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Regulatory factor X-associated protein

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 ankyrin-containing 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. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: MHC, RFX5, RFX, CIITA, BLS
Papers on RFXAP
Pancreatic cancer-derived exosomes transfer miRNAs to dendritic cells and inhibit RFXAP expression via miR-212-3p.
Cao et al., Hangzhou, China. In Oncotarget, Nov 2015
From the target prediction, it was predicted and validated that regulatory factor X-associated protein (RFXAP), an important transcription factor for MHC II, was inhibited by miR-212-3p transferred from PC-secreted exosomes, resulting in decreased MHC II expression.
Kaposi's Sarcoma-Associated Herpesvirus Latency-Associated Nuclear Antigen Inhibits Major Histocompatibility Complex Class II Expression by Disrupting Enhanceosome Assembly through Binding with the Regulatory Factor X Complex.
Verma et al., Reno, United States. In J Virol, May 2015
Our data show that LANA is capable of binding to all three components of the RFX complex, RFX-associated protein (RFXAP), RFX5, and RFX-associated ankyrin-containing protein (RFXANK), in vivo but binds more strongly with the RFXAP component in in vitro binding assays.
NLRC5 exclusively transactivates MHC class I and related genes through a distinctive SXY module.
Guarda et al., Lausanne, Switzerland. In Plos Genet, Mar 2015
Analysis of B cell lines lacking RFX5, RFXAP, or RFXANK further corroborated the importance of the enhanceosome for MHCI expression.
Association of high CD4-positive T cell infiltration with mutations in HLA class II-regulatory genes in microsatellite-unstable colorectal cancer.
Kloor et al., Heidelberg, Germany. In Cancer Immunol Immunother, Mar 2015
Mutations in RFX5, CIITA, and RFXAP were found in 13 (28.9%), 3 (6.7%),
MHC class I and II deficiencies.
Etzioni et al., Haifa, Israel. In J Allergy Clin Immunol, 2014
These transacting factors are the class II transactivator and 3 subunits of regulatory factor X (RFX): RFX containing ankyrin repeats (RFXANK), the fifth member of the RFX family (RFX5), and RFX-associated protein (RFXAP).
Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report.
Reisli et al., Konya, Turkey. In Int J Immunogenet, 2012
Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.
NLRC5 cooperates with the RFX transcription factor complex to induce MHC class I gene expression.
Kobayashi et al., Boston, United States. In J Immunol, 2012
The transcription factors RFX5, RFXAP, and RFXANK/B, which compose the RFX protein complex and associate with the X1 box, cooperate with NLRC5 for MHC class I expression.
Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency.
Ghaffor et al., Algiers, Algeria. In Allergy Asthma Clin Immunol, 2011
MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP.
Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.
Garvie et al., Baltimore, United States. In J Mol Biol, 2010
RFXAP(C) consists of two alpha-helices that form a V-shaped structure that packs within the RFX5(N)(2) staple.
Coordinate loss of MHC class II expression in the diffuse large B cell lymphoma cell line OCI-Ly2 is due to a novel mutation in RFX-AP.
Murphy et al., Rochester, United States. In Immunogenetics, 2010
Study demonstrates that coordinate loss of MHCII expression in OCI-Ly2 DLBCL cells is associated with an 11-base deletion in the cDNA encoding RFX-AP, that is required for activating MHCII transcription.
Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP.
Garvie et al., Cambridge, United States. In Proteins, 2009
the interaction between RFX5 and RFXAP promote folding of a poorly structured region ofRFXAP, which is required for high affinity binding of RFXB to the RFX5.RFXAP complex
Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.
Boss et al., Baltimore, United States. In Biochim Biophys Acta, 2008
RFXAP and RFXB have roles in relieving autoinhibition of RFX5
Transcriptional silencing of RFXAP in MHC class II-deficiency.
van den Elsen et al., Leiden, Netherlands. In Mol Immunol, 2008
The transcriptional silent state of RFXAP correlated with reduced recruitment of RNA polymerase II to RFXAP chromatin in the MHC-II deficiency patient.
The bare lymphocyte syndrome and the regulation of MHC expression.
Mach et al., Genève, Switzerland. In Annu Rev Immunol, 2000
The affected genes encode RFXANK, RFX5, RFXAP, and CIITA, four regulatory factors that are highly specific and essential for MHCII genes.
Lessons from the bare lymphocyte syndrome: molecular mechanisms regulating MHC class II expression.
Reith et al., Genève, Switzerland. In Immunol Rev, 2000
These genes encode RFXANK, RFXS, RFXAP and CIITA.
Molecular genetics of the Bare lymphocyte syndrome.
Reith et al., Genève, Switzerland. In Rev Immunogenet, 1999
These genes encode CIITA, RFXANK, RFX5 and RFXAP.
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.
Reith et al., Genève, Switzerland. In Nat Genet, 1998
The factors defective in groups A (CIITA), C (RFX5) and D (RFXAP) have been identified.
The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes.
van den Elsen et al., Leiden, Netherlands. In Immunity, 1998
Using type III BLS cell lines, we demonstrate that the RFX subunits RFX5 and RFXAP are crucial for constitutive and CIITA-induced MHC class I and beta2m transactivation.
MHC class II deficiency: definition of a new complementation group.
Reith et al., Genève, Switzerland. In Immunobiology, 1997
resides in the recently cloned RFXAP gene.
Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.
Mach et al., Genève, Switzerland. In N Engl J Med, 1997
METHODS: To elucidate the genetic defect in patients with MHC class II deficiency that was not classified genetically, we performed direct complementation assays with the three genes known to regulate the expression of MHC class II genes, CIITA, RFX5, and RFXAP, and the relevant mutations were identified in each patient.
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