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Available structures
PDBHuman UniProt search: PDBe RCSB
AliasesRFX5, regulatory factor X5
External IDsOMIM: 601863 HomoloGene: 388 GeneCards: RFX5
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for RFX5
Genomic location for RFX5
Band1q21.3Start151,340,640 bp[1]
End151,347,357 bp[1]
RNA expression pattern
PBB GE RFX5 202964 s at fs.png

PBB GE RFX5 202963 at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 1: 151.34 – 151.35 Mbn/a
PubMed search[2]n/a
View/Edit Human

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


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]


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


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143390 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ 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.
  4. ^ a b "Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)".
  5. ^ 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.
  6. ^ 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[edit]

External links[edit]

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