S40A1_HUMAN
Source:
hRBCD
; ID:
IPI00005547
PM19886704
PM23856902
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
SLC40A1
, FPN1, IREG1, SLC11A3
, MSTP079
Protein names and data:
S40A1_HUMAN
, Solute carrier family 40 member 1
, Ferroportin-1; Iron-regulated transporter 1
Lenght: 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
)
Hemochromatosis 4 (HFE4) [MIM:606069]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Genetic variants
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
Database cross-references
UniProt:
Q9NP59
Ensembl:
ENST00000261024
MIM:
604653
MIM:
606069
neXtProt:
NX_Q9NP59
Antibodypedia:
Q9NP59
(may not find the protein thus also not any antibody)
Local full text data:
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