SLC40A1
entrez
30061
canonical
uniprot
Q9NP59
canonical
ensembl
ENSG00000138449
resolver
ensp
ENSP00000261024
resolver
ensp
ENSP00000522982
resolver
ensp
ENSP00000522983
resolver
ensp
ENSP00000522984
resolver
ensp
ENSP00000522985
resolver
ensp
ENSP00000522986
resolver
ensp
ENSP00000522987
resolver
ensp
ENSP00000642217
resolver
enst
ENST00000261024
resolver
enst
ENST00000852923
resolver
enst
ENST00000852924
resolver
enst
ENST00000852925
resolver
enst
ENST00000852926
resolver
enst
ENST00000852927
resolver
enst
ENST00000852928
resolver
enst
ENST00000972158
resolver
genesymbol
SLC40A1
resolver
genesymbol_syn
FPN
resolver
genesymbol_syn
FPN1
resolver
genesymbol_syn
IREG1
resolver
genesymbol_syn
SLC11A3
resolver
hgnc
HGNC:10909
resolver
uniprot
Q6FI62
resolver
uniprot
Q7Z4F8
resolver
uniprot
Q8IVB2
resolver
uniprot
Q9NRL0
resolver
uniprot_entry
S40A1_HUMAN
resolver
uniprot_sec
Q6FI62
resolver
uniprot_sec
Q7Z4F8
resolver
uniprot_sec
Q8IVB2
resolver
uniprot_sec
Q9NRL0
resolver
amino_acid_sequence
MTRAGDHNRQRGCCGSLADYLTSAKFLLYLGHSLSTWGDRMWHFAVSVFLVELYGNSLLLTAVYGLVVAGSVLVLGAIIGDWVDKNARLKVAQTSLVVQNVSVILCGIILMMVFLHKHELLTMYHGWVLTSCYILIITIANIANLASTATAITIQRDWIVVVAGEDRSKLANMNATIRRIDQLTNILAPMAVGQIMTFGSPVIGCGFISGWNLVSMCVEYVLLWKVYQKTPALAVKAGLKEEETELKQLNLHKDTEPKPLEGTHLMGVKDSNIHELEHEQEPTCASQMAEPFRTFRDGWVSYYNQPVFLAGMGLAFLYMTVLGFDCITTGYAYTQGLSGSILSILMGASAITGIMGTVAFTWLRRKCGLVRTGLISGLAQLSCLILCVISVFMPGSPLDLSVSPFEDIRSRFIQGESITPTKIPEITTEIYMSNGSNSANIVPETSPESVPIISVSLLFAGVIAARIGLWSFDLTVTQLLQENVIESERGIINGVQNSMNYLLDLLHFIMVILAPNPEAFGLLVLISVSFVAMGHIMYFRFAQNTLGNKLFACGPDAKEVRKENQANTSVV
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:10747949, ECO:0000269|PubMed:11431687, ECO:0000269|PubMed:11518736, ECO:0000269|PubMed:12091366, ECO:0000269|PubMed:12091367, ECO:0000269|PubMed:12123233, ECO:0000269|PubMed:12406098, ECO:0000269|PubMed:12730114, ECO:0000269|PubMed:12857562, ECO:0000269|PubMed:12865285, ECO:0000269|PubMed:12873829, ECO:0000269|PubMed:14757427, ECO:0000269|PubMed:15338274, ECO:0000269|PubMed:15466004, ECO:0000269|PubMed:15692071, ECO:0000269|PubMed:16351644, ECO:0000269|PubMed:29237594, ECO:0000269|PubMed:30247984}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transports Fe(2+) from the inside of a cell to the outside of the cell, playing a key role for maintaining systemic iron homeostasis (PubMed:15692071, PubMed:22178646, PubMed:22682227, PubMed:24304836, PubMed:29237594, PubMed:29599243, PubMed:30247984). Transports iron from intestinal, splenic, hepatic cells, macrophages and erythrocytes into the blood to provide iron to other tissues (By similarity). Controls therefore dietary iron uptake, iron recycling by macrophages and erythrocytes, and release of iron stores in hepatocytes (By similarity). When iron is in excess in serum, circulating HAMP/hepcidin levels increase resulting in a degradation of SLC40A1, thus limiting the iron efflux to plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342). {ECO:0000250|UniProtKB:Q9JHI9, ECO:0000269|PubMed:15692071, ECO:0000269|PubMed:22178646, ECO:0000269|PubMed:22682227, ECO:0000269|PubMed:24304836, ECO:0000269|PubMed:29237594, ECO:0000269|PubMed:29599243, ECO:0000269|PubMed:30247984, ECO:0000269|PubMed:32814342}.
