Reactome | Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol

Schema > FailedReaction > Entries

Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol Show undefined attributes

authored	[InstanceEdit:5658180] Jassal, Bijay, 2014-12-18
catalystActivity	[CatalystActivity:9631768] sodium:iodide symporter activity of SLC5A5 mutants [plasma membrane]
category	transition
compartment	[Compartment:876] plasma membrane [Compartment:984] extracellular region
created	[InstanceEdit:5658180] Jassal, Bijay, 2014-12-18
crossReference	[DatabaseIdentifier:12021012] Mondo:0018612
dbId	5658195
disease	[Disease:5658204] congenital hypothyroidism
displayName	Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol
edited	[InstanceEdit:5658180] Jassal, Bijay, 2014-12-18
entityFunctionalStatus	[EntityFunctionalStatus:5658182] loss_of_function of SLC5A5 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5619096] Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) - Homo sapiens
input	[SimpleEntity:R-ALL-209818] I- [extracellular region] [SimpleEntity:R-ALL-74113] Na+ [extracellular region]
isChimeric	false
isInDisease	true
isInferred	false
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
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol
normalReaction	[Reaction:R-HSA-429591] SLC5A5 cotransports Na+ with I- from extracellular region to cytosol
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5658195
summation	[Summation:5658189] Human SLC5A5 encodes the Na+/I- symporter NIS which is local...
updateTrackers	[UpdateTracker:9778627] Update Tracker - [FailedReaction:5658195] Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778627] Update Tracker - [FailedReaction:5658195] Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619096] Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)

Cite Us!