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Q9NP59

- S40A1_HUMAN

UniProt

Q9NP59 - S40A1_HUMAN

Protein

Solute carrier family 40 member 1

Gene

SLC40A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    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).

    GO - Molecular functioni

    1. iron ion transmembrane transporter activity Source: BHF-UCL
    2. protein binding Source: IntAct

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. cellular iron ion homeostasis Source: BHF-UCL
    3. endothelium development Source: Ensembl
    4. iron ion transmembrane transport Source: BHF-UCL
    5. lymphocyte homeostasis Source: Ensembl
    6. multicellular organismal iron ion homeostasis Source: Ensembl
    7. negative regulation of apoptotic process Source: Ensembl
    8. spleen trabecula formation Source: Ensembl
    9. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Ion transport, Iron transport, Transport

    Keywords - Ligandi

    Iron

    Enzyme and pathway databases

    ReactomeiREACT_20547. Metal ion SLC transporters.
    REACT_25060. Iron uptake and transport.

    Protein family/group databases

    TCDBi2.A.100.1.4. the ferroportin (fpn) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 40 member 1
    Alternative name(s):
    Ferroportin-1
    Iron-regulated transporter 1
    Gene namesi
    Name:SLC40A1
    Synonyms:FPN1, IREG1, SLC11A3
    ORF Names:MSTP079
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:10909. SLC40A1.

    Subcellular locationi

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

    GO - Cellular componenti

    1. basolateral plasma membrane Source: UniProt
    2. cytoplasm Source: ProtInc
    3. integral component of membrane Source: ProtInc
    4. integral component of plasma membrane Source: BHF-UCL
    5. intracellular Source: UniProt
    6. multivesicular body Source: Ensembl
    7. plasma membrane Source: LIFEdb
    8. synaptic vesicle Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.13 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti64 – 641Y → N in HFE4. 1 Publication
    VAR_030057
    Natural varianti77 – 771A → D in HFE4. 2 Publications
    VAR_022594
    Natural varianti80 – 801G → V in HFE4. 1 Publication
    VAR_030059
    Natural varianti144 – 1441N → D in HFE4. 1 Publication
    VAR_030060
    Natural varianti144 – 1441N → H in HFE4. 1 Publication
    VAR_022595
    Natural varianti144 – 1441N → T in HFE4. 1 Publication
    VAR_030061
    Natural varianti157 – 1571D → G in HFE4. 1 Publication
    VAR_022596
    Natural varianti162 – 1621Missing in HFE4. 4 Publications
    VAR_022597
    Natural varianti181 – 1811D → V in HFE4. 1 Publication
    VAR_030063
    Natural varianti182 – 1821Q → H in HFE4. 1 Publication
    VAR_022598
    Natural varianti267 – 2671G → D in HFE4. 1 Publication
    VAR_030064
    Natural varianti270 – 2701D → V in HFE4. 2 Publications
    VAR_030065
    Natural varianti323 – 3231G → V in HFE4. 1 Publication
    VAR_022599

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi606069. phenotype.
    Orphaneti139491. Hemochromatosis type 4.
    PharmGKBiPA35805.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 571571Solute carrier family 40 member 1PRO_0000191310Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi434 – 4341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi567 – 5671N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NP59.
    PeptideAtlasiQ9NP59.
    PRIDEiQ9NP59.

    PTM databases

    PhosphoSiteiQ9NP59.

    Expressioni

    Tissue specificityi

    Detected in erythrocytes (at protein level). Expressed in placenta, intestine, muscle and spleen.2 Publications

    Gene expression databases

    ArrayExpressiQ9NP59.
    BgeeiQ9NP59.
    CleanExiHS_SLC40A1.
    GenevestigatoriQ9NP59.

    Interactioni

    Subunit structurei

    Identified in a complex with STOM.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    APPP050674EBI-725153,EBI-77613

    Protein-protein interaction databases

    BioGridi119033. 1 interaction.
    IntActiQ9NP59. 5 interactions.
    MINTiMINT-1404238.
    STRINGi9606.ENSP00000261024.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NP59.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei12 – 3423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei58 – 8023HelicalSequence AnalysisAdd
    BLAST
    Transmembranei93 – 11523HelicalSequence AnalysisAdd
    BLAST
    Transmembranei125 – 14723HelicalSequence AnalysisAdd
    BLAST
    Transmembranei299 – 32123HelicalSequence AnalysisAdd
    BLAST
    Transmembranei341 – 36323HelicalSequence AnalysisAdd
    BLAST
    Transmembranei370 – 39223HelicalSequence AnalysisAdd
    BLAST
    Transmembranei450 – 47223HelicalSequence AnalysisAdd
    BLAST
    Transmembranei492 – 51423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei519 – 54123HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG273752.
    HOGENOMiHOG000234273.
    HOVERGENiHBG055582.
    InParanoidiQ9NP59.
    KOiK14685.
    OMAiLHKETEP.
    OrthoDBiEOG72NRPT.
    PhylomeDBiQ9NP59.
    TreeFamiTF313463.

