Hmdb loader

Showing Protein Thyroid hormone receptor beta (HMDBP02896)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 2 metabolites
Identification
HMDB Protein ID HMDBP02896
Secondary Accession Numbers
  • 8404
Name Thyroid hormone receptor beta
Synonyms
  1. Nuclear receptor subfamily 1 group A member 2
  2. c-erbA-2
  3. c-erbA-beta
Gene Name THRB
Protein Type Enzyme
Biological Properties
General Function Involved in sequence-specific DNA binding transcription factor activity
Specific Function High affinity receptor for triiodothyronine
Pathways Not Available
Reactions Not Available
GO Classification
Component
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
Function
ion binding
cation binding
metal ion binding
binding
transition metal ion binding
zinc ion binding
receptor activity
thyroid hormone receptor activity
molecular transducer activity
signal transducer activity
nucleic acid binding
dna binding
sequence-specific dna binding
ligand-dependent nuclear receptor activity
steroid hormone receptor activity
sequence-specific dna binding transcription factor activity
Process
biological regulation
regulation of biological process
regulation of metabolic process
regulation of macromolecule metabolic process
regulation of gene expression
regulation of transcription
regulation of transcription, dna-dependent
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location Chromosome:3
Locus 3p24.2
SNPs THRB
Gene Sequence 
>1386 bp
ATGACTCCCAACAGTATGACAGAAAATGGCCTTACAGCCTGGGACAAACCGAAGCACTGT
CCAGACCGAGAACACGACTGGAAGCTAGTAGGAATGTCTGAAGCCTGCCTACATAGGAAG
AGCCATTCAGAGAGGCGCAGCACGTTGAAAAATGAACAGTCGTCGCCACATCTCATCCAG
ACCACTTGGACTAGCTCAATATTCCATCTGGACCATGATGATGTGAACGACCAGAGTGTC
TCAAGTGCCCAGACCTTCCAAACGGAGGAGAAGAAATGTAAAGGGTACATCCCCAGTTAC
TTAGACAAGGACGAGCTCTGTGTAGTGTGTGGTGACAAAGCCACCGGGTATCACTACCGC
TGTATCACGTGTGAAGGCTGCAAGGGTTTCTTTAGAAGAACCATTCAGAAAAATCTCCAT
CCATCCTATTCCTGTAAATATGAAGGAAAATGTGTCATAGACAAAGTCACGCGAAATCAG
TGCCAGGAATGTCGCTTTAAGAAATGCATCTATGTTGGCATGGCAACAGATTTGGTGCTG
GATGACAGCAAGAGGCTGGCCAAGAGGAAGCTGATAGAGGAGAACCGGGAGAAAAGACGG
CGGGAAGAGCTGCAGAAGTCCATCGGGCACAAGCCAGAGCCCACAGACGAGGAATGGGAG
CTCATCAAAACTGTCACCGAAGCCCATGTGGCGACCAACGCCCAAGGCAGCCACTGGAAG
CAAAAACGGAAATTCCTGCCAGAAGACATTGGACAAGCACCAATAGTCAATGCCCCAGAA
GGTGGAAAGGTTGACTTGGAAGCCTTCAGCCATTTTACAAAAATCATCACACCAGCAATT
ACCAGAGTGGTGGATTTTGCCAAAAAGTTGCCTATGTTTTGTGAGCTGCCATGTGAAGAC
CAGATCATCCTCCTCAAAGGCTGCTGCATGGAGATCATGTCCCTTCGCGCTGCTGTGCGC
TATGACCCAGAAAGTGAGACTTTAACCTTGAATGGGGAAATGGCAGTGACACGGGGCCAG
CTGAAAAATGGGGGTCTTGGGGTGGTGTCAGACGCCATCTTTGACCTGGGCATGTCTCTG
TCTTCTTTCAACCTGGATGACACTGAAGTAGCCCTCCTTCAGGCCGTCCTGCTGATGTCT
TCAGATCGCCCGGGGCTTGCCTGTGTTGAGAGAATAGAAAAGTACCAAGATAGTTTCCTG
CTGGCCTTTGAACACTATATCAATTACCGAAAACACCACGTGACACACTTTTGGCCAAAA
CTCCTGATGAAGGTGACAGATCTGCGGATGATAGGAGCCTGCCATGCCAGCCGCTTCCTG
CACATGAAGGTGGAATGCCCCACAGAACTCTTCCCCCCTTTGTTCTTGGAAGTGTTCGAG
GATTAG
Protein Properties
Number of Residues 461
Molecular Weight 52787.2
Theoretical pI 7.11
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence 
>Thyroid hormone receptor beta
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQ
TTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYR
CITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVL
DDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWK
QKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCED
QIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSL
SSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPK
LLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
GenBank ID Protein 193788447
UniProtKB/Swiss-Prot ID P10828
UniProtKB/Swiss-Prot Entry Name THB_HUMAN
PDB IDs
GenBank Gene ID AK096628
GeneCard ID THRB
GenAtlas ID THRB
HGNC ID HGNC:11799
References
General References
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  3. Shao W, Halachmi S, Brown M: ERAP140, a conserved tissue-specific nuclear receptor coactivator. Mol Cell Biol. 2002 May;22(10):3358-72. [PubMed:11971969 ]
