Property Summary

NCBI Gene PubMed Count 20
PubMed Score 15.63
PubTator Score 23.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -2.176 6.5e-05
group 4 medulloblastoma 1.300 1.1e-02
primitive neuroectodermal tumor 1.100 3.3e-04
adult high grade glioma -1.300 3.8e-04
posterior fossa group A ependymoma 1.100 5.8e-04
subependymal giant cell astrocytoma -1.293 1.7e-02
invasive ductal carcinoma -1.100 9.2e-03
ovarian cancer -1.100 2.8e-03

Gene RIF (8)

PMID Text
26337469 Data show a negative correlation between microRNA miR-212-3p and regulatory factor X-associated protein (RFXAP) in pancreatic cancer (PC) tissue.
20732328 RFXAP(C) consists of two alpha-helices that form a V-shaped structure that packs within the RFX5(N)(2) staple.
20024540 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.
19274739 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
18723135 RFXAP and RFXB have roles in relieving autoinhibition of RFX5
18336911 The transcriptional silent state of RFXAP correlated with reduced recruitment of RNA polymerase II to RFXAP chromatin in the MHC-II deficiency patient.
16337482 Only the C-terminal half of the protein is conserved among vertebrates. The C-terminal third of RFXAP, with an extensive glutamine-rich tract, could rescue HLA-DR, but not HLA-DQ or HLA-DP expression in a bare lymphocyte syndrome cell line.
15210800 The identification of nuclear import and export sites on RFX molecules provides potential targets to modulate MHC class II expression.

AA Sequence

MEAQGVAEGAGPGAASGVPHPAALAPAAAPTLAPASVAAAASQFTLLVMQPCAGQDEAAAPGGSVGAGKP      1 - 70
VRYLCEGAGDGEEEAGEDEADLLDTSDPPGGGESAASLEDLEDEETHSGGEGSSGGARRRGSGGGSMSKT     71 - 140
CTYEGCSETTSQVAKQRKPWMCKKHRNKMYKDKYKKKKSDQALNCGGTASTGSAGNVKLEESADNILSIV    141 - 210
KQRTGSFGDRPARPTLLEQVLNQKRLSLLRSPEVVQFLQKQQQLLNQQVLEQRQQQFPGTSM            211 - 272
//

Text Mined References (23)

PMID Year Title
26337469 2015 Pancreatic cancer-derived exosomes transfer miRNAs to dendritic cells and inhibit RFXAP expression via miR-212-3p.
20732328 2010 Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.
20024540 2010 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.
19274739 2009 Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP.
18723135 2008 Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.
18336911 2008 Transcriptional silencing of RFXAP in MHC class II-deficiency.
16337482 2006 Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression.
15781111 2005 Multiple interactions between BRG1 and MHC class II promoter binding proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15210800 2004 A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12136098 2002 NotI flanking sequences: a tool for gene discovery and verification of the human genome.
11463838 2001 Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome.
11244040 2001 The bare lymphocyte syndrome and the regulation of MHC expression.
10825209 2000 Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.
10072068 1999 RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.
9806639 1998 The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes.
9287230 1997 Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.
9118943 1997 RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.
8717517 1996 Regulation of MHC class II genes: lessons from a disease.
8290561 1994 Function of major histocompatibility complex class II promoters requires cooperative binding between factors RFX and NF-Y.