View source for RFX5

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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''DNA-binding protein RFX5''' is a [[protein]] that in humans is encoded by the ''RFX5'' [[gene]].<ref name="pmid9401005">{{cite journal | vauthors = Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SE, Van den Elsen PJ, Mach B | title = Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency | journal = Human Mutation | volume = 10 | issue = 6 | pages = 430–5 | date = January 1998 | pmid = 9401005 | doi = 10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H | s2cid = 41660134 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993}}</ref>

== Function ==

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.<ref name="entrez" />

== Interactions ==

RFX5 has been shown to [[Protein-protein interaction|interact]] with [[CIITA]].<ref name=pmid11003667>{{cite journal | vauthors = Hake SB, Masternak K, Kammerbauer C, Janzen C, Reith W, Steimle V | title = 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 | journal = Molecular and Cellular Biology | volume = 20 | issue = 20 | pages = 7716–25 | date = Oct 2000 | pmid = 11003667 | pmc = 86349 | doi = 10.1128/MCB.20.20.7716-7725.2000 }}</ref><ref name=pmid9177217>{{cite journal | vauthors = Scholl T, Mahanta SK, Strominger JL | title = Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 12 | pages = 6330–4 | date = Jun 1997 | pmid = 9177217 | pmc = 21049 | doi = 10.1073/pnas.94.12.6330 | bibcode = 1997PNAS...94.6330S | doi-access = free }}</ref>

== References ==
{{reflist}}

== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Reith W, Mach B | title = The bare lymphocyte syndrome and the regulation of MHC expression | journal = Annual Review of Immunology | volume = 19 | pages = 331–73 | year = 2001 | pmid = 11244040 | doi = 10.1146/annurev.immunol.19.1.331 }}
* {{cite journal | vauthors = Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B, Reith W | title = A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome) | journal = Genes & Development | volume = 9 | issue = 9 | pages = 1021–32 | date = May 1995 | pmid = 7744245 | doi = 10.1101/gad.9.9.1021 | doi-access = free }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
* {{cite journal | vauthors = Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W | title = RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency | journal = The EMBO Journal | volume = 16 | issue = 5 | pages = 1045–55 | date = Mar 1997 | pmid = 9118943 | pmc = 1169704 | doi = 10.1093/emboj/16.5.1045 }}
* {{cite journal | vauthors = Scholl T, Mahanta SK, Strominger JL | title = Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 12 | pages = 6330–4 | date = Jun 1997 | pmid = 9177217 | pmc = 21049 | doi = 10.1073/pnas.94.12.6330 | bibcode = 1997PNAS...94.6330S | doi-access = free }}
* {{cite journal | vauthors = Moreno CS, Rogers EM, Brown JA, Boss JM | title = Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex | journal = Journal of Immunology | volume = 158 | issue = 12 | pages = 5841–8 | date = Jun 1997 | doi = 10.4049/jimmunol.158.12.5841 | pmid = 9190936 | doi-access = free }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
* {{cite journal | vauthors = Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W | title = A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients | journal = Nature Genetics | volume = 20 | issue = 3 | pages = 273–7 | date = Nov 1998 | pmid = 9806546 | doi = 10.1038/3081 | s2cid = 23780606 }}
* {{cite journal | vauthors = Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM | title = RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency | journal = Immunity | volume = 10 | issue = 2 | pages = 153–62 | date = Feb 1999 | pmid = 10072068 | doi = 10.1016/S1074-7613(00)80016-3 | doi-access = free }}
* {{cite journal | vauthors = Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ | title = Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene | journal = Immunogenetics | volume = 49 | issue = 4 | pages = 338–45 | date = Apr 1999 | pmid = 10079298 | doi = 10.1007/s002510050501 | s2cid = 23271370 }}
* {{cite journal | vauthors = Villard J, Peretti M, Masternak K, Barras E, Caretti G, Mantovani R, Reith W | title = A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y | journal = Molecular and Cellular Biology | volume = 20 | issue = 10 | pages = 3364–76 | date = May 2000 | pmid = 10779326 | pmc = 85629 | doi = 10.1128/MCB.20.10.3364-3376.2000 }}
* {{cite journal | vauthors = Nekrep N, Jabrane-Ferrat N, Peterlin BM | title = Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex | journal = Molecular and Cellular Biology | volume = 20 | issue = 12 | pages = 4455–61 | date = Jun 2000 | pmid = 10825209 | pmc = 85813 | doi = 10.1128/MCB.20.12.4455-4461.2000 }}
* {{cite journal | vauthors = Sengupta PK, Fargo J, Smith BD | title = The RFX family interacts at the collagen (COL1A2) start site and represses transcription | journal = The Journal of Biological Chemistry | volume = 277 | issue = 28 | pages = 24926–37 | date = Jul 2002 | pmid = 11986307 | doi = 10.1074/jbc.M111712200 | doi-access = free }}
* {{cite journal | vauthors = Nekrep N, Jabrane-Ferrat N, Wolf HM, Eibl MM, Geyer M, Peterlin BM | title = Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome | journal = Nature Immunology | volume = 3 | issue = 11 | pages = 1075–81 | date = Nov 2002 | pmid = 12368908 | doi = 10.1038/ni840 | s2cid = 7241082 }}
* {{cite journal | vauthors = Xu Y, Wang L, Buttice G, Sengupta PK, Smith BD | title = Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex | journal = The Journal of Biological Chemistry | volume = 278 | issue = 49 | pages = 49134–44 | date = Dec 2003 | pmid = 12968017 | doi = 10.1074/jbc.M309003200 | doi-access =free  }}
* {{cite journal | vauthors = Nagarajan UM, Long AB, Harreman MT, Corbett AH, Boss JM | title = A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression | journal = Journal of Immunology | volume = 173 | issue = 1 | pages = 410–9 | date = Jul 2004 | pmid = 15210800 | doi = 10.4049/jimmunol.173.1.410 | doi-access = free }}
* {{cite journal | vauthors = Hjerrild M, Stensballe A, Rasmussen TE, Kofoed CB, Blom N, Sicheritz-Ponten T, Larsen MR, Brunak S, Jensen ON, Gammeltoft S | title = Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry | journal = Journal of Proteome Research | volume = 3 | issue = 3 | pages = 426–33 | year = 2004 | pmid = 15253423 | doi = 10.1021/pr0341033 }}
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== External links ==
* {{MeshName|RFX5+protein,+human}}
* {{FactorBook|RFX5}}

{{NLM content}}
{{Transcription factors|g1}}

[[Category:Transcription factors]]


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