RFX5

RFX5
Available structures PDB Ortholog search: PDBe RCSB 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)[1] Band 1q21.3 Start 151,340,640 bp[1] End 151,347,357 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.1|3 40.74 cM Start 94,861,386 bp[2] End 94,868,872 bp[2]
RNA expression pattern 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 PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.^[5][6]

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.^[6]

Interactions

RFX5 has been shown to interact with CIITA.^[7][8]

References

1. GRCh38: Ensembl release 89: ENSG00000143390 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000005774 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. S2CID 41660134.
6. "Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)".
7. 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.
8. 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. 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. Bibcode:1997PNAS...94.6330S. 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. doi:10.4049/jimmunol.158.12.5841. 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. S2CID 23780606.
• 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. S2CID 23271370.
• 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. S2CID 7241082.
• 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 U.S. 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.