type VII collagen

VII型コラーゲン

関

collagen type VII、collagen VII

WordNet

1. write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
2. a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
3. (biology) the taxonomic group whose characteristics are used to define the next higher taxon
4. a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
5. all of the tokens of the same symbol; "the word `element contains five different types of character"
6. printed characters; "small type is hard to read"
7. identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
8. a paste-up made by sticking together pieces of paper or photographs to form an artistic image; "he used his computer to make a collage of pictures superimposed on a map" (同)montage
9. any collection of diverse things; "a collage of memories"
10. the 22nd letter of the Roman alphabet (同)v
11. a fibrous scleroprotein in bone and cartilage and tendon and other connective tissue; yields gelatin on boiling
12. writing done with a typewriter (同)typewriting

PrepTutorEJDIC

1. 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
2. コラージュ / 〈C〉画面に絵具以外のいろいろな素材を貼り付けて耕成した絵 / 〈U〉1の絵画技法
3. vanadium の化学記号

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/26 14:44:37」(JST)

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[Wiki en表示]

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 • identical protein binding Cellular component • extracellular region • collagen type VII trimer • basement membrane • extracellular space • endoplasmic reticulum lumen • extracellular matrix Biological process • cell adhesion • epidermis development • negative regulation of endopeptidase activity • extracellular matrix disassembly • extracellular matrix organization • collagen catabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1294	12836
Ensembl	ENSG00000114270	ENSMUSG00000025650
UniProt	Q02388	Q63870
RefSeq (mRNA)	NM_000094	NM_007738
RefSeq (protein)	NP_000085	NP_031764
Location (UCSC)	Chr 3: 48.6 – 48.63 Mb	Chr 9: 108.95 – 108.98 Mb
PubMed search	[1]	[2]

Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene.

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.

Type VII collagen is also found in the retina; its function in this organ is unknown.

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. COL7A1 is transcribed into an mRNA of 9,287 base pairs. In the skin, the type VII collagen protein is synthesized by keratinocytes and dermal fibroblasts.

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.

Epidermolysis bullosa acquisita involves an autoimmune reaction to this form of collagen.

Interactions

Collagen, type VII, alpha 1 has been shown to interact with Laminin, alpha 5 and Fibronectin.

See also

• Collagen

References

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. 
• 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. 
• 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

• GeneReviews/NCBI/NIH/UW entry on Dystrophic Epidermolysis Bullosa

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 胎膜：解剖学および生化学 fetal membranes anatomy and biochemistry
• 2. 全身性エリテマトーデスの皮膚粘膜症状 mucocutaneous manifestations of systemic lupus erythematosus
• 3. 表皮水疱症の診断 diagnosis of epidermolysis bullosa
• 4. 水疱性類天疱瘡およびその他の類天疱瘡疾患 bullous pemphigoid and other pemphigoid disorders
• 5. 瘢痕性眼類天疱瘡 ocular cicatricial pemphigoid

English Journal

• The retinoid-related orphan receptor alpha is essential for the end-stage effector phase of experimental epidermolysis bullosa acquisita.

• Sadeghi H1, Gupta Y1, Möller S1, Samavedam UK1, Behnen M2, Kasprick A1, Bieber K1, Müller S1, Kalies K3, de Castro Marques A1, Recke A1, Schmidt E1, Zillikens D1, Laskay T2, Mariani J4,5, Ibrahim SM1, Ludwig RJ1.
• The Journal of pathology.J Pathol.2015 Sep;237(1):111-22. doi: 10.1002/path.4556. Epub 2015 Jun 15.
• Genetic studies have added to the understanding of complex diseases. Here, we used a combined genetic approach for risk-loci identification in a prototypic, organ-specific, autoimmune disease, namely experimental epidermolysis bullosa acquisita (EBA), in which autoantibodies to type VII collagen (CO
• PMID 25953430

• Oleanane-type triterpene saponins with collagen synthesis-promoting activity from the flowers of Bellis perennis.

• Morikawa T1, Ninomiya K2, Takamori Y3, Nishida E3, Yasue M3, Hayakawa T3, Muraoka O2, Li X4, Nakamura S4, Yoshikawa M5, Matsuda H6.
• Phytochemistry.Phytochemistry.2015 Aug;116:203-12. doi: 10.1016/j.phytochem.2015.05.011. Epub 2015 May 28.
• The methanol extract from Bellis perennis (Asteraceae) flowers was found to promote collagen synthesis in normal human dermal fibroblasts (NHDFs). Seven oleanane-type triterpene saponins, perennisosides XIII-XIX, and two known saponins, bellissaponins BS5 and BS9, were isolated from the methanol ext
• PMID 26028520

• Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice.

• Hou Y1, Guey LT2, Wu T1, Gao R1, Cogan J1, Wang X1, Hong E1, Ning WV1, Keene D3, Liu N2, Huang Y2, Kaftan C2, Tangarone B2, Quinones-Garcia I2, Uitto J4, Francone OL2, Woodley DT1, Chen M1.
• The Journal of investigative dermatology.J Invest Dermatol.2015 Jul 23. doi: 10.1038/jid.2015.291. [Epub ahead of print]
• Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disorder characterized by skin fragility, blistering and multiple skin wounds with no currently approved or consistently effective treatment. It is due to mutations in the gene encoding type VII collagen (C7). Using recombinant human
• PMID 26203639

Japanese Journal

• ステロイドと DDS の併用療法を経て，最終的には DDS のみでコントロールできた後天性表皮水疱症の1例

• 皮膚の科学 14(1), 1-5, 2015
• NAID 130005076100

• 抗 VII 型コラーゲン抗体価の経時的測定が有用であった後天性表皮水疱症の 1 例

• 西日本皮膚科 75(5), 409-414, 2013
• NAID 130004475550

• 17型コラーゲンの水疱性類天疱瘡病原エピトープに対する抗体は, 補体に依存する経路と依存しない経路で皮膚を脆弱にさせる

• 北海道醫學雜誌 = Acta medica Hokkaidonensia 87(6), 262, 2012-11-01
• NAID 10031131103

Related Links

• Type-VII collagen | definition of Type-VII collagen by Medical ...

collagen [kol´ah-jen] any of a family of extracellular, closely related proteins occurring as a major component of connective tissue, giving it strength and flexibility. Numerous types exist, each composed of tropocollagen units that ...

• COL7A1 - collagen, type VII, alpha 1 - Genetics Home Reference

The official name of this gene is “collagen, type VII, alpha 1.” COL7A1 is the gene's official symbol. The COL7A1 gene is also known by other names, listed below. Read more about gene names and symbols on the About page.

Related Pictures

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★リンクテーブル★

リンク元	「VII型コラーゲン」「collagen type VII」
関連記事	「type」「V」「typed」「typing」

「VII型コラーゲン」

　　[★]

英

collagen type VII, type VII collagen

関

コラーゲン

• 基底板を細網線維に付着。anchoring fibril (HIS.97 NDE.5)

臨床関連

• 表皮水疱症

• 栄養障害型表皮水疱症

「collagen type VII」

　　[★]

VII型コラーゲン

関

collagen VII、type VII collagen

「type」

　　[★]

• n.

• 型、タイプ、(生物)タイプ標本

(windows)ファイル内容表示(linux -> cat])

ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html

関

form、mode、pattern、type specimen、typed

　 　 　 　 　 　 　 　

「V」

　　[★]

• バリン valine
• ビタミン vitamine
• ventilation

　 　

「typed」

　　[★]

• adj.

• 型の

関

form、mode、pattern、type

「typing」

　　[★]

• n.

• タイプで打つこと、タイピング。分類