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Solute carrier family 40 member 1 (Ferroportin-1) (Iron-regulated transporter 1)

 S40A1_HUMAN             Reviewed;         571 AA.
Q9NP59; Q6FI62; Q7Z4F8; Q8IVB2; Q9NRL0;
07-JUN-2004, integrated into UniProtKB/Swiss-Prot.
01-OCT-2000, sequence version 1.
25-APR-2018, entry version 154.
RecName: Full=Solute carrier family 40 member 1;
AltName: Full=Ferroportin-1;
AltName: Full=Iron-regulated transporter 1;
Name=SLC40A1; Synonyms=FPN1, IREG1, SLC11A3; ORFNames=MSTP079;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANT HFE4
ASP-77.
PubMed=10747949; DOI=10.1074/jbc.M000713200;
Abboud S., Haile D.J.;
"A novel mammalian iron-regulated protein involved in intracellular
iron metabolism.";
J. Biol. Chem. 275:19906-19912(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA], AND SUBCELLULAR LOCATION.
PubMed=10882071; DOI=10.1016/S1097-2765(00)80425-6;
McKie A.T., Marciani P., Rolfs A., Brennan K., Wehr K., Barrow D.,
Miret S., Bomford A., Peters T.J., Farzaneh F., Hediger M.A.,
Hentze M.W., Simpson R.J.;
"A novel duodenal iron-regulated transporter, IREG1, implicated in the
basolateral transfer of iron to the circulation.";
Mol. Cell 5:299-309(2000).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Placenta;
PubMed=10693807; DOI=10.1038/35001596;
Donovan A., Brownlie A., Zhou Y., Shepard J., Pratt S.J., Moynihan J.,
Paw B.H., Drejer A., Barut B., Zapata A., Law T.C., Brugnara C.,
Lux S.E. IV, Pinkus G.S., Pinkus J.L., Kingsley P.D., Palis J.,
Fleming M.D., Andrews N.C., Zon L.I.;
"Positional cloning of zebrafish ferroportin1 identifies a conserved
vertebrate iron exporter.";
Nature 403:776-781(2000).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Uterus;
PubMed=11230166; DOI=10.1101/gr.GR1547R;
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
Wambutt R., Korn B., Klein M., Poustka A.;
"Towards a catalog of human genes and proteins: sequencing and
analysis of 500 novel complete protein coding human cDNAs.";
Genome Res. 11:422-435(2001).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Blood, and Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-133.
TISSUE=Aorta;
Hui R.T., Zhao B., Sheng H., Qin B.M., Liu Y.Q., Liu B., Wang X.Y.,
Xu H.S., Zhang Q., Tong Y.K., Song L., Ji X.J., Liu B.H., Lu H.,
Chen J.Z., Cai M.Q., Zheng W.Y., Teng C.Y., Liu Q., Yu L.T., Lin J.,
Gong Q., Zhang A.M., Gao R.L.;
Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-6; 16-129 AND 255-316, AND
VARIANT HFE4 VAL-270.
PubMed=15338274; DOI=10.1007/s00439-004-1166-y;
Zaahl M.G., Merryweather-Clarke A.T., Kotze M.J., van der Merwe S.,
Warnich L., Robson K.J.H.;
"Analysis of genes implicated in iron regulation in individuals
presenting with primary iron overload.";
Hum. Genet. 115:409-417(2004).
[12]
SUBCELLULAR LOCATION, TISSUE SPECIFICITY, IDENTIFICATION IN A COMPLEX
WITH STOM, AND SUBUNIT.
PubMed=23219802; DOI=10.1016/j.bbamem.2012.11.030;
Rungaldier S., Oberwagner W., Salzer U., Csaszar E., Prohaska R.;
"Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1
in human erythrocyte membrane domains.";
Biochim. Biophys. Acta 1828:956-966(2013).
[13]
VARIANT HFE4 ASP-77.
