甲狀腺激素β受體

甲狀腺激素β受體
已知的結構
PDB	直系同源搜尋: PDBe RCSB
PDBID列表
	1BSX、1N46、1NAX、1NQ0、1NQ1、1NQ2、1NUO、1Q4X、1R6G、1XZX、1Y0X、2J4A、2NLL、2PIN、3D57、3GWS、3IMY、3JZC、4ZO1
識別號
別名	THRB；, C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2, thyroid hormone receptor beta, TRbeta
外部ID	OMIM：190160 MGI：98743 HomoloGene：36025 GeneCards：THRB
相關疾病
	selective pituitary resistance to thyroid hormone、generalized resistance to thyroid hormone
為以下藥物的標靶
	反三碘甲狀腺原氨酸、替拉曲可、三碘甲腺原氨酸、左旋甲狀腺素鈉
基因位置（人類）
染色體	3號染色體
終止	24,495,756 bp
基因位置（小鼠）
染色體	小鼠14號染色體
終止	4,809,435 bp
RNA表達模式
	查閱更多表達數據
基因本體
分子功能	• sequence-specific DNA binding; • transcription corepressor activity; • 鋅離子結合; • 金屬離子結合; • steroid hormone receptor activity; • 血漿蛋白結合; • 酶結合; • chromatin DNA binding; • thyroid hormone binding; • DNA結合轉錄因子活性; • DNA結合; • DNA-binding transcription factor activity, RNA polymerase II-specific; • transcription cis-regulatory region binding; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • 轉錄因子結合; • nuclear receptor coactivator activity; • signaling receptor activity; • nuclear receptor activity;
細胞組分	• 核質; • 細胞核; • nuclear body; • RNA polymerase II transcription regulator complex;
生物學過程	• regulation of transcription, DNA-templated; • regulation of heart contraction; • female courtship behavior; • regulation of transcription by RNA polymerase II; • negative regulation of transcription by RNA polymerase II; • 聽覺; • type I pneumocyte differentiation; • negative regulation of female receptivity; • animal organ morphogenesis; • transcription initiation from RNA polymerase II promoter; • negative regulation of transcription, DNA-templated; • positive regulation of transcription by RNA polymerase II; • steroid hormone mediated signaling pathway; • intracellular receptor signaling pathway; • transcription, DNA-templated; • negative regulation of eye photoreceptor cell development; • retinal cone cell development; • retinal cone cell apoptotic process; • multicellular organism development; • hormone-mediated signaling pathway; • 細胞分化; • 甲狀旁腺的發生; • response to lipid; • thyroid hormone mediated signaling pathway;
	Sources:Amigo / QuickGO
直系同源
	7068
	21834
	ENSG00000151090
	ENSMUSG00000021779
	P10828
	P37242
NM_000461; NM_001128176; NM_001128177; NM_001252634; NM_001354708;
	NM_001354709; NM_001354710; NM_001354711; NM_001354712; NM_001354713; NM_001354714; NM_001354715; NM_001374822; NM_001374823; NM_001374824; NM_001374825; NM_001374826; NM_001374827
	NM_001113417; NM_009380
NP_000452; NP_001121648; NP_001121649; NP_001239563; NP_001341637;
	NP_001341638; NP_001341639; NP_001341640; NP_001341641; NP_001341642; NP_001341643; NP_001341644; NP_001361751; NP_001361752; NP_001361753; NP_001361754; NP_001361755; NP_001361756
	NP_001106888; NP_033406
	維基數據
檢視/編輯人類	檢視/編輯小鼠

甲狀腺激素β受體（TR-β，或THR-β）也稱為核受體亞家族1，A 組，成員2（NR1A2），是一種核受體蛋白，在人類中由THR-β基因編碼。^[7]^[8]

功能

該基因編碼的蛋白質為三碘甲腺原氨酸的核激素受體。它是甲狀腺激素的多種受體之一，已被證明可以調節甲狀腺激素的生物活性。小鼠基因敲除研究表明，不同的受體雖然具有一定程度的冗餘，但可能介導甲狀腺激素的不同功能。已知該基因的缺陷是導致：廣泛性甲狀腺激素抵抗（GTHR）的成因。該綜合症疾病的特徵為：甲狀腺腫大；循環甲狀腺激素（T₃-T₄）水平增加；同時促甲狀腺激素（TSH）正常或略微升高。現已發現到該基因的幾種轉錄變體，但迄今為止只觀察到一種的全長天然基因。^[9]

