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Entry version 168 (13 Nov 2019)
Sequence version 1 (01 Oct 2000)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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).

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Iron transport, Transport
LigandIron

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-425410 Metal ion SLC transporters
R-HSA-5619049 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
R-HSA-5619060 Defective CP causes aceruloplasminemia (ACERULOP)
R-HSA-5655799 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
R-HSA-917937 Iron uptake and transport

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Solute carrier family 40 member 1
Alternative name(s):
Ferroportin-1
Iron-regulated transporter 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC40A1
Synonyms:FPN1, IREG1, SLC11A3
ORF Names:MSTP079
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10909 SLC40A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604653 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NP59

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03005764Y → N in HFE4. 1 PublicationCorresponds to variant dbSNP:rs1285653301Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1434101655Ensembl.1
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

DisGeNET

More...
DisGeNETi
30061

MalaCards human disease database

More...
MalaCardsi
SLC40A1
MIMi606069 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138449

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
139491 Hemochromatosis type 4

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35805

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NP59

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3392948

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC40A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
48428687

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001913101 – 571Solute carrier family 40 member 1Add BLAST571

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi434N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi567N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NP59

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NP59

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NP59

PeptideAtlas

More...
PeptideAtlasi
Q9NP59

PRoteomics IDEntifications database

More...
PRIDEi
Q9NP59

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
81890

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NP59

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NP59

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138449 Expressed in 209 organ(s), highest expression level in epithelium of mammary gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NP59 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NP59 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA065634

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Identified in a complex with STOM.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
P050675EBI-725153,EBI-77613

GO - Molecular functioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q9NP59, 8 interactors

Molecular INTeraction database

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MINTi
Q9NP59

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261024

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9NP59

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2601 Eukaryota
ENOG410XS3F LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000015143

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234273

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NP59

KEGG Orthology (KO)

More...
KOi
K14685

Identification of Orthologs from Complete Genome Data

More...
OMAi
GEKDPNI

Database of Orthologous Groups

More...
OrthoDBi
334057at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NP59

TreeFam database of animal gene trees

More...
TreeFami
TF313463

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009716 Ferroportin-1
IPR036259 MFS_trans_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11660 PTHR11660, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06963 FPN1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE4D6B5594C904959
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ES28E7ES28_HUMAN
Solute carrier family 40 protein
SLC40A1
200Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EQF8E7EQF8_HUMAN
Solute carrier family 40 protein
SLC40A1
55Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q4PNE6Q4PNE6_HUMAN
Ferroportin 1 variant IIB
SLC40A1
25Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1285653301Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1434101655Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1397119020Ensembl.1
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:rs1060501102EnsemblClinVar.1
Natural variantiVAR_018980561R → G. Corresponds to variant dbSNP:rs11568346EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS2299.1

NCBI Reference Sequences

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RefSeqi
NP_055400.1, NM_014585.5

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000261024; ENSP00000261024; ENSG00000138449

Database of genes from NCBI RefSeq genomes

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GeneIDi
30061

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:30061

UCSC genome browser

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UCSCi
uc002uqp.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ9NP59, 8 interactors
MINTiQ9NP59
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

jPOSTiQ9NP59
MassIVEiQ9NP59
PaxDbiQ9NP59
PeptideAtlasiQ9NP59
PRIDEiQ9NP59
ProteomicsDBi81890

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
Q9NP59

The DNASU plasmid repository

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DNASUi
30061

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
30061
DisGeNETi30061

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC40A1
HGNCiHGNC:10909 SLC40A1
HPAiHPA065634
MalaCardsiSLC40A1
MIMi604653 gene
606069 phenotype
neXtProtiNX_Q9NP59
OpenTargetsiENSG00000138449
Orphaneti139491 Hemochromatosis type 4
PharmGKBiPA35805

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2601 Eukaryota
ENOG410XS3F LUCA
GeneTreeiENSGT00390000015143
HOGENOMiHOG000234273
InParanoidiQ9NP59
KOiK14685
OMAiGEKDPNI
OrthoDBi334057at2759
PhylomeDBiQ9NP59
TreeFamiTF313463

Enzyme and pathway databases

ReactomeiR-HSA-425410 Metal ion SLC transporters
R-HSA-5619049 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
R-HSA-5619060 Defective CP causes aceruloplasminemia (ACERULOP)
R-HSA-5655799 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
R-HSA-917937 Iron uptake and transport

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SLC40A1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Ferroportin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
30061
PharosiQ9NP59

Protein Ontology

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PROi
PR:Q9NP59

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138449 Expressed in 209 organ(s), highest expression level in epithelium of mammary gland
ExpressionAtlasiQ9NP59 baseline and differential
GenevisibleiQ9NP59 HS

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, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS40A1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NP59
Secondary accession number(s): Q6FI62
, Q7Z4F8, Q8IVB2, Q9NRL0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: October 1, 2000
Last modified: November 13, 2019
This is version 168 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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