{"id":"42c691d5-1faf-57a8-b1d2-200f494ec05a","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-trans-a7-q500-localization","predicate":"impairs","statement":"Human SLC26A7 Q500Ter expressed in MDCK cells aggregated in the cytosol instead of showing the predominant surface localization of wild-type protein.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"99f16637-ef1d-56cb-9592-e3378b0bc60c","mechanism_event_label":"This truncation prevents normal transporter placement.","subject":{"id":"d9c5391d-0dc9-5e17-9a41-1fdb2b77292c","slug":"slc26a7-q500ter","display_name":"Human SLC26A7 p.Gln500Ter","entity_type_key":"protein_state"},"object":{"id":"7030918c-61b8-5d1c-9134-25f355f2bedb","slug":"slc26a7-membrane-localization","display_name":"SLC26A7 membrane localization","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"99f16637-ef1d-56cb-9592-e3378b0bc60c","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-trans-a7-q500-localization-event","event_type":"biochemical_relationship","label":"This truncation prevents normal transporter placement.","description":"Human SLC26A7 Q500Ter expressed in MDCK cells aggregated in the cytosol instead of showing the predominant surface localization of wild-type protein.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"6ae2ac42-e051-59b1-aabb-f8263f987ea4","slug":"slc26a7","display_name":"Human SLC26A7 anion transporter","entity_type_key":"protein"},"role":"wild_type_reference","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"d9c5391d-0dc9-5e17-9a41-1fdb2b77292c","slug":"slc26a7-q500ter","display_name":"Human SLC26A7 p.Gln500Ter","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"7030918c-61b8-5d1c-9134-25f355f2bedb","slug":"slc26a7-membrane-localization","display_name":"SLC26A7 membrane localization","entity_type_key":"cellular_process"},"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 thyroid tissue; recombinant human SLC26A7 in Nthy, MDCK, COS-7 and HEK293T cells; two affected siblings","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"FLAG-tagged wild-type versus Q500Ter expression; immunofluorescence Fig. 5.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Tagged heterologous expression; localization and current loss are separate observations.","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 canine MDCK cells","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"This truncation prevents normal transporter placement.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[iodine-trans-slc26a7-2019] Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. (2019). https://pubmed.ncbi.nlm.nih.gov/31372509/ DOI: 10.1038/s42003-019-0503-6","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Cell surface and cytosol","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":"819e8c0e-a470-5a77-8791-4b7817547201","evidence_kind":"source_excerpt","locator":"Lines 349-360","start_line":349,"end_line":360,"excerpt":"### iodine-trans-a7-q500-localization\nHuman SLC26A7 Q500Ter expressed in MDCK cells aggregated in the cytosol instead of showing the predominant surface localization of wild-type protein.\nCondition category: machinery_impairment\nnutrient_topic: Iodine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: This truncation prevents normal transporter placement.\norganism: Human protein in canine MDCK cells\ntissue_or_cell_type: Cell surface and cytosol\nexperimental_model: Human thyroid tissue; recombinant human SLC26A7 in Nthy, MDCK, COS-7 and HEK293T cells; two affected siblings\nlimitations: Tagged heterologous expression; localization and current loss are separate observations.\nexposure: FLAG-tagged wild-type versus Q500Ter expression; immunofluorescence Fig. 5.\ncross_nutrient: false\n[iodine-trans-slc26a7-2019] Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. (2019). https://pubmed.ncbi.nlm.nih.gov/31372509/ DOI: 10.1038/s42003-019-0503-6","model_system":"Human thyroid tissue; recombinant human SLC26A7 in Nthy, MDCK, COS-7 and HEK293T cells; two affected siblings","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [iodine-trans-slc26a7-2019] Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. (2019). https://pubmed.ncbi.nlm.nih.gov/31372509/ DOI: 10.1038/s42003-019-0503-6","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. Not publisher full text.","file_path":"","sha256":"a4885eb6f58bad4a4514c958b63834619e57b10aa7f694aa97d0f65c7d36548f","revision_id":"ea8001a1-b576-5eda-a193-883c7ad59b73","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}