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Q9NP59 (S40A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 40 member 1
Alternative name(s):
Ferroportin-1
Iron-regulated transporter 1
Gene names
Name:SLC40A1
Synonyms:FPN1, IREG1, SLC11A3
ORF Names:MSTP079
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length571 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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).

Subcellular location

Cell membrane; Multi-pass membrane protein. Note: Localized to the basolateral membrane of polarized epithelial cells. Ref.2

Tissue specificity

Expressed in placenta, intestine, muscle and spleen. Ref.1

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.20 Ref.21 Ref.24 Ref.26

Sequence similarities

Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Iron transport
Transport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   LigandIron
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement Ref.3. Source: ProtInc

cellular iron ion homeostasis

Inferred from mutant phenotype Ref.15. Source: BHF-UCL

endothelium development

Inferred from electronic annotation. Source: Ensembl

iron ion transmembrane transport

Inferred from mutant phenotype Ref.15. Source: BHF-UCL

lymphocyte homeostasis

Inferred from electronic annotation. Source: Ensembl

multicellular organismal iron ion homeostasis

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

spleen trabecula formation

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentcytoplasm

Traceable author statement Ref.1. Source: ProtInc

integral component of membrane

Traceable author statement Ref.1. Source: ProtInc

integral component of plasma membrane

Inferred by curator Ref.15. Source: BHF-UCL

multivesicular body

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Inferred from direct assay. Source: LIFEdb

synaptic vesicle

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioniron ion transmembrane transporter activity

Inferred from mutant phenotype Ref.15. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

APPP050674EBI-725153,EBI-77613

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 571571Solute carrier family 40 member 1
PRO_0000191310

Regions

Transmembrane12 – 3423Helical; Potential
Transmembrane58 – 8023Helical; Potential
Transmembrane93 – 11523Helical; Potential
Transmembrane125 – 14723Helical; Potential
Transmembrane299 – 32123Helical; Potential
Transmembrane341 – 36323Helical; Potential
Transmembrane370 – 39223Helical; Potential
Transmembrane450 – 47223Helical; Potential
Transmembrane492 – 51423Helical; Potential
Transmembrane519 – 54123Helical; Potential

Amino acid modifications

Glycosylation1741N-linked (GlcNAc...) Potential
Glycosylation4341N-linked (GlcNAc...) Potential
Glycosylation5671N-linked (GlcNAc...) Potential

Natural variations

Natural variant641Y → N in HFE4. Ref.21
VAR_030057
Natural variant771A → D in HFE4. Ref.1 Ref.12
VAR_022594
Natural variant801G → S in iron overload. Ref.23
VAR_030058
Natural variant801G → V in HFE4. Ref.26
VAR_030059
Natural variant1441N → D in HFE4. Ref.24
VAR_030060
Natural variant1441N → H in HFE4. Ref.13
VAR_022595
Natural variant1441N → T in HFE4. Ref.20
VAR_030061
Natural variant1571D → G in HFE4. Ref.18
VAR_022596
Natural variant1621Missing in HFE4. Ref.14 Ref.15 Ref.16 Ref.17
VAR_022597
Natural variant1741N → I in iron overload. Ref.23
VAR_030062
Natural variant1811D → V in HFE4. Ref.26
VAR_030063
Natural variant1821Q → H in HFE4. Ref.18
VAR_022598
Natural variant2481Q → H Common polymorphism associated with mild anemia and a tendency to iron loading. Ref.19
Corresponds to variant rs11568350 [ dbSNP | Ensembl ].
VAR_020295
Natural variant2671G → D in HFE4. Ref.26
VAR_030064
Natural variant2701D → V in HFE4. Ref.11 Ref.24
VAR_030065
Natural variant3231G → V in HFE4. Ref.18
VAR_022599
Natural variant3261C → Y in iron overload. Ref.24
VAR_030066
Natural variant4321M → V.
Corresponds to variant rs11568355 [ dbSNP | Ensembl ].
VAR_020296
Natural variant4431P → L.
Corresponds to variant rs45606432 [ dbSNP | Ensembl ].
VAR_029299
Natural variant4901G → D in iron overload. Ref.22
VAR_030067
Natural variant5611R → G.
Corresponds to variant rs11568346 [ dbSNP | Ensembl ].
VAR_018980