基因互作

甲狀腺激素β受體已被證明與以下存在基因相互作用：

參考文獻

^ 與甲状腺激素β受体相關的疾病；在維基數據上查看/編輯參考.
^ 對Thyroid hormone receptor beta起作用的藥物；在維基數據上查看/編輯參考.
^ ^3.0 ^3.1 ^3.2 GRCh38: Ensembl release 89: ENSG00000151090 - Ensembl, May 2017
^ ^4.0 ^4.1 ^4.2 GRCm38: Ensembl release 89: ENSMUSG00000021779 - Ensembl, May 2017
^ 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.
^ Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian).
^ Sakurai A, Nakai A, DeGroot LJ. Structural analysis of human thyroid hormone receptor beta gene. Mol. Cell. Endocrinol. June 1990, 71 (2): 83–91. PMID 1973914. S2CID 54389426. doi:10.1016/0303-7207(90)90245-4.
^ Entrez Gene: THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian).
^ ^10.0 ^10.1 Monden T, Wondisford FE, Hollenberg AN. Isolation and characterization of a novel ligand-dependent thyroid hormone receptor-coactivating protein. J. Biol. Chem. November 1997, 272 (47): 29834–41. PMID 9368056. doi:10.1074/jbc.272.47.29834 .
^ Lin HM, Zhao L, Cheng SY. Cyclin D1 Is a Ligand-independent Co-repressor for Thyroid Hormone Receptors. J. Biol. Chem. August 2002, 277 (32): 28733–41. PMID 12048199. doi:10.1074/jbc.M203380200 .
^ ^12.0 ^12.1 Liu Y, Takeshita A, Misiti S, Chin WW, Yen PM. Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors. Endocrinology. October 1998, 139 (10): 4197–204. PMID 9751500. doi:10.1210/endo.139.10.6218 .
^ ^13.0 ^13.1 Jeyakumar M, Tanen MR, Bagchi MK. Analysis of the functional role of steroid receptor coactivator-1 in ligand-induced transactivation by thyroid hormone receptor. Mol. Endocrinol. June 1997, 11 (6): 755–67. PMID 9171239. doi:10.1210/mend.11.6.0003 .
^ Lee SK, Jung SY, Kim YS, Na SY, Lee YC, Lee JW. Two distinct nuclear receptor-interaction domains and CREB-binding protein-dependent transactivation function of activating signal cointegrator-2. Mol. Endocrinol. February 2001, 15 (2): 241–54. PMID 11158331. doi:10.1210/mend.15.2.0595 .
^ 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. J. Biol. Chem. November 1999, 274 (48): 34283–93. PMID 10567404. doi:10.1074/jbc.274.48.34283 .
^ Ko L, Cardona GR, Chin WW. Thyroid hormone receptor-binding protein, an LXXLL motif-containing protein, functions as a general coactivator. Proc. Natl. Acad. Sci. U.S.A. May 2000, 97 (11): 6212–7. Bibcode:2000PNAS...97.6212K. PMC 18584 . PMID 10823961. doi:10.1073/pnas.97.11.6212 .
^ Ko L, Cardona GR, Iwasaki T, Bramlett KS, Burris TP, Chin WW. Ser-884 adjacent to the LXXLL motif of coactivator TRBP defines selectivity for ERs and TRs. Mol. Endocrinol. January 2002, 16 (1): 128–40. PMID 11773444. doi:10.1210/mend.16.1.0755 .
^ Tagami T, Lutz WH, Kumar R, Jameson JL. The interaction of the vitamin D receptor with nuclear receptor corepressors and coactivators. Biochem. Biophys. Res. Commun. December 1998, 253 (2): 358–63. PMID 9878542. doi:10.1006/bbrc.1998.9799.
^ Ando S, Sarlis NJ, Krishnan J, Feng X, Refetoff S, Zhang MQ, Oldfield EH, Yen PM. Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol. Endocrinol. September 2001, 15 (9): 1529–38. PMID 11518802. doi:10.1210/mend.15.9.0687 .
^ Zhu XG, Park KS, Kaneshige M, Bhat MK, Zhu Q, Mariash CN, McPhie P, Cheng SY. The orphan nuclear receptor Ear-2 is a negative coregulator for thyroid hormone nuclear receptor function. Mol. Cell. Biol. April 2000, 20 (7): 2604–18. PMC 85476 . PMID 10713182. doi:10.1128/MCB.20.7.2604-2618.2000.
^ Wu Y, Delerive P, Chin WW, Burris TP. Requirement of helix 1 and the AF-2 domain of the thyroid hormone receptor for coactivation by PGC-1. J. Biol. Chem. March 2002, 277 (11): 8898–905. PMID 11751919. doi:10.1074/jbc.M110761200 .

