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Protein

Solute carrier family 40 member 1

Gene

SLC40A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • ferrous iron transmembrane transporter activity Source: BHF-UCL
  • identical protein binding Source: Ensembl
  • iron channel activity Source: BHF-UCL
  • iron ion transmembrane transporter activity Source: BHF-UCL
  • peptide hormone binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Biological processIon transport, Iron transport, Transport
LigandIron

Enzyme and pathway databases

ReactomeiR-HSA-425410 Metal ion SLC transporters
R-HSA-5619049 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
R-HSA-5655799 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
R-HSA-917937 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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138449.10
HGNCiHGNC:10909 SLC40A1
MIMi604653 gene
neXtProtiNX_Q9NP59

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei12 – 34HelicalSequence analysisAdd BLAST23
Transmembranei58 – 80HelicalSequence analysisAdd BLAST23
Transmembranei93 – 115HelicalSequence analysisAdd BLAST23
Transmembranei125 – 147HelicalSequence analysisAdd BLAST23
Transmembranei299 – 321HelicalSequence analysisAdd BLAST23
Transmembranei341 – 363HelicalSequence analysisAdd BLAST23
Transmembranei370 – 392HelicalSequence analysisAdd BLAST23
Transmembranei450 – 472HelicalSequence analysisAdd BLAST23
Transmembranei492 – 514HelicalSequence analysisAdd BLAST23
Transmembranei519 – 541HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hemochromatosis 4 (HFE4)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606069
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03005764Y → N in HFE4. 1 Publication1
Natural variantiVAR_02259477A → D in HFE4. 2 PublicationsCorresponds to variant dbSNP:rs28939076EnsemblClinVar.1
Natural variantiVAR_03005980G → V in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893673EnsemblClinVar.1
Natural variantiVAR_030060144N → D in HFE4. 1 Publication1
Natural variantiVAR_022595144N → H in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893662EnsemblClinVar.1
Natural variantiVAR_030061144N → T in HFE4. 1 Publication1
Natural variantiVAR_022596157D → G in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893663EnsemblClinVar.1
Natural variantiVAR_022597162Missing in HFE4. 4 Publications1
Natural variantiVAR_030063181D → V in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893672EnsemblClinVar.1
Natural variantiVAR_022598182Q → H in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893670EnsemblClinVar.1
Natural variantiVAR_030064267G → D in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893664EnsemblClinVar.1
Natural variantiVAR_030065270D → V in HFE4. 2 PublicationsCorresponds to variant dbSNP:rs368420430EnsemblClinVar.1
Natural variantiVAR_022599323G → V in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893671EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi30061
MalaCardsiSLC40A1
MIMi606069 phenotype
OpenTargetsiENSG00000138449
Orphaneti139491 Hemochromatosis type 4
PharmGKBiPA35805

Chemistry databases

ChEMBLiCHEMBL3392948

Polymorphism and mutation databases

BioMutaiSLC40A1
DMDMi48428687

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001913101 – 571Solute carrier family 40 member 1Add BLAST571

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi434N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi567N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9NP59
PaxDbiQ9NP59
PeptideAtlasiQ9NP59
PRIDEiQ9NP59
ProteomicsDBi81890

PTM databases

iPTMnetiQ9NP59
PhosphoSitePlusiQ9NP59

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000138449
CleanExiHS_SLC40A1
ExpressionAtlasiQ9NP59 baseline and differential
GenevisibleiQ9NP59 HS

Organism-specific databases

HPAiHPA065634

Interactioni

Subunit structurei

Identified in a complex with STOM.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
APPP050675EBI-725153,EBI-77613

GO - Molecular functioni

Protein-protein interaction databases

IntActiQ9NP59, 5 interactors
MINTiQ9NP59
STRINGi9606.ENSP00000261024

Chemistry databases

BindingDBiQ9NP59

Structurei

3D structure databases

ProteinModelPortaliQ9NP59
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2601 Eukaryota
ENOG410XS3F LUCA
GeneTreeiENSGT00390000015143
HOGENOMiHOG000234273
HOVERGENiHBG055582
InParanoidiQ9NP59
KOiK14685
OMAiAQMRRID
OrthoDBiEOG091G06RI
PhylomeDBiQ9NP59
TreeFamiTF313463

Family and domain databases

InterProiView protein in InterPro
IPR009716 Ferroportin-1
IPR036259 MFS_trans_sf
PANTHERiPTHR11660 PTHR11660, 1 hit
PfamiView protein in Pfam
PF06963 FPN1, 1 hit
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)DescriptionActionsGraphical viewLength
Sequence conflicti130 – 133TSCY → VSSQ in AAQ13603 (Ref. 10) Curated4
Sequence conflicti324F → S in AAH35893 (PubMed:15489334).Curated1
Sequence conflicti430 – 431IY → RD in AAF80986 (PubMed:10747949).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03005764Y → N in HFE4. 1 Publication1
Natural variantiVAR_02259477A → D in HFE4. 2 PublicationsCorresponds to variant dbSNP:rs28939076EnsemblClinVar.1
Natural variantiVAR_03005880G → S in iron overload. 1 PublicationCorresponds to variant dbSNP:rs978427853Ensembl.1
Natural variantiVAR_03005980G → V in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893673EnsemblClinVar.1
Natural variantiVAR_030060144N → D in HFE4. 1 Publication1
Natural variantiVAR_022595144N → H in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893662EnsemblClinVar.1
Natural variantiVAR_030061144N → T in HFE4. 1 Publication1
Natural variantiVAR_022596157D → G in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893663EnsemblClinVar.1
Natural variantiVAR_022597162Missing in HFE4. 4 Publications1
Natural variantiVAR_030062174N → I in iron overload. 1 Publication1
Natural variantiVAR_030063181D → V in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893672EnsemblClinVar.1
Natural variantiVAR_022598182Q → H in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893670EnsemblClinVar.1
Natural variantiVAR_020295248Q → H Common polymorphism associated with mild anemia and a tendency to iron loading. 1 PublicationCorresponds to variant dbSNP:rs11568350EnsemblClinVar.1
Natural variantiVAR_030064267G → D in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893664EnsemblClinVar.1
Natural variantiVAR_030065270D → V in HFE4. 2 PublicationsCorresponds to variant dbSNP:rs368420430EnsemblClinVar.1
Natural variantiVAR_022599323G → V in HFE4. 1 PublicationCorresponds to variant dbSNP:rs104893671EnsemblClinVar.1
Natural variantiVAR_030066326C → Y in iron overload. 1 Publication1
Natural variantiVAR_020296432M → V. Corresponds to variant dbSNP:rs11568355Ensembl.1
Natural variantiVAR_029299443P → L. Corresponds to variant dbSNP:rs45606432Ensembl.1
Natural variantiVAR_030067490G → D in iron overload. 1 PublicationCorresponds to variant dbSNP:rs1060501102Ensembl.1
Natural variantiVAR_018980561R → G. Corresponds to variant dbSNP:rs11568346EnsemblClinVar.1

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.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS40A1_HUMAN
AccessioniPrimary (citable) accession number: Q9NP59
Secondary accession number(s): Q6FI62
, Q7Z4F8, Q8IVB2, Q9NRL0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: October 1, 2000
Last modified: July 18, 2018
This is version 156 of the entry and version 1 of the sequence. See 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

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