호모 사피엔스 종의 단백질 코드 유전자
TFE3 식별자 에일리어스 TFE3 외부 ID OMIM : 314310 MGI : 98511 HomoloGene : 4755 GenCard : TFE3 유전자 존재론 분자 함수 GO:0000980 RNA중합효소II 시스조절영역배열특이적 DNA결합 GO:0001131, GO:000115, GO:0001130, GO:0001204 DNA결합전사인자액티비티 단백질 이량화 활성 DNA결합 GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA결합전사활성화제, RNA중합효소II 특이적 GO:0001948 단백질 결합 GO:0001200, GO:0001133, GO:0001201 DNA결합전사인자활성, RNA중합효소II 특이적 셀룰러 컴포넌트 생물학적 과정 출처: 아미고 / QuickGO
맞춤법 종. 인간 마우스 엔트레즈 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 장소(UCSC) Chr X: 49.03 ~49.04 Mb Chr X: 7.63 ~7.64 Mb PubMed 검색[3] [4] 위키데이터
전사인자 E3는 인간에서 TFE3 [5] [6] [7] 단백질 이다.
기능. TFE3는 전사인자 의 나선 루프 나선 계열의 일원인 면역글로불린 중쇄증강제의 mu-E3 모티브에 결합하고 많은 세포 유형으로 발현된다(Henthorn et al., 1991). [OMIM [7]
상호 작용 TFE3는 다음과 상호작용하는 것 으로 나타났습니다.
트랜슬레이션 젊은 환자에게 발생하는 신장암(RCC)의 비율은 염색체 Xp11.2 PRC 에서 TFE3 유전자와 관련된 전이와 관련이 있다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG000068323 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000000134 - 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 .^ Puck JM, Stewart CC, Henthorn PS (May 1991). "A high-frequency RFLP at the human TFE3 locus on the X chromosome" . Nucleic Acids Res . 19 (3): 684. doi :10.1093/nar/19.3.684-a . PMC 333678 PMID 1672758 . ^ Henthorn PS, Stewart CC, Kadesch T, Puck JM (Feb 1992). "The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22". Genomics . 11 (2): 374–8. doi :10.1016/0888-7543(91)90145-5 . PMID 1685140 . ^ a b "Entrez Gene: TFE3 transcription factor binding to IGHM enhancer 3" .^ Giangrande PH, Hallstrom TC, Tunyaplin C, Calame K, Nevins JR (Jun 2003). "Identification of E-box factor TFE3 as a functional partner for the E2F3 transcription factor" . Mol. Cell. Biol . 23 (11): 3707–20. doi :10.1128/mcb.23.11.3707-3720.2003 . PMC 155231 PMID 12748276 . ^ Steingrimsson E, Tessarollo L, Pathak B, Hou L, Arnheiter H, Copeland NG, Jenkins NA (Apr 2002). "Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development" . Proc. Natl. Acad. Sci. U.S.A . 99 (7): 4477–82. doi :10.1073/pnas.072071099 PMC 123673 PMID 11930005 . ^ Mansky KC, Sulzbacher S, Purdom G, Nelsen L, Hume DA, Rehli M, Ostrowski MC (Feb 2002). "The microphthalmia transcription factor and the related helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to activate the tartrate-resistant acid phosphatase promoter". J. Leukoc. Biol . 71 (2): 304–10. PMID 11818452 . ^ Grinberg AV, Kerppola T (Mar 2003). "Both Max and TFE3 cooperate with Smad proteins to bind the plasminogen activator inhibitor-1 promoter, but they have opposite effects on transcriptional activity" . J. Biol. Chem . 278 (13): 11227–36. doi :10.1074/jbc.M211734200 PMID 12551947 . ^ Hua X, Miller ZA, Wu G, Shi Y, Lodish HF (Nov 1999). "Specificity in transforming growth factor beta-induced transcription of the plasminogen activator inhibitor-1 gene: interactions of promoter DNA, transcription factor muE3, and Smad proteins" . Proc. Natl. Acad. Sci. U.S.A . 96 (23): 13130–5. doi :10.1073/pnas.96.23.13130 PMC 23912 PMID 10557285 .