Experimental info

Sequence conflict130 – 1334TSCY → VSSQ in AAQ13603. Ref.10
Sequence conflict3241F → S in AAH35893. Ref.9
Sequence conflict430 – 4312IY → RD in AAF80986. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9NP59 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: E4D6B5594C904959

FASTA57162,542
        10         20         30         40         50         60 
MTRAGDHNRQ RGCCGSLADY LTSAKFLLYL GHSLSTWGDR MWHFAVSVFL VELYGNSLLL 

        70         80         90        100        110        120 
TAVYGLVVAG SVLVLGAIIG DWVDKNARLK VAQTSLVVQN VSVILCGIIL MMVFLHKHEL 

       130        140        150        160        170        180 
LTMYHGWVLT SCYILIITIA NIANLASTAT AITIQRDWIV VVAGEDRSKL ANMNATIRRI 

       190        200        210        220        230        240 
DQLTNILAPM AVGQIMTFGS PVIGCGFISG WNLVSMCVEY VLLWKVYQKT PALAVKAGLK 

       250        260        270        280        290        300 
EEETELKQLN LHKDTEPKPL EGTHLMGVKD SNIHELEHEQ EPTCASQMAE PFRTFRDGWV 

       310        320        330        340        350        360 
SYYNQPVFLA GMGLAFLYMT VLGFDCITTG YAYTQGLSGS ILSILMGASA ITGIMGTVAF 

       370        380        390        400        410        420 
TWLRRKCGLV RTGLISGLAQ LSCLILCVIS VFMPGSPLDL SVSPFEDIRS RFIQGESITP 

       430        440        450        460        470        480 
TKIPEITTEI YMSNGSNSAN IVPETSPESV PIISVSLLFA GVIAARIGLW SFDLTVTQLL 

       490        500        510        520        530        540 
QENVIESERG IINGVQNSMN YLLDLLHFIM VILAPNPEAF GLLVLISVSF VAMGHIMYFR 

       550        560        570 
FAQNTLGNKL FACGPDAKEV RKENQANTSV V 

« Hide

References

« Hide 'large scale' references
[1]"A novel mammalian iron-regulated protein involved in intracellular iron metabolism."
Abboud S., Haile D.J.
J. Biol. Chem. 275:19906-19912(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT HFE4 ASP-77.
[2]"A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation."
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.
Mol. Cell 5:299-309(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION.
[3]"Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter."
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.
Nature 403:776-781(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Placenta.
[4]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
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. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Uterus.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[6]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
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. expand/collapse author list , 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.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Blood and Testis.
[10]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. expand/collapse author list , Liu Q., Yu L.T., Lin J., Gong Q., Zhang A.M., Gao R.L.
Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-133.
Tissue: Aorta.
[11]"Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload."
Zaahl M.G., Merryweather-Clarke A.T., Kotze M.J., van der Merwe S., Warnich L., Robson K.J.H.
Hum. Genet. 115:409-417(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-6; 16-129 AND 255-316, VARIANT HFE4 VAL-270.
[12]"Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene."
Montosi G., Donovan A., Totaro A., Garuti C., Pignatti E., Cassanelli S., Trenor C.C., Gasparini P., Andrews N.C., Pietrangelo A.
J. Clin. Invest. 108:619-623(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFE4 ASP-77.
[13]"A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis."
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.
Nat. Genet. 28:213-214(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFE4 HIS-144.
[14]"Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis."
Wallace D.F., Pedersen P., Dixon J.L., Stephenson P., Searle J.W., Powell L.W., Subramaniam V.N.
Blood 100:692-694(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFE4 VAL-162 DEL.
[15]"Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)."
Devalia V., Carter K., Walker A.P., Perkins S.J., Worwood M., May A., Dooley J.S.
Blood 100:695-697(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFE4 VAL-162 DEL.
[16]"A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4."
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.
Blood 100:733-734(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFE4 VAL-162 DEL.
[17]"Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)."
Cazzola M., Cremonesi L., Papaioannou M., Soriani N., Kioumi A., Charalambidou A., Paroni R., Romtsou K., Levi S., Ferrari M., Arosio P., Christakis J.
Br. J. Haematol. 119:539-546(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFE4 VAL-162 DEL.
[18]"Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (SLC11A3) mutations."
Hetet G., Devaux I., Soufir N., Grandchamp B., Beaumont C.
Blood 102:1904-1910(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HFE4 GLY-157; HIS-182 AND VAL-323.
[19]"Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene."
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.
Blood Cells Mol. Dis. 31:299-304(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HIS-248.
[20]"A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient."
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.
Gut 52:1215-1217(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFE4 THR-144.
[21]"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."
Rivard S.R., Lanzara C., Grimard D., Carella M., Simard H., Ficarella R., Simard R., D'Adamo A.P., De Braekeleer M., Gasparini P.
Haematologica 88:824-826(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFE4 ASN-64.
[22]"Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload."
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.
J. Hepatol. 39:286-289(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IRON OVERLOAD ASP-490.
[23]"The ferroportin disease."
Pietrangelo A.
Blood Cells Mol. Dis. 32:131-138(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS IRON OVERLOAD SER-80 AND ILE-174.
[24]"Recent advances in understanding haemochromatosis: a transition state."
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. 41:721-730(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HFE4 ASP-144 AND VAL-270, VARIANT IRON OVERLOAD TYR-326.
[25]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)
[26]"Genetic and clinical heterogeneity of ferroportin disease."
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. 131:663-670(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HFE4 VAL-80; VAL-181 AND ASP-267.
[27]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)
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF215636 mRNA. Translation: AAF80986.1.
AF231121 mRNA. Translation: AAF44330.1.
AF226614 mRNA. Translation: AAF36697.1.
AL136944 mRNA. Translation: CAB66878.1.
AK314827 mRNA. Translation: BAG37348.1.
CR533564 mRNA. Translation: CAG38595.1.
AC013439 Genomic DNA. Translation: AAX93082.1.
CH471058 Genomic DNA. Translation: EAX10902.1.
BC035893 mRNA. Translation: AAH35893.1.
BC037733 mRNA. Translation: AAH37733.1.
AF171087 mRNA. Translation: AAQ13603.1.
AJ604512 Genomic DNA. Translation: CAE53170.1.
AJ609539 Genomic DNA. Translation: CAE81347.1.
AJ609540 Genomic DNA. Translation: CAE81348.1.
AJ616848, AJ616847 Genomic DNA. Translation: CAE83578.1.
RefSeqNP_055400.1. NM_014585.5.
UniGeneHs.643005.

