The RFX1 gene is a member of the regulatory factor X (RFX) gene family, which encodes transcription factors that contain five conserved domains including a highly conserved, centrally located, winged helix DNA binding domain as well as a dimerization domain located in the C-terminal region of the sequence.[8] Apart from the five conserved domains, the RFX proteins diverge significantly. The DNA binding and dimerization domains of the RFX family proteins show no similarities to the other domains with the same functions in other proteins.[6]
Species distributionedit
The RFX protein family is conserved in S. pombe, S. cerevisiae, C. elegans, mice and humans.[9] There are seven known RFX proteins in humans, five in mice, and one in C. elegans as well as one in each of the two species of yeast.[9][10]
Functionedit
The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the Xboxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes.[7] The RFX proteins were originally cloned and characterized due to their high affinity for a cis-acting promoter sequence, called the Xbox, found in all MHC class II genes.[6]
Levels of mRNA encoding this protein as well as RFX2 and RFX3 are found to be consistently elevated in the testis and are variable in other tissues throughout the body.[6]
RFX1 contains a C-terminal sequence with no apparent homology to other RFX proteins. This C-terminal tail contains an acidic region that is thought to aid in crossing the nuclear membrane. Two major functions are hypothesized to this exist for this domain: a contribution to the nuclear localization signal (NLS) as well as the contradictory down-regulation of DNA binding as well as nuclear association. These two functions were originally identified through sequence mutations and translational fusions with gfp (green fluorescent protein) and remain to be confirmed.[11]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000031706 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Pugliatti L, Derre J, Berger R, Ucla C, Reith W, Mach B (Sep 1992). "The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19". Genomics. 13 (4): 1307–10. doi:10.1016/0888-7543(92)90052-T. PMID 1505960.
^ abcdReith W, Ucla C, Barras E, Gaud A, Durand B, Herrero-Sanchez C, Kobr M, Mach B (Feb 1994). "RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins". Mol Cell Biol. 14 (2): 1230–44. doi:10.1128/mcb.14.2.1230. PMC358479. PMID 8289803.
^ ab"Entrez Gene: RFX1 regulatory factor X, 1 (influences HLA class II expression)".
^Emery P, Durand B, Mach B, Reith W (March 1996). "RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom". Nucleic Acids Res. 24 (5): 803–7. doi:10.1093/nar/24.5.803. PMC145730. PMID 8600444.
^ abcAgami R, Shaul Y (April 1998). "The kinase activity of c-Abl but not v-Abl is potentiated by direct interaction with RFXI, a protein that binds the enhancers of several viruses and cell-cycle regulated genes". Oncogene. 16 (14): 1779–88. doi:10.1038/sj.onc.1201708. PMID 9583676.
^Aftab S, Semenec L, Chu JS, Chen N (2008). "Identification and characterization of novel human tissue-specific RFX transcription factors". BMC Evol. Biol. 8 (1): 226. Bibcode:2008BMCEE...8..226A. doi:10.1186/1471-2148-8-226. PMC2533330. PMID 18673564.
^Katan-Khaykovich Y, Shaul Y (May 2001). "Nuclear import and DNA-binding activity of RFX1. Evidence for an autoinhibitory mechanism". Eur. J. Biochem. 268 (10): 3108–16. doi:10.1046/j.1432-1327.2001.02211.x. PMID 11358531.
Further readingedit
Herrero Sanchez C, Reith W, Silacci P, Mach B (1992). "The DNA-binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters". Mol. Cell. Biol. 12 (9): 4076–83. doi:10.1128/mcb.12.9.4076. PMC360302. PMID 1508204.
Reith W, Herrero-Sanchez C, Kobr M, et al. (1991). "MHC class II regulatory factor RFX has a novel DNA-binding domain and a functionally independent dimerization domain". Genes Dev. 4 (9): 1528–40. doi:10.1101/gad.4.9.1528. PMID 2253877.
Sáfrány G, Perry RP (1993). "Transcription factor RFX1 helps control the promoter of the mouse ribosomal protein-encoding gene rpL30 by binding to its alpha element". Gene. 132 (2): 279–83. doi:10.1016/0378-1119(93)90208-K. PMID 8224874.
