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Aliases for SLC40A1 Gene

Aliases for SLC40A1 Gene

  • Solute Carrier Family 40 Member 1 2 3 5
  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters), Member 3 2 3
  • Solute Carrier Family 40 (Iron-Regulated Transporter), Member 1 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 Hemochromatosis, Type 1. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metal ion SLC transporters. Gene Ontology (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

Additional gene information for SLC40A1 Gene

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

Genomics for SLC40A1 Gene

GeneHancer (GH) Regulatory Elements for SLC40A1 Gene

Promoters and enhancers for SLC40A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I189573 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 559.6 +4.0 4034 11.5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B SLC40A1 HNRNPCP2 ORMDL1 NEMP2 ASNSD1 LOC100420666
GH02I189551 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.7 +26.5 26525 11.4 PKNOX1 FOXA2 SIN3A ETS1 YY1 FOS RXRA REST PPARG NFIL3 SLC40A1 COL5A2 LOC100420666
GH02I189608 Enhancer 0.9 Ensembl ENCODE 11.7 -25.3 -25348 2.1 HDAC1 MEIS2 FOXA2 TEAD4 TAL1 ZSCAN4 CEBPG NR2F6 FOS SOX6 SLC40A1 ENSG00000276828
GH02I189520 Enhancer 1.3 Ensembl ENCODE dbSUPER 5.1 +60.8 60790 4.1 FOXA2 MLX ARID4B YY1 TCF12 RXRA REST NFIL3 HMBOX1 HNF4A SLC40A1 ANKAR LOC100420666
GH02I189505 Enhancer 1.3 Ensembl ENCODE dbSUPER 4.9 +77.5 77518 2.4 PKNOX1 ATF1 ARNT ARID4B TCF12 ZNF766 GATA2 FOS ATF7 NCOA1 SLC40A1 LOC100420666
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC40A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC40A1 gene promoter:

Genomic Locations for SLC40A1 Gene

Genomic Locations for SLC40A1 Gene
chr2:189,560,579-189,583,758
(GRCh38/hg38)
Size:
23,180 bases
Orientation:
Minus strand
chr2:190,425,305-190,448,484
(GRCh37/hg19)

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

Post-translational modifications for SLC40A1 Gene

  • Glycosylation at posLast=174174, posLast=434434, and isoforms=567

Other Protein References for SLC40A1 Gene

No data available for DME Specific Peptides for SLC40A1 Gene

Domains & Families for SLC40A1 Gene

Gene Families for SLC40A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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).

Phenotypes From GWAS Catalog for SLC40A1 Gene

Gene Ontology (GO) - Molecular Function for SLC40A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA,ISS --
GO:0005381 iron ion transmembrane transporter activity IEA,IMP 12091367
GO:0005515 protein binding IPI 20817278
GO:0015093 ferrous iron transmembrane transporter activity IEA,ISS --
GO:0017046 peptide hormone binding IEA,IPI 22682227
genes like me logo Genes that share ontologies with SLC40A1: view
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

CRISPR Products

miRNA for SLC40A1 Gene

miRTarBase miRNAs that target SLC40A1

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for SLC40A1 (Ferroportin/SLC40A1)

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC40A1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
extracellular 2
mitochondrion 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC40A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 20019163
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 10747949
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006826 iron ion transport IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for SLC40A1 (Ferroportin/SLC40A1)

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SLC40A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC40A1 Gene:

SLC40A1

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.

Evidence on tissue expression from TISSUES for SLC40A1 Gene

  • Blood(4.5)
  • Liver(3.9)
  • Muscle(3.8)
  • Nervous system(3.6)
  • Stomach(3.3)
  • Spleen(3.2)
  • Intestine(3.1)
  • Lung(2.8)
  • Kidney(2.5)
  • Adrenal gland(2.2)
  • Heart(2.2)
  • Gall bladder(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC40A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • skeleton
Regions:
Abdomen:
  • liver
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with SLC40A1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SLC40A1 33 34
  • 99.82 (n)
cow
(Bos Taurus)
Mammalia SLC40A1 33 34
  • 90.06 (n)
dog
(Canis familiaris)
Mammalia SLC40A1 33 34
  • 89.84 (n)
mouse
(Mus musculus)
Mammalia Slc40a1 33 16 34
  • 87.77 (n)
rat
(Rattus norvegicus)
Mammalia Slc40a1 33
  • 86.94 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC40A1 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC40A1 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC40A1 33 34
  • 76 (n)
lizard
(Anolis carolinensis)
Reptilia SLC40A1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc40a1 33
  • 70.42 (n)
zebrafish
(Danio rerio)
Actinopterygii slc40a1 33 34
  • 69.05 (n)
-- 33
worm
(Caenorhabditis elegans)
Secernentea fpn-1.1 34
  • 29 (a)
OneToMany
fpn-1.2 34
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons IREG2 33
  • 45.43 (n)
rice
(Oryza sativa)
Liliopsida Os06g0560000 33
  • 45.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Species where no ortholog for SLC40A1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1019035409 uncertain-significance, Hereditary hemochromatosis 189,580,713(-) G/T 5_prime_UTR_variant
rs104893662 uncertain-significance, pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] 189,571,799(-) T/A/G coding_sequence_variant, missense_variant
rs104893663 pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] 189,571,759(-) T/A/C coding_sequence_variant, missense_variant
rs104893664 pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] 189,564,186(-) C/T coding_sequence_variant, missense_variant
rs104893670 pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] 189,565,568(-) C/A/T coding_sequence_variant, missense_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv954448 CNV duplication 24416366

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)

Additional Variant Information for SLC40A1 Gene

Human Gene Mutation Database (HGMD)
SLC40A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC40A1

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

Disorders for SLC40A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemochromatosis, type 4
  • hfe4
hemochromatosis, type 1
  • hfe1
siderosis
  • pulmonary siderosis
iron metabolism disease
  • disorder of iron metabolism
hemosiderosis
  • haemosiderosis
- 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.

Additional Disease Information for SLC40A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of clinical investigation 2001) 3 4 22 44 58
  2. Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? (PMID: 18820912) Altès A … Baiget M (Annals of hematology 2009) 3 22 44 58
  3. DNA-array of gene variants in venous leg ulcers: detection of prognostic indicators. (PMID: 19958990) Gemmati D … Zamboni P (Journal of vascular surgery 2009) 3 22 44 58
  4. H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload? (PMID: 17042772) de Diego C … Martínez-Castro P (European journal of haematology 2007) 3 22 44 58
  5. Genetic and clinical heterogeneity of ferroportin disease. (PMID: 16351644) Cremonesi L … Cazzola M (British journal of haematology 2005) 3 4 22 58

Products for SLC40A1 Gene

Sources for SLC40A1 Gene

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