PubMed=11518736; DOI=10.1172/JCI200113468;
Montosi G., Donovan A., Totaro A., Garuti C., Pignatti E.,
Cassanelli S., Trenor C.C., Gasparini P., Andrews N.C.,
Pietrangelo A.;
"Autosomal-dominant hemochromatosis is associated with a mutation in
the ferroportin (SLC11A3) gene.";
J. Clin. Invest. 108:619-623(2001).
[14]
VARIANT HFE4 HIS-144.
PubMed=11431687; DOI=10.1038/90038;
Njajou O.T., Vaessen N., Joosse M., Berghuis B., van Dongen J.W.F.,
Breuning M.H., Snijders P.J.L.M., Rutten W.P.F., Sandkuijl L.A.,
Oostra B.A., van Duijn C.M., Heutink P.;
"A mutation in SLC11A3 is associated with autosomal dominant
hemochromatosis.";
Nat. Genet. 28:213-214(2001).
[15]
VARIANT HFE4 VAL-162 DEL.
PubMed=12091366; DOI=10.1182/blood.V100.2.692;
Wallace D.F., Pedersen P., Dixon J.L., Stephenson P., Searle J.W.,
Powell L.W., Subramaniam V.N.;
"Novel mutation in ferroportin1 is associated with autosomal dominant
hemochromatosis.";
Blood 100:692-694(2002).
[16]
VARIANT HFE4 VAL-162 DEL.
PubMed=12091367; DOI=10.1182/blood-2001-11-0132;
Devalia V., Carter K., Walker A.P., Perkins S.J., Worwood M., May A.,
Dooley J.S.;
"Autosomal dominant reticuloendothelial iron overload associated with
a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).";
Blood 100:695-697(2002).
[17]
VARIANT HFE4 VAL-162 DEL.
PubMed=12123233; DOI=10.1182/blood-2002-03-0693;
Roetto A., Merryweather-Clarke A.T., Daraio F., Livesey K.,
Pointon J.J., Barbabietola G., Piga A., Mackie P.H., Robson K.J.H.,
Camaschella C.;
"A valine deletion of ferroportin 1: a common mutation in
hemochromastosis type 4.";
Blood 100:733-734(2002).
[18]
VARIANT HFE4 VAL-162 DEL.
PubMed=12406098; DOI=10.1046/j.1365-2141.2002.03946.x;
Cazzola M., Cremonesi L., Papaioannou M., Soriani N., Kioumi A.,
Charalambidou A., Paroni R., Romtsou K., Levi S., Ferrari M.,
Arosio P., Christakis J.;
"Genetic hyperferritinaemia and reticuloendothelial iron overload
associated with a three base pair deletion in the coding region of the
ferroportin gene (SLC11A3).";
Br. J. Haematol. 119:539-546(2002).
[19]
VARIANTS HFE4 GLY-157; HIS-182 AND VAL-323.
PubMed=12730114; DOI=10.1182/blood-2003-02-0439;
Hetet G., Devaux I., Soufir N., Grandchamp B., Beaumont C.;
"Molecular analyses of patients with hyperferritinemia and normal
serum iron values reveal both L ferritin IRE and 3 new ferroportin
(SLC11A3) mutations.";
Blood 102:1904-1910(2003).
[20]
VARIANT HIS-248.
PubMed=14636642; DOI=10.1016/S1079-9796(03)00164-5;
Gordeuk V.R., Caleffi A., Corradini E., Ferrara F., Jones R.A.,
Castro O., Onyekwere O., Kittles R., Pignatti E., Montosi G.,
Garuti C., Gangaidzo I.T., Gomo Z.A.R., Moyo V.M., Rouault T.A.,
MacPhail P., Pietrangelo A.;
"Iron overload in Africans and African-Americans and a common mutation
in the SCL40A1 (ferroportin 1) gene.";
Blood Cells Mol. Dis. 31:299-304(2003).
[21]
VARIANT HFE4 THR-144.
