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NR2F1

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COUP-TF1 (COUP transkripcijski faktor 1) znan i kao NR2F1 (od eng. skr. za Nuclear Receptor subfamily 2, član 1) grupe F, jest protein koji je kod ljudi kodiran genom NR2F1 sa hromosoma 5.[1][2] Ovaj protein je član receptoa jedarnih hormona iz porodice receptora steroidnih hormona.

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 423 aminokiseline, а molekulska težina 46.156 Da.[3]

1020304050
MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGAGEQQQQAGSGAPH
TPQTPGQPGAPATPGTAGDKGQGPPGSGQSQQHIECVVCGDKSSGKHYGQ
FTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVG
MRREAVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPT
SRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVS
LLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIR
IFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQC
ALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIE
TLIRDMLLSGSSFNWPYMSIQCS

Funkcija

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COUP (kokošiji ovalbuminski uzvodni promotor) faktor transkripcije veže se za ovalbuminski promotor i, zajedno sa drugim proteinom (S300-II), stimulira [ početak transkripcije.[4][5] COUP-TF1 veže se za direktna ponavljanja i palindromskom motivu 5'-AGGTCA-3 '.[6]

Interakcije

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Pokazalo se da COUP-TFI stupa u interakcije sa:

Klinički značaj

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Mutacije u ovom genu povezane su sa Bosch-Boonstra-Schaafovim sindrom optičke atrofije.[10]

Reference

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  1. ^ "Entrez Gene: NR2F1 nuclear receptor subfamily 2, group F, member 1".
  2. ^ Qiu Y, Krishnan V, Zeng Z, Gilbert DJ, Copeland NG, Gibson L, Yang-Feng T, Jenkins NA, Tsai MJ, Tsai SY (Sep 1995). "Isolation, characterization, and chromosomal localization of mouse and human COUP-TF I and II genes". Genomics. 29 (1): 240–6. doi:10.1006/geno.1995.1237. PMID 8530078.
  3. ^ "UniProt, P10589" (jezik: engleski). Pristupljeno 18. 10. 2021.
  4. ^ Sagami I, Tsai SY, Wang H, Tsai MJ, O'Malley BW (Dec 1986). "Identification of two factors required for transcription of the ovalbumin gene". Molecular and Cellular Biology. 6 (12): 4259–67. doi:10.1128/MCB.6.12.4259. PMC 367207. PMID 3796602.
  5. ^ Tsai SY, Sagami I, Wang H, Tsai MJ, O'Malley BW (Aug 1987). "Interactions between a DNA-binding transcription factor (COUP) and a non-DNA binding factor (S300-II)". Cell. 50 (5): 701–9. doi:10.1016/0092-8674(87)90328-X. PMID 3040258. S2CID 25136877.
  6. ^ Tsai SY, Tsai MJ (Apr 1997). "Chick ovalbumin upstream promoter-transcription factors (COUP-TFs): coming of age". Endocrine Reviews. 18 (2): 229–40. doi:10.1210/er.18.2.229. PMID 9101138.
  7. ^ a b Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (Apr 2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors". The Journal of Biological Chemistry. 275 (14): 10315–22. doi:10.1074/jbc.275.14.10315. PMC 2819356. PMID 10744719.
  8. ^ Dressel U, Thormeyer D, Altincicek B, Paululat A, Eggert M, Schneider S, Tenbaum SP, Renkawitz R, Baniahmad A (maj 1999). "Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily". Molecular and Cellular Biology. 19 (5): 3383–94. doi:10.1128/mcb.19.5.3383. PMC 84131. PMID 10207062.
  9. ^ Métivier R, Gay FA, Hübner MR, Flouriot G, Salbert G, Gannon F, Kah O, Pakdel F (Jul 2002). "Formation of an hER alpha-COUP-TFI complex enhances hER alpha AF-1 through Ser118 phosphorylation by MAPK". The EMBO Journal. 21 (13): 3443–53. doi:10.1093/emboj/cdf344. PMC 126093. PMID 12093745.
  10. ^ Hobbs MM, Wolters WC, Rayapati AO (2020) Bosch-Boonstra-Schaaf optic atrophy syndrome presenting as new-onset psychosis in a 32-year-old man: A case report and literature review. J Psychiatr Pract 26(1):58-62

Dopunska literatura

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Vanjski linkovi

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Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.