擴展閱讀

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Forrest D, Reh TA, Rüsch A. Neurodevelopmental control by thyroid hormone receptors. Curr. Opin. Neurobiol. 2002, 12 (1): 49–56. PMID 11861164. S2CID 2884828. doi:10.1016/S0959-4388(02)00289-1.
González-Sancho JM, García V, Bonilla F, Muñoz A. Thyroid hormone receptors/THR genes in human cancer. Cancer Lett. 2003, 192 (2): 121–32. PMID 12668276. doi:10.1016/S0304-3835(02)00614-6.
Cugini CD, Leidy JW, Chertow BS, Bérard J, Bradley WE, Menke JB, Hao EH, Usala SJ. An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity. J. Clin. Endocrinol. Metab. 1992, 74 (5): 1164–70. PMID 1314846. doi:10.1210/jcem.74.5.1314846.
Behr M, Loos U. A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance. Mol. Endocrinol. 1992, 6 (7): 1119–26. PMID 1324420. doi:10.1210/mend.6.7.1324420 .
Falcone M, Miyamoto T, Fierro-Renoy F, Macchia E, DeGroot LJ. Antipeptide polyclonal antibodies specifically recognize each human thyroid hormone receptor isoform. Endocrinology. 1992, 131 (5): 2419–29. PMID 1425440. doi:10.1210/endo.131.5.1425440.
Schmidt ED, Schmidt ED, van der Gaag R, Ganpat R, Broersma L, de Boer PA, Moorman AF, Lamers WH, Wiersinga WM, Koornneef L. Distribution of the nuclear thyroid-hormone receptor in extraocular and skeletal muscles. J. Endocrinol. 1992, 133 (1): 67–74. PMID 1517709. doi:10.1677/joe.0.1330067.
Adams M, Nagaya T, Tone Y, Jameson JL, Chatterjee VK. Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. Clin. Endocrinol. 1992, 36 (3): 281–9. PMID 1563081. S2CID 25897422. doi:10.1111/j.1365-2265.1992.tb01444.x.
Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Tanaka K, Imura H. A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. Mol. Cell. Endocrinol. 1992, 84 (3): 159–66. PMID 1587388. S2CID 24853283. doi:10.1016/0303-7207(92)90026-3.
Nagaya T, Madison LD, Jameson JL. Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes. J. Biol. Chem. 1992, 267 (18): 13014–9. PMID 1618799. doi:10.1016/S0021-9258(18)42375-7 .
Shuto Y, Wakabayashi I, Amuro N, Minami S, Okazaki T. A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone. J. Clin. Endocrinol. Metab. 1992, 75 (1): 213–7. PMID 1619012. doi:10.1210/jcem.75.1.1619012.
Näär AM, Boutin JM, Lipkin SM, Yu VC, Holloway JM, Glass CK, Rosenfeld MG. The orientation and spacing of core DNA-binding motifs dictate selective transcriptional responses to three nuclear receptors. Cell. 1991, 65 (7): 1267–79. PMID 1648451. S2CID 22572347. doi:10.1016/0092-8674(91)90021-P.
Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Bérard J, Bradley WE, Ono S, Mueller OT, Bercu BB. A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. Mol. Endocrinol. 1991, 5 (3): 327–35. PMID 1653889. doi:10.1210/mend-5-3-327 .
Bodenner DL, Mroczynski MA, Weintraub BD, Radovick S, Wondisford FE. A detailed functional and structural analysis of a major thyroid hormone inhibitory element in the human thyrotropin beta-subunit gene. J. Biol. Chem. 1991, 266 (32): 21666–73. PMID 1657975. doi:10.1016/S0021-9258(18)54688-3 .
Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD. Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain. J. Clin. Invest. 1991, 88 (6): 2123–30. PMC 295818 . PMID 1661299. doi:10.1172/JCI115542.
Usala SJ, Menke JB, Watson TL, Bérard WE, Bradley C, Bale AE, Lash RW, Weintraub BD. A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance. J. Clin. Endocrinol. Metab. 1991, 72 (1): 32–8. PMID 1846005. doi:10.1210/jcem-72-1-32.
Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J. Clin. Invest. 1990, 85 (1): 93–100. PMC 296391 . PMID 2153155. doi:10.1172/JCI114438.
Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc. Natl. Acad. Sci. U.S.A. 1989, 86 (22): 8977–81. Bibcode:1989PNAS...86.8977S. PMC 298414 . PMID 2510172. doi:10.1073/pnas.86.22.8977 .

甲狀腺激素β受體引用了美國國家醫學圖書館提供的數據，這些數據屬於公共領域。

[1] 與甲状腺激素β受体相關的疾病；在維基數據上查看/編輯參考.

