اینتگرین آلفا ۷
اینتگرین آلفا ۷ (انگلیسی: Integrin alpha 7) یک پروتئین است که در انسان توسط ژن «ITGA7» کُدگذاری میشود.[4][5] وجودِ «اینتگرین آلفا ۷» برای تنظیم تعامل متقابل سلول و ماتریکس برونیاختهای، حیاتی است و این پروتئین به میزان قابل توجهی در ماهیچه اسکلتی، ماهیچه صاف و ماهیچهٔ قلبی بیان میشود و جایگاهش بیشتر در سارکومر و کوستامر است.
ITGA7 | |||||||||||||||||||||||||
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معینکنندهها | |||||||||||||||||||||||||
نامهای دیگر | ITGA7, integrin subunit alpha 7 | ||||||||||||||||||||||||
شناسههای بیرونی | OMIM: 600536 MGI: 102700 HomoloGene: 37592 GeneCards: ITGA7 | ||||||||||||||||||||||||
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همساختشناسی | |||||||||||||||||||||||||
گونهها | انسان | موش | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
آنسامبل | |||||||||||||||||||||||||
یونیپروت | |||||||||||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (پروتئین) |
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موقعیت (UCSC) | n/a | Chr : 128.93 – 128.96 Mb | |||||||||||||||||||||||
جستجوی PubMed | [2] | [3] | |||||||||||||||||||||||
ویکیداده | |||||||||||||||||||||||||
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اهمیت بالینی
جهش در ژن «ITGA7» در بیماری «میوپاتی مادرزادی طبقهبندینشده»[6] و «کاردیومیوپاتی غیر متراکم» (NCC)[7] مشاهده شدهاست.
همچنین مشاهده گردیده که در دیستروفی ماهیچهای دوشن و دیستروفی ماهیچهای بکر، بیان ژنی «آلفا-۷بی» تشدید میشود.[8]
منابع
- GRCm38: Ensembl release 89: ENSMUSG00000025348 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Wang W, Wu W, Desai T, Ward DC, Kaufman SJ (Aug 1995). "Localization of the alpha 7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families". Genomics. 26 (3): 568–70. doi:10.1016/0888-7543(95)80176-M. PMID 7607681.
- "Entrez Gene: ITGA7 integrin, alpha 7".
- Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, et al. (May 1998). "Mutations in the integrin alpha7 gene cause congenital myopathy". Nat. Genet. 19 (1): 94–7. doi:10.1038/ng0598-94. PMID 9590299.
- Esposito T, Sampaolo S, Limongelli G, Varone A, Formicola D, Diodato D, et al. (June 2013). "Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy". Orphanet J Rare Dis. 8: 91. doi:10.1186/1750-1172-8-91. PMC 3695851. PMID 23800289.
- Cohn RD, Mayer U, Saher G, Herrmann R, van der Flier A, Sonnenberg A, Sorokin L, Voit T (March 1999). "Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle". J. Neurol. Sci. 163 (2): 140–52. doi:10.1016/s0022-510x(99)00012-x. PMID 10371075.
- مشارکتکنندگان ویکیپدیا. «Integrin alpha 7». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۲۴ اوت ۲۰۱۹.
برای مطالعهٔ بیشتر
- Fornaro M, Languino LR (1998). "Alternatively spliced variants: a new view of the integrin cytoplasmic domain". Matrix Biol. 16 (4): 185–93. doi:10.1016/S0945-053X(97)90007-X. PMID 9402008.
- Song WK, Wang W, Foster RF, Bielser DA, Kaufman SJ (1992). "H36-alpha 7 is a novel integrin alpha chain that is developmentally regulated during skeletal myogenesis". J. Cell Biol. 117 (3): 643–57. doi:10.1083/jcb.117.3.643. PMC 2289453. PMID 1315319.
- Kramer RH, Vu MP, Cheng YF, Ramos DM, Timpl R, Waleh N (1992). "Laminin-binding integrin alpha 7 beta 1: functional characterization and expression in normal and malignant melanocytes". Cell Regul. 2 (10): 805–17. doi:10.1091/mbc.2.10.805. PMC 361876. PMID 1839357.
- Song WK, Wang W, Sato H, Bielser DA, Kaufman SJ (1994). "Expression of alpha 7 integrin cytoplasmic domains during skeletal muscle development: alternate forms, conformational change, and homologies with serine/threonine kinases and tyrosine phosphatases". J. Cell Sci. 106 (4): 1139–52. PMID 8126096.
