RFX5

Regulatory factor X, 5 (influences HLA class II expression)
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2KW3​, 3V30​
Identifiers
Symbol	RFX5
External IDs	OMIM: 601863 MGI: 1858421 HomoloGene: 388 GeneCards: RFX5 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • DNA binding • transcription factor activity, sequence-specific DNA binding • protein binding Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5993	53970
Ensembl	ENSG00000143390	ENSMUSG00000005774
UniProt	P48382	Q9JL61
RefSeq (mRNA)	NM_000449	NM_017395
RefSeq (protein)	NP_000440	NP_059091
Location (UCSC)	Chr 1: 151.34 – 151.35 Mb	Chr 3: 94.95 – 94.96 Mb
PubMed search

DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.^[1][2]

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 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.^[2]

Interactions

RFX5 has been shown to interact with CIITA.^[3][4]

References

1. Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SE, Van den Elsen PJ, Mach B (January 1998). "Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency". Human Mutation 10 (6): 430–5. doi:10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H. PMID 9401005.
2. "Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)".
3. Hake SB, Masternak K, Kammerbauer C, Janzen C, Reith W, Steimle V (Oct 2000). "CIITA leucine-rich repeats control nuclear localization, in vivo recruitment to the major histocompatibility complex (MHC) class II enhanceosome, and MHC class II gene transactivation". Molecular and Cellular Biology 20 (20): 7716–25. doi:10.1128/MCB.20.20.7716-7725.2000. PMC 86349. PMID 11003667.
4. Scholl T, Mahanta SK, Strominger JL (Jun 1997). "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. doi:10.1073/pnas.94.12.6330. PMC 21049. PMID 9177217.

Further reading

• Reith W, Mach B (2001). "The bare lymphocyte syndrome and the regulation of MHC expression". Annual Review of Immunology 19: 331–73. doi:10.1146/annurev.immunol.19.1.331. PMID 11244040.
• Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B, Reith W (May 1995). "A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)". Genes & Development 9 (9): 1021–32. doi:10.1101/gad.9.9.1021. PMID 7744245.
• Maruyama K, Sugano S (Jan 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, Barras E, Zufferey M, Mach B, Reith W (Mar 1997). "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency". The EMBO Journal 16 (5): 1045–55. doi:10.1093/emboj/16.5.1045. PMC 1169704. PMID 9118943.
• Scholl T, Mahanta SK, Strominger JL (Jun 1997). "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. doi:10.1073/pnas.94.12.6330. PMC 21049. PMID 9177217.
• Moreno CS, Rogers EM, Brown JA, Boss JM (Jun 1997). "Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex". Journal of Immunology 158 (12): 5841–8. PMID 9190936.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 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, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W (Nov 1998). "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. doi:10.1038/3081. PMID 9806546.
• Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM (Feb 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, Sanal O, Vossen JM, Van den Elsen PJ (Apr 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, Barras E, Caretti G, Mantovani R, Reith W (May 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". Molecular and Cellular Biology 20 (10): 3364–76. doi:10.1128/MCB.20.10.3364-3376.2000. PMC 85629. PMID 10779326.
• Nekrep N, Jabrane-Ferrat N, Peterlin BM (Jun 2000). "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. doi:10.1128/MCB.20.12.4455-4461.2000. PMC 85813. PMID 10825209.
• Sengupta PK, Fargo J, Smith BD (Jul 2002). "The RFX family interacts at the collagen (COL1A2) start site and represses transcription". The Journal of Biological Chemistry 277 (28): 24926–37. doi:10.1074/jbc.M111712200. PMID 11986307.
• Nekrep N, Jabrane-Ferrat N, Wolf HM, Eibl MM, Geyer M, Peterlin BM (Nov 2002). "Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome". Nature Immunology 3 (11): 1075–81. doi:10.1038/ni840. PMID 12368908.
• Xu Y, Wang L, Buttice G, Sengupta PK, Smith BD (Dec 2003). "Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex". The Journal of Biological Chemistry 278 (49): 49134–44. doi:10.1074/jbc.M309003200. PMID 12968017.
• Nagarajan UM, Long AB, Harreman MT, Corbett AH, Boss JM (Jul 2004). "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. doi:10.4049/jimmunol.173.1.410. PMID 15210800.
• Hjerrild M, Stensballe A, Rasmussen TE, Kofoed CB, Blom N, Sicheritz-Ponten T, Larsen MR, Brunak S, Jensen ON, Gammeltoft S (2004). "Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry". Journal of Proteome Research 3 (3): 426–33. 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.