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Gene Review

NR1D1  -  nuclear receptor subfamily 1, group D,...

Homo sapiens

Synonyms: EAR-1, EAR1, HREV, Nuclear receptor subfamily 1 group D member 1, Rev-ErbAalpha, ...
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Disease relevance of NR1D1


High impact information on NR1D1

  • Two erbA homologs, termed ear-1 and ear-7, are present in the human genome on chromosome 17 [5].
  • The corresponding PLA2 gene is revealed to be an orthologue of terminal ear1, a maize (Zea mays) gene that encodes a MEI2-like RNA binding protein [6].
  • Interestingly, the only marker not showing recombination with the disease locus was an intragenic marker of the thyroid-hormone receptor alpha1 (THRA1) gene, which generated a LOD score of 12.84 at straight theta=.00 [4].
  • In order to pinpoint the locale of the gene for early-onset familial breast and ovarian cancer (BRCA1), polymorphisms were developed within the locus for thyroid hormone receptor alpha (THRA1) and for several anonymous sequences at chromosome 17q12-q21 [3].
  • The THRA1 polymorphism is a dinucleotide repeat with 10 alleles and heterozygosity.79 [3].

Biological context of NR1D1


Anatomical context of NR1D1


Associations of NR1D1 with chemical compounds


Other interactions of NR1D1

  • Identification and characterization of a novel corepressor interaction region in RVR and Rev-erbA alpha [13].
  • ROR(alpha) (NR1F1) and Reverb(alpha) (NR1D1) are two members of this family whose biological functions are largely unknown [17].
  • In conclusion, these data from two independent approaches demonstrate that repression by Rev-erbA alpha and RVR is mediated by an interaction of ID-I and ID-II of N-CoR, RIP13a and delta1 with the putative ligand binding domain of the orphan receptors [9].
  • Because all three genes hybridized to DNA fragments of different lengths it seems unlikely that the gene for 17-HSD is located very close to THRA1 and ERBB2 [18].
  • METHODS: Expression of Rev-ErbAalpha was analyzed at both the messenger RNA and protein levels in human and bovine articular cartilage and chondrocytes by real-time polymerase chain reaction (TaqMan) and immunocytochemical techniques [2].

