HGNC Approved Gene Symbol: RFX1
Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:13,961,530-14,006,816 (from NCBI)
The RFX1 gene product is a transactivator of the human hepatitis B viral enhancer I. Reith et al. (1994) commented that The RFX family members, particularly RFX1 and RFX3 (601337), constitute the nuclear complexes referred to previously as enhancer factor C (EF-C), EP, and methylation-dependent DNA-binding protein (MDBP), or rpL30-alpha (summary by Reith et al., 1994).
Emery et al. (1996) reviewed RFX1, RFX5 (601863), and other members of the RFX family of DNA binding proteins.
Reith et al. (1994) identified and cloned 3 members of the RFX gene family from both human and mouse using lambda gt11 cDNA libraries. Homology between the 3 RFX proteins is restricted largely to 5 conserved regions, including the 2 domains required for DNA binding and dimerization. Reith et al. (1994) found that RFX1, RFX2 (142765), and RFX3 have similar DNA-binding specificities. The RFX monomers can heterodimerize both in vivo and in vitro, but all 3 are capable of binding DNA as monomers. They showed that the RFX1 transcript is expressed in many mouse tissues.
Pugliati et al. (1989) used an RFX cDNA for in situ hybridization to show that the gene maps to 19p13. (Pugliatti's surname was misspelled in the 1989 abstract.) By in situ hybridization using tritium-labeled RFX1 cDNA, Pugliatti et al. (1992) identified 2 distinct targets on the short arm of chromosome 19, 19p13.1 and 19p13.3-p13.2. By the use of in situ hybridization with a biotinylated genomic cosmid clone they localized RFX1 to 19p13.1. RFX1 is close to another DNA-binding factor, LYL1 (151440). Doyle et al. (1996) physically mapped RFX1 to cosmid contigs for chromosome 19. The gene was localized between MEL (165040) and LYL1. Doyle et al. (1996) used interspecific backcross mapping to place Rfx1 in the central region of mouse chromosome 8 near the homolog of JUNB (165161).
Using functional genomic analysis, Elkon et al. (2015) identified RFX transcription factors as essential and evolutionarily conserved regulators of mouse hair cell-specific transcriptomes. Several RFXs, including Rfx1 and Rfx3, were expressed in developing mouse hair cells.
Elkon et al. (2015) found that conditional knockout mice lacking Rfx1 or Rfx3 in inner ear hair cells had normal hearing, but that mice lacking both Rfx1 and Rfx3 had rapidly progressive hearing loss. Loss of both Rfx1 and Rfx3 did not affect early development and maturation of hair cells, but it led to programmed cell death in outer hair cells. The authors concluded that RFX1 and RFX3 have critical roles in regulating survival of postnatal terminally differentiating outer hair cells.
Doyle, J., Hoffman, S., Ucla, C., Reith, W., Mach, B., Stubbs, L. Locations of human and mouse genes encoding the RFX1 and RFX2 transcription factor proteins. Genomics 35: 227-230, 1996. [PubMed: 8661125] [Full Text: https://doi.org/10.1006/geno.1996.0343]
Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C. C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C. D., and 12 others. RFX transcription factors are essential for hearing in mice. Nature Commun. 6: 8549, 2015. Note: Electronic Article. [PubMed: 26469318] [Full Text: https://doi.org/10.1038/ncomms9549]
Emery, P., Durand, B., Mach, B., Reith, W. RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom. Nucleic Acids Res. 24: 803-807, 1996. [PubMed: 8600444] [Full Text: https://doi.org/10.1093/nar/24.5.803]
Pugliati, L., Reith, W., Fey, S., Mach, B. Mapping the RF-X gene, encoding a DNA-binding protein controlling HLA class II gene expression, to 19p13.(Abstract) Cytogenet. Cell Genet. 51: 1061 only, 1989.
Pugliatti, L., Derre, J., Berger, R., Ucla, C., Reith, W., Mach, B. The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19. Genomics 13: 1307-1310, 1992. [PubMed: 1505960] [Full Text: https://doi.org/10.1016/0888-7543(92)90052-t]
Reith, W., Ucla, C., Barras, E., Gaud, A., Durand, B., Herrero-Sanchez, C., Kobr, M., Mach, B. RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. Molec. Cell. Biol. 14: 1230-1244, 1994. [PubMed: 8289803] [Full Text: https://doi.org/10.1128/mcb.14.2.1230-1244.1994]