RFX5

Regulatory factor X, 5 (influences HLA class II expression)
Identifiers
Symbols	RFX5 ;
External IDs	Template:OMIM5 Template:MGI HomoloGene: 388
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE RFX5 202963 at tn.png
File:PBB GE RFX5 202964 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Regulatory factor X, 5 (influences HLA class II expression), also known as RFX5, is a human gene.

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.

Further reading

• Reith W, Mach B (2001). "The bare lymphocyte syndrome and the regulation of MHC expression". Annu. Rev. Immunol. 19: 331–73. doi:10.1146/annurev.immunol.19.1.331. PMID 11244040.
• 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. PMID 7744245.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
• Durand B, Sperisen P, Emery P; et al. (1997). "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency". EMBO J. 16 (5): 1045–55. doi:10.1093/emboj/16.5.1045. PMID 9118943.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scholl T, Mahanta SK, Strominger JL (1997). "Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5". Proc. Natl. Acad. Sci. U.S.A. 94 (12): 6330–4. PMID 9177217.CS1 maint: Multiple names: authors list (link)
• 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. PMID 9190936.CS1 maint: Multiple names: authors list (link)
• 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". Gene. 200 (1–2): 149–56. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Villard J, Reith W, Barras E; et al. (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. Mutat. 10 (6): 430–5. doi:10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H. PMID 9401005.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9806546.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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". Immunity. 10 (2): 153–62. PMID 10072068.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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". Immunogenetics. 49 (4): 338–45. PMID 10079298.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Villard J, Peretti M, Masternak K; et al. (2000). "A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y". Mol. Cell. Biol. 20 (10): 3364–76. PMID 10779326.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nekrep N, Jabrane-Ferrat N, Peterlin BM (2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Mol. Cell. Biol. 20 (12): 4455–61. PMID 10825209.CS1 maint: Multiple names: authors list (link)
• 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. PMID 11986307.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12368908.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12968017.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15210800.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15253423.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• RFX5+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.