| http://purl.uniprot.org/citations/38032325 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/38032325 | http://www.w3.org/2000/01/rdf-schema#comment | "In chordates, energy buffering is achieved in part through phosphocreatine, which requires cellular uptake of creatine by the membrane-embedded creatine transporter (CRT1/SLC6A8). Mutations in human slc6a8 lead to creatine transporter deficiency syndrome, for which there is only limited treatment. Here, we used a combined homology modeling, molecular dynamics, and experimental approach to generate a structural model of CRT1. Our observations support the following conclusions: contrary to previous proposals, C144, a key residue in the substrate binding site, is not present in a charged state. Similarly, the side chain D458 must be present in a protonated form to maintain the structural integrity of CRT1. Finally, we identified that the interaction chain Y148-creatine-Na+ is essential to the process of occlusion, which occurs via a "hold-and-pull" mechanism. The model should be useful to study the impact of disease-associated point mutations on the folding of CRT1 and identify approaches which correct folding-deficient mutants."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.org/dc/terms/identifier | "doi:10.1002/pro.4842"xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/author | "Freissmuth M."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/author | "Stockner T."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/author | "Clarke A."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/author | "Sucic S."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/author | "El-Kasaby A."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/author | "Szollosi D."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/author | "Farr C.V."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/date | "2024"xsd:gYear |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/name | "Protein Sci"xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/pages | "e4842"xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/title | "Probing binding and occlusion of substrate in the human creatine transporter-1 by computation and mutagenesis."xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://purl.uniprot.org/core/volume | "33"xsd:string |
| http://purl.uniprot.org/citations/38032325 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/38032325 |
| http://purl.uniprot.org/citations/38032325 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/38032325 |
| http://purl.uniprot.org/uniprot/#_P10915-mappedCitation-38032325 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/38032325 |
| http://purl.uniprot.org/uniprot/P10915 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/38032325 |