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solute carrier family 40 member 1 (SLC40A1, SLC11A3, ferroportin-1, iron-regulated transporter 1, proton-coupled divalent metal ion transporter, FPN1, IREG1, MSTP079)
Function:
1) iron export from duodenal epithelial cells (putative)
2) transfer of iron between maternal & fetal circulation (putative)
3) mediates iron efflux in the presence of a ferroxidase (hephaestin &/or ceruloplasmin)
3) regulated (inhibited) by hepcidin)
a) hepcidin binds to ferroprotein causing internalization & subsequent degradation by the proteasome
b) this results in retention of iron within the cell (enterocyte, hepatocyte, macrophage) & reduction of plasma iron
Compartment:
- localized to basolateral membrane of polarized epithelial cells
Expression:
1) expressed in placenta, intestine, muscle & spleen
2) expressed in duodenal enterocytes, hepatocytes & macrophages of the reticuloendothelial system
Pathology:
- defects in SLC40A1 are the cause of hemochromatosis type 4
Related
hemochromatosis
hepcidin antimicrobial peptide; liver-expressed antimicrobial peptide; LEAP-1; putative liver tumor regressor; PLTR [Contains: Hepcidin-25 (Hepc25); Hepcidin-20 (Hepc20)] (HAMP, HEPC, LEAP1, UNQ487/PRO1003)
SLC40A1 gene mutation
General
glycoprotein
solute carrier family 11 (SLC11, SLC11A)
solute carrier family 40 (SLC40, SLC40A)
transmembrane 10e protein
Properties
SIZE: MW = 63 kD
entity length = 571 aa
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {12-34}
transmembrane domain {58-80}
transmembrane domain {93-115}
transmembrane domain {125-147}
N-glycosylation site {N174}
transmembrane domain {299-321}
transmembrane domain {341-363}
transmembrane domain {370-392}
N-glycosylation site {N434}
transmembrane domain {450-472}
transmembrane domain {492-514}
transmembrane domain {519-541}
N-glycosylation site {N567}
Database Correlations
OMIM correlations
MORBIDMAP 604653
UniProt Q9NP59
Pfam PF06963
Kegg hsa:3006
References
- UniProt :accession Q9NP59
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC40A1
- Wikipedia: Ferroportin
http://en.wikipedia.org/wiki/Ferroportin