Siegrist CA, Durand B, Emery P, et al. (1993). "RFX1 is identical to enhancer factor C and functions as a transactivator of the hepatitis B virus enhancer". Mol. Cell. Biol. 13 (10): 6375–84. doi:10.1128/mcb.13.10.6375. PMC364696. PMID 8413236.
Emery P, Durand B, Mach B, Reith W (1996). "RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom". Nucleic Acids Res. 24 (5): 803–7. doi:10.1093/nar/24.5.803. PMC145730. PMID 8600444.
Doyle J, Hoffman S, Ucla C, et al. (1996). "Locations of human and mouse genes encoding the RFX1 and RFX2 transcription factor proteins". Genomics. 35 (1): 227–30. doi:10.1006/geno.1996.0343. PMID 8661125.
Katan-Khaykovich Y, Shaul Y (1998). "RFX1, a single DNA-binding protein with a split dimerization domain, generates alternative complexes". J. Biol. Chem. 273 (38): 24504–12. doi:10.1074/jbc.273.38.24504. PMID 9733744.
Iwama A, Pan J, Zhang P, et al. (1999). "Dimeric RFX proteins contribute to the activity and lineage specificity of the interleukin-5 receptor alpha promoter through activation and repression domains". Mol. Cell. Biol. 19 (6): 3940–50. doi:10.1128/mcb.19.6.3940. PMC104353. PMID 10330134.
Zajac-Kaye M, Ben-Baruch N, Kastanos E, et al. (2000). "Induction of Myc-intron-binding polypeptides MIBP1 and RFX1 during retinoic acid-mediated differentiation of haemopoietic cells". Biochem. J. 345. 345 (3): 535–41. doi:10.1042/0264-6021:3450535. PMC1220788. PMID 10642512.
Morotomi-Yano K, Yano K, Saito H, et al. (2002). "Human regulatory factor X 4 (RFX4) is a testis-specific dimeric DNA-binding protein that cooperates with other human RFX members". J. Biol. Chem. 277 (1): 836–42. doi:10.1074/jbc.M108638200. PMID 11682486.
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:10.1074/jbc.M111712200. PMID 11986307.
Nakayama A, Murakami H, Maeyama N, et al. (2003). "Role for RFX transcription factors in non-neuronal cell-specific inactivation of the microtubule-associated protein MAP1A promoter". J. Biol. Chem. 278 (1): 233–40. doi:10.1074/jbc.M209574200. PMID 12411430.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Norquay LD, Yang X, Sheppard P, et al. (2003). "RFX1 and NF-1 associate with P sequences of the human growth hormone locus in pituitary chromatin". Mol. Endocrinol. 17 (6): 1027–38. CiteSeerX10.1.1.325.4046. doi:10.1210/me.2003-0025. PMID 12624117.
Maijgren S, Sur I, Nilsson M, Toftgård R (2004). "Involvement of RFX proteins in transcriptional activation from a Ras-responsive enhancer element". Arch. Dermatol. Res. 295 (11): 482–9. doi:10.1007/s00403-004-0456-5. PMID 15024578. S2CID 2408607.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC514446. PMID 15302935.
