RFX5

RFX5
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
Aliases RFX5
External IDs HomoloGene: 388 GeneCards: RFX5
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

5993

n/a

Ensembl

ENSG00000143390

n/a

UniProt

P48382

n/a

RefSeq (mRNA)

NM_000449
NM_001025603

n/a

RefSeq (protein)

NP_000440.1
NP_001020774.1

n/a

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

DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.[2][3]

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.[3]

Interactions

RFX5 has been shown to interact with CIITA.[4][5]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ 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.
  3. 1 2 "Entrez Gene: RFX5 regulatory factor X, 5 (influences HLA class II expression)".
  4. ↑ 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 86349Freely accessible. PMID 11003667.
  5. ↑ 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 21049Freely accessible. PMID 9177217.

Further reading

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


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