RFX5

Regulatory factor X, 5 (influences HLA class II expression), also known as RFX5, is a human gene.cite web | title = Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Reith W, Mach B |title=The bare lymphocyte syndrome and the regulation of MHC expression. |journal=Annu. Rev. Immunol. |volume=19 |issue= |pages= 331–73 |year= 2001 |pmid= 11244040 |doi= 10.1146/annurev.immunol.19.1.331
*cite journal | author=Steimle V, Durand B, Barras E, "et al." |title=A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). |journal=Genes Dev. |volume=9 |issue= 9 |pages= 1021–32 |year= 1995 |pmid= 7744245 |doi=
*cite journal | author=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 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Durand B, Sperisen P, Emery P, "et al." |title=RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. |journal=EMBO J. |volume=16 |issue= 5 |pages= 1045–55 |year= 1997 |pmid= 9118943 |doi= 10.1093/emboj/16.5.1045
*cite journal | author=Scholl T, Mahanta SK, Strominger JL |title=Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 12 |pages= 6330–4 |year= 1997 |pmid= 9177217 |doi=
*cite journal | author=Moreno CS, Rogers EM, Brown JA, Boss JM |title=Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. |journal=J. Immunol. |volume=158 |issue= 12 |pages= 5841–8 |year= 1997 |pmid= 9190936 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |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 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Villard J, Reith W, Barras E, "et al." |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=Hum. Mutat. |volume=10 |issue= 6 |pages= 430–5 |year= 1998 |pmid= 9401005 |doi= 10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H |doilabel=10.1002/(SICI)1098-1004(1997)10:6430::AID-HUMU33.0.CO;2-H
*cite journal | author=Masternak K, Barras E, Zufferey M, "et al." |title=A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. |journal=Nat. Genet. |volume=20 |issue= 3 |pages= 273–7 |year= 1998 |pmid= 9806546 |doi= 10.1038/3081
*cite journal | author=Nagarajan UM, Louis-Plence P, DeSandro A, "et al." |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 |year= 1999 |pmid= 10072068 |doi=
*cite journal | author=Peijnenburg A, Van Eggermond MC, Van den Berg R, "et al." |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 |year= 1999 |pmid= 10079298 |doi=
*cite journal | author=Villard J, Peretti M, Masternak K, "et al." |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=Mol. Cell. Biol. |volume=20 |issue= 10 |pages= 3364–76 |year= 2000 |pmid= 10779326 |doi=
*cite journal | author=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=Mol. Cell. Biol. |volume=20 |issue= 12 |pages= 4455–61 |year= 2000 |pmid= 10825209 |doi=
*cite journal | author=Sengupta PK, Fargo J, Smith BD |title=The RFX family interacts at the collagen (COL1A2) start site and represses transcription. |journal=J. Biol. Chem. |volume=277 |issue= 28 |pages= 24926–37 |year= 2002 |pmid= 11986307 |doi= 10.1074/jbc.M111712200
*cite journal | author=Nekrep N, Jabrane-Ferrat N, Wolf HM, "et al." |title=Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. |journal=Nat. Immunol. |volume=3 |issue= 11 |pages= 1075–81 |year= 2002 |pmid= 12368908 |doi= 10.1038/ni840
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Xu Y, Wang L, Buttice G, "et al." |title=Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex. |journal=J. Biol. Chem. |volume=278 |issue= 49 |pages= 49134–44 |year= 2004 |pmid= 12968017 |doi= 10.1074/jbc.M309003200
*cite journal | author=Nagarajan UM, Long AB, Harreman MT, "et al." |title=A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression. |journal=J. Immunol. |volume=173 |issue= 1 |pages= 410–9 |year= 2004 |pmid= 15210800 |doi=
*cite journal | author=Hjerrild M, Stensballe A, Rasmussen TE, "et al." |title=Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry. |journal=J. Proteome Res. |volume=3 |issue= 3 |pages= 426–33 |year= 2004 |pmid= 15253423 |doi=

External links

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