| http://purl.uniprot.org/citations/27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27479139 | http://www.w3.org/2000/01/rdf-schema#comment | "Deficiency of methylthioadenosine phosphorylase (MTAP) supports melanoma development and progression through accumulation of its substrate 5'-methylthioadenosine (MTA), which leads amongst others to a constitutive inhibition of protein arginine methyltransferases (PRMTs) and activation of the transcription factor AP-1 via the receptor ADORA2B. Genetic association studies have also suggested that genetic polymorphism in MTAP may modulate the risk of melanoma. Here, we investigated the only globally common non-synonymous single nucleotide polymorphism (SNP) reported to date for MTAP. The SNP rs7023954 is located in exon 3 (c.166G>A), and leads to the conservative substitution of one branched-chain amino acid residue (valine) for another (isoleucine) at position 56 (p.Val56Ile). Whereas genotype frequencies in normal and primary melanoma tissues or cell lines were in Hardy-Weinberg equilibrium based on cDNA amplicon sequencing, a marked (P = 0.00019) deviation was observed in metastatic melanoma tissues and cell lines due to a deficit of heterozygotes. Enzyme assays conducted on the co-dominantly expressed alleles revealed no difference in the conversion rate of MTA to adenine and 5-methylthioribose-1-phosphate, indicating that this known enzymatic activity does not modulate the tumor suppressive function of MTAP."xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pone.0160348"xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/author | "Oefner P.J."xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/author | "Reinders J."xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/author | "Bosserhoff A.K."xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/author | "Dettmer K."xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/author | "Limm K."xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/name | "PLoS One"xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/pages | "e0160348"xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/title | "Characterization of the Methylthioadenosine Phosphorylase Polymorphism rs7023954 - Incidence and Effects on Enzymatic Function in Malignant Melanoma."xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://purl.uniprot.org/core/volume | "11"xsd:string |
| http://purl.uniprot.org/citations/27479139 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27479139 |
| http://purl.uniprot.org/citations/27479139 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/27479139 |
| http://purl.uniprot.org/uniprot/#_A0A384ME80-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |
| http://purl.uniprot.org/uniprot/#_B4DUC8-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |
| http://purl.uniprot.org/uniprot/#_Q13126-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |
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| http://purl.uniprot.org/uniprot/#_Q6FHP1-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |
| http://purl.uniprot.org/uniprot/#_Q6FHT1-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |
| http://purl.uniprot.org/uniprot/#_Q8WV80-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |
| http://purl.uniprot.org/uniprot/#_Q60F91-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |
| http://purl.uniprot.org/uniprot/#_Q9NRK7-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |
| http://purl.uniprot.org/uniprot/#_Q8NI75-mappedCitation-27479139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27479139 |