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Regulatory factor X-associated ankyrin-containing protein
Identifiers
Symbols RFXANK; ANKRA1; BLS; F14150_1; MGC138628; RFX-B
External IDs OMIM603200 MGI1333865 HomoloGene2760 GeneCards: RFXANK Gene
RNA expression pattern
PBB GE RFXANK 202758 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8625 19727
Ensembl ENSG00000064490 ENSMUSG00000036120
UniProt O14593 Q3UK69
RefSeq (mRNA) NM_003721 NM_001025589
RefSeq (protein) NP_003712 NP_001020760
Location (UCSC) Chr 19:
19.16 - 19.17 Mb
Chr 8:
73.06 - 73.07 Mb
PubMed search [1] [2]

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.[1][2][3]

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity.[3]

Interactions

RFXANK has been shown to interact with RFXAP[4][5] and CIITA.[4][6]

References

  1. ^ Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W (Nov 1998). "A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients". Nat Genet 20 (3): 273–7. doi:10.1038/3081. PMID 9806546.  
  2. ^ Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM (Mar 1999). "RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency". Immunity 10 (2): 153–62. PMID 10072068.  
  3. ^ a b "Entrez Gene: RFXANK regulatory factor X-associated ankyrin-containing protein". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8625.  
  4. ^ a b Nekrep, N; Geyer M, Jabrane-Ferrat N, Peterlin B M (Aug. 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Mol. Cell. Biol. (United States) 21 (16): 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. ISSN 0270-7306. PMID 11463838.  
  5. ^ Nekrep, N; Jabrane-Ferrat N, Peterlin B M (Jun. 2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Mol. Cell. Biol. (UNITED STATES) 20 (12): 4455–61. ISSN 0270-7306. PMID 10825209.  
  6. ^ Hake, S B; 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". Mol. Cell. Biol. (UNITED STATES) 20 (20): 7716–25. ISSN 0270-7306. PMID 11003667.  

Further reading

  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.  
  • Lin JH, Makris A, McMahon C, et al. (1999). "The ankyrin repeat-containing adaptor protein Tvl-1 is a novel substrate and regulator of Raf-1.". J. Biol. Chem. 274 (21): 14706–15. doi:10.1074/jbc.274.21.14706. PMID 10329666.  
  • Nagarajan UM, Peijnenburg A, Gobin SJ, et al. (2000). "Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.". J. Immunol. 164 (7): 3666–74. PMID 10725724.  
  • Wiszniewski W, Fondaneche MC, Lambert N, et al. (2000). "Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.". Immunogenetics 51 (4-5): 261–7. doi:10.1007/s002510050619. PMID 10803838.  
  • Nekrep N, Jabrane-Ferrat N, Peterlin BM (2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.". Mol. Cell. Biol. 20 (12): 4455–61. doi:10.1128/MCB.20.12.4455-4461.2000. PMID 10825209.  
  • Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMID 11042152.  
  • Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM (2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome.". Mol. Cell. Biol. 21 (16): 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. PMID 11463838.  
  • Dimberg J, Hugander A, Häll-Karlsson BM, Sirsjö A (2002). "RFX-B, a MHC class II transcription factor, suppressed in human colorectal adenocarcinomas.". Int. J. Mol. Med. 9 (3): 213–6. PMID 11836625.  
  • 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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Wiszniewski W, Fondaneche MC, Louise-Plence P, et al. (2003). "Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.". Immunogenetics 54 (11): 747–55. doi:10.1007/s00251-002-0521-1. PMID 12618906.  
  • Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19.". Nature 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.  
  • Wang AH, Grégoire S, Zika E, et al. (2005). "Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.". J. Biol. Chem. 280 (32): 29117–27. doi:10.1074/jbc.M500295200. PMID 15964851.  
  • Krawczyk M, Masternak K, Zufferey M, et al. (2005). "New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.". Mol. Cell. Biol. 25 (19): 8607–18. doi:10.1128/MCB.25.19.8607-8618.2005. PMID 16166641.  
  • Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMID 17353931.  

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

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