Germ cell nuclear factor

The germ cell nuclear factor (GCNF), also known as RTR (retinoid receptor-related testis-associated receptor) or NR6A1 (nuclear receptor subfamily 6, group A, member 1), is a protein that in humans is encoded by the NR6A1 gene.[5][6] GCNF is a member of the nuclear receptor family of intracellular transcription factors .

NR6A1
Identifiers
Aliases	NR6A1, CT150, GCNF, GCNF1, NR61, RTR, hGCNF, hRTR, nuclear receptor subfamily 6 group A member 1
External IDs	OMIM: 602778 MGI: 1352459 HomoloGene: 36308 GeneCards: NR6A1
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q33.3 Start 124,517,275 bp[1] End 124,771,311 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 B Start 38,723,370 bp[2] End 38,927,688 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • protein homodimerization activity • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • zinc ion binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • metal ion binding • steroid hormone receptor activity • GO:0038050, GO:0004886, GO:0038051 nuclear receptor activity • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • nucleoplasm • cell nucleus • transcription factor complex Biological process • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • gamete generation • spermatogenesis • transcription initiation from RNA polymerase II promoter • cellular proliferation • positive regulation of transcription from RNA polymerase II promoter • intracellular steroid hormone receptor signaling pathway • intracellular receptor signaling pathway • steroid hormone mediated signaling pathway • transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2649	14536
Ensembl	ENSG00000148200	ENSMUSG00000063972
UniProt	Q15406	Q64249
RefSeq (mRNA)	NM_001278546 NM_001489 NM_033334 NM_033335	NM_001159548 NM_001159549 NM_010264
RefSeq (protein)	NP_001265475 NP_001480 NP_201591 NP_201591.2	NP_001153020 NP_001153021 NP_034394
Location (UCSC)	Chr 9: 124.52 – 124.77 Mb	Chr 2: 38.72 – 38.93 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

In adults, GCNH is expressed mainly in the germ cells of gonads and is involved in the regulation of embryogenesis and germ cell differentiation.[7]

Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. The gene expresses three alternatively spliced transcript variants.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000148200 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000063972 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Lei W, Hirose T, Zhang LX, Adachi H, Spinella MJ, Dmitrovsky E, Jetten AM (Apr 1997). "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". Journal of Molecular Endocrinology. 18 (2): 167–76. doi:10.1677/jme.0.0180167. PMID 9134503.
6. Süsens U, Borgmeyer U (Dec 1996). "Characterization of the human germ cell nuclear factor gene". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1309 (3): 179–82. doi:10.1016/s0167-4781(96)00157-1. PMID 8982251.
7. Zechel C (Dec 2005). "The germ cell nuclear factor (GCNF)". Molecular Reproduction and Development. 72 (4): 550–6. doi:10.1002/mrd.20377. PMID 16155958.
8. "Entrez Gene: NR6A1 nuclear receptor subfamily 6, group A, member 1".

Further reading

• Greschik H, Schüle R (1999). "Germ cell nuclear factor: an orphan receptor with unexpected properties". Journal of Molecular Medicine. 76 (12): 800–10. doi:10.1007/s001090050284. PMID 9846950.
• Hirose T, O'Brien DA, Jetten AM (Jan 1995). "RTR: a new member of the nuclear receptor superfamily that is highly expressed in murine testis". Gene. 152 (2): 247–51. doi:10.1016/0378-1119(94)00656-D. PMID 7835709.
• Yan ZH, Medvedev A, Hirose T, Gotoh H, Jetten AM (Apr 1997). "Characterization of the response element and DNA binding properties of the nuclear orphan receptor germ cell nuclear factor/retinoid receptor-related testis-associated receptor". The Journal of Biological Chemistry. 272 (16): 10565–72. doi:10.1074/jbc.272.16.10565. PMID 9099702.
• Kapelle M, Krätzschmar J, Husemann M, Schleuning WD (May 1997). "cDNA cloning of two closely related forms of human germ cell nuclear factor (GCNF)". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1352 (1): 13–7. doi:10.1016/s0167-4781(97)00043-2. PMID 9177477.
• Agoulnik IY, Cho Y, Niederberger C, Kieback DG, Cooney AJ (Mar 1998). "Cloning, expression analysis and chromosomal localization of the human nuclear receptor gene GCNF". FEBS Letters. 424 (1–2): 73–8. doi:10.1016/S0014-5793(98)00142-2. PMID 9537518.
• Greschik H, Wurtz JM, Hublitz P, Köhler F, Moras D, Schüle R (Jan 1999). "Characterization of the DNA-binding and dimerization properties of the nuclear orphan receptor germ cell nuclear factor". Molecular and Cellular Biology. 19 (1): 690–703. doi:10.1128/mcb.19.1.690. PMC 83926. PMID 9858592.
• Schmitz TP, Süsens U, Borgmeyer U (Sep 1999). "DNA binding, protein interaction and differential expression of the human germ cell nuclear factor". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1446 (3): 173–80. doi:10.1016/s0167-4781(99)00079-2. PMID 10524192.
• Yan Z, Jetten AM (Nov 2000). "Characterization of the repressor function of the nuclear orphan receptor retinoid receptor-related testis-associated receptor/germ cell nuclear factor". The Journal of Biological Chemistry. 275 (45): 35077–85. doi:10.1074/jbc.M005566200. PMID 10940306.
• Süsens U, Borgmeyer U (2001). "Genomic structure of the gene for mouse germ-cell nuclear factor (GCNF). II. Comparison with the genomic structure of the human GCNF gene". Genome Biology. 2 (5): RESEARCH0017. doi:10.1186/gb-2001-2-5-research0017. PMC 32189. PMID 11387038.
• Mehta DV, Kim YS, Dixon D, Jetten AM (Apr 2002). "Characterization of the expression of the retinoid-related, testis-associated receptor (RTR) in trophoblasts". Placenta. 23 (4): 281–7. doi:10.1053/plac.2001.0779. PMID 11969338.
• Yan Z, Kim YS, Jetten AM (Aug 2002). "RAP80, a novel nuclear protein that interacts with the retinoid-related testis-associated receptor". The Journal of Biological Chemistry. 277 (35): 32379–88. doi:10.1074/jbc.M203475200. PMID 12080054.
• Lan ZJ, Chung AC, Xu X, DeMayo FJ, Cooney AJ (Dec 2002). "The embryonic function of germ cell nuclear factor is dependent on the DNA binding domain". The Journal of Biological Chemistry. 277 (52): 50660–7. doi:10.1074/jbc.M209586200. PMID 12381721.
• Yang G, Zhang YL, Buchold GM, Jetten AM, O'Brien DA (May 2003). "Analysis of germ cell nuclear factor transcripts and protein expression during spermatogenesis". Biology of Reproduction. 68 (5): 1620–30. doi:10.1095/biolreprod.102.012013. PMID 12606326.
• Rajkovic M, Middendorff R, Wetzel MG, Frkovic D, Damerow S, Seitz HJ, Weitzel JM (Dec 2004). "Germ cell nuclear factor relieves cAMP-response element modulator tau-mediated activation of the testis-specific promoter of human mitochondrial glycerol-3-phosphate dehydrogenase". The Journal of Biological Chemistry. 279 (50): 52493–9. doi:10.1074/jbc.M404467200. PMID 15456763.

External links

• NR6A1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)