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http://purl.uniprot.org/citations/26221972http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26221972http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26221972http://www.w3.org/2000/01/rdf-schema#comment"Signalling lymphocyte activation molecule (SLAM) family members regulate activation and inhibition in the innate and adaptive immune systems. Genome-wide association studies identified their genetic locus (1q23) as highly polymorphic and associated with susceptibility to systemic lupus erythematosus (SLE). Here we show that the Val602 variant of the non-synonymous single nucleotide polymorphism (SNP) rs509749 in the SLAM family member CD229 (Ly9, SLAMF3) has a two-fold lower affinity compared with the SLE-associated Met602 variant for the small adaptor protein SAP. Comparison of the two variants in T-cell lines revealed the Val602 variant to be significantly more highly expressed than CD229 Met602 . Activation was diminished in cells expressing CD229 Val602 compared with CD229 Met602 as measured by up-regulation of CD69. There was no correlation between homozygosity at rs509749 and activation in peripheral blood mononuclear cells from healthy donors. These findings identify potential mechanisms by which a single SNP can perturb fine-tuning in the immune system with significant functional consequences."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.org/dc/terms/identifier"doi:10.1111/imm.12513"xsd:string
http://purl.uniprot.org/citations/26221972http://purl.org/dc/terms/identifier"doi:10.1111/imm.12513"xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/author"Brown M.H."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/author"Brown M.H."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/author"Garner L.I."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/author"Garner L.I."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/author"Margraf S."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/author"Margraf S."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/author"Wilson T.J."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/author"Wilson T.J."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/name"Immunology"xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/name"Immunology"xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/pages"392-400"xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/pages"392-400"xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/title"A polymorphism in a phosphotyrosine signalling motif of CD229 (Ly9, SLAMF3) alters SH2 domain binding and T-cell activation."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/title"A polymorphism in a phosphotyrosine signalling motif of CD229 (Ly9, SLAMF3) alters SH2 domain binding and T-cell activation."xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/volume"146"xsd:string
http://purl.uniprot.org/citations/26221972http://purl.uniprot.org/core/volume"146"xsd:string
http://purl.uniprot.org/citations/26221972http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/26221972
http://purl.uniprot.org/citations/26221972http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/26221972