{"id":"79e3ba60-d78f-5b85-b9cc-44fda2173441","stable_key":"195e8b84-ca5a-591a-a045-c55c53c8a01c:sodium-sglt1-loss","predicate":"disease_variant_impairs","statement":"The familial SGLT1 missense variant abolished sodium-dependent glucose transport in injected oocytes.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"07fd7a4f-ff98-56e2-b2a8-1d17bebb46cf","mechanism_event_label":"The transport protein itself can be the limiting step.","subject":{"id":"81db77cc-b909-593a-923e-4e52841491aa","slug":"slc5a1","display_name":"Human sodium/glucose cotransporter SGLT1 / SLC5A1","entity_type_key":"protein"},"object":{"id":"395f6df0-ffb7-5051-8211-157f3a2e5baf","slug":"intestinal-glucose-uptake","display_name":"Intestinal epithelial glucose uptake","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"07fd7a4f-ff98-56e2-b2a8-1d17bebb46cf","stable_key":"195e8b84-ca5a-591a-a045-c55c53c8a01c:sodium-sglt1-loss-event","event_type":"biochemical_relationship","label":"The transport protein itself can be the limiting step.","description":"The familial SGLT1 missense variant abolished sodium-dependent glucose transport in injected oocytes.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"38de8704-84db-5770-ac1d-242cd787e798","slug":"sodium-ion","display_name":"Sodium ion","entity_type_key":"ion"},"role":"coupling_ion","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"8ae7848b-f172-5e09-8acf-5ca914907b0b","slug":"glucose","display_name":"D-glucose","entity_type_key":"small_molecule"},"role":"substrate","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"81db77cc-b909-593a-923e-4e52841491aa","slug":"slc5a1","display_name":"Human sodium/glucose cotransporter SGLT1 / SLC5A1","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"395f6df0-ffb7-5051-8211-157f3a2e5baf","slug":"intestinal-glucose-uptake","display_name":"Intestinal epithelial glucose 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":"evidence_span","value_text":"{\"source_cache\": \"artifacts/sodium-research/2008213.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"ba4e32dc5111895acfe9e109cf57a7e07bc3c4e07e82ad3b4f7715cfaf10af74\", \"start_char\": 0, \"end_char\": 1357, \"text_sha256\": \"ba4e32dc5111895acfe9e109cf57a7e07bc3c4e07e82ad3b4f7715cfaf10af74\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Family segregation and Xenopus oocyte transport assay","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Disease-associated SGLT1 missense variant versus normal transporter","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"A genetic transporter defect is not sodium dietary deficiency; the sugar-malabsorption phenotype must not be presented as a reason to add salt.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Sodium research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"sodium","display_name":"Sodium","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human SGLT1 expressed in frog oocytes","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The transport protein itself can be the limiting step.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[sodium-p2008213] Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. (1991). https://pubmed.ncbi.nlm.nih.gov/2008213/ DOI: 10.1038/350354a0","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Intestinal brush border","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":"c083b50c-3fe5-5001-bd60-a6a8be7c9c2f","evidence_kind":"source_excerpt","locator":"Lines 304-315","start_line":304,"end_line":315,"excerpt":"### sodium-sglt1-loss\nThe familial SGLT1 missense variant abolished sodium-dependent glucose transport in injected oocytes.\nCondition category: machinery_impairment\nnutrient_topic: Sodium research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The transport protein itself can be the limiting step.\norganism: Human SGLT1 expressed in frog oocytes\ntissue_or_cell_type: Intestinal brush border\nexperimental_model: Family segregation and Xenopus oocyte transport assay\nlimitations: A genetic transporter defect is not sodium dietary deficiency; the sugar-malabsorption phenotype must not be presented as a reason to add salt.\nexposure: Disease-associated SGLT1 missense variant versus normal transporter\nevidence_span: {\"source_cache\": \"artifacts/sodium-research/2008213.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"ba4e32dc5111895acfe9e109cf57a7e07bc3c4e07e82ad3b4f7715cfaf10af74\", \"start_char\": 0, \"end_char\": 1357, \"text_sha256\": \"ba4e32dc5111895acfe9e109cf57a7e07bc3c4e07e82ad3b4f7715cfaf10af74\"}\n[sodium-p2008213] Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. (1991). https://pubmed.ncbi.nlm.nih.gov/2008213/ DOI: 10.1038/350354a0","model_system":"Family segregation and Xenopus oocyte transport assay","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [sodium-p2008213] Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. (1991). https://pubmed.ncbi.nlm.nih.gov/2008213/ DOI: 10.1038/350354a0","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"c260cd7b-beb0-5113-a198-69ec8fd4492c","stable_key":"import-195e8b84-ca5a-591a-a045-c55c53c8a01c","title":"Sodium: gradients, nutrient transport, fluid regulation and loss states (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":"684f65cf0661c18395831ade4b02bb24d5e66c568f0d00a3471600eaf5d4d1c6","revision_id":"39866f04-3052-5f59-bd95-6806c5490875","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}