PubMed=12865285; DOI=10.1136/gut.52.8.1215;
Arden K.E., Wallace D.F., Dixon J.L., Summerville L., Searle J.W.,
Anderson G.J., Ramm G.A., Powell L.W., Subramaniam V.N.;
"A novel mutation in ferroportin1 is associated with haemochromatosis
in a Solomon Islands patient.";
Gut 52:1215-1217(2003).
[22]
VARIANT HFE4 ASN-64.
PubMed=12857562;
Rivard S.R., Lanzara C., Grimard D., Carella M., Simard H.,
Ficarella R., Simard R., D'Adamo A.P., De Braekeleer M., Gasparini P.;
"Autosomal dominant reticuloendothelial iron overload (HFE type 4) due
to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a
large French-Canadian family.";
Haematologica 88:824-826(2003).
[23]
VARIANT IRON OVERLOAD ASP-490.
PubMed=12873829; DOI=10.1016/S0168-8278(03)00148-X;
Jouanolle A.-M., Douabin-Gicquel V., Halimi C., Loreal O.,
Fergelot P., Delacour T., de Lajarte-Thirouard A.-S., Turlin B.,
Le Gall J.-Y., Cadet E., Rochette J., David V., Brissot P.;
"Novel mutation in ferroportin 1 gene is associated with autosomal
dominant iron overload.";
J. Hepatol. 39:286-289(2003).
[24]
VARIANTS IRON OVERLOAD SER-80 AND ILE-174.
PubMed=14757427; DOI=10.1016/j.bcmd.2003.08.003;
Pietrangelo A.;
"The ferroportin disease.";
Blood Cells Mol. Dis. 32:131-138(2004).
[25]
VARIANTS HFE4 ASP-144 AND VAL-270, AND VARIANT IRON OVERLOAD TYR-326.
PubMed=15466004; DOI=10.1136/jmg.2004.020644;
Robson K.J.H., Merryweather-Clarke A.T., Cadet E., Viprakasit V.,
Zaahl M.G., Pointon J.J., Weatherall D.J., Rochette J.;
"Recent advances in understanding haemochromatosis: a transition
state.";
J. Med. Genet. 41:721-730(2004).
[26]
ERRATUM.
Robson K.J.H., Merryweather-Clarke A.T., Cadet E., Viprakasit V.,
Zaahl M.G., Pointon J.J., Weatherall D.J., Rochette J.;
J. Med. Genet. 41:959-959(2004).
[27]
VARIANTS HFE4 VAL-80; VAL-181 AND ASP-267.
PubMed=16351644; DOI=10.1111/j.1365-2141.2005.05815.x;
Cremonesi L., Forni G.L., Soriani N., Lamagna M., Fermo I., Daraio F.,
Galli A., Pietra D., Malcovati L., Ferrari M., Camaschella C.,
Cazzola M.;
"Genetic and clinical heterogeneity of ferroportin disease.";
Br. J. Haematol. 131:663-670(2005).
[28]
ERRATUM.
Cremonesi L., Forni G.L., Soriani N., Lamagna M., Fermo I., Daraio F.,
Galli A., Pietra D., Malcovati L., Ferrari M., Camaschella C.,
Cazzola M.;
Br. J. Haematol. 132:806-806(2006).
-!- 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).
-!- SUBUNIT: Identified in a complex with STOM.
{ECO:0000269|PubMed:23219802}.
-!- INTERACTION:
P05067:APP; NbExp=5; IntAct=EBI-725153, EBI-77613;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10882071,
ECO:0000269|PubMed:23219802}; Multi-pass membrane protein
{ECO:0000269|PubMed:10882071, ECO:0000269|PubMed:23219802}.
Note=Localized to the basolateral membrane of polarized epithelial
cells.
-!- TISSUE SPECIFICITY: Detected in erythrocytes (at protein level).
Expressed in placenta, intestine, muscle and spleen.
{ECO:0000269|PubMed:10747949, ECO:0000269|PubMed:23219802}.
-!- 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:15338274, ECO:0000269|PubMed:15466004,
ECO:0000269|PubMed:16351644}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the ferroportin (FP) (TC 2.A.100) family.
SLC40A subfamily. {ECO:0000305}.
