4 (1): 62–6. doi:10.1038/ng0593-62. PMID 8513326.
- Christiano AM, Lee JY, Chen WJ, et al. (1996). "Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.". Hum. Mol. Genet. 4 (9): 1579–83. doi:10.1093/hmg/4.9.1579. PMID 8541842.
External Links
Extracellular matrix Fibril formingOtherFACIT: type IX (COL9A1, COL9A2, COL9A3) · type XII (COL12A1) · COL14A1 · COL16A1 · COL19A1 · COL20A1 · COL21A1 · COL22A1
basement membrane: type IV (COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6)
multiplexin: COL15A1 · type XVIII (COL18A1, Endostatin)
transmembrane: COL13A1 · COL17A1 · COL23A1 · COL25A1
other: type VI (COL6A1, COL6A2, COL6A3) · type VII (COL7A1) · type VIII (COL8A1, COL8A2) · type X (COL10A1) · type XI (COL11A1, COL11A2) · COL27A1 · COL28A1 · COL29A1OtherALCAM · Elastin (Tropoelastin) · Vitronectin · FRAS1 · FREM2 · Decorin · FAM20C · ECM1 · Matrix gla protein · Tectorin (TECTA, TECTB)Other see also diseases
B proteins: BY STRUCTURE: membrane, globular (en, ca, an), fibrousCategories:- Human proteins
- Chromosome 3 gene stubs
- Collagens
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