Thyroid hormone receptor alpha
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Location (UCSC) | Chr 17: 40.06 – 40.09 Mb | Chr 11: 98.63 – 98.66 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
Thyroid hormone receptor alpha (TR-alpha) also known as nuclear receptor subfamily 1, group A, member 1 (NR1A1), is a nuclear receptor protein that in humans is encoded by the THRA gene.[5][6][7]
Function
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported.[5]
Role in pathology
Mutations of the THRA gene may cause nongoitrous congenital hypothyroidism-6, a subtype of congenital hypothyroidism.
Interactions
THR1 has been shown to
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000126351 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058756 – 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.
- ^ a b "Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)".
- PMID 6323162.
- PMID 6589608.
- PMID 10207062.
- ^ PMID 12371907.
- PMID 11713274.
- PMID 10490654.
- PMID 9653119.
- ^ PMID 10198638.
- PMID 10567404.
- PMID 10847592.
- PMID 9256431.
- S2CID 25586938.
Further reading
- Forrest D, Reh TA, Rüsch A (Feb 2002). "Neurodevelopmental control by thyroid hormone receptors". Current Opinion in Neurobiology. 12 (1): 49–56. S2CID 2884828.
- Sakurai A, Bell GI, DeGroot LJ (Oct 1992). "Dinucleotide repeat polymorphism in the human thyroid hormone receptor alpha gene (THRA1) on chromosome 17". Human Molecular Genetics. 1 (7): 553. PMID 1307263.
- Berrodin TJ, Marks MS, Ozato K, Linney E, Lazar MA (Sep 1992). "Heterodimerization among thyroid hormone receptor, retinoic acid receptor, retinoid X receptor, chicken ovalbumin upstream promoter transcription factor, and an endogenous liver protein". Molecular Endocrinology. 6 (9): 1468–78. S2CID 24291055.
- Schmidt ED, Schmidt ED, van der Gaag R, Ganpat R, Broersma L, de Boer PA, Moorman AF, Lamers WH, Wiersinga WM, Koornneef L (Apr 1992). "Distribution of the nuclear thyroid-hormone receptor in extraocular and skeletal muscles". The Journal of Endocrinology. 133 (1): 67–74. PMID 1517709.
- Yen PM, Sunday ME, Darling DS, Chin WW (Mar 1992). "Isoform-specific thyroid hormone receptor antibodies detect multiple thyroid hormone receptors in rat and human pituitaries". Endocrinology. 130 (3): 1539–46. PMID 1537303.
- Laudet V, Begue A, Henry-Duthoit C, Joubel A, Martin P, Stehelin D, Saule S (Mar 1991). "Genomic organization of the human thyroid hormone receptor alpha (c-erbA-1) gene". Nucleic Acids Research. 19 (5): 1105–12. PMID 1850510.
- Nakai A, Sakurai A, Bell GI, DeGroot LJ (Nov 1988). "Characterization of a third human thyroid hormone receptor coexpressed with other thyroid hormone receptors in several tissues". Molecular Endocrinology. 2 (11): 1087–92. PMID 2464749.
- Miyajima N, Horiuchi R, Shibuya Y, Fukushige S, Matsubara K, Toyoshima K, Yamamoto T (Apr 1989). "Two erbA homologs encoding proteins with different T3 binding capacities are transcribed from opposite DNA strands of the same genetic locus". Cell. 57 (1): 31–9. S2CID 19135678.
- Sakurai A, Nakai A, DeGroot LJ (Feb 1989). "Expression of three forms of thyroid hormone receptor in human tissues". Molecular Endocrinology. 3 (2): 392–9. PMID 2710139.
- Sap J, Muñoz A, Damm K, Goldberg Y, Ghysdael J, Leutz A, Beug H, Vennström B (1987). "The c-erb-A protein is a high-affinity receptor for thyroid hormone". Nature. 324 (6098): 635–40. S2CID 4353175.
- Nakai A, Seino S, Sakurai A, Szilak I, Bell GI, DeGroot LJ (Apr 1988). "Characterization of a thyroid hormone receptor expressed in human kidney and other tissues". Proceedings of the National Academy of Sciences of the United States of America. 85 (8): 2781–5. PMID 3357890.
- Mitelman F, Manolov G, Manolova Y, Billström R, Heim S, Kristoffersson U, Mandahl N, Ferro MT, San Roman C (Jun 1986). "High resolution chromosome analysis of constitutional and acquired t(15;17) maps c-erbA to subband 17q11.2". Cancer Genetics and Cytogenetics. 22 (2): 95–8. PMID 3458521.
- Benbrook D, Pfahl M (Nov 1987). "A novel thyroid hormone receptor encoded by a cDNA clone from a human testis library". Science. 238 (4828): 788–91. PMID 3672126.
- Pfahl M, Benbrook D (Nov 1987). "Nucleotide sequence of cDNA encoding a novel human thyroid hormone receptor". Nucleic Acids Research. 15 (22): 9613. PMID 3684612.
- Chen JD, Evans RM (Oct 1995). "A transcriptional co-repressor that interacts with nuclear hormone receptors". Nature. 377 (6548): 454–7. S2CID 4361329.
- Desai-Yajnik V, Hadzic E, Modlinger P, Malhotra S, Gechlik G, Samuels HH (Aug 1995). "Interactions of thyroid hormone receptor with the human immunodeficiency virus type 1 (HIV-1) long terminal repeat and the HIV-1 Tat transactivator". Journal of Virology. 69 (8): 5103–12. PMID 7609079.
- Lee JW, Choi HS, Gyuris J, Brent R, Moore DD (Feb 1995). "Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor". Molecular Endocrinology. 9 (2): 243–54. PMID 7776974.
- Desai-Yajnik V, Samuels HH (1994). "Regulation of the human immunodeficiency virus type 1 long terminal repeat: interactions of thyroid hormone receptor with retinoid-X receptor, nuclear factor kappa B, Sp1, and Tat". Transactions of the Association of American Physicians. 106: 13–32. PMID 8036737.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.