RFX5: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''DNA-binding protein RFX5''' is a [[protein]] that in humans is encoded by the ''RFX5'' [[gene]].<ref name="pmid9401005">{{cite journal | vauthors = Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SE, Van den Elsen PJ, Mach B | title = Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency | journal = Human Mutation | volume = 10 | issue = 6 | pages = 430–5 | date = January 1998 | pmid = 9401005 | pmc =  | doi = 10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Regulatory factor X, 5 (influences HLA class II expression)
| HGNCid = 9986
| Symbol = RFX5
| AltSymbols =;
| OMIM = 601863
| ECnumber = 
| Homologene = 388
| MGIid = 1858421
| GeneAtlas_image1 = PBB_GE_RFX5_202963_at_tn.png
| GeneAtlas_image2 = PBB_GE_RFX5_202964_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5993
    | Hs_Ensembl = ENSG00000143390
    | Hs_RefseqProtein = NP_000440
    | Hs_RefseqmRNA = NM_000449
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 149579740
    | Hs_GenLoc_end = 149586457
    | Hs_Uniprot = P48382
    | Mm_EntrezGene = 53970
    | Mm_Ensembl = ENSMUSG00000005774
    | Mm_RefseqmRNA = NM_001025601
    | Mm_RefseqProtein = NP_001020772
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 95039574
    | Mm_GenLoc_end = 95046752
    | Mm_Uniprot = 
  }}
}}
'''Regulatory factor X, 5 (influences HLA class II expression)''', also known as '''RFX5''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5993| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
RFX5 has been shown to [[Protein-protein interaction|interact]] with [[CIITA]].<ref name=pmid11003667>{{cite journal | vauthors = Hake SB, Masternak K, Kammerbauer C, Janzen C, Reith W, Steimle V | title = 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 | journal = Molecular and Cellular Biology | volume = 20 | issue = 20 | pages = 7716–25 | date = Oct 2000 | pmid = 11003667 | pmc = 86349 | doi = 10.1128/MCB.20.20.7716-7725.2000 }}</ref><ref name=pmid9177217>{{cite journal | vauthors = Scholl T, Mahanta SK, Strominger JL | title = Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 12 | pages = 6330–4 | date = Jun 1997 | pmid = 9177217 | pmc = 21049 | doi = 10.1073/pnas.94.12.6330 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Reith W, Mach B | title = The bare lymphocyte syndrome and the regulation of MHC expression | journal = Annual Review of Immunology | volume = 19 | issue =  | pages = 331–73 | year = 2001 | pmid = 11244040 | doi = 10.1146/annurev.immunol.19.1.331 }}
| citations =
* {{cite journal | vauthors = Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B, Reith W | title = A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome) | journal = Genes & Development | volume = 9 | issue = 9 | pages = 1021–32 | date = May 1995 | pmid = 7744245 | doi = 10.1101/gad.9.9.1021 }}
*{{cite journal | author=Reith W, Mach B |title=The bare lymphocyte syndrome and the regulation of MHC expression. |journal=Annu. Rev. Immunol. |volume=19 |issue=  |pages= 331-73 |year= 2001 |pmid= 11244040 |doi= 10.1146/annurev.immunol.19.1.331 }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal | author=Steimle V, Durand B, Barras E, ''et al.'' |title=A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). |journal=Genes Dev. |volume=9 |issue= 9 |pages= 1021-32 |year= 1995 |pmid= 7744245 |doi= }}
* {{cite journal | vauthors = Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W | title = RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency | journal = The EMBO Journal | volume = 16 | issue = 5 | pages = 1045–55 | date = Mar 1997 | pmid = 9118943 | pmc = 1169704 | doi = 10.1093/emboj/16.5.1045 }}
*{{cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
* {{cite journal | vauthors = Scholl T, Mahanta SK, Strominger JL | title = Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 12 | pages = 6330–4 | date = Jun 1997 | pmid = 9177217 | pmc = 21049 | doi = 10.1073/pnas.94.12.6330 }}
