| http://purl.uniprot.org/citations/9806546 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9806546 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9806546 | http://www.w3.org/2000/01/rdf-schema#comment | "Major histocompatibility class II (MHC-II) molecules are transmembrane proteins that have a central role in development and control of the immune system. They are encoded by a multigene family and their expression is tightly regulated. MHC-II deficiency (OMIM 209920) is an autosomal recessive immunodeficiency syndrome resulting from defects in trans-acting factors essential for transcription of MHC-II genes. There are four genetic complementation groups (A, B, C and D), reflecting the existence of four MHC-II regulators. The factors defective in groups A (CIITA), C (RFX5) and D (RFXAP) have been identified. CIITA is a non-DNA-binding co-activator that controls the cell-type specificity and inducibility of MHC-II expression. RFX5 and RFXAP are two subunits of RFX, a multi-protein complex that binds the X box motif of MHC-II promoters. Mutations in the genes encoding RFX5 (RFX5) or RFXAP (RFXAP) abolish binding of RFX (refs 7,8,12). Similar to groups C and D, group B is characterized by a defect in RFX binding, and although it accounts for the majority of patients, the factor defective in group B has remained unknown. We report here the isolation of RFX by a novel single-step DNA-affinity purification approach and the identification of RFXANK, the gene encoding a third subunit of RFX. RFXANK restores MHC-II expression in cell lines from patients in group B and is mutated in these patients. RFXANK contains a protein-protein interaction region consisting of three ankyrin repeats. Its interaction with RFX5 and RFXAP is essential for binding of the RFX complex to MHC-II promoters."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.org/dc/terms/identifier | "doi:10.1038/3081"xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.org/dc/terms/identifier | "doi:10.1038/3081"xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Aebersold R."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Aebersold R."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Hochstrasser D.F."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Hochstrasser D.F."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Sanchez J.-C."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Sanchez J.-C."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Reith W."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Reith W."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Corthals G."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Corthals G."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Zufferey M."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Zufferey M."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Mach B."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Mach B."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Conrad B."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Conrad B."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Barras E."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Barras E."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Masternak K."xsd:string |
| http://purl.uniprot.org/citations/9806546 | http://purl.uniprot.org/core/author | "Masternak K."xsd:string |