آپتینورین

OPTN
ساختارهای موجود
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LO4, 2LUE, 5AAZ
معین‌کننده‌ها
نام‌های دیگر	OPTN, ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP, optineurin
شناسه‌های بیرونی	OMIM: 602432 MGI: 1918898 HomoloGene: 11085 GeneCards: OPTN
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)[1]
End	5,064,051 bp[1]
الگوی گسترش RNA
	; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• protein-macromolecule adaptor activity; • protein C-terminus binding; • GO:0001948 پیوند پروتئینی; • identical protein binding; • K63-linked polyubiquitin modification-dependent protein binding; • metal ion binding; • polyubiquitin modification-dependent protein binding;
ترکیبات سلولی	• recycling endosome; • اندوزوم; • Golgi membrane; • نوکلئوپلاسم; • autophagosome; • trans-Golgi network; • perinuclear region of cytoplasm; • هسته یاخته; • دستگاه گلژی; • سیتوپلاسم; • سیتوزول; • recycling endosome membrane; • GO:0016023 cytoplasmic vesicle;
فرایند زیستی	• Golgi organization; • مرگ یاخته; • negative regulation of I-kappaB kinase/NF-kappaB signaling; • خودخواری; • cellular protein localization; • G2/M transition of mitotic cell cycle; • GO:0051636 defense response to Gram-negative bacterium; • negative regulation of receptor recycling; • vesicle-mediated transport; • regulation of I-kappaB kinase/NF-kappaB signaling; • ورارسانی پیام; • Golgi to plasma membrane protein transport; • parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization; • positive regulation of xenophagy; • positive regulation of autophagy; • cellular response to unfolded protein; • Golgi ribbon formation; • immune system process; • دستگاه ایمنی ذاتی; • protein localization to Golgi apparatus;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	10133
	71648
	ENSG00000123240
	ENSMUSG00000026672
	Q96CV9
	Q8K3K8
	NM_001008212، NM_001008213، NM_021980 NM_001008211، NM_001008212، NM_001008213، NM_021980
	XM_006497547، XM_006497548، XM_011238987، XM_011238988، NM_001356487، XM_030252089 NM_181848، XM_006497547، XM_006497548، XM_011238987، XM_011238988، NM_001356487، XM_030252089
	NP_001008213، NP_001008214، NP_068815 NP_001008212، NP_001008213، NP_001008214، NP_068815
	XP_006497610، XP_006497611، XP_011237289، XP_011237290، NP_001343416، XP_030107949 NP_862896، XP_006497610، XP_006497611، XP_011237289، XP_011237290، NP_001343416، XP_030107949
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

آپتینورین (انگلیسی: Optineurin‎) یک پروتئین است که در انسان توسط ژن «OPTN» کُدگذاری می‌شود.[4][5][6]

اهمیت بالینی

آپتینورین در بروز «آب‌سیاه با فشار طبیعی» و همچنین «آب‌سیاه زاویه باز بالغین» نقش دارد. این پروتئین از طریق مکانیسم‌هایی، موجب تنگ‌شدن عروق و همچنین آپوپتوز می‌گردد.

آپتینورین با هانتینگتین، تعامل پروتئین-پروتئین دارد.[7][8]

منابع

GRCm38: Ensembl release 89: ENSMUSG00000026672 - 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.
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M (Feb 2002). "Adult-onset primary open-angle glaucoma caused by mutations in optineurin". Science. 295 (5557): 1077–9. doi:10.1126/science.1066901. PMID 11834836.
Li Y, Kang J, Horwitz MS (Mar 1998). "Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains". Molecular and Cellular Biology. 18 (3): 1601–10. doi:10.1128/mcb.18.3.1601. PMC 108875. PMID 9488477.
"Entrez Gene: OPTN optineurin".
Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (Sep 1998). "Huntingtin interacts with a family of WW domain proteins". Human Molecular Genetics. 7 (9): 1463–74. doi:10.1093/hmg/7.9.1463. PMID 9700202.
Hattula K, Peränen J (2000). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Current Biology. 10 (24): 1603–6. doi:10.1016/S0960-9822(00)00864-2. PMID 11137014.

مشارکت‌کنندگان ویکی‌پدیا. «Optineurin». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۸ ژوئن ۲۰۱۹.