  4. Rastinejad F, Perlmann T, Evans RM, Sigler PB: Structural determinants of nuclear receptor assembly on DNA direct repeats. Nature. 1995 May 18;375(6528):203-11. [PubMed:7746322 ]
  5. Weinberger C, Giguere V, Hollenberg S, Rosenfeld MG, Evans RM: Human steroid receptors and erbA proto-oncogene products: members of a new superfamily of enhancer binding proteins. Cold Spring Harb Symp Quant Biol. 1986;51 Pt 2:759-72. [PubMed:3034496 ]
  6. Weinberger C, Thompson CC, Ong ES, Lebo R, Gruol DJ, Evans RM: The c-erb-A gene encodes a thyroid hormone receptor. Nature. 1986 Dec 18-31;324(6098):641-6. [PubMed:2879243 ]
  7. Sakurai A, Nakai A, DeGroot LJ: Structural analysis of human thyroid hormone receptor beta gene. Mol Cell Endocrinol. 1990 Jun 18;71(2):83-91. [PubMed:1973914 ]
  8. Frankton S, Harvey CB, Gleason LM, Fadel A, Williams GR: Multiple messenger ribonucleic acid variants regulate cell-specific expression of human thyroid hormone receptor beta1. Mol Endocrinol. 2004 Jul;18(7):1631-42. Epub 2004 Apr 22. [PubMed:15105435 ]
  9. Flynn TR, Hollenberg AN, Cohen O, Menke JB, Usala SJ, Tollin S, Hegarty MK, Wondisford FE: A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition. J Biol Chem. 1994 Dec 30;269(52):32713-6. [PubMed:7528740 ]
  10. 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. 2000 Apr;20(7):2604-18. [PubMed:10713182 ]
  11. 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 Nov;86(22):8977-81. [PubMed:2510172 ]
  12. 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 Jan;85(1):93-100. [PubMed:2153155 ]
  13. Usala SJ, Menke JB, Watson TL, Berard 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 Jan;72(1):32-8. [PubMed:1846005 ]
  14. 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 Dec;88(6):2123-30. [PubMed:1661299 ]
  15. Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Berard 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 Mar;5(3):327-35. [PubMed:1653889 ]
  16. 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 (Oxf). 1992 Mar;36(3):281-9. [PubMed:1563081 ]
  17. Cugini CD Jr, Leidy JW Jr, Chertow BS, Berard 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 May;74(5):1164-70. [PubMed:1314846 ]
  18. 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 Jul;75(1):213-7. [PubMed:1619012 ]
  19. 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 Apr;84(3):159-66. [PubMed:1587388 ]
  20. 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 Jul;6(7):1119-26. [PubMed:1324420 ]
  21. Geffner ME, Su F, Ross NS, Hershman JM, Van Dop C, Menke JB, Hao E, Stanzak RK, Eaton T, Samuels HH, et al.: An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. J Clin Invest. 1993 Feb;91(2):538-46. [PubMed:8381821 ]
  22. Weiss RE, Weinberg M, Refetoff S: Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest. 1993 Jun;91(6):2408-15. [PubMed:8514853 ]
  23. Weiss RE, Chyna B, Duell PB, Hayashi Y, Sunthornthepvarakul T, Refetoff S: A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab. 1994 May;78(5):1253-6. [PubMed:8175986 ]
  24. Refetoff S, Weiss RE, Wing JR, Sarne D, Chyna B, Hayashi Y: Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. Thyroid. 1994 Fall;4(3):249-54. [PubMed:7833659 ]
  25. Pohlenz J, Schonberger W, Wemme H, Winterpacht A, Wirth S, Zabel B: New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone. Hum Mutat. 1996;7(1):79-81. [PubMed:8664910 ]
  26. Seto D, Weintraub BD: Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations. Hum Mutat. 1996;8(3):247-57. [PubMed:8889584 ]
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  28. Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S: Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep;91(9):3471-7. Epub 2006 Jun 27. [PubMed:16804041 ]
  29. Rivolta CM, Olcese MC, Belforte FS, Chiesa A, Gruneiro-Papendieck L, Iorcansky S, Herzovich V, Cassorla F, Gauna A, Gonzalez-Sarmiento R, Targovnik HM: Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene. Mol Cell Probes. 2009 Jun-Aug;23(3-4):148-53. doi: 10.1016/j.mcp.2009.02.002. Epub 2009 Mar 4. [PubMed:19268523 ]