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RFX5
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<h2 id="function">Function</h2> <p>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 Xbox 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.<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a> </p> <h2 id="interactions">Interactions</h2> <p>RFX5 has been shown to <a href="/facts/Protein-protein_interaction/etvm9Wmg">interact</a> with <a href="/facts/CIITA/Ecbb2B91">CIITA</a>.<a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a><a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p> <h2 id="further-reading">Further reading</h2> <ul><li>Reith W, Mach B (2001). "The bare lymphocyte syndrome and the regulation of MHC expression". <i>Annual Review of Immunology</i>. 19: 331–73. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1146%2Fannurev.immunol.19.1.331">10.1146/annurev.immunol.19.1.331</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11244040">11244040</a>.</li> <li>Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B, Reith W (May 1995). <a href="https://doi.org/10.1101%2Fgad.9.9.1021">"A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)"</a>. <i>Genes & Development</i>. 9 (9): 1021–32. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgad.9.9.1021">10.1101/gad.9.9.1021</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7744245">7744245</a>.</li> <li>Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". <i>Gene</i>. 138 (1–2): 171–4. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2F0378-1119%2894%2990802-8">10.1016/0378-1119(94)90802-8</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8125298">8125298</a>.</li> <li>Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W (Mar 1997). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1169704">"RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency"</a>. <i>The EMBO Journal</i>. 16 (5): 1045–55. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Femboj%2F16.5.1045">10.1093/emboj/16.5.1045</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1169704">1169704</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9118943">9118943</a>.</li> <li>Scholl T, Mahanta SK, Strominger JL (Jun 1997). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC21049">"Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5"</a>. <i>Proceedings of the National Academy of Sciences of the United States of America</i>. 94 (12): 6330–4. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1997PNAS...94.6330S">1997PNAS...94.6330S</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.94.12.6330">10.1073/pnas.94.12.6330</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC21049">21049</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9177217">9177217</a>.</li> <li>Moreno CS, Rogers EM, Brown JA, Boss JM (Jun 1997). <a href="https://doi.org/10.4049%2Fjimmunol.158.12.5841">"Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex"</a>. <i>Journal of Immunology</i>. 158 (12): 5841–8. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.4049%2Fjimmunol.158.12.5841">10.4049/jimmunol.158.12.5841</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9190936">9190936</a>.</li> <li>Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". <i>Gene</i>. 200 (1–2): 149–56. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0378-1119%2897%2900411-3">10.1016/S0378-1119(97)00411-3</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9373149">9373149</a>.</li> <li>Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W (Nov 1998). "A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients". <i>Nature Genetics</i>. 20 (3): 273–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F3081">10.1038/3081</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9806546">9806546</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:23780606">23780606</a>.</li> <li>Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM (Feb 1999). <a href="https://doi.org/10.1016%2FS1074-7613%2800%2980016-3">"RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency"</a>. <i>Immunity</i>. 10 (2): 153–62. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS1074-7613%2800%2980016-3">10.1016/S1074-7613(00)80016-3</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10072068">10072068</a>.</li> <li>Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ (Apr 1999). "Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene". <i>Immunogenetics</i>. 49 (4): 338–45. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2Fs002510050501">10.1007/s002510050501</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10079298">10079298</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:23271370">23271370</a>.</li> <li>Villard J, Peretti M, Masternak K, Barras E, Caretti G, Mantovani R, Reith W (May 2000). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC85629">"A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y"</a>. <i>Molecular and Cellular Biology</i>. 20 (10): 3364–76. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1128%2FMCB.20.10.3364-3376.2000">10.1128/MCB.20.10.3364-3376.2000</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC85629">85629</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10779326">10779326</a>.</li> <li>Nekrep N, Jabrane-Ferrat N, Peterlin BM (Jun 2000). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC85813">"Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex"</a>. <i>Molecular and Cellular Biology</i>. 20 (12): 4455–61. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1128%2FMCB.20.12.4455-4461.2000">10.1128/MCB.20.12.4455-4461.2000</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC85813">85813</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10825209">10825209</a>.</li> <li>Sengupta PK, Fargo J, Smith BD (Jul 2002). <a href="https://doi.org/10.1074%2Fjbc.M111712200">"The RFX family interacts at the collagen (COL1A2) start site and represses transcription"</a>. <i>The Journal of Biological Chemistry</i>. 277 (28): 24926–37. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M111712200">10.1074/jbc.M111712200</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11986307">11986307</a>.</li> <li>Nekrep N, Jabrane-Ferrat N, Wolf HM, Eibl MM, Geyer M, Peterlin BM (Nov 2002). "Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome". <i>Nature Immunology</i>. 3 (11): 1075–81. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fni840">10.1038/ni840</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12368908">12368908</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:7241082">7241082</a>.</li> <li>Xu Y, Wang L, Buttice G, Sengupta PK, Smith BD (Dec 2003). <a href="https://doi.org/10.1074%2Fjbc.M309003200">"Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex"</a>. <i>The Journal of Biological Chemistry</i>. 278 (49): 49134–44. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M309003200">10.1074/jbc.M309003200</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12968017">12968017</a>.</li> <li>Nagarajan UM, Long AB, Harreman MT, Corbett AH, Boss JM (Jul 2004). <a href="https://doi.org/10.4049%2Fjimmunol.173.1.410">"A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression"</a>. <i>Journal of Immunology</i>. 173 (1): 410–9. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.4049%2Fjimmunol.173.1.410">10.4049/jimmunol.173.1.410</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15210800">15210800</a>.</li> <li>Hjerrild M, Stensballe A, Rasmussen TE, Kofoed CB, Blom N, Sicheritz-Ponten T, Larsen MR, Brunak S, Jensen ON, Gammeltoft S (2004). "Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry". <i>Journal of Proteome Research</i>. 3 (3): 426–33. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1021%2Fpr0341033">10.1021/pr0341033</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15253423">15253423</a>.</li></ul> <h2 id="external-links">External links</h2> <ul><li><a href="https://meshb.nlm.nih.gov/record/ui?name=RFX5+protein%2C+human">RFX5+protein,+human</a> at the U.S. National Library of Medicine <a href="/facts/Medical_Subject_Headings/C57g2JuF">Medical Subject Headings</a> (MeSH)</li> <li><a href="/facts/ENCODE/X7hhKpsg">FactorBook</a> <a href="http://www.factorbook.org/mediawiki/index.php/RFX5">RFX5</a></li></ul> <p><i>This article incorporates text from the <a href="/facts/United_States_National_Library_of_Medicine/Hzty0MCX">United States National Library of Medicine</a>, which is in the <a href="/facts/Public_domain/YWKMDKw4">public domain</a>.</i> </p> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>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". Human Mutation. 10 (6): 430–5. doi:10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H. PMID 9401005. S2CID 41660134. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>"Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Hake SB, Masternak K, Kammerbauer C, Janzen C, Reith W, Steimle V (Oct 2000). "CIITA leucine-rich repeats control nuclear localization, in vivo recruitment to the major histocompatibility complex (MHC) class II enhanceosome, and MHC class II gene transactivation". Molecular and Cellular Biology. 20 (20): 7716–25. doi:10.1128/MCB.20.20.7716-7725.2000. PMC 86349. PMID 11003667. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC86349" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC86349</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Scholl T, Mahanta SK, Strominger JL (Jun 1997). "Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5". Proceedings of the National Academy of Sciences of the United States of America. 94 (12): 6330–4. Bibcode:1997PNAS...94.6330S. doi:10.1073/pnas.94.12.6330. PMC 21049. PMID 9177217. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC21049" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC21049</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> </ol>