*{{cite journal | author=Durand B, Sperisen P, Emery P, ''et al.'' |title=RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. |journal=EMBO J. |volume=16 |issue= 5 |pages= 1045-55 |year= 1997 |pmid= 9118943 |doi= 10.1093/emboj/16.5.1045 }}
* {{cite journal | vauthors = Moreno CS, Rogers EM, Brown JA, Boss JM | title = Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex | journal = Journal of Immunology | volume = 158 | issue = 12 | pages = 5841–8 | date = Jun 1997 | pmid = 9190936 | doi =  }}
*{{cite journal | author=Scholl T, Mahanta SK, Strominger JL |title=Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 12 |pages= 6330-4 |year= 1997 |pmid= 9177217 |doi= }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | author=Moreno CS, Rogers EM, Brown JA, Boss JM |title=Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. |journal=J. Immunol. |volume=158 |issue= 12 |pages= 5841-8 |year= 1997 |pmid= 9190936 |doi=  }}
* {{cite journal | vauthors = Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W | title = A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients | journal = Nature Genetics | volume = 20 | issue = 3 | pages = 273–7 | date = Nov 1998 | pmid = 9806546 | doi = 10.1038/3081 }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
* {{cite journal | vauthors = Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM | title = RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency | journal = Immunity | volume = 10 | issue = 2 | pages = 153–62 | date = Feb 1999 | pmid = 10072068 | doi = 10.1016/S1074-7613(00)80016-3 }}
*{{cite journal | author=Villard J, Reith W, Barras E, ''et al.'' |title=Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. |journal=Hum. Mutat. |volume=10 |issue= 6 |pages= 430-5 |year= 1998 |pmid= 9401005 |doi= 10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H }}
* {{cite journal | vauthors = Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ | title = Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene | journal = Immunogenetics | volume = 49 | issue = 4 | pages = 338–45 | date = Apr 1999 | pmid = 10079298 | doi = 10.1007/s002510050501 }}
*{{cite journal | author=Masternak K, Barras E, Zufferey M, ''et al.'' |title=A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. |journal=Nat. Genet. |volume=20 |issue= 3 |pages= 273-7 |year= 1998 |pmid= 9806546 |doi= 10.1038/3081 }}
* {{cite journal | vauthors = Villard J, Peretti M, Masternak K, Barras E, Caretti G, Mantovani R, Reith W | title = A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y | journal = Molecular and Cellular Biology | volume = 20 | issue = 10 | pages = 3364–76 | date = May 2000 | pmid = 10779326 | pmc = 85629 | doi = 10.1128/MCB.20.10.3364-3376.2000 }}
*{{cite journal | author=Nagarajan UM, Louis-Plence P, DeSandro A, ''et al.'' |title=RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. |journal=Immunity |volume=10 |issue= 2 |pages= 153-62 |year= 1999 |pmid= 10072068 |doi= }}
* {{cite journal | vauthors = Nekrep N, Jabrane-Ferrat N, Peterlin BM | title = Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex | journal = Molecular and Cellular Biology | volume = 20 | issue = 12 | pages = 4455–61 | date = Jun 2000 | pmid = 10825209 | pmc = 85813 | doi = 10.1128/MCB.20.12.4455-4461.2000 }}
*{{cite journal | author=Peijnenburg A, Van Eggermond MC, Van den Berg R, ''et al.'' |title=Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene. |journal=Immunogenetics |volume=49 |issue= 4 |pages= 338-45 |year= 1999 |pmid= 10079298 |doi= }}
* {{cite journal | vauthors = Sengupta PK, Fargo J, Smith BD | title = The RFX family interacts at the collagen (COL1A2) start site and represses transcription | journal = The Journal of Biological Chemistry | volume = 277 | issue = 28 | pages = 24926–37 | date = Jul 2002 | pmid = 11986307 | doi = 10.1074/jbc.M111712200 }}
