甲状腺激素α受体

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 PDBID列表 1NAV、​2H77、​2H79、​3HZF、​3ILZ、​3JZB、​4LNW、​4LNX
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ID	OMIM：190120 MGI：98742 HomoloGene：37747 GeneCards：THRA
相關疾病
congenital nongoitrous hypothryoidism 6^[1]
為以下藥物的標靶
DL-3,3',5'-triiodothyronine、​tiratricol、​三碘甲腺原氨酸、​左旋甲狀腺素鈉^[2]
基因位置（人类） 染色体 17號染色體^[3] 基因座 17q21.1 起始 40,058,290 bp^[3] 终止 40,093,867 bp^[3]
基因位置（小鼠） 染色体 小鼠11号染色体^[4] 基因座 11 D|11 62.58 cM 起始 98,631,464 bp^[4] 终止 98,659,832 bp^[4]
RNA表达模式
查阅更多表达数据
基因本體 分子功能 • transcription cis-regulatory region binding • 血浆蛋白结合 • single-stranded RNA binding • 鋅離子結合 • chromatin DNA binding • nuclear receptor activity • steroid receptor RNA activator RNA binding • 转录因子结合 • TBP-class protein binding • steroid hormone receptor activity • DNA结合 • protein domain specific binding • sequence-specific DNA binding • 金屬離子結合 • DNA结合转录因子活性 • thyroid hormone binding • DNA-binding transcription factor activity, RNA polymerase II-specific • 大分子复合物结合 • RNA polymerase II transcription regulatory region sequence-specific DNA binding • nuclear receptor coactivator activity • signaling receptor activity 細胞組分 • 細胞質 • 核质 • 细胞核 • 细胞质基质 • RNA polymerase II transcription regulator complex 生物學過程 • regulation of transcription by RNA polymerase II • response to cold • cytoplasmic sequestering of transcription factor • hormone-mediated signaling pathway • regulation of thyroid hormone mediated signaling pathway • 甲状旁腺的发生 • regulation of transcription, DNA-templated • 成骨作用 • female courtship behavior • cartilage condensation • negative regulation of RNA polymerase II transcription preinitiation complex assembly • type I pneumocyte differentiation • transcription, DNA-templated • steroid hormone mediated signaling pathway • transcription by RNA polymerase II • regulation of lipid catabolic process • regulation of heart contraction • animal organ morphogenesis • positive regulation of female receptivity • 学习和记忆 • regulation of myeloid cell apoptotic process • positive regulation of transcription by RNA polymerase II • transcription initiation from RNA polymerase II promoter • erythrocyte differentiation • negative regulation of DNA-templated transcription, initiation • positive regulation of myotube differentiation • negative regulation of transcription, DNA-templated • intracellular receptor signaling pathway • negative regulation of transcription by RNA polymerase II • thyroid hormone mediated signaling pathway • multicellular organism development • brain development • 细胞分化 • response to lipid • positive regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
直系同源
物種	人類	小鼠
Entrez	7067	21833
Ensembl	ENSG00000126351	ENSMUSG00000058756
UniProt	P10827	P63058
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 Mb	Chr 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：

• COPS2,^[10]
• EP300,^[11]
• ITGB3BP,^[12][13]
• MED1,^[14]
• MED6,^[15]
• MED12,^[15]
• MED16,^[15]
• MEF2A,^[11]
• NCOA6,^[16][17]
• TRIP11,^[18]
• UBC.^[19]

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. GRCh38: Ensembl release 89: ENSG00000126351 - Ensembl, May 2017
4. 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. Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian). 
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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. 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. 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. 

扩展阅读

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