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EMBL; AF215636; AAF80986.1; -; mRNA.
EMBL; AF231121; AAF44330.1; -; mRNA.
EMBL; AF226614; AAF36697.1; -; mRNA.
EMBL; AL136944; CAB66878.1; -; mRNA.
EMBL; AK314827; BAG37348.1; -; mRNA.
EMBL; CR533564; CAG38595.1; -; mRNA.
EMBL; AC013439; AAX93082.1; -; Genomic_DNA.
EMBL; CH471058; EAX10902.1; -; Genomic_DNA.
EMBL; BC035893; AAH35893.1; -; mRNA.
EMBL; BC037733; AAH37733.1; -; mRNA.
EMBL; AF171087; AAQ13603.1; -; mRNA.
EMBL; AJ604512; CAE53170.1; -; Genomic_DNA.
EMBL; AJ609539; CAE81347.1; -; Genomic_DNA.
EMBL; AJ609540; CAE81348.1; -; Genomic_DNA.
EMBL; AJ616848; CAE83578.1; -; Genomic_DNA.
EMBL; AJ616847; CAE83578.1; JOINED; Genomic_DNA.
CCDS; CCDS2299.1; -.
RefSeq; NP_055400.1; NM_014585.5.
UniGene; Hs.643005; -.
ProteinModelPortal; Q9NP59; -.
IntAct; Q9NP59; 5.
MINT; Q9NP59; -.
STRING; 9606.ENSP00000261024; -.
BindingDB; Q9NP59; -.
ChEMBL; CHEMBL3392948; -.
TCDB; 2.A.100.1.4; the ferroportin (fpn) family.
iPTMnet; Q9NP59; -.
PhosphoSitePlus; Q9NP59; -.
BioMuta; SLC40A1; -.
DMDM; 48428687; -.
EPD; Q9NP59; -.
PaxDb; Q9NP59; -.
PeptideAtlas; Q9NP59; -.
PRIDE; Q9NP59; -.
DNASU; 30061; -.
Ensembl; ENST00000261024; ENSP00000261024; ENSG00000138449.
GeneID; 30061; -.
KEGG; hsa:30061; -.
UCSC; uc002uqp.5; human.
CTD; 30061; -.
DisGeNET; 30061; -.
EuPathDB; HostDB:ENSG00000138449.10; -.
GeneCards; SLC40A1; -.
HGNC; HGNC:10909; SLC40A1.
HPA; HPA065634; -.
MalaCards; SLC40A1; -.
MIM; 604653; gene.
MIM; 606069; phenotype.
neXtProt; NX_Q9NP59; -.
OpenTargets; ENSG00000138449; -.
Orphanet; 139491; Hemochromatosis type 4.
PharmGKB; PA35805; -.
eggNOG; KOG2601; Eukaryota.
eggNOG; ENOG410XS3F; LUCA.
GeneTree; ENSGT00390000015143; -.
HOGENOM; HOG000234273; -.
HOVERGEN; HBG055582; -.
InParanoid; Q9NP59; -.
KO; K14685; -.
OMA; AQMRRID; -.
OrthoDB; EOG091G06RI; -.
PhylomeDB; Q9NP59; -.
TreeFam; TF313463; -.
Reactome; R-HSA-425410; Metal ion SLC transporters.
Reactome; R-HSA-5619049; Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages).
Reactome; R-HSA-5655799; Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum).
Reactome; R-HSA-917937; Iron uptake and transport.
ChiTaRS; SLC40A1; human.
GeneWiki; Ferroportin; -.
GenomeRNAi; 30061; -.
PRO; PR:Q9NP59; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000138449; -.
CleanEx; HS_SLC40A1; -.
ExpressionAtlas; Q9NP59; baseline and differential.
Genevisible; Q9NP59; HS.
GO; GO:0016323; C:basolateral plasma membrane; IDA:UniProtKB.
GO; GO:0005737; C:cytoplasm; TAS:ProtInc.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
GO; GO:0005887; C:integral component of plasma membrane; IC:BHF-UCL.
