甲状腺激素α受体

位於17號人類染色體的基因

甲状腺激素α受体(THR-α,TR-α),也称:核受体家族1, A组, 成员1 (NR1A1),是一类核受体蛋白,在人类中由THR-α基因编码。[7][8][9]

甲状腺激素α受体
已知的結構
PDB直系同源搜索: PDBe RCSB
識別號
别名THRA;, AR7, CHNG6, EAR7, ERB-T-1, ERBA, ERBA1, NR1A1, THRA1, THRA2, c-ERBA-1, thyroid hormone receptor, alpha, thyroid hormone receptor alpha, TRalpha
外部IDOMIM190120 MGI98742 HomoloGene37747 GeneCardsTHRA
相關疾病
congenital nongoitrous hypothryoidism 6[1]
為以下藥物的標靶
反三碘甲状腺原氨酸、​替拉曲可、​三碘甲腺原氨酸、​左旋甲狀腺素鈉[2]
基因位置(人类
17號染色體
染色体17號染色體[3]
17號染色體
甲状腺激素α受体的基因位置
甲状腺激素α受体的基因位置
基因座17q21.1起始40,058,290 bp[3]
终止40,093,867 bp[3]
RNA表达模式


查阅更多表达数据
直系同源
物種人類小鼠
Entrez
Ensembl
UniProt
mRNA​序列

NM_199334
​NM_001190918
​NM_001190919
​NM_003250

NM_178060
​NM_001313983

蛋白序列

NP_001177847
​NP_001177848
​NP_003241
​NP_955366

NP_001300912
​NP_835161

基因位置​(UCSC)Chr 17: 40.06 – 40.09 MbChr 11: 98.63 – 98.66 Mb
PubMed​查找[5][6]
維基數據
檢視/編輯人類檢視/編輯小鼠

功能

该基因编码的蛋白质为三碘甲腺原氨酸的核激素受体。它是甲状腺激素多种受体之一,已被证明可以调节甲状腺激素的生物活性, 小鼠敲除实验表明不同的受体虽然具有一定程度的冗余,但可能介导甲状腺激素的不同功能。[7]

