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Aliases for SLC40A1 Gene

Aliases for SLC40A1 Gene

  • Solute Carrier Family 40 Member 1 2 3
  • Solute Carrier Family 40 (Iron-Regulated Transporter), Member 1 2 3 5
  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters), Member 3 2 3
  • SLC11A3 3 4
  • IREG1 3 4
  • FPN1 3 4
  • Iron-Regulated Transporter 1 4
  • Iron Regulated Gene 1 3
  • Ferroportin 1 2
  • Ferroportin-1 4
  • MSTP079 3
  • MST079 3
  • HFE4 3
  • MTP1 3

External Ids for SLC40A1 Gene

Previous HGNC Symbols for SLC40A1 Gene

  • SLC11A3

Previous GeneCards Identifiers for SLC40A1 Gene

  • GC02M190389
  • GC02M190627
  • GC02M190250
  • GC02M190133
  • GC02M182284

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 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

Regulatory Elements for SLC40A1 Gene

Enhancers for SLC40A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC40A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC40A1 Gene

Chromosome:
2
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

Genes around SLC40A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC40A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC40A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 174, Asn 434, and Asn 567
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC40A1 Gene

Antibody Products

No data available for DME Specific Peptides for SLC40A1 Gene

Domains & Families for SLC40A1 Gene

Gene Families for SLC40A1 Gene

Protein Domains for SLC40A1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NP59

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for SLC40A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC40A1 Gene

MGI Knock Outs for SLC40A1:

Animal Model Products

miRNA for SLC40A1 Gene

miRTarBase miRNAs that target SLC40A1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 3
cytosol 2
extracellular 2
lysosome 1
mitochondrion 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:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with SLC40A1: view

Pathways & Interactions 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:0006879 cellular iron ion homeostasis TAS --
GO:0055072 iron ion homeostasis IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC40A1: view

No data available for SIGNOR curated interactions for SLC40A1 Gene

Drugs & Compounds for SLC40A1 Gene

(4) Drugs for SLC40A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SLC40A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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 (x9.7) and Spleen (x4.0).

Protein differential expression in normal tissues from HIPED for SLC40A1 Gene

This gene is overexpressed in Placenta (51.2) and Fetal Liver (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC40A1: view

Protein tissue co-expression partners for SLC40A1 Gene

Primer Products

Orthologs for SLC40A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC40A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC40A1 35
  • 90.06 (n)
  • 90.53 (a)
SLC40A1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC40A1 35
  • 89.84 (n)
  • 92.29 (a)
SLC40A1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc40a1 35
  • 87.77 (n)
  • 91.36 (a)
Slc40a1 16
Slc40a1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC40A1 35
  • 99.82 (n)
  • 100 (a)
SLC40A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc40a1 35
  • 86.94 (n)
  • 90.51 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC40A1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC40A1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC40A1 35
  • 76 (n)
  • 80.14 (a)
SLC40A1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC40A1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc40a1 35
  • 70.42 (n)
  • 76.58 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
slc40a1 35
  • 69.05 (n)
  • 73.12 (a)
slc40a1 36
  • 68 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fpn-1.1 36
  • 29 (a)
OneToMany
fpn-1.2 36
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons IREG2 35
  • 45.43 (n)
  • 35.15 (a)
rice
(Oryza sativa)
Liliopsida Os06g0560000 35
  • 45.77 (n)
  • 36.15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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
rs11568346 - 189,561,913(-) AAGTT(A/G)GGAAG reference, missense
rs11568350 - 189,565,370(-) AAACA(G/T)CTGAA reference, missense
rs11568355 - 189,563,692(-) TATAC(A/C/G)TGTCT reference, missense
VAR_022594 Hemochromatosis 4 (HFE4)
VAR_022595 Hemochromatosis 4 (HFE4)

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

Variation tolerance for SLC40A1 Gene

Residual Variation Intolerance Score: 60.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC40A1 Gene

Human Gene Mutation Database (HGMD)
SLC40A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC40A1 Gene

Disorders for SLC40A1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SLC40A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemochromatosis, type 4
  • hemochromatosis type 4
slc40a1-related hereditary hemochromatosis
  • hemochromatosis, type 4
hemochromatosis
  • hfe hemochromatosis, modifier of
siderosis
  • pulmonary siderosis
iron metabolism disease
  • disorder of iron metabolism
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC40A1

Genetic Association Database (GAD)
SLC40A1
Human Genome Epidemiology (HuGE) Navigator
SLC40A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC40A1
genes like me logo Genes that share disorders with SLC40A1: view

No data available for Genatlas for SLC40A1 Gene

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 48 67
  2. Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. (PMID: 19937651) Griffiths W.J. … Cox T.M. (Hepatology 2010) 3 23
  3. Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? (PMID: 18820912) AltA"s A. … Baiget M. (Ann. Hematol. 2009) 3 23
  4. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. (PMID: 19787796) Barton J.C. … Eckfeldt J.H. (Am. J. Hematol. 2009) 3 23
  5. DNA-array of gene variants in venous leg ulcers: detection of prognostic indicators. (PMID: 19958990) Gemmati D. … Zamboni P. (J. Vasc. Surg. 2009) 3 23

Products for SLC40A1 Gene

Sources for SLC40A1 Gene

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