آمفیفیزین

AMPH
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	1KY7, 1UTC, 3SOG, 4ATM
معین‌کننده‌ها
نام‌های دیگر	AMPH, AMPH1, amphiphysin
شناسه‌های بیرونی	OMIM: 600418 MGI: 103574 HomoloGene: 121585 GeneCards: AMPH
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۳ (موش)
پایان	19,335,091 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• GO:0001948، GO:0016582 پیوند پروتئینی; • phospholipid binding;
ترکیبات سلولی	• actin cytoskeleton; • سیتوپلاسم; • پیوند میان‌یاخته‌ای; • سیناپس; • synaptic vesicle membrane; • اسکلت سلولی; • membrane; • GO:0016023 cytoplasmic vesicle; • synaptic vesicle; • leading edge membrane; • سیتوزول; • پوسته یاخته;
فرایند زیستی	• اندوسیتوز; • chemical synaptic transmission; • membrane organization; • synaptic vesicle endocytosis;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	273
	218038
	ENSG00000078053
	ENSMUSG00000021314
	P49418
	Q7TQF7
	NM_001635، NM_139316، XM_006715689، XM_006715690، XM_006715691، XM_017011995، XM_017011996 XM_011515271، NM_001635، NM_139316، XM_006715689، XM_006715690، XM_006715691، XM_017011995، XM_017011996
	NM_001289546، XM_011244304، XM_036157984 NM_175007، NM_001289546، XM_011244304، XM_036157984
	NP_647477، XP_006715752، XP_006715753، XP_006715754، XP_011513573، XP_016867484، XP_016867485 NP_001626، NP_647477، XP_006715752، XP_006715753، XP_006715754، XP_011513573، XP_016867484، XP_016867485
	NP_778172، XP_011242606، XP_036013877 NP_001276475، NP_778172، XP_011242606، XP_036013877
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

آمفیفیزین (انگلیسی: Amphiphysin) یک پروتئین است که در انسان توسط ژن «AMPH» کُدگذاری می‌شود.^[۴]^[۵] این ژن، پروتئین مرتبط با سطح سیتوپلاسمی وزیکول‌های سیناپسی را کُدگذاری می‌کند. زیرمجموعه‌ای از بیماران مبتلا به سندرم استیف-پرسن که مبتلا به سرطان پستان نیز هستند، از نظر آنتی‌بادی ضد این پروتئین مثبت بودند. پیرایش دگرسان در این ژن منجر به تولید دو نوع رونوشت مختلف می‌شود که ایزوفرم‌های مختلفی را کدگذاری می‌کنند. انواع پیرایشی دیگری هم شرح داده شده است، اما توالی طول کامل آنها مشخص نشده است.^[۵]

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000021314 - 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.
↑ De Camilli P, Thomas A, Cofiell R, Folli F, Lichte B, Piccolo G, Meinck HM, Austoni M, et al. (December 1993). "The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer". The Journal of Experimental Medicine. 178 (6): 2219–23. doi:10.1084/jem.178.6.2219. PMC 2191289. PMID 8245793.
↑ ^۵٫۰ ^۵٫۱ "Entrez Gene: AMPH amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)".

برای مطالعهٔ بیشتر

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Yamamoto R, Li X, Winter S, Francke U, Kilimann MW (February 1995). "Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14". Human Molecular Genetics. 4 (2): 265–8. doi:10.1093/hmg/4.2.265. PMID 7757077.
David C, Solimena M, De Camilli P (August 1994). "Autoimmunity in stiff-Man syndrome with breast cancer is targeted to the C-terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161". FEBS Letters. 351 (1): 73–9. doi:10.1016/0014-5793(94)00826-4. PMID 8076697. S2CID 133561.
David C, McPherson PS, Mundigl O, de Camilli P (January 1996). "A role of amphiphysin in synaptic vesicle endocytosis suggested by its binding to dynamin in nerve terminals". Proceedings of the National Academy of Sciences of the United States of America. 93 (1): 331–5. Bibcode:1996PNAS...93..331D. doi:10.1073/pnas.93.1.331. PMC 40232. PMID 8552632.
Grabs D, Slepnev VI, Songyang Z, David C, Lynch M, Cantley LC, De Camilli P (May 1997). "The SH3 domain of amphiphysin binds the proline-rich domain of dynamin at a single site that defines a new SH3 binding consensus sequence". The Journal of Biological Chemistry. 272 (20): 13419–25. doi:10.1074/jbc.272.20.13419. PMID 9148966.
Butler MH, David C, Ochoa GC, Freyberg Z, Daniell L, Grabs D, Cremona O, De Camilli P (June 1997). "Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle". The Journal of Cell Biology. 137 (6): 1355–67. doi:10.1083/jcb.137.6.1355. PMC 2132527. PMID 9182667.
Ramjaun AR, Micheva KD, Bouchelet I, McPherson PS (June 1997). "Identification and characterization of a nerve terminal-enriched amphiphysin isoform". The Journal of Biological Chemistry. 272 (26): 16700–6. doi:10.1074/jbc.272.26.16700. PMID 9195986.
McMahon HT, Wigge P, Smith C (August 1997). "Clathrin interacts specifically with amphiphysin and is displaced by dynamin". FEBS Letters. 413 (2): 319–22. doi:10.1016/S0014-5793(97)00928-9. PMID 9280305. S2CID 42520828.
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Floyd S, Butler MH, Cremona O, David C, Freyberg Z, Zhang X, Solimena M, Tokunaga A, et al. (January 1998). "Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer". Molecular Medicine. 4 (1): 29–39. doi:10.1007/BF03401727. PMC 2230265. PMID 9513187.
Ramjaun AR, McPherson PS (June 1998). "Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites". Journal of Neurochemistry. 70 (6): 2369–76. doi:10.1046/j.1471-4159.1998.70062369.x. PMID 9603201. S2CID 21910795.
Slepnev VI, Ochoa GC, Butler MH, Grabs D, De Camilli P (August 1998). "Role of phosphorylation in regulation of the assembly of endocytic coat complexes". Science. 281 (5378): 821–4. Bibcode:1998Sci...281..821S. doi:10.1126/science.281.5378.821. PMID 9694653.
Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, Hoffmüller U, Schneider-Mergener J, Cesareni G (November 1999). "The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity". The Journal of Biological Chemistry. 274 (45): 32001–7. doi:10.1074/jbc.274.45.32001. PMID 10542231.
Slepnev VI, Ochoa GC, Butler MH, De Camilli P (June 2000). "Tandem arrangement of the clathrin and AP-2 binding domains in amphiphysin 1 and disruption of clathrin coat function by amphiphysin fragments comprising these sites". The Journal of Biological Chemistry. 275 (23): 17583–9. doi:10.1074/jbc.M910430199. PMID 10748223.
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پیوند به بیرون

مکان ژنوم AMPH انسانی و صفحهٔ جزئیات ژنی AMPH در سامانه جستجوی بانک ژنی دانشگاه کالیفرنیا، سانتا کروز.

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000021314 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8245793-4] De Camilli P, Thomas A, Cofiell R, Folli F, Lichte B, Piccolo G, Meinck HM, Austoni M, et al. (December 1993). "The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer". The Journal of Experimental Medicine. 178 (6): 2219–23. doi:10.1084/jem.178.6.2219. PMC 2191289. PMID 8245793.

[entrez-5] ۵٫۰ ^۵٫۱ "Entrez Gene: AMPH amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)".

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