SLCtables

SLC40A1

Protein name: ferroportin (FPN1) Aliases: MTP1, IREG1 Substrates: ferrous iron Transport type: Facilitated transporter ? Tissue and cellular expression: duodenum, macrophages, liver Kupffer cells, placenta, kidney Subcellular expression: basolateral (duodenum) Disease: hemochromatosis type 4, breast cancer Locus: 2q32 Sequence ID: NP_055400.1, NM_014585.5 Gene ID: 30061 Splice variants: FPN1B, specifically expressed in the duodenal enterocytes and in erythroid precursor cells

S40A1_HUMAN (UniProt)

Gene names: SLC40A1, FPN1, IREG1, SLC11A3, MSTP079
Protein names and data: S40A1_HUMAN, Full=Solute carrier family 40 member 1, Full=Ferroportin-1;Full=Iron-regulated transporter 1; Length: 571 a.a., Mass: 62542 Da,
fasta formatted sequence
Function: May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin)
Disease: (OMIM: 604653 606069) Defects in SLC40A1 are the cause of hemochromatosis type 4 (HFE4) [MIM:606069]. HFE4 is an autosomal dominant iron-loading disorder characterized by early iron accumulation in reticuloendothelial cells and a marked increase in serum ferritin before elevation of the transferrin saturation
Cellular location: Cell membrane; Multi-pass membrane protein. Note=Localized to the basolateral membrane of polarized epithelial cells
Tissue specificity: Expressed in placenta, intestine, muscle and spleen

Database cross-references

UniProt: Q9NP59
NextBio: 52848
OMIM: 604653 606069
Ensembl: ENST00000261024
GeneCard: GC02M189560
PharmGenUCSF: SLC40A1
Guide to Pharmacology: SLC40A1 (1194)
SLC40 iron transporter (1194)
HGNC: HGNC:10909

Genetic variants

See also Ensembl:ENST00000261024

64 - 64 Y -> N (in HFE4). VAR_030057
77 - 77 A -> D (in HFE4). VAR_022594
80 - 80 G -> S (in iron overload). VAR_030058
80 - 80 G -> V (in HFE4). VAR_030059
144 - 144 N -> D (in HFE4). VAR_030060
144 - 144 N -> H (in HFE4). VAR_022595
144 - 144 N -> T (in HFE4). VAR_030061
157 - 157 D -> G (in HFE4). VAR_022596
162 - 162 Missing (in HFE4). VAR_022597
174 - 174 N -> I (in iron overload). VAR_030062
181 - 181 D -> V (in HFE4). VAR_030063
182 - 182 Q -> H (in HFE4). VAR_022598
248 - 248 Q -> H (common polymorphism associated with mild anemia and a tendency to iron loading; dbSNP:rs11568350). VAR_020295 11568350
267 - 267 G -> D (in HFE4). VAR_030064
270 - 270 D -> V (in HFE4). VAR_030065
323 - 323 G -> V (in HFE4). VAR_022599
326 - 326 C -> Y (in iron overload). VAR_030066
432 - 432 M -> V (in dbSNP:rs11568355). VAR_020296 11568355
443 - 443 P -> L (in dbSNP:rs45606432). VAR_029299 45606432
490 - 490 G -> D (in iron overload). VAR_030067
561 - 561 R -> G (in dbSNP:rs11568346). VAR_018980 11568346