برای مطالعهٔ بیشتر

Sarfarazi M, Rezaie T (Dec 2003). "Optineurin in primary open angle glaucoma". Ophthalmology Clinics of North America. 16 (4): 529–41. doi:10.1016/S0896-1549(03)00061-0. PMID 14740994.
Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Poinoosawmy D, Crick RP (Mar 1998). "Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region". American Journal of Human Genetics. 62 (3): 641–52. doi:10.1086/301767. PMC 1376961. PMID 9497264.
Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (Sep 1998). "Huntingtin interacts with a family of WW domain proteins". Human Molecular Genetics. 7 (9): 1463–74. doi:10.1093/hmg/7.9.1463. PMID 9700202.
Fong KS, de Couet HG (Jun 1999). "Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system". Genomics. 58 (2): 146–57. doi:10.1006/geno.1999.5817. PMID 10366446.
Moreland RJ, Dresser ME, Rodgers JS, Roe BA, Conaway JW, Conaway RC, Hanas JS (May 2000). "Identification of a transcription factor IIIA-interacting protein". Nucleic Acids Research. 28 (9): 1986–93. doi:10.1093/nar/28.9.1986. PMC 103300. PMID 10756201.
Schwamborn K, Weil R, Courtois G, Whiteside ST, Israël A (Jul 2000). "Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway". The Journal of Biological Chemistry. 275 (30): 22780–9. doi:10.1074/jbc.M001500200. PMID 10807909.
Hattula K, Peränen J (2001). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Current Biology. 10 (24): 1603–6. doi:10.1016/S0960-9822(00)00864-2. PMID 11137014.
Hales CM, Griner R, Hobdy-Henderson KC, Dorn MC, Hardy D, Kumar R, Navarre J, Chan EK, Lapierre LA, Goldenring JR (Oct 2001). "Identification and characterization of a family of Rab11-interacting proteins". The Journal of Biological Chemistry. 276 (42): 39067–75. doi:10.1074/jbc.M104831200. PMID 11495908.
Vittitow J, Borrás T (Oct 2002). "Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure". Biochemical and Biophysical Research Communications. 298 (1): 67–74. doi:10.1016/S0006-291X(02)02395-1. PMID 12379221.
Kamphuis W, Schneemann A (2003). "Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation". Ophthalmic Research. 35 (2): 93–6. doi:10.1159/000069133. PMID 12646749.
Tang S, Toda Y, Kashiwagi K, Mabuchi F, Iijima H, Tsukahara S, Yamagata Z (Aug 2003). "The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene". Human Genetics. 113 (3): 276–9. doi:10.1007/s00439-003-0964-y. PMID 12811537.
Wiggs JL, Auguste J, Allingham RR, Flor JD, Pericak-Vance MA, Rogers K, LaRocque KR, Graham FL, Broomer B, Del Bono E, Haines JL, Hauser M (Aug 2003). "Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma". Archives of Ophthalmology. 121 (8): 1181–3. doi:10.1001/archopht.121.8.1181. PMC 1361284. PMID 12912697.
Aung T, Ebenezer ND, Brice G, Child AH, Prescott Q, Lehmann OJ, Hitchings RA, Bhattacharya SS (Aug 2003). "Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing". Journal of Medical Genetics. 40 (8): 101e–101. doi:10.1136/jmg.40.8.e101. PMC 1735547. PMID 12920093.
Leung YF, Fan BJ, Lam DS, Lee WS, Tam PO, Chua JK, Tham CC, Lai JS, Fan DS, Pang CP (Sep 2003). "Different optineurin mutation pattern in primary open-angle glaucoma". Investigative Ophthalmology & Visual Science. 44 (9): 3880–4. doi:10.1167/iovs.02-0693. PMID 12939304.
Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT, Khanna CL, Yamamoto T, Mackey DA, Roos BR, Affatigato LM, Sheffield VC, Stone EM (Nov 2003). "Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma". American Journal of Ophthalmology. 136 (5): 904–10. doi:10.1016/S0002-9394(03)00577-4. PMID 14597044.

پیوند به بیرون

مکان ژن انسانی OPTN در مرورگر ژنومی UCSC.
جزئیات ژن انسانی OPTN در مرورگر ژنومی UCSC.

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000026672 - 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.

[pmid11834836-4] Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M (Feb 2002). "Adult-onset primary open-angle glaucoma caused by mutations in optineurin". Science. 295 (5557): 1077–9. doi:10.1126/science.1066901. PMID 11834836.

[pmid9488477-5] Li Y, Kang J, Horwitz MS (Mar 1998). "Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains". Molecular and Cellular Biology. 18 (3): 1601–10. doi:10.1128/mcb.18.3.1601. PMC 108875. PMID 9488477.

[entrez-6] "Entrez Gene: OPTN optineurin".

[pmid9700202-7] Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (Sep 1998). "Huntingtin interacts with a family of WW domain proteins". Human Molecular Genetics. 7 (9): 1463–74. doi:10.1093/hmg/7.9.1463. PMID 9700202.

[pmid11137014-8] Hattula K, Peränen J (2000). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Current Biology. 10 (24): 1603–6. doi:10.1016/S0960-9822(00)00864-2. PMID 11137014.