Entity Details

Primary name SLC40A1
Entity type gene
Source Source Link

Details

PrimaryID30061
RefseqGeneNG_009027
SymbolSLC40A1
Namesolute carrier family 40 member 1
Chromosome2
Location2q32.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS40A1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005381 iron ion transmembrane transporter activity
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006879 cellular iron ion homeostasis
GO:0015093 ferrous iron transmembrane transporter activity
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0017046 peptide hormone binding
GO:0034755 iron ion transmembrane transport
GO:0055072 iron ion homeostasis
GO:0060586 multicellular organismal iron ion homeostasis
GO:1903988 iron ion export across plasma membrane

Diseases

Show/Hide Table
Disease IDSourceNameDescription
606069 OMIMHemochromatosis 4 (HFE4)A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. The disease is caused by variants affecting the gene represented in this entry.