{"id":"451215ee-d21d-54ad-8072-36c9d2955d02","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-trans-t354p-uptake","predicate":"impairs","statement":"Human NIS T354P expressed in COS-7 cells showed markedly reduced iodide uptake compared with normal NIS.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"4c5c155d-df8e-5714-a3e0-6c7d4d124a13","mechanism_event_label":"A defective NIS protein can limit uptake even when iodide is present.","subject":{"id":"0999dc0b-8fd0-588c-a5c6-43a722bece43","slug":"slc5a5-t354p","display_name":"Human NIS p.Thr354Pro","entity_type_key":"protein_state"},"object":{"id":"759b6f24-098d-5b19-b891-a5ad49fade50","slug":"cellular-iodide-uptake","display_name":"Cellular iodide uptake","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"4c5c155d-df8e-5714-a3e0-6c7d4d124a13","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-trans-t354p-uptake-event","event_type":"biochemical_relationship","label":"A defective NIS protein can limit uptake even when iodide is present.","description":"Human NIS T354P expressed in COS-7 cells showed markedly reduced iodide uptake compared with normal NIS.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"83b11ca6-52c7-5a1b-8c39-d9cdf89244e3","slug":"iodide","display_name":"Iodide ion","entity_type_key":"ion"},"role":"transported_substrate","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"0d051c22-c0d2-5c22-91ad-4ee6894dc7a0","slug":"slc5a5","display_name":"Human sodium/iodide symporter / SLC5A5","entity_type_key":"protein"},"role":"wild_type_reference","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"0999dc0b-8fd0-588c-a5c6-43a722bece43","slug":"slc5a5-t354p","display_name":"Human NIS p.Thr354Pro","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"759b6f24-098d-5b19-b891-a5ad49fade50","slug":"cellular-iodide-uptake","display_name":"Cellular iodide uptake","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":3,"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 iodide-transport-defect patient and expression of patient-derived NIS in COS-7 cells","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Patient-derived T354P cDNA expression; uptake concentration not provided in abstract.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"The reported patient had goiter and defective accumulation but was essentially euthyroid; do not turn this case into universal hypothyroidism severity.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Iodine research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"iodine","display_name":"Iodine","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human protein in African green monkey cells","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A defective NIS protein can limit uptake even when iodide is present.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[iodine-trans-t354p1997] A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. (1997). https://pubmed.ncbi.nlm.nih.gov/9398697/ DOI: 10.1210/jcem.82.12.4425","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"COS-7 plasma membrane","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":"b23ae15a-18e0-55c7-ac91-6b3802abad7f","evidence_kind":"source_excerpt","locator":"Lines 232-243","start_line":232,"end_line":243,"excerpt":"### iodine-trans-t354p-uptake\nHuman NIS T354P expressed in COS-7 cells showed markedly reduced iodide uptake compared with normal NIS.\nCondition category: machinery_impairment\nnutrient_topic: Iodine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A defective NIS protein can limit uptake even when iodide is present.\norganism: Human protein in African green monkey cells\ntissue_or_cell_type: COS-7 plasma membrane\nexperimental_model: Human iodide-transport-defect patient and expression of patient-derived NIS in COS-7 cells\nlimitations: The reported patient had goiter and defective accumulation but was essentially euthyroid; do not turn this case into universal hypothyroidism severity.\nexposure: Patient-derived T354P cDNA expression; uptake concentration not provided in abstract.\ncross_nutrient: false\n[iodine-trans-t354p1997] A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. (1997). https://pubmed.ncbi.nlm.nih.gov/9398697/ DOI: 10.1210/jcem.82.12.4425","model_system":"Human iodide-transport-defect patient and expression of patient-derived NIS in COS-7 cells","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [iodine-trans-t354p1997] A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. (1997). https://pubmed.ncbi.nlm.nih.gov/9398697/ DOI: 10.1210/jcem.82.12.4425","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"76da623d-a34a-5a5c-a942-d7571a85c486","stable_key":"import-aaa7baba-8689-56ab-ba1e-b71542bcb8e9","title":"Iodine: thyroid hormone production, deficiency, excess 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. 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