uniprot
proteins
mass_dalton
62542
uniprot
proteins
mutagenesis
MUTAGEN 88; /note="R->G: Reduces protein stability. Loss of cell surface localization. Loss of iron export activity. Increases intracellular manganese."; /evidence="ECO:0000269|PubMed:30247984"; MUTAGEN 157; /note="D->Y: Loss of iron export activity. Loss of cell surface localization. Increases intracellular manganese."; /evidence="ECO:0000269|PubMed:30247984"; MUTAGEN 170; /note="L->F: Loss of iron export activity."; /evidence="ECO:0000269|PubMed:15692071"; MUTAGEN 236; /note="K->R: No loss of ubiquitination; when associated with R-253."; /evidence="ECO:0000269|PubMed:22682227"; MUTAGEN 240; /note="K->E: Loss of HAMP-induced endocytosis."; /evidence="ECO:0000269|PubMed:22682227, ECO:0000269|PubMed:29237594"; MUTAGEN 253; /note="K->R: No loss of ubiquitination; when associated with R-236."; /evidence="ECO:0000269|PubMed:22682227"; MUTAGEN 326; /note="C->S: Complete loss of HAMP-dependent ubiquitination. Does not affect protein stability. Does not affect cell surface localization."; /evidence="ECO:0000269|PubMed:22682227, ECO:0000269|PubMed:30247984"; MUTAGEN 338; /note="S->R: Reduces protein stability."; /evidence="ECO:0000269|PubMed:30247984"; MUTAGEN 501; /note="Y->C: About 90% loss of HAMP binding."; /evidence="ECO:0000269|PubMed:29237594"; MUTAGEN 504; /note="D->N: About 95% loss of HAMP binding."; /evidence="ECO:0000269|PubMed:29237594
uniprot
proteins
post_translational_modification
PTM: Polyubiquitinated by RNF217; leading to proteasomal degradation (By similarity). Under conditions of high systemic iron levels, both the hormone peptide hepcidin/HAMP and holo(iron bound)-transferrin/TF induce the ubiquitination, internalization and proteasomal degradation of SLC40A1 to control iron release from cells (PubMed:22682227, PubMed:37277838). {ECO:0000250|UniProtKB:Q9JHI9, ECO:0000269|PubMed:22682227, ECO:0000269|PubMed:37277838}.
uniprot
proteins
protein_family
Ferroportin (FP) (TC 2.A.100) family
uniprot
proteins
protein_family
SLC40A subfamily
uniprot
proteins
pubmed
10693807
uniprot
proteins
pubmed
10747949
uniprot
proteins
pubmed
10882071
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11431687
uniprot
proteins
pubmed
11518736
uniprot
proteins
pubmed
12091366
uniprot
proteins
pubmed
12091367
uniprot
proteins
pubmed
12123233
uniprot
proteins
pubmed
12406098
uniprot
proteins
pubmed
12730114
uniprot
proteins
pubmed
12857562
uniprot
proteins
pubmed
12865285
uniprot
proteins
pubmed
12873829
uniprot
proteins
pubmed
14636642
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14757427
uniprot
proteins
pubmed
15338274
uniprot
proteins
pubmed
15466004
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15692071
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16351644
uniprot
proteins
pubmed
22178646
uniprot
proteins
pubmed
22682227
uniprot
proteins
pubmed
23219802
uniprot
proteins
pubmed
24304836
uniprot
proteins
pubmed
29237594
uniprot
proteins
pubmed
29599243
uniprot
proteins
pubmed
29792530
uniprot
proteins
pubmed
30247984
uniprot
proteins
pubmed
32814342
uniprot
proteins
pubmed
37277838
uniprot
proteins
sequence_length
571
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10882071, ECO:0000269|PubMed:15692071, ECO:0000269|PubMed:23219802, ECO:0000269|PubMed:24304836, ECO:0000269|PubMed:29237594, ECO:0000269|PubMed:30247984}; Multi-pass membrane protein {ECO:0000269|PubMed:32814342}. Basolateral cell membrane {ECO:0000269|PubMed:29792530}; Multi-pass membrane protein {ECO:0000269|PubMed:32814342}. Note=Localized to the basolateral membrane of hepatocytoma WIF-B cells. {ECO:0000269|PubMed:29792530}.
uniprot
proteins
transmembrane_region
TRANSMEM 24..53; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 58..84; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 88..118; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 127..162; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 165..195; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 203..229; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 307..333; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 339..366; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 369..391; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 454..483; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 489..513; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S"; TRANSMEM 517..542; /note="Helical"; /evidence="ECO:0000269|PubMed:32814342, ECO:0007744|PDB:6W4S
uniprot
proteins