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Details on Person Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region

Class:Id	FailedReaction:5655733
_displayName	Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region
_doRelease	TRUE
_timestamp	2019-02-25 16:20:55
authored	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
catalystActivity	[CatalystActivity:9631763] iron ion transmembrane transporter activity of SLC40A1 mutants:CP:6xCu2+ [plasma membrane]
compartment	[Compartment:70101] cytosol [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:9632047] loss_of_function of SLC40A1 mutants:CP:6xCu2+ [plasma membrane]
input	[SimpleEntity:71067] Fe2+ [cytosol]
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: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 [LiteratureReference:5655711] Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
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 Fe2+ from cytosol to extracellular region
normalReaction	[Reaction:904830] SLC40A1:CP: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:6797165] R-HSA-5655733.3
summation	[Summation:5655753] SLC40A1 (MTP1 aka ferroportin or IREG1) is highly expressed ...
(hasEvent)	[Pathway:5619049] Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778583] Update Tracker - [FailedReaction:5655733] Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region - v68:[addCatalystActivity]
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