*{{cite journal | author=Villard J, Peretti M, Masternak K, ''et al.'' |title=A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y. |journal=Mol. Cell. Biol. |volume=20 |issue= 10 |pages= 3364-76 |year= 2000 |pmid= 10779326 |doi= }}
* {{cite journal | vauthors = Nekrep N, Jabrane-Ferrat N, Wolf HM, Eibl MM, Geyer M, Peterlin BM | title = Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome | journal = Nature Immunology | volume = 3 | issue = 11 | pages = 1075–81 | date = Nov 2002 | pmid = 12368908 | doi = 10.1038/ni840 }}
*{{cite journal | author=Nekrep N, Jabrane-Ferrat N, Peterlin BM |title=Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex. |journal=Mol. Cell. Biol. |volume=20 |issue= 12 |pages= 4455-61 |year= 2000 |pmid= 10825209 |doi= }}
* {{cite journal | vauthors = Xu Y, Wang L, Buttice G, Sengupta PK, Smith BD | title = Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex | journal = The Journal of Biological Chemistry | volume = 278 | issue = 49 | pages = 49134–44 | date = Dec 2003 | pmid = 12968017 | doi = 10.1074/jbc.M309003200 }}
*{{cite journal | author=Sengupta PK, Fargo J, Smith BD |title=The RFX family interacts at the collagen (COL1A2) start site and represses transcription. |journal=J. Biol. Chem. |volume=277 |issue= 28 |pages= 24926-37 |year= 2002 |pmid= 11986307 |doi= 10.1074/jbc.M111712200 }}
* {{cite journal | vauthors = Nagarajan UM, Long AB, Harreman MT, Corbett AH, Boss JM | title = A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression | journal = Journal of Immunology | volume = 173 | issue = 1 | pages = 410–9 | date = Jul 2004 | pmid = 15210800 | doi = 10.4049/jimmunol.173.1.410 }}
*{{cite journal | author=Nekrep N, Jabrane-Ferrat N, Wolf HM, ''et al.'' |title=Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. |journal=Nat. Immunol. |volume=3 |issue= 11 |pages= 1075-81 |year= 2002 |pmid= 12368908 |doi= 10.1038/ni840 }}
* {{cite journal | vauthors = Hjerrild M, Stensballe A, Rasmussen TE, Kofoed CB, Blom N, Sicheritz-Ponten T, Larsen MR, Brunak S, Jensen ON, Gammeltoft S | title = Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry | journal = Journal of Proteome Research | volume = 3 | issue = 3 | pages = 426–33 | year = 2004 | pmid = 15253423 | doi = 10.1021/pr0341033 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Xu Y, Wang L, Buttice G, ''et al.'' |title=Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex. |journal=J. Biol. Chem. |volume=278 |issue= 49 |pages= 49134-44 |year= 2004 |pmid= 12968017 |doi= 10.1074/jbc.M309003200 }}
*{{cite journal  | author=Nagarajan UM, Long AB, Harreman MT, ''et al.'' |title=A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression. |journal=J. Immunol. |volume=173 |issue= 1 |pages= 410-9 |year= 2004 |pmid= 15210800 |doi=  }}
*{{cite journal  | author=Hjerrild M, Stensballe A, Rasmussen TE, ''et al.'' |title=Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry. |journal=J. Proteome Res. |volume=3 |issue= 3 |pages= 426-33 |year= 2004 |pmid= 15253423 |doi=  }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|RFX5+protein,+human}}
* {{MeshName|RFX5+protein,+human}}
* {{FactorBook|RFX5}}


{{NLM content}}
{{Transcription factors|g1}}


{{protein-stub}}
{{NLM content}}
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{gene-1-stub}}

Latest revision as of 09:09, 10 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.[1][2]

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.[2]

Interactions

RFX5 has been shown to interact with CIITA.[3][4]

References

  1. 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.
  2. 2.0 2.1 "Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)".
  3. 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.
  4. 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. doi:10.1073/pnas.94.12.6330. PMC 21049. PMID 9177217.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.