Alternative titles; symbols
HGNC Approved Gene Symbol: NR6A1
Cytogenetic location: 9q33.3 Genomic coordinates (GRCh38) : 9:124,517,275-124,771,311 (from NCBI)
The nuclear receptor gene superfamily of ligand-activated transcription factors is involved in the regulation of development, growth, and reproduction. Agoulnik et al. (1998) cloned a cDNA for a new orphan nuclear receptor, termed germ cell nuclear factor (GCNF), by screening a human testis cDNA library with a mouse Gcnf probe. The full-length GCNF cDNA encodes a predicted 454-amino acid polypeptide with a molecular weight of 52 kD. Mouse Gcnf is expressed primarily in germ cells in the adult (Chen et al., 1994). By Northern blot analysis and in situ hybridization studies, Agoulnik et al. (1998) found that human GCNF is expressed at high levels only in the testis, with expression restricted to germ cells, the spermatids and late-stage spermatocytes. Southern blot analysis indicated that GCNF is a single-copy gene. Agoulnik et al. (1998) stated that 4 reported isoforms of GCNF provide evidence for alternative exon splicing in the N-terminal part of the gene.
Kapelle et al. (1997), Lei et al. (1997), and Susens and Borgmeyer (1996) also isolated cDNAs encoding human GCNF, or RTR (retinoid receptor-related testis-associated receptor). Using Northern blot analysis, Lei et al. (1997) and Susens and Borgmeyer (1996) found that GCNF is expressed as approximately 7.5- and 2.2-kb transcripts primarily in testis. Low levels of the larger mRNA were observed in various other tissues. Lei et al. (1997) reported that GCNF contains the 2 zinc finger motifs and putative ligand-binding domain characteristic of the nuclear hormone receptor superfamily. The amino acid sequences of mouse and human GCNF are 99% identical.
Using a somatic cell hybrid panel, Lei et al. (1997) mapped the NR6A1 gene to chromosome 9. By fluorescence in situ hybridization, Agoulnik et al. (1998) mapped the NR6A1 gene to 9q33-q34.1.
Agoulnik, I. Y., Cho, Y., Niederberger, C., Kieback, D. G., Cooney, A. J. Cloning, expression analysis and chromosomal localization of the human nuclear receptor gene GCNF. FEBS Lett. 424: 73-78, 1998. [PubMed: 9537518] [Full Text: https://doi.org/10.1016/s0014-5793(98)00142-2]
Chen, F., Cooney, A. J., Wang, Y., Law, S. W., O'Malley, B. W. Cloning of a novel orphan receptor (GCNF) expressed during germ cell development. Molec. Endocr. 8: 1434-1444, 1994. [PubMed: 7854358] [Full Text: https://doi.org/10.1210/mend.8.10.7854358]
Kapelle, M., Kratzschmar, J., Husemann, M., Schleuning, W.-D. cDNA cloning of two closely related forms of human germ cell nuclear factor (GCNF). Biochim. Biophys. Acta 1352: 13-17, 1997. [PubMed: 9177477] [Full Text: https://doi.org/10.1016/s0167-4781(97)00043-2]
Lei, W., Hirose, T., Zhang, L.-X., Adachi, H., Spinella, M. J., Dmitrovsky, E., Jetten, A. M. Cloning of the human orphan receptor germ cell nuclear factor/retinoid receptor-related testis-associated receptor and its differential regulation during embryonal carcinoma cell differentiation. J. Molec. Endocr. 18: 167-176, 1997. [PubMed: 9134503] [Full Text: https://doi.org/10.1677/jme.0.0180167]
Susens, U., Borgmeyer, U. Characterization of the human germ cell nuclear factor gene. Biochim. Biophys. Acta 1309: 179-182, 1996. [PubMed: 8982251] [Full Text: https://doi.org/10.1016/s0167-4781(96)00157-1]