호모 사피엔스 종의 단백질 코드 유전자
번역개시인자 eIF-2B 서브유닛베타 는 인간에서 EIF2B2 유전자에 [5] [6] 단백질 이다.
기능. 진핵생물 개시인자-2B(EIF2B)는 단백질 합성에 필수적인 GTP 교환단백질이다. 알파(EIF2B1; MIM 606686), 베타(EIF2B2), 감마(EIF2B3; MIM 606273), 델타(EIF2B4; MIM 606687) 및 엡실론(EIF2B5; MIM 603945) 서브유닛으로 구성됩니다. EIF2B는 EIF2 결합 GDP를 [6]
상호 작용 EIF2B2는 EIF2B5 [7] NCK1 과 [8] 것 으로 나타났습니다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000119718 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000004788 - 앙상블 , 2017년 5월^ "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 .^ Yang W, Hinnebusch AG (December 1996). "Identification of a regulatory subcomplex in the guanine nucleotide exchange factor eIF2B that mediates inhibition by phosphorylated eIF2" . Mol Cell Biol . 16 (11): 6603–16. doi :10.1128/MCB.16.11.6603 . PMC 231662 PMID 8887689 . ^ a b "Entrez Gene: EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa" .^ Anthony TG, Fabian JR, Kimball SR, Jefferson LS (June 2000). "Identification of domains within the epsilon-subunit of the translation initiation factor eIF2B that are necessary for guanine nucleotide exchange activity and eIF2B holoprotein formation". Biochim. Biophys. Acta . 1492 (1): 56–62. doi :10.1016/S0167-4781(00)00062-2 . PMID 10858531 . ^ Kebache S, Zuo D, Chevet E, Larose L (April 2002). "Modulation of protein translation by Nck-1" . Proc. Natl. Acad. Sci. U.S.A. 99 (8): 5406–5411. doi :10.1073/pnas.082483399 PMC 122782 PMID 11959995 .
추가 정보 Labauge P, Fogli A, Niel F, Rodriguez D, Boespflug-Tanguy O (2007). "[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations]". Rev. Neurol. (Paris) . 163 (8–9): 793–9. doi :10.1016/s0035-3787(07)91461-7 . PMID 17878805 . Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH (1995). "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease". Nature . 375 (6534): 754–760. doi :10.1038/375754a0 . PMID 7596406 . S2CID 4308372 . Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem . 236 (1): 107–113. doi :10.1006/abio.1996.0138 . PMID 8619474 . Welsh GI, Miyamoto S, Price NT, Safer B, Proud CG (1996). "T-cell activation leads to rapid stimulation of translation initiation factor eIF2B and inactivation of glycogen synthase kinase-3" . J. Biol. Chem . 271 (19): 11410–11413. doi :10.1074/jbc.271.19.11410 PMID 8626696 . Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997). "Large-scale concatenation cDNA sequencing" . Genome Res . 7 (4): 353–8. doi :10.1101/gr.7.4.353 . PMC 139146 PMID 9110174 . Kimball SR, Heinzinger NK, Horetsky RL, Jefferson LS (1998). "Identification of interprotein interactions between the subunits of eukaryotic initiation factors eIF2 and eIF2B" . J. Biol. Chem . 273 (5): 3039–3044. doi :10.1074/jbc.273.5.3039 PMID 9446619 . Gomez E, Pavitt GD (2000). "Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation" . Mol. Cell. Biol . 20 (11): 3965–3976. doi :10.1128/MCB.20.11.3965-3976.2000 . PMC 85753 PMID 10805739 . Anthony TG, Fabian JR, Kimball SR, Jefferson LS (2000). "Identification of domains within the epsilon-subunit of the translation initiation factor eIF2B that are necessary for guanine nucleotide exchange activity and eIF2B holoprotein formation". Biochim. Biophys. Acta . 1492 (1): 56–62. doi :10.1016/S0167-4781(00)00062-2 . PMID 10858531 . Williams DD, Price NT, Loughlin AJ, Proud CG (2001). "Characterization of the mammalian initiation factor eIF2B complex as a GDP dissociation stimulator protein" . J. Biol. Chem . 276 (27): 24697–24703. doi :10.1074/jbc.M011788200 PMID 11323413 . Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS (2001). "Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter". Nat. Genet . 29 (4): 383–388. doi :10.1038/ng764 . PMID 11704758 . S2CID 20313523 . Kebache S, Zuo D, Chevet E, Larose L (2002). "Modulation of protein translation by Nck-1" . Proc. Natl. Acad. Sci. U.S.A . 99 (8): 5406–5411. doi :10.1073/pnas.082483399 PMC 122782 PMID 11959995 . Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E (2003). "A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation". Neurology . 59 (12): 1966–8. doi :10.1212/01.wnl.0000041666.76863.47 . PMID 12499492 . S2CID 13129517 . Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O (2003). "Ovarian failure related to eukaryotic initiation factor 2B mutations" . Am. J. Hum. Genet . 72 (6): 1544–1550. doi :10.1086/375404 . PMC 1180314 PMID 12707859 . van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC (2004). "eIF2B-related disorders: antenatal onset and involvement of multiple organs" . Am. J. Hum. Genet . 73 (5): 1199–1207. doi :10.1086/379524 . PMC 1180499 PMID 14566705 . Richardson JP, Mohammad SS, Pavitt GD (2004). "Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity" . Mol. Cell. Biol . 24 (6): 2352–2363. doi :10.1128/MCB.24.6.2352-2363.2004 . PMC 355856 PMID 14993275 . Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O (2005). "Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients" . Eur. J. Hum. Genet . 12 (7): 561–566. doi :10.1038/sj.ejhg.5201189 PMID 15054402 . Li W, Wang X, Van Der Knaap MS, Proud CG (2004). "Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways" . Mol. Cell. Biol . 24 (8): 3295–3306. doi :10.1128/MCB.24.8.3295-3306.2004 . PMC 381664 PMID 15060152 .
