RFXAP explained

Regulatory factor X-associated protein is a protein that in humans is encoded by the RFXAP gene.^{[1] [2]}

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene.^[2]

Interactions

RFXAP has been shown to interact with RFXANK.^{[3] [4]}

Further reading

• Mach B, Steimle V, Martinez-Soria E, Reith W . Regulation of MHC class II genes: lessons from a disease. . Annu. Rev. Immunol. . 14 . 301–31 . 1996 . 8717517 . 10.1146/annurev.immunol.14.1.301 .
• Reith W, Mach B . The bare lymphocyte syndrome and the regulation of MHC expression. . Annu. Rev. Immunol. . 19 . 331–73 . 2001 . 11244040 . 10.1146/annurev.immunol.19.1.331 .
• Reith W, Siegrist CA, Durand B, etal . Function of major histocompatibility complex class II promoters requires cooperative binding between factors RFX and NF-Y. . Proc. Natl. Acad. Sci. U.S.A. . 91 . 2 . 554–8 . 1994 . 8290561 . 10.1073/pnas.91.2.554 . 42987 . 1994PNAS...91..554R . free .
• Villard J, Lisowska-Grospierre B, van den Elsen P, etal . Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. . N. Engl. J. Med. . 337 . 11 . 748–53 . 1997 . 9287230 . 10.1056/NEJM199709113371104 . free .
• Gobin SJ, Peijnenburg A, van Eggermond M, etal . The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes. . Immunity . 9 . 4 . 531–41 . 1998 . 9806639 . 10.1016/S1074-7613(00)80636-6 . free .
• Nagarajan UM, Louis-Plence P, DeSandro A, etal . 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 . 1999 . 10072068 . 10.1016/S1074-7613(00)80016-3 . free .
• Nekrep N, Jabrane-Ferrat N, Peterlin BM . 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 . 2000 . 10825209 . 10.1128/MCB.20.12.4455-4461.2000 . 85813 .
• Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM . Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. . Mol. Cell. Biol. . 21 . 16 . 5566–76 . 2001 . 11463838 . 10.1128/MCB.21.16.5566-5576.2001 . 87278 .
• Kutsenko AS, Gizatullin RZ, Al-Amin AN, etal . NotI flanking sequences: a tool for gene discovery and verification of the human genome. . Nucleic Acids Res. . 30 . 14 . 3163–70 . 2002 . 12136098 . 10.1093/nar/gkf428 . 135748 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Nagarajan UM, Long AB, Harreman MT, etal . 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 . 2004 . 15210800 . 10.4049/jimmunol.173.1.410. free .
• Mudhasani R, Fontes JD . Multiple interactions between BRG1 and MHC class II promoter binding proteins. . Mol. Immunol. . 42 . 6 . 673–82 . 2005 . 15781111 . 10.1016/j.molimm.2004.09.021 .
• Long AB, Ferguson AM, Majumder P, etal . Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression. . Mol. Immunol. . 43 . 5 . 395–409 . 2006 . 16337482 . 10.1016/j.molimm.2005.03.008 .

Notes and References

1. Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W . RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency . EMBO J . 16 . 5 . 1045–55 . April 1997 . 9118943 . 1169704 . 10.1093/emboj/16.5.1045 .
2. Web site: Entrez Gene: RFXAP regulatory factor X-associated protein.
3. Nekrep . N . Geyer M . Jabrane-Ferrat N . Peterlin B M . August 2001 . Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome . Mol. Cell. Biol. . 21 . 16 . 5566–76 . United States. 0270-7306. 11463838 . 10.1128/MCB.21.16.5566-5576.2001 . 87278 .
4. Nekrep . N . Jabrane-Ferrat N . Peterlin B M . June 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 . UNITED STATES. 0270-7306. 10825209 . 10.1128/MCB.20.12.4455-4461.2000 . 85813 .