추가 정보 Beckmann H, Kadesch T (1991). "The leucine zipper of TFE3 dictates helix-loop-helix dimerization specificity" . Genes Dev . 5 (6): 1057–66. doi :10.1101/gad.5.6.1057 PMID 2044953 . Beckmann H, Su LK, Kadesch T (1990). "TFE3: a helix-loop-helix protein that activates transcription through the immunoglobulin enhancer muE3 motif" . Genes Dev . 4 (2): 167–79. doi :10.1101/gad.4.2.167 PMID 2338243 . Zhao GQ, Zhao Q, Zhou X, Mattei MG, de Crombrugghe B (1993). "TFEC, a basic helix-loop-helix protein, forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation" . Mol. Cell. Biol . 13 (8): 4505–12. doi :10.1128/mcb.13.8.4505 . PMC 360062 PMID 8336698 . Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS (1997). "The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene" . Hum. Mol. Genet . 5 (9): 1333–8. doi :10.1093/hmg/5.9.1333 PMID 8872474 . Weterman MA, Wilbrink M, Geurts van Kessel A (1997). "Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas" . Proc. Natl. Acad. Sci. U.S.A . 93 (26): 15294–8. doi :10.1073/pnas.93.26.15294 PMC 26398 PMID 8986805 . Clark J, Lu YJ, Sidhar SK, Parker C, Gill S, Smedley D, Hamoudi R, Linehan WM, Shipley J, Cooper CS (1997). "Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma" . Oncogene . 15 (18): 2233–9. doi :10.1038/sj.onc.1201394 PMID 9393982 . Hua X, Liu X, Ansari DO, Lodish HF (1998). "Synergistic cooperation of TFE3 and smad proteins in TGF-beta-induced transcription of the plasminogen activator inhibitor-1 gene" . Genes Dev . 12 (19): 3084–95. doi :10.1101/gad.12.19.3084 . PMC 317197 PMID 9765209 . Steingrímsson E, Tessarollo L, Reid SW, Jenkins NA, Copeland NG (1999). "The bHLH-Zip transcription factor Tfeb is essential for placental vascularization" . Development . 125 (23): 4607–16. doi :10.1242/dev.125.23.4607 PMID 9806910 . Hua X, Miller ZA, Wu G, Shi Y, Lodish HF (1999). "Specificity in transforming growth factor beta-induced transcription of the plasminogen activator inhibitor-1 gene: interactions of promoter DNA, transcription factor muE3, and Smad proteins" . Proc. Natl. Acad. Sci. U.S.A . 96 (23): 13130–5. doi :10.1073/pnas.96.23.13130 PMC 23912 PMID 10557285 . Weterman MJ, van Groningen JJ, Jansen A, van Kessel AG (2000). "Nuclear localization and transactivating capacities of the papillary renal cell carcinoma-associated TFE3 and PRCC (fusion) proteins" . Oncogene . 19 (1): 69–74. doi :10.1038/sj.onc.1203255 PMID 10644981 . Hua X, Miller ZA, Benchabane H, Wrana JL, Lodish HF (2000). "Synergism between transcription factors TFE3 and Smad3 in transforming growth factor-beta-induced transcription of the Smad7 gene" . J. Biol. Chem . 275 (43): 33205–8. doi :10.1074/jbc.C000568200 PMID 10973944 . Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J (2001). "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25" . Oncogene . 20 (1): 48–57. doi :10.1038/sj.onc.1204074 PMID 11244503 . Weterman MA, van Groningen JJ, den Hartog A, Geurts van Kessel A (2001). "Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFE3PRCC fusion genes" . Oncogene . 20 (12): 1414–24. doi :10.1038/sj.onc.1204213 PMID 11313885 . Heimann P, El Housni H, Ogur G, Weterman MA, Petty EM, Vassart G (2001). "Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas". Cancer Res . 61 (10): 4130–5. PMID 11358836 . Chung MC, Kim HK, Kawamoto S (2001). "TFEC can function as a transcriptional activator of the nonmuscle myosin II heavy chain-A gene in transfected cells". Biochemistry . 40 (30): 8887–97. doi :10.1021/bi002847d . PMID 11467950 . Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences" . J. Biol. Chem . 277 (9): 7021–8. doi :10.1074/jbc.M108417200 PMID 11748221 . Kawata Y, Suzuki H, Higaki Y, Denisenko O, Schullery D, Abrass C, Bomsztyk K (2002). "bcn-1 Element-dependent activation of the laminin gamma 1 chain gene by the cooperative action of transcription factor E3 (TFE3) and Smad proteins" . J. Biol. Chem . 277 (13): 11375–84. doi :10.1074/jbc.M111284200 PMID 11801598 . Steingrimsson E, Tessarollo L, Pathak B, Hou L, Arnheiter H, Copeland NG, Jenkins NA (2002). "Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development" . Proc. Natl. Acad. Sci. U.S.A . 99 (7): 4477–82. doi :10.1073/pnas.072071099 PMC 123673 PMID 11930005 .
