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HEPH [plasma membrane]
Stable Identifier
R-HSA-904820
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Hephaestin, HEPH_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) (Homo sapiens)
Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol (Homo sapiens)
HEPH:6xCu2+:SLC40A1 mutants [plasma membrane] (Homo sapiens)
HEPH [plasma membrane] (Homo sapiens)
Transport of small molecules (Homo sapiens)
Iron uptake and transport (Homo sapiens)
SLC40A1:HEPH:6Cu2+ oxidises 4Fe2+ to 4Fe3+ (Homo sapiens)
SLC40A1:HEPH:6Cu2+ [plasma membrane] (Homo sapiens)
HEPH [plasma membrane] (Homo sapiens)
SLC40A1:HEPH:6Cu2+ transports Fe2+ from cytosol to extracellular region (Homo sapiens)
SLC40A1:HEPH:6Cu2+ [plasma membrane] (Homo sapiens)
HEPH [plasma membrane] (Homo sapiens)
SLC-mediated transmembrane transport (Homo sapiens)
Transport of bile salts and organic acids, metal ions and amine compounds (Homo sapiens)
Metal ion SLC transporters (Homo sapiens)
SLC40A1:HEPH:6Cu2+ transports Fe2+ from cytosol to extracellular region (Homo sapiens)
SLC40A1:HEPH:6Cu2+ [plasma membrane] (Homo sapiens)
HEPH [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9BQS7 HEPH
Gene Names
HEPH, KIAA0698, UNQ2562/PRO6242
Chain
signal peptide:1-23, chain:24-1158
Reference Genes
COSMIC (genes):HEPH Q9BQS73
dbSNP Gene:9843 Q9BQS73
ENSEMBL:ENSG00000089472 HEPH
Participates
as a component of
HEPH:6xCu2+:SLC40A1 mutants [plasma membrane] (Homo sapiens)
SLC40A1:HEPH:6Cu2+ [plasma membrane] (Homo sapiens)
Inferred To
HEPH [plasma membrane]
(Bos taurus)
HEPH [plasma membrane]
(Canis familiaris)
HEPH [plasma membrane]
(Gallus gallus)
HEPH [plasma membrane]
(Mus musculus)
HEPH [plasma membrane]
(Rattus norvegicus)
HEPH [plasma membrane]
(Sus scrofa)
hephl1 [plasma membrane]
(Xenopus tropicalis)
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