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Details on Person Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol

Class:Id	FailedReaction:5655760
_displayName	Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol
_doRelease	TRUE
_timestamp	2019-02-25 16:21:01
authored	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
catalystActivity	[CatalystActivity:9631973] ferrous iron transmembrane transporter activity of HEPH:6xCu2+:SLC40A1 mutants [plasma membrane]
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
disease	[Disease:5655767] hemochromatosis
edited	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
entityFunctionalStatus	[EntityFunctionalStatus:5655756] loss_of_function of HEPH:6xCu2+:SLC40A1 mutants [plasma membrane]
input	[SimpleEntity:912516] Fe3+ [extracellular region]
isChimeric	FALSE
literatureReference	[LiteratureReference:5655798] A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis [LiteratureReference:5655764] Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent [LiteratureReference:5655711] Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis [LiteratureReference:5655795] Genetic and clinical heterogeneity of ferroportin disease [LiteratureReference:5655734] Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
modified	[InstanceEdit:5663019] Jassal, Bijay, 2015-01-14 [InstanceEdit:6789777] Jassal, Bijay, 2015-08-04 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9632046] Jassal, Bijay, 2018-12-13 [InstanceEdit:9638085] Jassal, Bijay, 2019-02-25 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol
normalReaction	[Reaction:442368] SLC40A1:HEPH:6Cu2+ transports Fe2+ from cytosol to extracellular region [Homo sapiens]
releaseDate	2015-09-22
releaseStatus	NEW
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:6797166] R-HSA-5655760.3
summation	[Summation:5655814] The primary site for absorption of dietary iron is the duode...
(hasEvent)	[Pathway:5655799] Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9777974] Update Tracker - [FailedReaction:5655760] Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol - v68:[addCatalystActivity]
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