    Family and domain databases

    InterProiIPR009716. Ferroportin-1.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view]
    PfamiPF06963. FPN1. 1 hit.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 3 hits.

    Sequencei

    Sequence statusi: Complete.

    Q9NP59-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTRAGDHNRQ RGCCGSLADY LTSAKFLLYL GHSLSTWGDR MWHFAVSVFL    50
    VELYGNSLLL TAVYGLVVAG SVLVLGAIIG DWVDKNARLK VAQTSLVVQN 100
    VSVILCGIIL MMVFLHKHEL LTMYHGWVLT SCYILIITIA NIANLASTAT 150
    AITIQRDWIV VVAGEDRSKL ANMNATIRRI DQLTNILAPM AVGQIMTFGS 200
    PVIGCGFISG WNLVSMCVEY VLLWKVYQKT PALAVKAGLK EEETELKQLN 250
    LHKDTEPKPL EGTHLMGVKD SNIHELEHEQ EPTCASQMAE PFRTFRDGWV 300
    SYYNQPVFLA GMGLAFLYMT VLGFDCITTG YAYTQGLSGS ILSILMGASA 350
    ITGIMGTVAF TWLRRKCGLV RTGLISGLAQ LSCLILCVIS VFMPGSPLDL 400
    SVSPFEDIRS RFIQGESITP TKIPEITTEI YMSNGSNSAN IVPETSPESV 450
    PIISVSLLFA GVIAARIGLW SFDLTVTQLL QENVIESERG IINGVQNSMN 500
    YLLDLLHFIM VILAPNPEAF GLLVLISVSF VAMGHIMYFR FAQNTLGNKL 550
    FACGPDAKEV RKENQANTSV V 571
    Length:571
    Mass (Da):62,542
    Last modified:October 1, 2000 - v1
    Checksum:iE4D6B5594C904959
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti130 – 1334TSCY → VSSQ in AAQ13603. 1 PublicationCurated
    Sequence conflicti324 – 3241F → S in AAH35893. (PubMed:15489334)Curated
    Sequence conflicti430 – 4312IY → RD in AAF80986. (PubMed:10747949)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti64 – 641Y → N in HFE4. 1 Publication
    VAR_030057
    Natural varianti77 – 771A → D in HFE4. 2 Publications
    VAR_022594
    Natural varianti80 – 801G → S in iron overload. 1 Publication
    VAR_030058
    Natural varianti80 – 801G → V in HFE4. 1 Publication
    VAR_030059
    Natural varianti144 – 1441N → D in HFE4. 1 Publication
    VAR_030060
    Natural varianti144 – 1441N → H in HFE4. 1 Publication
    VAR_022595
    Natural varianti144 – 1441N → T in HFE4. 1 Publication
    VAR_030061
    Natural varianti157 – 1571D → G in HFE4. 1 Publication
    VAR_022596
    Natural varianti162 – 1621Missing in HFE4. 4 Publications
    VAR_022597
    Natural varianti174 – 1741N → I in iron overload. 1 Publication
    VAR_030062
    Natural varianti181 – 1811D → V in HFE4. 1 Publication
    VAR_030063
    Natural varianti182 – 1821Q → H in HFE4. 1 Publication
    VAR_022598
    Natural varianti248 – 2481Q → H Common polymorphism associated with mild anemia and a tendency to iron loading. 1 Publication
    Corresponds to variant rs11568350 [ dbSNP | Ensembl ].
    VAR_020295
    Natural varianti267 – 2671G → D in HFE4. 1 Publication
    VAR_030064
    Natural varianti270 – 2701D → V in HFE4. 2 Publications
    VAR_030065
    Natural varianti323 – 3231G → V in HFE4. 1 Publication
    VAR_022599
    Natural varianti326 – 3261C → Y in iron overload. 1 Publication
    VAR_030066
    Natural varianti432 – 4321M → V.
    Corresponds to variant rs11568355 [ dbSNP | Ensembl ].
    VAR_020296
    Natural varianti443 – 4431P → L.
    Corresponds to variant rs45606432 [ dbSNP | Ensembl ].
    VAR_029299
    Natural varianti490 – 4901G → D in iron overload. 1 Publication
    VAR_030067
    Natural varianti561 – 5611R → G.
    Corresponds to variant rs11568346 [ dbSNP | Ensembl ].
    VAR_018980