- Ziober BL, Vu MP, Waleh N, Crawford J, Lin CS, Kramer RH (1994). "Alternative extracellular and cytoplasmic domains of the integrin alpha 7 subunit are differentially expressed during development". J. Biol. Chem. 268 (35): 26773–83. PMID 8253814.
- Martin PT, Kaufman SJ, Kramer RH, Sanes JR (1996). "Synaptic integrins in developing, adult, and mutant muscle: selective association of alpha1, alpha7A, and alpha7B integrins with the neuromuscular junction". Dev. Biol. 174 (1): 125–39. doi:10.1006/dbio.1996.0057. PMID 8626012.
- Ziober BL, Chen Y, Kramer RH (1997). "The laminin-binding activity of the alpha 7 integrin receptor is defined by developmentally regulated splicing in the extracellular domain". Mol. Biol. Cell. 8 (9): 1723–34. doi:10.1091/mbc.8.9.1723. PMC 305732. PMID 9307969.
- Basora N, Vachon PH, Herring-Gillam FE, Perreault N, Beaulieu JF (1997). "Relation between integrin alpha7Bbeta1 expression in human intestinal cells and enterocytic differentiation". Gastroenterology. 113 (5): 1510–21. doi:10.1053/gast.1997.v113.pm9352853. PMID 9352853.
- Mayer U, Saher G, Fässler R, Bornemann A, Echtermeyer F, von der Mark H, Miosge N, Pöschl E, von der Mark K (1997). "Absence of integrin alpha 7 causes a novel form of muscular dystrophy". Nat. Genet. 17 (3): 318–23. doi:10.1038/ng1197-318. PMID 9354797.
- Leung E, Lim SP, Berg R, Yang Y, Ni J, Wang SX, Krissansen GW (1998). "A novel extracellular domain variant of the human integrin alpha 7 subunit generated by alternative intron splicing". Biochem. Biophys. Res. Commun. 243 (1): 317–25. doi:10.1006/bbrc.1998.8092. PMID 9473524.
- Zolkiewska A, Thompson WC, Moss J (1998). "Interaction of integrin alpha 7 beta 1 in C2C12 myotubes and in solution with laminin". Exp. Cell Res. 240 (1): 86–94. doi:10.1006/excr.1998.4002. PMID 9570924.
- Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K (1998). "Mutations in the integrin alpha7 gene cause congenital myopathy". Nat. Genet. 19 (1): 94–7. doi:10.1038/ng0598-94. PMID 9590299.
- Vignier N, Moghadaszadeh B, Gary F, Beckmann J, Mayer U, Guicheney P (1999). "Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7)". Biochem. Biophys. Res. Commun. 260 (2): 357–64. doi:10.1006/bbrc.1999.0916. PMID 10403775.
- Tachibana I, Hemler ME (1999). "Role of transmembrane 4 superfamily (TM4SF) proteins CD9 and CD81 in muscle cell fusion and myotube maintenance". J. Cell Biol. 146 (4): 893–904. doi:10.1083/jcb.146.4.893. PMC 2156130. PMID 10459022.
- Schöber S, Mielenz D, Echtermeyer F, Hapke S, Pöschl E, von der Mark H, Moch H, von der Mark K (2000). "The role of extracellular and cytoplasmic splice domains of alpha7-integrin in cell adhesion and migration on laminins". Exp. Cell Res. 255 (2): 303–13. doi:10.1006/excr.2000.4806. PMID 10694445.
- Wixler V, Geerts D, Laplantine E, Westhoff D, Smyth N, Aumailley M, Sonnenberg A, Paulsson M (2000). "The LIM-only protein DRAL/FHL2 binds to the cytoplasmic domain of several alpha and beta integrin chains and is recruited to adhesion complexes". J. Biol. Chem. 275 (43): 33669–78. doi:10.1074/jbc.M002519200. PMID 10906324.
- Burkin DJ, Kim JE, Gu M, Kaufman SJ (2000). "Laminin and alpha7beta1 integrin regulate agrin-induced clustering of acetylcholine receptors". J. Cell Sci. 113 (16): 2877–86. PMID 10910772.
- Vizirianakis IS, Yao CC, Chen Y, Ziober BL, Tsiftsoglou AS, Kramer RH (2001). "Transfection of MCF-7 carcinoma cells with human integrin alpha7 cDNA promotes adhesion to laminin". Arch. Biochem. Biophys. 385 (1): 108–16. doi:10.1006/abbi.2000.2134. PMID 11361006.
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