RFX5

Regulatory factor X, 5 (influences HLA class II expression)
Identifiers
Symbols	RFX5;
External IDs	OMIM: 601863 MGI: 1858421 HomoloGene: 388 GeneCards: RFX5 Gene
Gene Ontology Molecular function • DNA binding • sequence-specific DNA binding transcription factor activity • protein binding Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-dependent • regulation of transcription, DNA-dependent Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5993	53970
Ensembl	ENSG00000143390	ENSMUSG00000005774
UniProt	P48382	n/a
RefSeq (mRNA)	NM_000449.3	NM_017395.2
RefSeq (protein)	NP_000440.1	NP_059091.2
Location (UCSC)	Chr 1: 151.31 – 151.32 Mb	Chr 3: 94.76 – 94.77 Mb
PubMed search	[1]	[2]

DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 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.

Interactions

RFX5 has been shown to interact with CIITA.

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. doi:10.1101/gad.9.9.1021. PMID 7744245. 
• 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. doi:10.1016/0378-1119(94)90802-8. 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. PMC 1169704. PMID 9118943. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1169704. 
• 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. doi:10.1073/pnas.94.12.6330. PMC 21049. PMID 9177217. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=21049. 
• 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. 
• 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. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• 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. 
• 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. doi:10.1016/S1074-7613(00)80016-3. PMID 10072068. 
• 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. doi:10.1007/s002510050501. PMID 10079298. 
• 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. doi:10.1128/MCB.20.10.3364-3376.2000. PMC 85629. PMID 10779326. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=85629. 
• 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. doi:10.1128/MCB.20.12.4455-4461.2000. PMC 85813. PMID 10825209. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=85813. 
• 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. 
• 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. 
• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. 
• 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. 
• 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. PMID 15253423. 

External links

• MeSH RFX5+protein,+human
• FactorBook RFX5

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