Reactome | Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region

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Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region Show undefined attributes

authored	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
catalystActivity	[CatalystActivity:9631763] iron ion transmembrane transporter activity of SLC40A1 mutants:CP:6xCu2+ [plasma membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:876] plasma membrane
created	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
dbId	5655733
disease	[Disease:5655767] hemochromatosis
displayName	Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region
edited	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
entityFunctionalStatus	[EntityFunctionalStatus:9632047] loss_of_function of SLC40A1 mutants:CP:6xCu2+ [plasma membrane]
eventOf	[Pathway:R-HSA-5619049] Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) - Homo sapiens
input	[SimpleEntity:R-ALL-71067] Fe2+ [cytosol]
isChimeric	false
isInDisease	true
isInferred	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:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region
normalReaction	[Reaction:R-HSA-904830] SLC40A1:CP:6Cu2+ transports Fe2+ from cytosol to extracellular region
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-5655733
summation	[Summation:5655753] SLC40A1 (MTP1 aka ferroportin or IREG1) is highly expressed ...

Referrals

(hasEvent)

[Pathway:R-HSA-5619049] Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)

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