[2] 對Thyroid hormone receptor beta起作用的藥物；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-3] 3.0 ^3.1 ^3.2 GRCh38: Ensembl release 89: ENSG00000151090 - Ensembl, May 2017

[refGRCm38Ensembl-4] 4.0 ^4.1 ^4.2 GRCm38: Ensembl release 89: ENSMUSG00000021779 - 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.

[entrezA-7] Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian).

[pmid1973914-8] Sakurai A, Nakai A, DeGroot LJ. Structural analysis of human thyroid hormone receptor beta gene. Mol. Cell. Endocrinol. June 1990, 71 (2): 83–91. PMID 1973914. S2CID 54389426. doi:10.1016/0303-7207(90)90245-4.

[entrezB-9] Entrez Gene: THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian).

[pmid9368056-10] 10.0 ^10.1 Monden T, Wondisford FE, Hollenberg AN. Isolation and characterization of a novel ligand-dependent thyroid hormone receptor-coactivating protein. J. Biol. Chem. November 1997, 272 (47): 29834–41. PMID 9368056. doi:10.1074/jbc.272.47.29834 .

[pmid12048199-11] Lin HM, Zhao L, Cheng SY. Cyclin D1 Is a Ligand-independent Co-repressor for Thyroid Hormone Receptors. J. Biol. Chem. August 2002, 277 (32): 28733–41. PMID 12048199. doi:10.1074/jbc.M203380200 .

[pmid9751500-12] 12.0 ^12.1 Liu Y, Takeshita A, Misiti S, Chin WW, Yen PM. Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors. Endocrinology. October 1998, 139 (10): 4197–204. PMID 9751500. doi:10.1210/endo.139.10.6218 .

[pmid9171239-13] 13.0 ^13.1 Jeyakumar M, Tanen MR, Bagchi MK. Analysis of the functional role of steroid receptor coactivator-1 in ligand-induced transactivation by thyroid hormone receptor. Mol. Endocrinol. June 1997, 11 (6): 755–67. PMID 9171239. doi:10.1210/mend.11.6.0003 .

[pmid11158331-14] Lee SK, Jung SY, Kim YS, Na SY, Lee YC, Lee JW. Two distinct nuclear receptor-interaction domains and CREB-binding protein-dependent transactivation function of activating signal cointegrator-2. Mol. Endocrinol. February 2001, 15 (2): 241–54. PMID 11158331. doi:10.1210/mend.15.2.0595 .

[pmid10567404-15] 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. J. Biol. Chem. November 1999, 274 (48): 34283–93. PMID 10567404. doi:10.1074/jbc.274.48.34283 .

[pmid10823961-16] Ko L, Cardona GR, Chin WW. Thyroid hormone receptor-binding protein, an LXXLL motif-containing protein, functions as a general coactivator. Proc. Natl. Acad. Sci. U.S.A. May 2000, 97 (11): 6212–7. Bibcode:2000PNAS...97.6212K. PMC 18584 . PMID 10823961. doi:10.1073/pnas.97.11.6212 .

[pmid11773444-17] Ko L, Cardona GR, Iwasaki T, Bramlett KS, Burris TP, Chin WW. Ser-884 adjacent to the LXXLL motif of coactivator TRBP defines selectivity for ERs and TRs. Mol. Endocrinol. January 2002, 16 (1): 128–40. PMID 11773444. doi:10.1210/mend.16.1.0755 .

[pmid9878542-18] Tagami T, Lutz WH, Kumar R, Jameson JL. The interaction of the vitamin D receptor with nuclear receptor corepressors and coactivators. Biochem. Biophys. Res. Commun. December 1998, 253 (2): 358–63. PMID 9878542. doi:10.1006/bbrc.1998.9799.

[pmid11518802-19] Ando S, Sarlis NJ, Krishnan J, Feng X, Refetoff S, Zhang MQ, Oldfield EH, Yen PM. Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol. Endocrinol. September 2001, 15 (9): 1529–38. PMID 11518802. doi:10.1210/mend.15.9.0687 .

[pmid10713182-20] Zhu XG, Park KS, Kaneshige M, Bhat MK, Zhu Q, Mariash CN, McPhie P, Cheng SY. The orphan nuclear receptor Ear-2 is a negative coregulator for thyroid hormone nuclear receptor function. Mol. Cell. Biol. April 2000, 20 (7): 2604–18. PMC 85476 . PMID 10713182. doi:10.1128/MCB.20.7.2604-2618.2000.

[pmid11751919-21] Wu Y, Delerive P, Chin WW, Burris TP. Requirement of helix 1 and the AF-2 domain of the thyroid hormone receptor for coactivation by PGC-1. J. Biol. Chem. March 2002, 277 (11): 8898–905. PMID 11751919. doi:10.1074/jbc.M110761200 .

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