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Q9NP59

- S40A1_HUMAN

UniProt

Q9NP59 - S40A1_HUMAN

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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

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

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. regulation of transcription from RNA polymerase II promoter in response to iron Source: Ensembl
  9. spleen trabecula formation Source: Ensembl
  10. transmembrane transport Source: Reactome
Complete GO annotation...

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.

Topology

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

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
Complete GO annotation...

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

BgeeiQ9NP59.
CleanExiHS_SLC40A1.
ExpressionAtlasiQ9NP59. baseline and differential.
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...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG273752.
GeneTreeiENSGT00390000015143.
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

        10         20         30         40         50
MTRAGDHNRQ RGCCGSLADY LTSAKFLLYL GHSLSTWGDR MWHFAVSVFL
60 70 80 90 100
VELYGNSLLL TAVYGLVVAG SVLVLGAIIG DWVDKNARLK VAQTSLVVQN
110 120 130 140 150
VSVILCGIIL MMVFLHKHEL LTMYHGWVLT SCYILIITIA NIANLASTAT
160 170 180 190 200
AITIQRDWIV VVAGEDRSKL ANMNATIRRI DQLTNILAPM AVGQIMTFGS
210 220 230 240 250
PVIGCGFISG WNLVSMCVEY VLLWKVYQKT PALAVKAGLK EEETELKQLN
260 270 280 290 300
LHKDTEPKPL EGTHLMGVKD SNIHELEHEQ EPTCASQMAE PFRTFRDGWV
310 320 330 340 350
SYYNQPVFLA GMGLAFLYMT VLGFDCITTG YAYTQGLSGS ILSILMGASA
360 370 380 390 400
ITGIMGTVAF TWLRRKCGLV RTGLISGLAQ LSCLILCVIS VFMPGSPLDL
410 420 430 440 450
SVSPFEDIRS RFIQGESITP TKIPEITTEI YMSNGSNSAN IVPETSPESV
460 470 480 490 500
PIISVSLLFA GVIAARIGLW SFDLTVTQLL QENVIESERG IINGVQNSMN
510 520 530 540 550
YLLDLLHFIM VILAPNPEAF GLLVLISVSF VAMGHIMYFR FAQNTLGNKL
560 570
FACGPDAKEV RKENQANTSV V
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000015143.
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

ChiTaRSi SLC40A1. human.
GeneWikii Ferroportin.
GenomeRNAii 30061.
NextBioi 52848.
PROi Q9NP59.
SOURCEi Search...

Gene expression databases

Bgeei Q9NP59.
CleanExi HS_SLC40A1.
ExpressionAtlasi Q9NP59. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 124 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