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Aliases for SLC40A1 Gene

Aliases for SLC40A1 Gene

  • Solute Carrier Family 40 (Iron-Regulated Transporter), Member 1 2 3
  • SLC11A3 3 4 6
  • IREG1 3 4 6
  • FPN1 3 4 6
  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters), Member 3 2 3
  • HFE4 3 6
  • Putative Ferroportin 1 Variant IIIA 3
  • Putative Ferroportin 1 Variant IIIB 3
  • Solute Carrier Family 40 Member 1 3
  • Iron-Regulated Transporter 1 4
  • Iron Regulated Gene 1 3
  • Ferroportin 1 2
  • Ferroportin-1 4
  • MSTP079 3
  • MST079 3
  • MTP1 3

External Ids for SLC40A1 Gene

Previous Symbols for SLC40A1 Gene

  • SLC11A3

Summaries for SLC40A1 Gene

Entrez Gene Summary for SLC40A1 Gene

  • The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC40A1 Gene

SLC40A1 (Solute Carrier Family 40 (Iron-Regulated Transporter), Member 1) is a Protein Coding gene. Diseases associated with SLC40A1 include hemochromatosis, type 4 and slc40a1-related hereditary hemochromatosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Mineral absorption. GO annotations related to this gene include iron ion transmembrane transporter activity.

UniProtKB/Swiss-Prot for SLC40A1 Gene

  • 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)

Gene Wiki entry for SLC40A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC40A1 Gene

Genomics for SLC40A1 Gene

Genomic Location for SLC40A1 Gene

Start:
189,560,579 bp from pter
End:
189,583,758 bp from pter
Size:
23,180 bases
Orientation:
Minus strand

Genomic View for SLC40A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC40A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC40A1 Gene

Regulatory Elements for SLC40A1 Gene

Proteins for SLC40A1 Gene

  • Protein details for SLC40A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP59-S40A1_HUMAN
    Recommended name:
    Solute carrier family 40 member 1
    Protein Accession:
    Q9NP59
    Secondary Accessions:
    • Q6FI62
    • Q7Z4F8
    • Q8IVB2
    • Q9NRL0

    Protein attributes for SLC40A1 Gene

    Size:
    571 amino acids
    Molecular mass:
    62542 Da
    Quaternary structure:
    • Identified in a complex with STOM.

neXtProt entry for SLC40A1 Gene

Proteomics data for SLC40A1 Gene at MOPED

Post-translational modifications for SLC40A1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn174, Asn434, and Asn567

Other Protein References for SLC40A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC40A1 Gene

Domains for SLC40A1 Gene

Gene Families for SLC40A1 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC40A1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

S40A1_HUMAN
Family:
  • Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily.:
    • Q9NP59
genes like me logo Genes that share domains with SLC40A1: view

Function for SLC40A1 Gene

Molecular function for SLC40A1 Gene

UniProtKB/Swiss-Prot Function: 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)

Gene Ontology (GO) - Molecular Function for SLC40A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005381 iron ion transmembrane transporter activity IMP 12091367
GO:0005515 protein binding IPI 20817278
genes like me logo Genes that share ontologies with SLC40A1: view
genes like me logo Genes that share phenotypes with SLC40A1: view

Animal Models for SLC40A1 Gene

MGI Knock Outs for SLC40A1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC40A1 Gene

Localization for SLC40A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC40A1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC40A1 Gene COMPARTMENTS Subcellular localization image for SLC40A1 gene
Compartment Confidence
plasma membrane 5
endosome 2
extracellular 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SLC40A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 20019163
GO:0005737 cytoplasm TAS 10747949
GO:0005771 multivesicular body IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IC 12091367
genes like me logo Genes that share ontologies with SLC40A1: view

Pathways for SLC40A1 Gene

genes like me logo Genes that share pathways with SLC40A1: view

Gene Ontology (GO) - Biological Process for SLC40A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002260 lymphocyte homeostasis IEA --
GO:0003158 endothelium development IEA --
GO:0006826 iron ion transport --
GO:0006879 cellular iron ion homeostasis TAS --
GO:0009653 anatomical structure morphogenesis TAS 10693807
genes like me logo Genes that share ontologies with SLC40A1: view

Compounds for SLC40A1 Gene

(1) HMDB Compounds for SLC40A1 Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6

(5) Novoseek inferred chemical compound relationships for SLC40A1 Gene

Compound -log(P) Hits PubMed IDs
iron 84.7 196
deferoxamine 28.7 3
copper 23.7 12
fe2+ 15 1
zinc 0 2
genes like me logo Genes that share compounds with SLC40A1: view

Transcripts for SLC40A1 Gene

Unigene Clusters for SLC40A1 Gene

Solute carrier family 40 (iron-regulated transporter), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC40A1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: - - -
SP2: - - - -
SP3:
SP4:
SP5: -

Relevant External Links for SLC40A1 Gene

GeneLoc Exon Structure for
SLC40A1
ECgene alternative splicing isoforms for
SLC40A1

