{"id":"ac3fe476-fdf3-5b54-832f-1819c8d8c0ec","stable_key":"f992b796-377d-53bf-a39b-7e5d41dbe194:b5-trans-r123l-er-retention","predicate":"is_retained_in","statement":"Human SLC5A6 R123L-GFP was predominantly retained in the endoplasmic reticulum; ER-marker colocalization supported this localization.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"c418e525-061a-5fca-b724-9d387c662e94","mechanism_event_label":"The R123L transporter is largely trapped inside the cell instead of reaching its working surface.","subject":{"id":"255752f0-a43a-5b14-826f-0ec80737e906","slug":"slc5a6-r123l","display_name":"Human SLC5A6 R123L protein variant","entity_type_key":"protein_state"},"object":{"id":"ea69f7d2-43d8-5b62-8ed6-60d6ad580813","slug":"endoplasmic-reticulum","display_name":"Endoplasmic reticulum","entity_type_key":"organelle"},"evidence_count":1,"mechanism_event":{"id":"c418e525-061a-5fca-b724-9d387c662e94","stable_key":"f992b796-377d-53bf-a39b-7e5d41dbe194:b5-trans-r123l-er-retention-event","event_type":"biochemical_relationship","label":"The R123L transporter is largely trapped inside the cell instead of reaching its working surface.","description":"Human SLC5A6 R123L-GFP was predominantly retained in the endoplasmic reticulum; ER-marker colocalization supported this localization.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"3bd59e38-e6b1-5223-b4de-faa33835f5bc","slug":"slc5a6","display_name":"Human sodium-dependent multivitamin transporter / SLC5A6","entity_type_key":"protein"},"role":"wild_type_comparator","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"255752f0-a43a-5b14-826f-0ec80737e906","slug":"slc5a6-r123l","display_name":"Human SLC5A6 R123L protein variant","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"ea69f7d2-43d8-5b62-8ed6-60d6ad580813","slug":"endoplasmic-reticulum","display_name":"Endoplasmic reticulum","entity_type_key":"organelle"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"cross_nutrient","value_text":"false","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human intestinal HuTu-80 and brain-derived U87 cell transfection and live-cell imaging of patient-derived SLC5A6 variants","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Live-cell confocal imaging 48 hours after transfection; hSMVT-GFP versus R123L-GFP and DsRed-ER.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Some mutant signal remained at the cell surface. Fluorescent-fusion localization does not prove zero residual activity or a dietary treatment response.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Pantothenic acid (vitamin B5) research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"pantothenate","display_name":"Pantothenate (vitamin B5)","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The R123L transporter is largely trapped inside the cell instead of reaching its working surface.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[b5-trans-slc5a6-variants2017] Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. (2017). https://pubmed.ncbi.nlm.nih.gov/27904971/ DOI: 10.1007/s00439-016-1751-x","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"HuTu-80 and U87 cells; ER-marker colocalization shown in HuTu-80","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"c7e7c698-4067-5f22-942e-9b8b11de472d","evidence_kind":"source_excerpt","locator":"Lines 366-377","start_line":366,"end_line":377,"excerpt":"### b5-trans-r123l-er-retention\nHuman SLC5A6 R123L-GFP was predominantly retained in the endoplasmic reticulum; ER-marker colocalization supported this localization.\nCondition category: machinery_impairment\nnutrient_topic: Pantothenic acid (vitamin B5) research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The R123L transporter is largely trapped inside the cell instead of reaching its working surface.\norganism: Homo sapiens\ntissue_or_cell_type: HuTu-80 and U87 cells; ER-marker colocalization shown in HuTu-80\nexperimental_model: Human intestinal HuTu-80 and brain-derived U87 cell transfection and live-cell imaging of patient-derived SLC5A6 variants\nlimitations: Some mutant signal remained at the cell surface. Fluorescent-fusion localization does not prove zero residual activity or a dietary treatment response.\nexposure: Live-cell confocal imaging 48 hours after transfection; hSMVT-GFP versus R123L-GFP and DsRed-ER.\ncross_nutrient: false\n[b5-trans-slc5a6-variants2017] Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. (2017). https://pubmed.ncbi.nlm.nih.gov/27904971/ DOI: 10.1007/s00439-016-1751-x","model_system":"Human intestinal HuTu-80 and brain-derived U87 cell transfection and live-cell imaging of patient-derived SLC5A6 variants","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [b5-trans-slc5a6-variants2017] Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. (2017). https://pubmed.ncbi.nlm.nih.gov/27904971/ DOI: 10.1007/s00439-016-1751-x","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"0716b500-dd0b-5425-b9d0-d88bc9c09e86","stable_key":"import-f992b796-377d-53bf-a39b-7e5d41dbe194","title":"Pantothenic acid (vitamin B5): coenzyme A, deficiency and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"b5a49f5a2373ca6064c9a4e014e052dad2f6f199a82bb09b26b82b831c36110b","revision_id":"78f3e793-f084-5ee2-8703-b661c4b650bf","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}