rfx1, class, regulatory, factor, protein, that, humans, encoded, gene, located, short, chromosome, available, structurespdbortholog, search, pdbe, rcsblist, codes1dp7identifiersaliases, regulatory, factor, x1external, idsomim, 600006, 105982, homologene, 2189,. MHC class II regulatory factor RFX1 is a protein that in humans is encoded by the RFX1 gene located on the short arm of chromosome 19 5 6 7 RFX1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1DP7IdentifiersAliasesRFX1 EFC RFX regulatory factor X1External IDsOMIM 600006 MGI 105982 HomoloGene 2189 GeneCards RFX1Gene location Human Chr Chromosome 19 human 1 Band19p13 12Start13 961 530 bp 1 End14 007 039 bp 1 Gene location Mouse Chr Chromosome 8 mouse 2 Band8 C2 8 40 28 cMStart84 793 463 bp 2 End84 823 621 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inpituitary glandright uterine tubeanterior pituitarybloodright lobe of thyroid glandbone marrow cellscanal of the cervixleft lobe of thyroid glandgastrocnemius musclemonocyteTop expressed inascending aortaaortic valvespermatidseminiferous tubulebloodsuperior frontal gyrusthymusfemale urethrasupraoptic nucleusendocardial cushionMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionRNA polymerase II cis regulatory region sequence specific DNA binding transcription factor activity RNA polymerase II distal enhancer sequence specific binding DNA binding protein binding DNA binding transcription factor activity RNA polymerase II specific DNA binding transcription factor activityCellular componentintracellular membrane bounded organelle nucleoplasm nucleusBiological processregulation of transcription DNA templated immune response transcription DNA templated regulation of transcription by RNA polymerase IISources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez598919724EnsemblENSG00000132005ENSG00000288283ENSMUSG00000031706UniProtP22670P48377RefSeq mRNA NM 002918NM 009055RefSeq protein NP 002909NP 033081Location UCSC Chr 19 13 96 14 01 MbChr 8 84 79 84 82 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Species distribution 3 Function 4 Interactions 5 References 6 Further reading 7 External linksStructure editThe RFX1 gene is a member of the regulatory factor X RFX gene family which encodes transcription factors that contain five conserved domains including a highly conserved centrally located winged helix DNA binding domain as well as a dimerization domain located in the C terminal region of the sequence 8 Apart from the five conserved domains the RFX proteins diverge significantly The DNA binding and dimerization domains of the RFX family proteins show no similarities to the other domains with the same functions in other proteins 6 Species distribution editThe RFX protein family is conserved in S pombe S cerevisiae C elegans mice and humans 9 There are seven known RFX proteins in humans five in mice and one in C elegans as well as one in each of the two species of yeast 9 10 Function editThe protein encoded by this gene is structurally related to regulatory factors X2 X3 X4 and X5 It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2 X3 and X5 but not with X4 This protein binds to the Xboxes of MHC class II genes and is essential for their expression Also it can bind to an inverted repeat that is required for expression of hepatitis B virus genes 7 The RFX proteins were originally cloned and characterized due to their high affinity for a cis acting promoter sequence called the Xbox found in all MHC class II genes 6 Levels of mRNA encoding this protein as well as RFX2 and RFX3 are found to be consistently elevated in the testis and are variable in other tissues throughout the body 6 RFX1 contains a C terminal sequence with no apparent homology to other RFX proteins This C terminal tail contains an acidic region that is thought to aid in crossing the nuclear membrane Two major functions are hypothesized to this exist for this domain a contribution to the nuclear localization signal NLS as well as the contradictory down regulation of DNA binding as well as nuclear association These two functions were originally identified through sequence mutations and translational fusions with gfp green fluorescent protein and remain to be confirmed 11 Interactions editRFX1 has been shown to interact with Abl gene 9 References edit a b c ENSG00000288283 GRCh38 Ensembl release 89 ENSG00000132005 ENSG00000288283 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000031706 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Pugliatti L Derre J Berger R Ucla C Reith W Mach B Sep 1992 The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19 Genomics 13 4 1307 10 doi 10 1016 0888 7543 92 90052 T PMID 1505960 a b c d Reith W Ucla C Barras E