RFX5

RFX5
Available structures PDB Ortholog search:PDBeRCSB List of PDB id codes 2KW3,3V30
Identifiers
Aliases	RFX5,regulatory factor X5
External IDs	OMIM:601863;MGI:1858421;HomoloGene:388;GeneCards:RFX5;OMA:RFX5 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q21.3 Start 151,340,640bp End 151,347,357bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3 F2.1|3 40.74 cM Start 94,861,386bp End 94,868,872bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in epithelium of nasopharynx lymph node monocyte appendix granulocyte right adrenal cortex rectum tonsil spleen pons Top expressed in Scarpa's ganglion secondary oocyte ciliary body primary oocyte substantia nigra zygote retinal pigment epithelium Paneth cell neural layer of retina medullary collecting duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding protein binding DNA-binding transcription activator activity, RNA polymerase II-specific sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated regulation of transcription by RNA polymerase II transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 5993 53970 Ensembl ENSG00000143390 ENSMUSG00000005774 UniProt P48382 Q9JL61 RefSeq (mRNA) NM_000449 NM_001025603 NM_017395 NM_001355705 NM_001355706 NM_001355707 NM_001025601 RefSeq (protein) NP_000440 NP_001020774 NP_001366341 NP_001366342 NP_001366343 NP_001366344 NP_001366345 NP_001366346 NP_001366347 NP_001366348 NP_001366349 NP_059091 NP_001342634 NP_001342635 NP_001342636 Location (UCSC) Chr 1: 151.34 – 151.35 Mb Chr 3: 94.86 – 94.87 Mb PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

DNA-binding protein RFX5is aproteinthat in humans is encoded by theRFX5gene.

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 tointeractwithCIITA.

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.PMID11244040.
• 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.PMID7744245.
• 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.PMID8125298.
• 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.PMC1169704.PMID9118943.
• 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.Bibcode:1997PNAS...94.6330S.doi:10.1073/pnas.94.12.6330.PMC21049.PMID9177217.
• 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.doi:10.4049/jimmunol.158.12.5841.PMID9190936.
• 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.PMID9373149.
• 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.PMID9806546.S2CID23780606.
• 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.PMID10072068.
• 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.PMID10079298.S2CID23271370.
• 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.PMC85629.PMID10779326.
• 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.PMC85813.PMID10825209.
• 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.PMID11986307.
• 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.PMID12368908.S2CID7241082.
• 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.PMID12968017.
• 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.PMID15210800.
• 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.PMID15253423.

External links

• RFX5+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
• FactorBookRFX5

This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.