RFX5 Knowpia

RFX5
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	2KW3, 3V30
Identifiers
Aliases	RFX5, regulatory factor X5
External IDs	OMIM: 601863 HomoloGene: 388 GeneCards: RFX5
Gene location (Human)
Chr.	Chromosome 1 (human)
End	151,347,357 bp
RNA expression pattern
	Top expressed in
	lymph node; ; monocyte; ; appendix; ; rectum; ; thymus; ; spleen; ; pons; ; smooth muscle tissue; ; gallbladder; ; palpebral conjunctiva;
	n/a
	More reference expression data
	; ;
	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
	5993
	n/a
	ENSG00000143390
	n/a
	P48382
	n/a
	NM_000449; NM_001025603
	n/a
NP_000440; NP_001020774; NP_001366341; NP_001366342; NP_001366343;
	NP_001366344; NP_001366345; NP_001366346; NP_001366347; NP_001366348; NP_001366349
	n/a
	Wikidata
View/Edit Human

DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.^[3]^[4]

Function edit

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.^[4]

Interactions edit

RFX5 has been shown to interact with CIITA.^[5]^[6]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143390 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)".
^ 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.
^ 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 edit

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.