GO; GO:0005622; C:intracellular; IDA:UniProtKB.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0008021; C:synaptic vesicle; IEA:Ensembl.
GO; GO:0015093; F:ferrous iron transmembrane transporter activity; ISS:BHF-UCL.
GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
GO; GO:0097689; F:iron channel activity; ISS:BHF-UCL.
GO; GO:0005381; F:iron ion transmembrane transporter activity; IMP:BHF-UCL.
GO; GO:0017046; F:peptide hormone binding; IPI:BHF-UCL.
GO; GO:0006879; P:cellular iron ion homeostasis; IMP:BHF-UCL.
GO; GO:0003158; P:endothelium development; IEA:Ensembl.
GO; GO:1903988; P:ferrous iron export across plasma membrane; ISS:BHF-UCL.
GO; GO:0034755; P:iron ion transmembrane transport; IMP:BHF-UCL.
GO; GO:0002260; P:lymphocyte homeostasis; IEA:Ensembl.
GO; GO:0060586; P:multicellular organismal iron ion homeostasis; ISS:BHF-UCL.
GO; GO:0043066; P:negative regulation of apoptotic process; IEA:Ensembl.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
GO; GO:0034395; P:regulation of transcription from RNA polymerase II promoter in response to iron; IEA:Ensembl.
GO; GO:0060345; P:spleen trabecula formation; IEA:Ensembl.
InterPro; IPR009716; Ferroportin-1.
InterPro; IPR036259; MFS_trans_sf.
PANTHER; PTHR11660; PTHR11660; 1.
Pfam; PF06963; FPN1; 1.
SUPFAM; SSF103473; SSF103473; 3.
1: Evidence at protein level;
Cell membrane; Complete proteome; Disease mutation; Glycoprotein;
Ion transport; Iron; Iron transport; Membrane; Polymorphism;
Reference proteome; Transmembrane; Transmembrane helix; Transport.
CHAIN 1 571 Solute carrier family 40 member 1.
/FTId=PRO_0000191310.
TRANSMEM 12 34 Helical. {ECO:0000255}.
TRANSMEM 58 80 Helical. {ECO:0000255}.
TRANSMEM 93 115 Helical. {ECO:0000255}.
TRANSMEM 125 147 Helical. {ECO:0000255}.
TRANSMEM 299 321 Helical. {ECO:0000255}.
TRANSMEM 341 363 Helical. {ECO:0000255}.
TRANSMEM 370 392 Helical. {ECO:0000255}.
TRANSMEM 450 472 Helical. {ECO:0000255}.
TRANSMEM 492 514 Helical. {ECO:0000255}.
TRANSMEM 519 541 Helical. {ECO:0000255}.
CARBOHYD 174 174 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 434 434 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 567 567 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 64 64 Y -> N (in HFE4).
{ECO:0000269|PubMed:12857562}.
/FTId=VAR_030057.
VARIANT 77 77 A -> D (in HFE4; dbSNP:rs28939076).
{ECO:0000269|PubMed:10747949,
ECO:0000269|PubMed:11518736}.
/FTId=VAR_022594.
VARIANT 80 80 G -> S (in iron overload;
dbSNP:rs978427853).
{ECO:0000269|PubMed:14757427}.
/FTId=VAR_030058.
VARIANT 80 80 G -> V (in HFE4; dbSNP:rs104893673).
{ECO:0000269|PubMed:16351644}.
/FTId=VAR_030059.
VARIANT 144 144 N -> D (in HFE4).
{ECO:0000269|PubMed:15466004}.
/FTId=VAR_030060.
VARIANT 144 144 N -> H (in HFE4; dbSNP:rs104893662).
{ECO:0000269|PubMed:11431687}.
/FTId=VAR_022595.
VARIANT 144 144 N -> T (in HFE4).
{ECO:0000269|PubMed:12865285}.
/FTId=VAR_030061.
VARIANT 157 157 D -> G (in HFE4; dbSNP:rs104893663).
