DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5gene.
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined.
^Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SE, Van den Elsen PJ, Mach B (January 1998). "Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency". Hum Mutat10 (6): 430–5. doi:10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H. PMID9401005.
Steimle V; Durand B; Barras E et al. (1995). "A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)". Genes Dev.9 (9): 1021–32. doi:10.1101/gad.9.9.1021. PMID7744245.
Moreno CS, Rogers EM, Brown JA, Boss JM (1997). "Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex". J. Immunol.158 (12): 5841–8. PMID9190936.
Suzuki Y; Yoshitomo-Nakagawa K; Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Masternak K; Barras E; Zufferey M et al. (1998). "A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients". Nat. Genet.20 (3): 273–7. doi:10.1038/3081. PMID9806546.
Nagarajan UM; Louis-Plence P; DeSandro A et al. (1999). "RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency". Immunity10 (2): 153–62. doi:10.1016/S1074-7613(00)80016-3. PMID10072068.
Peijnenburg A; Van Eggermond MC; Van den Berg R et al. (1999). "Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene". Immunogenetics49 (4): 338–45. doi:10.1007/s002510050501. PMID10079298.
Sengupta PK, Fargo J, Smith BD (2002). "The RFX family interacts at the collagen (COL1A2) start site and represses transcription". J. Biol. Chem.277 (28): 24926–37. doi:10.1074/jbc.M111712200. PMID11986307.
Nekrep N; Jabrane-Ferrat N; Wolf HM et al. (2002). "Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome". Nat. Immunol.3 (11): 1075–81. doi:10.1038/ni840. PMID12368908.
Xu Y; Wang L; Buttice G et al. (2004). "Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex". J. Biol. Chem.278 (49): 49134–44. doi:10.1074/jbc.M309003200. PMID12968017.
Nagarajan UM; Long AB; Harreman MT et al. (2004). "A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression". J. Immunol.173 (1): 410–9. doi:10.4049/jimmunol.173.1.410. PMID15210800.
Hjerrild M; Stensballe A; Rasmussen TE et al. (2004). "Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry". J. Proteome Res.3 (3): 426–33. doi:10.1021/pr0341033. PMID15253423.