DLG1
هومولوگ بزرگ ۱ دیسک (انگلیسی: Discs large homolog 1) که با نام پروتئین شماره ۹۷ مرتبط با سیناپس یا SAP97 هم شناخته میشود، یک پروتئین است که در انسان توسط ژن «SAP97» کُدگذاری میشود.
این پروتئین در تمامی سلولهای بافت پوششی بدن انسان و بهخصوص در مغز و کلیه بیان میشود.[۵] در مغز، این مولکول در انتقال مواد از شبکه آندوپلاسمی به پوسته یاخته از طریق کانال یونی دریچه-لیگاندی نقش دارد.[۶] از طرفی، افزایش تولید این پروتئین در پستانداران سبب افزایش قدرت سیناپسی میگردد.[۷]
در موشها اگر این پروتئین موجود نباشد، لبشکری و نارسایی کلیه حاصل میشود.[۸][۹]
در انسان، جهش در این ژن سبب بروز بیماری کرون میگردد.[۱۰]
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCh38: Ensembl release 89: ENSG00000075711 – Ensembl, May 2017
- ↑ ۲٫۰ ۲٫۱ ۲٫۲ GRCm38: Ensembl release 89: ENSMUSG00000022770 – 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.
- ↑ Müller BM, Kistner U, Veh RW, Cases-Langhoff C, Becker B, Gundelfinger ED, Garner CC (Mar 1995). "Molecular characterization and spatial distribution of SAP97, a novel presynaptic protein homologous to SAP90 and the Drosophila discs-large tumor suppressor protein". The Journal of Neuroscience. 15 (3 Pt 2): 2354–66. PMID 7891172.
- ↑ Sans N, Racca C, Petralia RS, Wang YX, McCallum J, Wenthold RJ (Oct 2001). "Synapse-associated protein 97 selectively associates with a subset of AMPA receptors early in their biosynthetic pathway". The Journal of Neuroscience. 21 (19): 7506–16. PMID 11567040.
- ↑ Rumbaugh G, Sia GM, Garner CC, Huganir RL (Jun 2003). "Synapse-associated protein-97 isoform-specific regulation of surface AMPA receptors and synaptic function in cultured neurons". The Journal of Neuroscience. 23 (11): 4567–76. PMID 12805297.
- ↑ Caruana G, Bernstein A (Mar 2001). "Craniofacial dysmorphogenesis including cleft palate in mice with an insertional mutation in the discs large gene". Molecular and Cellular Biology. 21 (5): 1475–83. doi:10.1128/MCB.21.5.1475-1483.2001. PMC 86693. PMID 11238884.
- ↑ Mahoney ZX, Sammut B, Xavier RJ, Cunningham J, Go G, Brim KL, Stappenbeck TS, Miner JH, Swat W (Dec 2006). "Discs-large homolog 1 regulates smooth muscle orientation in the mouse ureter". Proceedings of the National Academy of Sciences of the United States of America. 103 (52): 19872–7. doi:10.1073/pnas.0609326103. PMC 1750896. PMID 17172448.
- ↑ Xu S, Zhou F, Tao J, Song L, Ng SC, Wang X, Chen L, Yi F, Ran Z, Zhou R, Xia B (2014). "Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study". PLOS ONE. 9 (6): e99807. doi:10.1371/journal.pone.0099807. PMC 4061034. PMID 24937328.
{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) نگهداری یادکرد:شماره مقاله بهجای شماره صفحه (رده)
- مشارکتکنندگان ویکیپدیا. «DLG1». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۳۰ دسامبر ۲۰۱۸.
برای مطالعهٔ بیشتر
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{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) - Horio Y, Hibino H, Inanobe A, Yamada M, Ishii M, Tada Y, Satoh E, Hata Y, Takai Y, Kurachi Y (May 1997). "Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90". The Journal of Biological Chemistry. 272 (20): 12885–8. doi:10.1074/jbc.272.20.12885. PMID 9148889.
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{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) - Reuver SM, Garner CC (Apr 1998). "E-cadherin mediated cell adhesion recruits SAP97 into the cortical cytoskeleton". Journal of Cell Science. 111 (8): 1071–80. PMID 9512503.
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