{ECO:0000269|PubMed:12730114}.
/FTId=VAR_022596.
VARIANT 162 162 Missing (in HFE4).
{ECO:0000269|PubMed:12091366,
ECO:0000269|PubMed:12091367,
ECO:0000269|PubMed:12123233,
ECO:0000269|PubMed:12406098}.
/FTId=VAR_022597.
VARIANT 174 174 N -> I (in iron overload).
{ECO:0000269|PubMed:14757427}.
/FTId=VAR_030062.
VARIANT 181 181 D -> V (in HFE4; dbSNP:rs104893672).
{ECO:0000269|PubMed:16351644}.
/FTId=VAR_030063.
VARIANT 182 182 Q -> H (in HFE4; dbSNP:rs104893670).
{ECO:0000269|PubMed:12730114}.
/FTId=VAR_022598.
VARIANT 248 248 Q -> H (common polymorphism associated
with mild anemia and a tendency to iron
loading; dbSNP:rs11568350).
{ECO:0000269|PubMed:14636642}.
/FTId=VAR_020295.
VARIANT 267 267 G -> D (in HFE4; dbSNP:rs104893664).
{ECO:0000269|PubMed:16351644}.
/FTId=VAR_030064.
VARIANT 270 270 D -> V (in HFE4; dbSNP:rs368420430).
{ECO:0000269|PubMed:15338274,
ECO:0000269|PubMed:15466004}.
/FTId=VAR_030065.
VARIANT 323 323 G -> V (in HFE4; dbSNP:rs104893671).
{ECO:0000269|PubMed:12730114}.
/FTId=VAR_022599.
VARIANT 326 326 C -> Y (in iron overload).
{ECO:0000269|PubMed:15466004}.
/FTId=VAR_030066.
VARIANT 432 432 M -> V (in dbSNP:rs11568355).
/FTId=VAR_020296.
VARIANT 443 443 P -> L (in dbSNP:rs45606432).
/FTId=VAR_029299.
VARIANT 490 490 G -> D (in iron overload).
{ECO:0000269|PubMed:12873829}.
/FTId=VAR_030067.
VARIANT 561 561 R -> G (in dbSNP:rs11568346).
/FTId=VAR_018980.
CONFLICT 130 133 TSCY -> VSSQ (in Ref. 10; AAQ13603).
{ECO:0000305}.
CONFLICT 324 324 F -> S (in Ref. 9; AAH35893).
{ECO:0000305}.
CONFLICT 430 431 IY -> RD (in Ref. 1; AAF80986).
{ECO:0000305}.
SEQUENCE 571 AA; 62542 MW; E4D6B5594C904959 CRC64;
MTRAGDHNRQ RGCCGSLADY LTSAKFLLYL GHSLSTWGDR MWHFAVSVFL VELYGNSLLL
TAVYGLVVAG SVLVLGAIIG DWVDKNARLK VAQTSLVVQN VSVILCGIIL MMVFLHKHEL
LTMYHGWVLT SCYILIITIA NIANLASTAT AITIQRDWIV VVAGEDRSKL ANMNATIRRI
DQLTNILAPM AVGQIMTFGS PVIGCGFISG WNLVSMCVEY VLLWKVYQKT PALAVKAGLK
EEETELKQLN LHKDTEPKPL EGTHLMGVKD SNIHELEHEQ EPTCASQMAE PFRTFRDGWV
SYYNQPVFLA GMGLAFLYMT VLGFDCITTG YAYTQGLSGS ILSILMGASA ITGIMGTVAF
TWLRRKCGLV RTGLISGLAQ LSCLILCVIS VFMPGSPLDL SVSPFEDIRS RFIQGESITP
TKIPEITTEI YMSNGSNSAN IVPETSPESV PIISVSLLFA GVIAARIGLW SFDLTVTQLL
QENVIESERG IINGVQNSMN YLLDLLHFIM VILAPNPEAF GLLVLISVSF VAMGHIMYFR
FAQNTLGNKL FACGPDAKEV RKENQANTSV V


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