RFX5
From Wikipedia, the free encyclopedia
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Regulatory factor X, 5 (influences HLA class II expression)
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| Identifiers | ||||||||||||||
| Symbol(s) | RFX5; | |||||||||||||
| External IDs | OMIM: 601863 MGI: 1858421 HomoloGene: 388 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 5993 | 53970 | ||||||||||||
| Ensembl | ENSG00000143390 | ENSMUSG00000005774 | ||||||||||||
| Uniprot | P48382 | n/a | ||||||||||||
| Refseq | NM_000449 (mRNA) NP_000440 (protein) |
NM_001025601 (mRNA) NP_001020772 (protein) |
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| Location | Chr 1: 149.58 - 149.59 Mb | Chr 3: 95.04 - 95.05 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Regulatory factor X, 5 (influences HLA class II expression), also known as RFX5, is a human gene.[1]
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.[1]
[edit] References
[edit] Further reading
- Reith W, Mach B (2001). "The bare lymphocyte syndrome and the regulation of MHC expression.". Annu. Rev. Immunol. 19: 331–73. doi:. 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.
- 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:. PMID 9118943.
- 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.
- 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. PMID 9373149.
- 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:. PMID 9401005.
- 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:. 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. 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. 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. PMID 10779326.
- 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.
- 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:. 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:. 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:. PMID 12477932.
- 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:. 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. PMID 15253423.
[edit] External links
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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