Open Access Articles- Top Results for RFX5


External IDsOMIM601863 MGI1858421 HomoloGene388 GeneCards: RFX5 Gene
RNA expression pattern
File:PBB GE RFX5 202963 at tn.png
File:PBB GE RFX5 202964 s at tn.png
More reference expression data
RefSeq (mRNA)NM_000449NM_017395
RefSeq (protein)NP_000440NP_059091
Location (UCSC)Chr 1:
151.31 – 151.32 Mb
Chr 3:
94.95 – 94.96 Mb
PubMed search[1][2]

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

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.[2]


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


  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". Hum Mutat 10 (6): 430–5. PMID 9401005. doi:10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H. 
  2. ^ a b "Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)". 
  3. ^ Hake, S B; Masternak K; Kammerbauer C; Janzen C; Reith W; Steimle V (October 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". Mol. Cell. Biol. (UNITED STATES) 20 (20): 7716–25. ISSN 0270-7306. PMC 86349. PMID 11003667. doi:10.1128/MCB.20.20.7716-7725.2000. 
  4. ^ Scholl, T; Mahanta S K; Strominger J L (June 1997). "Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 94 (12): 6330–4. ISSN 0027-8424. PMC 21049. PMID 9177217. doi:10.1073/pnas.94.12.6330. 

Further reading


External links

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

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