Gaud A Durand B Herrero Sanchez C Kobr M Mach B Feb 1994 RFX1 a transactivator of hepatitis B virus enhancer I belongs to a novel family of homodimeric and heterodimeric DNA binding proteins Mol Cell Biol 14 2 1230 44 doi 10 1128 mcb 14 2 1230 PMC 358479 PMID 8289803 a b Entrez Gene RFX1 regulatory factor X 1 influences HLA class II expression Emery P Durand B Mach B Reith W March 1996 RFX proteins a novel family of DNA binding proteins conserved in the eukaryotic kingdom Nucleic Acids Res 24 5 803 7 doi 10 1093 nar 24 5 803 PMC 145730 PMID 8600444 a b c Agami R Shaul Y April 1998 The kinase activity of c Abl but not v Abl is potentiated by direct interaction with RFXI a protein that binds the enhancers of several viruses and cell cycle regulated genes Oncogene 16 14 1779 88 doi 10 1038 sj onc 1201708 PMID 9583676 Aftab S Semenec L Chu JS Chen N 2008 Identification and characterization of novel human tissue specific RFX transcription factors BMC Evol Biol 8 1 226 Bibcode 2008BMCEE 8 226A doi 10 1186 1471 2148 8 226 PMC 2533330 PMID 18673564 Katan Khaykovich Y Shaul Y May 2001 Nuclear import and DNA binding activity of RFX1 Evidence for an autoinhibitory mechanism Eur J Biochem 268 10 3108 16 doi 10 1046 j 1432 1327 2001 02211 x PMID 11358531 Further reading editHerrero Sanchez C Reith W Silacci P Mach B 1992 The DNA binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters Mol Cell Biol 12 9 4076 83 doi 10 1128 mcb 12 9 4076 PMC 360302 PMID 1508204 Reith W Herrero Sanchez C Kobr M et al 1991 MHC class II regulatory factor RFX has a novel DNA binding domain and a functionally independent dimerization domain Genes Dev 4 9 1528 40 doi 10 1101 gad 4 9 1528 PMID 2253877 Safrany G Perry RP 1993 Transcription factor RFX1 helps control the promoter of the mouse ribosomal protein encoding gene rpL30 by binding to its alpha element Gene 132 2 279 83 doi 10 1016 0378 1119 93 90208 K PMID 8224874 Siegrist CA Durand B Emery P et al 1993 RFX1 is identical to enhancer factor C and functions as a transactivator of the hepatitis B virus enhancer Mol Cell Biol 13 10 6375 84 doi 10 1128 mcb 13 10 6375 PMC 364696 PMID 8413236 Emery P Durand B Mach B Reith W 1996 RFX proteins a novel family of DNA binding proteins conserved in the eukaryotic kingdom Nucleic Acids Res 24 5 803 7 doi 10 1093 nar 24 5 803 PMC 145730 PMID 8600444 Doyle J Hoffman S Ucla C et al 1996 Locations of human and mouse genes encoding the RFX1 and RFX2 transcription factor proteins Genomics 35 1 227 30 doi 10 1006 geno 1996 0343 PMID 8661125 Katan Khaykovich Y Shaul Y 1998 RFX1 a single DNA binding protein with a split dimerization domain generates alternative complexes J Biol Chem 273 38 24504 12 doi 10 1074 jbc 273 38 24504 PMID 9733744 Iwama A Pan J Zhang P et al 1999 Dimeric RFX proteins contribute to the activity and lineage specificity of the interleukin 5 receptor alpha promoter through activation and repression domains Mol Cell Biol 19 6 3940 50 doi 10 1128 mcb 19 6 3940 PMC 104353 PMID 10330134 Zajac Kaye M Ben Baruch N Kastanos E et al 2000 Induction of Myc intron binding polypeptides MIBP1 and RFX1 during retinoic acid mediated differentiation of haemopoietic cells Biochem J 345 345 3 535 41 doi 10 1042 0264 6021 3450535 PMC 1220788 PMID 10642512 Morotomi Yano K Yano K Saito H et al 2002 Human regulatory factor X 4 RFX4 is a testis specific dimeric DNA binding protein that cooperates with other human RFX members J Biol Chem 277 1 836 42 doi 10 1074 jbc M108638200 PMID 11682486 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 10 1074 jbc M111712200 PMID 11986307 Nakayama A Murakami H Maeyama N et al 2003 Role for RFX transcription factors in non neuronal cell specific inactivation of the microtubule associated protein MAP1A promoter J Biol Chem 278 1 233 40 doi 10 1074 jbc M209574200 PMID 12411430 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Norquay LD Yang X Sheppard P et al 2003 RFX1 and NF 1 associate with P sequences of the human growth hormone locus in pituitary chromatin Mol Endocrinol 17 6 1027 38 CiteSeerX 10 1 1 325 4046 doi 10 1210 me 2003 0025 PMID 12624117 Maijgren S Sur I Nilsson M Toftgard R 2004 Involvement of RFX proteins in transcriptional activation from a Ras responsive enhancer element Arch Dermatol Res 295 11 482 9 doi 10 1007 s00403 004 0456 5 PMID 15024578 S2CID 2408607 Beausoleil SA Jedrychowski M Schwartz D et al 2004 Large scale characterization of HeLa cell nuclear phosphoproteins Proc Natl Acad Sci U S A 101 33 12130 5 Bibcode 2004PNAS 10112130B doi 10 1073 pnas 0404720101 PMC 514446 PMID 15302935 External links editRFX1 protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title RFX1 amp oldid 1188047903, wikipedia, wiki, book, books, library,
