Biology:RFX5

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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

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.

Interactions

RFX5 has been shown to interact with CIITA.

Further reading

• "The bare lymphocyte syndrome and the regulation of MHC expression". Annual Review of Immunology 19: 331–73. 2001. doi:10.1146/annurev.immunol.19.1.331. PMID 11244040. 
• "A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)". Genes & Development 9 (9): 1021–32. May 1995. doi:10.1101/gad.9.9.1021. PMID 7744245. 
• "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency". The EMBO Journal 16 (5): 1045–55. Mar 1997. doi:10.1093/emboj/16.5.1045. PMID 9118943. 
• "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. Jun 1997. doi:10.1073/pnas.94.12.6330. PMID 9177217. Bibcode: 1997PNAS...94.6330S. 
• "Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex". Journal of Immunology 158 (12): 5841–8. Jun 1997. doi:10.4049/jimmunol.158.12.5841. PMID 9190936. 
• "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• "A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients". Nature Genetics 20 (3): 273–7. Nov 1998. doi:10.1038/3081. PMID 9806546. 
• "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. Feb 1999. doi:10.1016/S1074-7613(00)80016-3. PMID 10072068. 
• "Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene". Immunogenetics 49 (4): 338–45. Apr 1999. doi:10.1007/s002510050501. PMID 10079298. 
• "A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y". Molecular and Cellular Biology 20 (10): 3364–76. May 2000. doi:10.1128/MCB.20.10.3364-3376.2000. PMID 10779326. 
• "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Molecular and Cellular Biology 20 (12): 4455–61. Jun 2000. doi:10.1128/MCB.20.12.4455-4461.2000. PMID 10825209. 
• "The RFX family interacts at the collagen (COL1A2) start site and represses transcription". The Journal of Biological Chemistry 277 (28): 24926–37. Jul 2002. doi:10.1074/jbc.M111712200. PMID 11986307. 
• "Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome". Nature Immunology 3 (11): 1075–81. Nov 2002. doi:10.1038/ni840. PMID 12368908. 
• "Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex". The Journal of Biological Chemistry 278 (49): 49134–44. Dec 2003. doi:10.1074/jbc.M309003200. PMID 12968017. 
• "A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression". Journal of Immunology 173 (1): 410–9. Jul 2004. doi:10.4049/jimmunol.173.1.410. PMID 15210800. 
• "Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry". Journal of Proteome Research 3 (3): 426–33. 2004. doi:10.1021/pr0341033. PMID 15253423. 

External links

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

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