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Details on Person Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol
| Class:Id | FailedReaction:5658195 |
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| _displayName | Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol |
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| _doRelease | TRUE |
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| _timestamp | 2015-09-04 20:50:57 |
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| authored | [InstanceEdit:5658180] Jassal, Bijay, 2014-12-18 |
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| catalystActivity | [CatalystActivity:9631768] sodium:iodide symporter activity of SLC5A5 mutants [plasma membrane] |
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| compartment | [Compartment:876] plasma membrane
[Compartment:984] extracellular region |
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| created | [InstanceEdit:5658180] Jassal, Bijay, 2014-12-18 |
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| disease | [Disease:5658204] congenital hypothyroidism |
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| edited | [InstanceEdit:5658180] Jassal, Bijay, 2014-12-18 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5658182] loss_of_function of SLC5A5 mutants [plasma membrane] |
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| input | [SimpleEntity:209818] I- [extracellular region]
[SimpleEntity:74113] Na+ [extracellular region] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:6793495] Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene
[LiteratureReference:6793478] Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients
[LiteratureReference:6793483] A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect
[LiteratureReference:429577] Congenital hypothyroidism caused by a mutation in the Na+/I- symporter |
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| modified | [InstanceEdit:5663019] Jassal, Bijay, 2015-01-14
[InstanceEdit:6789777] Jassal, Bijay, 2015-08-04
[InstanceEdit:6793492] Jassal, Bijay, 2015-09-01
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol |
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| normalReaction |
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| releaseDate | 2015-09-22 |
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| releaseStatus | NEW |
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| reviewed | [InstanceEdit:6789776] Broer, Stefan, 2015-08-04 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:6797171] R-HSA-5658195.3 |
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| summation | [Summation:5658189] Human SLC5A5 encodes the Na+/I- symporter NIS which is local... |
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| (hasEvent) | [Pathway:5619096] Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778627] Update Tracker - [FailedReaction:5658195] Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol - v68:[addCatalystActivity] |
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