3D structure databases

ProteinModelPortalQ9NP59.
SMRQ9NP59. Positions 342-380, 479-507.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119033. 1 interaction.
IntActQ9NP59. 5 interactions.
MINTMINT-1404238.
STRING9606.ENSP00000261024.

Protein family/group databases

TCDB2.A.100.1.4. the ferroportin (fpn) family.

PTM databases

PhosphoSiteQ9NP59.

Polymorphism databases

DMDM48428687.

Proteomic databases

PaxDbQ9NP59.
PeptideAtlasQ9NP59.
PRIDEQ9NP59.

Protocols and materials databases

DNASU30061.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261024; ENSP00000261024; ENSG00000138449.
GeneID30061.
KEGGhsa:30061.
UCSCuc002uqp.4. human.

Organism-specific databases

CTD30061.
GeneCardsGC02M190389.
HGNCHGNC:10909. SLC40A1.
MIM604653. gene.
606069. phenotype.
neXtProtNX_Q9NP59.
Orphanet139491. Hemochromatosis type 4.
PharmGKBPA35805.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG273752.
HOGENOMHOG000234273.
HOVERGENHBG055582.
InParanoidQ9NP59.
KOK14685.
OMALHKETEP.
OrthoDBEOG72NRPT.
PhylomeDBQ9NP59.
TreeFamTF313463.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9NP59.
BgeeQ9NP59.
CleanExHS_SLC40A1.
GenevestigatorQ9NP59.

Family and domain databases

InterProIPR009716. Ferroportin-1.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamPF06963. FPN1. 1 hit.
[Graphical view]
SUPFAMSSF103473. SSF103473. 3 hits.
ProtoNetSearch...

Other

GeneWikiFerroportin.
GenomeRNAi30061.
NextBio52848.
PROQ9NP59.
SOURCESearch...

Entry information

Entry nameS40A1_HUMAN
AccessionPrimary (citable) accession number: Q9NP59
Secondary accession number(s): Q6FI62 expand/collapse secondary AC list , Q7Z4F8, Q8IVB2, Q9NRL0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM