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Protein

Solute carrier family 40 member 1

Gene

SLC40A1

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

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ion transport, Iron transport, Transport

Keywords - Ligandi

Iron

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138449-MONOMER.
ReactomeiR-HSA-425410. Metal ion SLC transporters.
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

HGNCiHGNC:10909. SLC40A1.

Subcellular locationi

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

GO - Cellular componenti

  • basolateral plasma membrane Source: UniProtKB
  • cytoplasm Source: ProtInc
  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: BHF-UCL
  • intracellular Source: UniProtKB
  • multivesicular body Source: Ensembl
  • plasma membrane Source: UniProtKB
  • synaptic vesicle Source: Ensembl
Complete GO annotation...

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 rs28939076dbSNPEnsembl.1
Natural variantiVAR_03005980G → V in HFE4. 1 PublicationCorresponds to variant rs104893673dbSNPEnsembl.1
Natural variantiVAR_030060144N → D in HFE4. 1 Publication1
Natural variantiVAR_022595144N → H in HFE4. 1 PublicationCorresponds to variant rs104893662dbSNPEnsembl.1
Natural variantiVAR_030061144N → T in HFE4. 1 Publication1
Natural variantiVAR_022596157D → G in HFE4. 1 PublicationCorresponds to variant rs104893663dbSNPEnsembl.1
Natural variantiVAR_022597162Missing in HFE4. 4 Publications1
Natural variantiVAR_030063181D → V in HFE4. 1 PublicationCorresponds to variant rs104893672dbSNPEnsembl.1
Natural variantiVAR_022598182Q → H in HFE4. 1 PublicationCorresponds to variant rs104893670dbSNPEnsembl.1
Natural variantiVAR_030064267G → D in HFE4. 1 PublicationCorresponds to variant rs104893664dbSNPEnsembl.1
Natural variantiVAR_030065270D → V in HFE4. 2 PublicationsCorresponds to variant rs368420430dbSNPEnsembl.1
Natural variantiVAR_022599323G → V in HFE4. 1 PublicationCorresponds to variant rs104893671dbSNPEnsembl.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...)Sequence analysis1
Glycosylationi434N-linked (GlcNAc...)Sequence analysis1
Glycosylationi567N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NP59.
PeptideAtlasiQ9NP59.
PRIDEiQ9NP59.

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

Protein-protein interaction databases

IntActiQ9NP59. 5 interactors.
MINTiMINT-1404238.
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.
OMAiCLTLCVI.
OrthoDBiEOG091G06RI.
PhylomeDBiQ9NP59.
TreeFamiTF313463.

Family and domain databases

InterProiIPR009716. Ferroportin-1.
IPR020846. MFS_dom.
[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)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 rs28939076dbSNPEnsembl.1
Natural variantiVAR_03005880G → S in iron overload. 1 Publication1
Natural variantiVAR_03005980G → V in HFE4. 1 PublicationCorresponds to variant rs104893673dbSNPEnsembl.1
Natural variantiVAR_030060144N → D in HFE4. 1 Publication1
Natural variantiVAR_022595144N → H in HFE4. 1 PublicationCorresponds to variant rs104893662dbSNPEnsembl.1
Natural variantiVAR_030061144N → T in HFE4. 1 Publication1
Natural variantiVAR_022596157D → G in HFE4. 1 PublicationCorresponds to variant rs104893663dbSNPEnsembl.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 rs104893672dbSNPEnsembl.1
Natural variantiVAR_022598182Q → H in HFE4. 1 PublicationCorresponds to variant rs104893670dbSNPEnsembl.1
Natural variantiVAR_020295248Q → H Common polymorphism associated with mild anemia and a tendency to iron loading. 1 PublicationCorresponds to variant rs11568350dbSNPEnsembl.1
Natural variantiVAR_030064267G → D in HFE4. 1 PublicationCorresponds to variant rs104893664dbSNPEnsembl.1
Natural variantiVAR_030065270D → V in HFE4. 2 PublicationsCorresponds to variant rs368420430dbSNPEnsembl.1
Natural variantiVAR_022599323G → V in HFE4. 1 PublicationCorresponds to variant rs104893671dbSNPEnsembl.1
Natural variantiVAR_030066326C → Y in iron overload. 1 Publication1
Natural variantiVAR_020296432M → V.Corresponds to variant rs11568355dbSNPEnsembl.1
Natural variantiVAR_029299443P → L.Corresponds to variant rs45606432dbSNPEnsembl.1
Natural variantiVAR_030067490G → D in iron overload. 1 Publication1
Natural variantiVAR_018980561R → G.Corresponds to variant rs11568346dbSNPEnsembl.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

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.
CCDSiCCDS2299.1.
RefSeqiNP_055400.1. NM_014585.5.
UniGeneiHs.643005.

3D structure databases

ProteinModelPortaliQ9NP59.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9NP59. 5 interactors.
MINTiMINT-1404238.
STRINGi9606.ENSP00000261024.

Chemistry databases

BindingDBiQ9NP59.
ChEMBLiCHEMBL3392948.

Protein family/group databases

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

PTM databases

iPTMnetiQ9NP59.
PhosphoSitePlusiQ9NP59.

Polymorphism and mutation databases

BioMutaiSLC40A1.
DMDMi48428687.

Proteomic databases

PaxDbiQ9NP59.
PeptideAtlasiQ9NP59.
PRIDEiQ9NP59.

Protocols and materials databases

DNASUi30061.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261024; ENSP00000261024; ENSG00000138449.
GeneIDi30061.
KEGGihsa:30061.
UCSCiuc002uqp.5. human.

Organism-specific databases

CTDi30061.
DisGeNETi30061.
GeneCardsiSLC40A1.
HGNCiHGNC:10909. SLC40A1.
HPAiHPA065634.
MalaCardsiSLC40A1.
MIMi604653. gene.
606069. phenotype.
neXtProtiNX_Q9NP59.
OpenTargetsiENSG00000138449.
Orphaneti139491. Hemochromatosis type 4.
PharmGKBiPA35805.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138449-MONOMER.
ReactomeiR-HSA-425410. Metal ion SLC transporters.
R-HSA-917937. Iron uptake and transport.

Miscellaneous databases

ChiTaRSiSLC40A1. human.
GeneWikiiFerroportin.
GenomeRNAii30061.
PROiQ9NP59.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138449.
CleanExiHS_SLC40A1.
ExpressionAtlasiQ9NP59. baseline and differential.
GenevisibleiQ9NP59. HS.

Family and domain databases

InterProiIPR009716. Ferroportin-1.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF06963. FPN1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 3 hits.
ProtoNetiSearch...

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 30, 2016
This is version 142 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.