Biology:RFXANK

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.

Function

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.

Interactions

RFXANK has been shown to interact with RFXAP and CIITA.

Further reading

• "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. Sep 1996. doi:10.1101/gr.6.9.791. PMID 8889548. 
• "The ankyrin repeat-containing adaptor protein Tvl-1 is a novel substrate and regulator of Raf-1". The Journal of Biological Chemistry 274 (21): 14706–15. May 1999. doi:10.1074/jbc.274.21.14706. PMID 10329666. 
• "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". Journal of Immunology 164 (7): 3666–74. Apr 2000. doi:10.4049/jimmunol.164.7.3666. PMID 10725724. 
• "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. Apr 2000. doi:10.1007/s002510050619. PMID 10803838. 
• "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Molecular and Cellular Biology 20 (12): 4455–61. Jun 2000. doi:10.1128/MCB.20.12.4455-4461.2000. PMID 10825209. 
• "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Research 10 (10): 1546–60. Oct 2000. doi:10.1101/gr.140200. PMID 11042152. 
• "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Molecular and Cellular Biology 21 (16): 5566–76. Aug 2001. doi:10.1128/MCB.21.16.5566-5576.2001. PMID 11463838. 
• "RFX-B, a MHC class II transcription factor, suppressed in human colorectal adenocarcinomas". International Journal of Molecular Medicine 9 (3): 213–6. Mar 2002. doi:10.3892/ijmm.9.3.213. PMID 11836625. 
• "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. Feb 2003. doi:10.1007/s00251-002-0521-1. PMID 12618906. 
• "Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases". The Journal of Biological Chemistry 280 (32): 29117–27. Aug 2005. doi:10.1074/jbc.M500295200. PMID 15964851. 
• "New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study". Molecular and Cellular Biology 25 (19): 8607–18. Oct 2005. doi:10.1128/MCB.25.19.8607-8618.2005. PMID 16166641. 
• "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931. 

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