病理学作用

THRA基因突变可能导致甲状腺功能减退症, 一种先天性甲状腺机能低下症亚型。

基因相互作用

甲状腺激素受体 α 已被证明与以下存在基因相互作用

参考文献

  1. ^ 與甲状腺激素α受体相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 對thyroid hormone receptor alpha起作用的藥物;在維基數據上查看/編輯參考. 
  3. ^ 3.0 3.1 3.2 GRCh38: Ensembl release 89: ENSG00000126351 - Ensembl, May 2017
  4. ^ 4.0 4.1 4.2 GRCm38: Ensembl release 89: ENSMUSG00000058756 - Ensembl, May 2017
  5. ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  6. ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  7. ^ 7.0 7.1 Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian). 
  8. ^ Spurr NK, Solomon E, Jansson M, Sheer D, Goodfellow PN, Bodmer WF, Vennstrom B. Chromosomal localisation of the human homologues to the oncogenes erbA and B. The EMBO Journal. Jan 1984, 3 (1): 159–63. PMC 557313 . PMID 6323162. doi:10.1002/j.1460-2075.1984.tb01777.x. 
  9. ^ Dayton AI, Selden JR, Laws G, Dorney DJ, Finan J, Tripputi P, Emanuel BS, Rovera G, Nowell PC, Croce CM. A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia. Proceedings of the National Academy of Sciences of the United States of America. Jul 1984, 81 (14): 4495–9. Bibcode:1984PNAS...81.4495D. PMC 345617 . PMID 6589608. doi:10.1073/pnas.81.14.4495 . 
  10. ^ Dressel U, Thormeyer D, Altincicek B, Paululat A, Eggert M, Schneider S, Tenbaum SP, Renkawitz R, Baniahmad A. Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily. Molecular and Cellular Biology. May 1999, 19 (5): 3383–94. PMC 84131 . PMID 10207062. doi:10.1128/mcb.19.5.3383. 
  11. ^ 11.0 11.1 De Luca A, Severino A, De Paolis P, Cottone G, De Luca L, De Falco M, Porcellini A, Volpe M, Condorelli G. p300/cAMP-response-element-binding-protein ('CREB')-binding protein (CBP) modulates co-operation between myocyte enhancer factor 2A (MEF2A) and thyroid hormone receptor-retinoid X receptor. The Biochemical Journal. Feb 2003, 369 (Pt 3): 477–84. PMC 1223100 . PMID 12371907. doi:10.1042/BJ20020057. 
  12. ^ Li D, Wang F, Samuels HH. Domain structure of the NRIF3 family of coregulators suggests potential dual roles in transcriptional regulation. Molecular and Cellular Biology. Dec 2001, 21 (24): 8371–84. PMC 100002 . PMID 11713274. doi:10.1128/MCB.21.24.8371-8384.2001. 
  13. ^ Li D, Desai-Yajnik V, Lo E, Schapira M, Abagyan R, Samuels HH. NRIF3 is a novel coactivator mediating functional specificity of nuclear hormone receptors. Molecular and Cellular Biology. Oct 1999, 19 (10): 7191–202. PMC 84712 . PMID 10490654. doi:10.1128/mcb.19.10.7191. 
  14. ^ Yuan CX, Ito M, Fondell JD, Fu ZY, Roeder RG. The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion. Proceedings of the National Academy of Sciences of the United States of America. Jul 1998, 95 (14): 7939–44. Bibcode:1998PNAS...95.7939Y. PMC 20908 . PMID 9653119. doi:10.1073/pnas.95.14.7939 . 
  15. ^ 15.0 15.1 15.2 Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG. Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. Molecular Cell. Mar 1999, 3 (3): 361–70. PMID 10198638. doi:10.1016/S1097-2765(00)80463-3 . 
  16. ^ Lee SK, Anzick SL, Choi JE, Bubendorf L, Guan XY, Jung YK, Kallioniemi OP, Kononen J, Trent JM, Azorsa D, Jhun BH, Cheong JH, Lee YC, Meltzer PS, Lee JW. A nuclear factor, ASC-2, as a cancer-amplified transcriptional coactivator essential for ligand-dependent transactivation by nuclear receptors in vivo. The Journal of Biological Chemistry. Nov 1999, 274 (48): 34283–93. PMID 10567404. doi:10.1074/jbc.274.48.34283 . 
  17. ^ Lee SK, Na SY, Jung SY, Choi JE, Jhun BH, Cheong J, Meltzer PS, Lee YC, Lee JW. Activating protein-1, nuclear factor-kappaB, and serum response factor as novel target molecules of the cancer-amplified transcription coactivator ASC-2. Molecular Endocrinology. Jun 2000, 14 (6): 915–25. PMID 10847592. doi:10.1210/mend.14.6.0471 . 
  18. ^ Chang KH, Chen Y, Chen TT, Chou WH, Chen PL, Ma YY, Yang-Feng TL, Leng X, Tsai MJ, O'Malley BW, Lee WH. A thyroid hormone receptor coactivator negatively regulated by the retinoblastoma protein. Proceedings of the National Academy of Sciences of the United States of America. Aug 1997, 94 (17): 9040–5. Bibcode:1997PNAS...94.9040C. PMC 23019 . PMID 9256431. doi:10.1073/pnas.94.17.9040 . 
  19. ^ Tan F, Lu L, Cai Y, Wang J, Xie Y, Wang L, Gong Y, Xu BE, Wu J, Luo Y, Qiang B, Yuan J, Sun X, Peng X. Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells. Proteomics. Jul 2008, 8 (14): 2885–96. PMID 18655026. S2CID 25586938. doi:10.1002/pmic.200700887. 

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