Analytical, diagnostic and therapeutic context of NR1D1


  1. Correlation between long-term survival in breast cancer patients and amplification of two putative oncogene-coamplification units: hst-1/int-2 and c-erbB-2/ear-1. Tsuda, H., Hirohashi, S., Shimosato, Y., Hirota, T., Tsugane, S., Yamamoto, H., Miyajima, N., Toyoshima, K., Yamamoto, T., Yokota, J. Cancer Res. (1989) [Pubmed]
  2. Functional characterization of an orphan nuclear receptor, Rev-ErbAalpha, in chondrocytes and its potential role in osteoarthritis. Chaturvedi, P., Pratta, M., Steplewski, K., Connor, J., Kumar, S. Arthritis Rheum. (2006) [Pubmed]
  3. THRA1 and D17S183 flank an interval of < 4 cM for the breast-ovarian cancer gene (BRCA1) on chromosome 17q21. Bowcock, A.M., Anderson, L.A., Friedman, L.S., Black, D.M., Osborne-Lawrence, S., Rowell, S.E., Hall, J.M., Solomon, E., King, M.C. Am. J. Hum. Genet. (1993) [Pubmed]
  4. Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. Van Hul, W., Balemans, W., Van Hul, E., Dikkers, F.G., Obee, H., Stokroos, R.J., Hildering, P., Vanhoenacker, F., Van Camp, G., Willems, P.J. Am. J. Hum. Genet. (1998) [Pubmed]
  5. Two erbA homologs encoding proteins with different T3 binding capacities are transcribed from opposite DNA strands of the same genetic locus. Miyajima, N., Horiuchi, R., Shibuya, Y., Fukushige, S., Matsubara, K., Toyoshima, K., Yamamoto, T. Cell (1989) [Pubmed]
  6. PLASTOCHRON2 regulates leaf initiation and maturation in rice. Kawakatsu, T., Itoh, J., Miyoshi, K., Kurata, N., Alvarez, N., Veit, B., Nagato, Y. Plant Cell (2006) [Pubmed]
  7. Isolation of a cDNA encoding human Rev-ErbA alpha: transcription from the noncoding DNA strand of a thyroid hormone receptor gene results in a related protein that does not bind thyroid hormone. Lazar, M.A., Jones, K.E., Chin, W.W. DNA Cell Biol. (1990) [Pubmed]
  8. Inhibition of c-erbA mRNA splicing by a naturally occurring antisense RNA. Munroe, S.H., Lazar, M.A. J. Biol. Chem. (1991) [Pubmed]
  9. Two receptor interaction domains in the corepressor, N-CoR/RIP13, are required for an efficient interaction with Rev-erbA alpha and RVR: physical association is dependent on the E region of the orphan receptors. Downes, M., Burke, L.J., Bailey, P.J., Muscat, G.E. Nucleic Acids Res. (1996) [Pubmed]
  10. Dinucleotide repeat polymorphism in the human thyroid hormone receptor alpha gene (THRA1) on chromosome 17. Sakurai, A., Bell, G.I., DeGroot, L.J. Hum. Mol. Genet. (1992) [Pubmed]
  11. Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line. Futreal, P.A., Cochran, C., Marks, J.R., Iglehart, J.D., Zimmerman, W., Barrett, J.C., Wiseman, R.W. Cancer Res. (1994) [Pubmed]
  12. The orphan nuclear receptor Rev-Erbalpha is a peroxisome proliferator-activated receptor (PPAR) gamma target gene and promotes PPARgamma-induced adipocyte differentiation. Fontaine, C., Dubois, G., Duguay, Y., Helledie, T., Vu-Dac, N., Gervois, P., Soncin, F., Mandrup, S., Fruchart, J.C., Fruchart-Najib, J., Staels, B. J. Biol. Chem. (2003) [Pubmed]
  13. Identification and characterization of a novel corepressor interaction region in RVR and Rev-erbA alpha. Burke, L.J., Downes, M., Laudet, V., Muscat, G.E. Mol. Endocrinol. (1998) [Pubmed]
  14. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Cheng, H., Khanna, H., Oh, E.C., Hicks, D., Mitton, K.P., Swaroop, A. Hum. Mol. Genet. (2004) [Pubmed]
  15. Transcriptional repression by Rev-erbA alpha is dependent on the signature motif and helix 5 in the ligand binding domain: silencing does not involve an interaction with N-CoR. Downes, M., Burke, L.J., Muscat, G.E. Nucleic Acids Res. (1996) [Pubmed]
  16. Characterization of a functional promoter for the human thyroid hormone receptor alpha (c-erbA-1) gene. Laudet, V., Vanacker, J.M., Adelmant, G., Begue, A., Stehelin, D. Oncogene (1993) [Pubmed]
  17. Identification of Reverb(alpha) as a novel ROR(alpha) target gene. Delerive, P., Chin, W.W., Suen, C.S. J. Biol. Chem. (2002) [Pubmed]
  18. The gene for 17 beta-hydroxysteroid dehydrogenase maps to human chromosome 17, bands q12-q21, and shows an RFLP with ScaI. Winqvist, R., Peltoketo, H., Isomaa, V., Grzeschik, K.H., Mannermaa, A., Vihko, R. Hum. Genet. (1990) [Pubmed]
  19. Identification of T- and B-cell epitopes associated with a restricted component of the Epstein-Barr virus-induced early antigen complex. Pothen, S., Cao, T., Smith, R., Levine, P.H., Levine, A., Pearson, G.R. Int. J. Cancer (1993) [Pubmed]
  20. Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms. Baida, A., Farrington, S.M., Galofré, P., Marcos, R., Velázquez, A. Cancer Epidemiol. Biomarkers Prev. (2005) [Pubmed]
  21. Expression patterns of TEL genes in Poaceae suggest a conserved association with cell differentiation. Paquet, N., Bernadet, M., Morin, H., Traas, J., Dron, M., Charon, C. J. Exp. Bot. (2005) [Pubmed]
  22. Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17. French, D.L., Coller, B.S., Usher, S., Berkowitz, R., Eng, C., Seligsohn, U., Peretz, H. Br. J. Haematol. (1998) [Pubmed]
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