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS2299.1.
    RefSeqiNP_055400.1. NM_014585.5.
    UniGeneiHs.643005.

    Genome annotation databases

    EnsembliENST00000261024; ENSP00000261024; ENSG00000138449.
    GeneIDi30061.
    KEGGihsa:30061.
    UCSCiuc002uqp.4. human.

    Polymorphism databases

    DMDMi48428687.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS2299.1.
    RefSeqi NP_055400.1. NM_014585.5.
    UniGenei Hs.643005.

    3D structure databases

    ProteinModelPortali Q9NP59.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119033. 1 interaction.
    IntActi Q9NP59. 5 interactions.
    MINTi MINT-1404238.
    STRINGi 9606.ENSP00000261024.

    Protein family/group databases

    TCDBi 2.A.100.1.4. the ferroportin (fpn) family.

    PTM databases

    PhosphoSitei Q9NP59.

    Polymorphism databases

    DMDMi 48428687.

    Proteomic databases

    PaxDbi Q9NP59.
    PeptideAtlasi Q9NP59.
    PRIDEi Q9NP59.

    Protocols and materials databases

    DNASUi 30061.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261024 ; ENSP00000261024 ; ENSG00000138449 .
    GeneIDi 30061.
    KEGGi hsa:30061.
    UCSCi uc002uqp.4. human.

    Organism-specific databases

    CTDi 30061.
    GeneCardsi GC02M190389.
    HGNCi HGNC:10909. SLC40A1.
    MIMi 604653. gene.
    606069. phenotype.
    neXtProti NX_Q9NP59.
    Orphaneti 139491. Hemochromatosis type 4.
    PharmGKBi PA35805.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG273752.
    HOGENOMi HOG000234273.
    HOVERGENi HBG055582.
    InParanoidi Q9NP59.
    KOi K14685.
    OMAi LHKETEP.
    OrthoDBi EOG72NRPT.
    PhylomeDBi Q9NP59.
    TreeFami TF313463.

    Enzyme and pathway databases

    Reactomei REACT_20547. Metal ion SLC transporters.
    REACT_25060. Iron uptake and transport.

    Miscellaneous databases

    GeneWikii Ferroportin.
    GenomeRNAii 30061.
    NextBioi 52848.
    PROi Q9NP59.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NP59.
    Bgeei Q9NP59.
    CleanExi HS_SLC40A1.
    Genevestigatori Q9NP59.

    Family and domain databases

    InterProi IPR009716. Ferroportin-1.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view ]
    Pfami PF06963. FPN1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 3 hits.
    ProtoNeti Search...

    Publicationsi

    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Placenta.
    4. 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.
      , 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.
      , 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. 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. 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. "Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains."
      Rungaldier S., Oberwagner W., Salzer U., Csaszar E., Prohaska R.
      Biochim. Biophys. Acta 1828:956-966(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, IDENTIFICATION IN A COMPLEX WITH STOM, SUBUNIT.
    13. "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.
    14. Cited for: VARIANT HFE4 HIS-144.
    15. "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.
    16. "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.
    17. Cited for: VARIANT HFE4 VAL-162 DEL.
    18. "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.
    19. "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.
    20. Cited for: VARIANT HIS-248.
    21. "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.
    22. "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.
    23. Cited for: VARIANT IRON OVERLOAD ASP-490.
    24. Cited for: VARIANTS IRON OVERLOAD SER-80 AND ILE-174.
    25. Cited for: VARIANTS HFE4 ASP-144 AND VAL-270, VARIANT IRON OVERLOAD TYR-326.
    26. Cited for: VARIANTS HFE4 VAL-80; VAL-181 AND ASP-267.

    Entry informationi

    Entry nameiS40A1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NP59
    Secondary accession number(s): Q6FI62
    , Q7Z4F8, Q8IVB2, Q9NRL0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 122 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3