Expression for SLC40A1 Gene

mRNA expression in normal human tissues for SLC40A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC40A1 Gene

This gene is overexpressed in Adrenal Gland (9.7) and Spleen (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC40A1 Gene

SOURCE GeneReport for Unigene cluster for SLC40A1 Gene Hs.643005

mRNA Expression by UniProt/SwissProt for SLC40A1 Gene

Q9NP59-S40A1_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level). Expressed in placenta, intestine, muscle and spleen.
genes like me logo Genes that share expressions with SLC40A1: view

Orthologs for SLC40A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC40A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC40A1 36
  • 99.82 (n)
  • 100 (a)
SLC40A1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC40A1 36
  • 90.06 (n)
  • 90.53 (a)
SLC40A1 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC40A1 36
  • 89.84 (n)
  • 92.29 (a)
SLC40A1 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc40a1 36
  • 87.77 (n)
  • 91.36 (a)
Slc40a1 16
Slc40a1 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC40A1 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC40A1 37
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc40a1 36
  • 86.94 (n)
  • 90.51 (a)
chicken
(Gallus gallus)
Aves SLC40A1 36
  • 76 (n)
  • 80.14 (a)
SLC40A1 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC40A1 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc40a1 36
  • 70.42 (n)
  • 76.58 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
slc40a1 36
  • 69.05 (n)
  • 73.12 (a)
slc40a1 37
  • 68 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fpn-1.1 37
  • 29 (a)
OneToMany
fpn-1.2 37
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons IREG2 36
  • 45.43 (n)
  • 35.15 (a)
rice
(Oryza sativa)
Liliopsida Os06g0560000 36
  • 45.77 (n)
  • 36.15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToOne
Species with no ortholog for SLC40A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC40A1 Gene

ENSEMBL:
Gene Tree for SLC40A1 (if available)
TreeFam:
Gene Tree for SLC40A1 (if available)

Paralogs for SLC40A1 Gene

Selected SIMAP similar genes for SLC40A1 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for SLC40A1 Gene

genes like me logo Genes that share paralogs with SLC40A1: view

No data available for Paralogs for SLC40A1 Gene

Variants for SLC40A1 Gene

Sequence variations from dbSNP and Humsavar for SLC40A1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs746863 -- 189,569,985(+) ATATA(C/T)ACACC intron-variant
rs930373 -- 189,578,857(+) AAAGG(C/T)ATTGG intron-variant
rs987028 -- 189,583,321(-) AAAAG(A/G)CAACT intron-variant
rs994226 -- 189,567,446(+) aacat(C/G)actat intron-variant
rs994227 -- 189,567,741(+) TATAT(C/T)GCATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC40A1 Gene

Variant ID Type Subtype PubMed ID
nsv875615 CNV Gain 21882294
nsv483013 CNV Gain 15286789

Relevant External Links for SLC40A1 Gene

HapMap Linkage Disequilibrium report
SLC40A1
Human Gene Mutation Database (HGMD)
SLC40A1

Disorders for SLC40A1 Gene

(1) OMIM Diseases for SLC40A1 Gene (604653)

UniProtKB/Swiss-Prot

S40A1_HUMAN
  • 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. {ECO:0000269 PubMed:10747949, ECO:0000269 PubMed:11431687, ECO:0000269 PubMed:11518736, ECO:0000269 PubMed:12091366, ECO:0000269 PubMed:12091367, ECO:0000269 PubMed:12123233, ECO:0000269 PubMed:12406098, ECO:0000269 PubMed:12730114, ECO:0000269 PubMed:12857562, ECO:0000269 PubMed:12865285, ECO:0000269 PubMed:15338274, ECO:0000269 PubMed:15466004, ECO:0000269 PubMed:16351644}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SLC40A1 Gene

(12) Novoseek inferred disease relationships for SLC40A1 Gene

Disease -log(P) Hits PubMed IDs
hemochromatosis, autosomal dominant 95.6 5
hemochromatosis 90.9 21
iron overload 90.9 32
hereditary hemochromatosis 86 6
hemochromatosis, juvenile 85.1 2

Relevant External Links for SLC40A1

Genetic Association Database (GAD)
SLC40A1
Human Genome Epidemiology (HuGE) Navigator
SLC40A1
genes like me logo Genes that share disorders with SLC40A1: view

Publications for SLC40A1 Gene

  1. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. (PMID: 11518736) Montosi G. … Pietrangelo A. (J. Clin. Invest. 2001) 3 4 23 49
  2. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. (PMID: 10882071) McKie A.T. … Simpson R.J. (Mol. Cell 2000) 3 4 23
  3. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. (PMID: 11431687) Njajou O.T. … Heutink P. (Nat. Genet. 2001) 3 4 23
  4. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). (PMID: 12406098) Cazzola M. … Christakis J. (Br. J. Haematol. 2002) 3 4 23
  5. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (SLC11A3) mutations. (PMID: 12730114) Hetet G. … Beaumont C. (Blood 2003) 3 4 23

Products for SLC40A1 Gene

Sources for SLC40A1 Gene

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