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SLC40A1 Gene

protein-coding   GIFtS: 62
GCID: GC02M190389

Solute Carrier Family 40 (Iron-Regulated Transporter), Member...

(Previous names: solute carrier family 11 (proton-coupled divalent metal...)
(Previous symbol: SLC11A3)
  See SLC40A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 40 (Iron-Regulated Transporter), Member 11 2     MTP12
SLC11A31 2 3 5     Iron Regulated Gene 12
FPN12 3 5     Putative Ferroportin 1 Variant IIIA2
IREG12 3 5     Putative Ferroportin 1 Variant IIIB2
Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters),
Member 31 2
     Solute Carrier Family 40 Member 12
HFE42 5     Ferroportin-13
Ferroportin 11     Iron-Regulated Transporter 13
MST0792     

External Ids:    HGNC: 109091   Entrez Gene: 300612   Ensembl: ENSG000001384497   OMIM: 6046535   UniProtKB: Q9NP593   

Export aliases for SLC40A1 gene to outside databases

Previous GC identifers: GC02M190627 GC02M190250 GC02M190133 GC02M182284


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include iron ion transmembrane transporter activity.

UniProtKB/Swiss-Prot: S40A1_HUMAN, Q9NP59
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 Wiki entry for SLC40A1 (Ferroportin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC40A1 gene promoter:
         E2F-4   E2F-3a   E2F-5   GATA-3   E2F-2   GATA-2   GATA-1   AREB6   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC40A1 promoter sequence
   Search Chromatin IP Primers for SLC40A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC40A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q32   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q32

SLC40A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC40A1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M190389:  view genomic region     (about GC identifiers)

Start:
190,425,305 bp from pter      End:
190,448,484 bp from pter
Size:
23,180 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S40A1_HUMAN, Q9NP59 (See protein sequence)
Recommended Name: Solute carrier family 40 member 1  
Size: 571 amino acids; 62542 Da
Secondary accessions: Q6FI62 Q7Z4F8 Q8IVB2 Q9NRL0

Explore the universe of human proteins at neXtProt for SLC40A1: NX_Q9NP59

Explore proteomics data for SLC40A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn174, Asn434, Asn567
  • Modification sites at PhosphoSitePlus

  • See SLC40A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055400.1  
    ENSEMBL proteins: 
     ENSP00000261024   ENSP00000390005   ENSP00000413549   ENSP00000392730   ENSP00000396134  
    Reactome Protein details: Q9NP59

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Iron-regulated transporter
    SLC40 iron transporter

    2 InterPro protein domains:
     IPR009716 Ferroportin-1
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9NP59

    ProtoNet protein and cluster: Q9NP59

    1 Blocks protein domain: IPB009716 Ferroportin1

    UniProtKB/Swiss-Prot: S40A1_HUMAN, Q9NP59
    Similarity: Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily


    Find genes that share domains with SLC40A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S40A1_HUMAN, Q9NP59
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005381iron ion transmembrane transporter activity IMP12091367
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with SLC40A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC40A1:
     Increased G1 DNA content 

         13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Slc40a1):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  vision/eye 

    Find genes that share phenotypes with SLC40A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc40a1tm1Nca for SLC40A1

       genOway: Develop your customized and physiologically relevant rodent model for SLC40A1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S40A1_HUMAN, Q9NP59: Cell membrane; Multi-pass membrane protein. Note=Localized to the basolateral membrane of
    polarized epithelial cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome2
    extracellular2
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10747949
    GO:0005771multivesicular body IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IC12091367
    GO:0008021synaptic vesicle IEA--

    Find genes that share ontologies with SLC40A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC40A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    2Insulin receptor recycling
    Iron uptake and transport0.70
    3Mineral absorption
    Mineral absorption
    4Metal ion SLC transporters
    Metal ion SLC transporters
    5Iron metabolism in placenta
    Iron metabolism in placenta


    Find genes that share SuperPaths with SLC40A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC40A1
        Iron metabolism in placenta


    2 Reactome Pathways for SLC40A1
        Iron uptake and transport
    Metal ion SLC transporters


    1 Kegg Pathway  (Kegg details for SLC40A1):
        Mineral absorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC40A1
    Interactions:

        GeneGlobe Interaction Network for SLC40A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for SLC40A1 (Q9NP591, 2, 3 ENSP000002610244) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 3, ENSP000002849814EBI-725153,EBI-77613 I2D: score=2 STRING: ENSP00000284981
    GOLM1Q8NBJ42, 3, ENSP000003733634MINT-64981 I2D: score=4 STRING: ENSP00000373363
    KCNAB1Q147223, ENSP000004199524I2D: score=1 STRING: ENSP00000419952
    PRKCZQ055133, ENSP000003678304I2D: score=1 STRING: ENSP00000367830
    SQSTM1Q135013, ENSP000003744554I2D: score=1 STRING: ENSP00000374455
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002260lymphocyte homeostasis IEA--
    GO:0003158endothelium development IEA--
    GO:0006826iron ion transport ----
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006915apoptotic process ----

    Find genes that share ontologies with SLC40A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC40A1 (S40A1)

    1 HMDB Compound for SLC40A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    5 Novoseek inferred chemical compound relationships for SLC40A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 84.7 363 12907459 (8), 19027283 (7), 12547239 (6), 12801950 (6) (see all 99)
    deferoxamine 28.7 4 12547239 (2), 14568251 (1)
    copper 23.7 13 14973193 (5), 20016736 (3), 11842003 (2), 12220667 (1) (see all 5)
    fe2+ 15 1 12547239 (1)
    zinc 0 2 20016736 (1), 11684086 (1)



    Find genes that share compounds with SLC40A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC40A1 gene: 
    NM_014585.5  

    Unigene Cluster for SLC40A1:

    Solute carrier family 40 (iron-regulated transporter), member 1
    Hs.643005  [show with all ESTs]
    Unigene Representative Sequence: BC037733
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261024(uc002uqp.4) ENST00000427241(uc002uqr.1 uc002uqs.1)
    ENST00000479598(uc002uqq.2) ENST00000418714 ENST00000455320(uc010zfx.1)
    ENST00000427419 ENST00000440626
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    Additional mRNA sequence: 

    AF147322.1 AF171087.1 AF215636.1 AF226614.1 AF231121.1 AK002038.1 AK023574.1 AK223236.1 
    AK292146.1 AK314827.1 AL136944.1 BC035893.1 BC037733.1 BX537503.1 CR533564.1 DQ065759.1 
    DQ065760.1 DQ065761.1 DQ065762.1 DQ065763.1 DQ065764.1 

    19 DOTS entries:

    DT.455360  DT.100806539  DT.100668618  DT.102831840  DT.121024674  DT.121024664  DT.40114262  DT.100828451 
    DT.121024651  DT.75109196  DT.95347608  DT.100716390  DT.121024659  DT.40250863  DT.95347600  DT.121024638 
    DT.121024643  DT.121024671  DT.95347607 

    Selected AceView cDNA sequences (see all 599):

    BX470347 AL708641 CB132799 N70641 AA911206 BM973402 BQ007761 AI026970 
    BX951085 BX496481 AI364418 AL551987 BM748034 BG944057 AA025007 BX478550 
    AL545521 AW513318 AI915173 AA358323 AI355584 BM823657 AW572031 AI362305 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC40A1    About this scheme

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


    ECgene alternative splicing isoforms for SLC40A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC40A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACTGCAA
    SLC40A1 Expression
    About this image


    SLC40A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     NULL (Uncategorized)    fully expand to see all 5 entries
             Definitive endoderm-like cells
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Extraembryonic Visceral Endoderm Cells Extraembryonic Visceral Endoderm
             Extraembryonic Visceral Endoderm
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
             PureStem SM30, NCr-fac & Meso-latp Progenitor
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem MEL2, NCr-fac Progenitor
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
    SLC40A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC40A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643005

    UniProtKB/Swiss-Prot: S40A1_HUMAN, Q9NP59
    Tissue specificity: Expressed in placenta, intestine, muscle and spleen

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC40A1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc40a11 , 5 solute carrier family 40 (iron-regulated transporter), more1, 5 87.77(n)1
    91.36(a)1
      1 (23.96 cM)5
    539451  NM_016917.21  NP_058613.21 
     459080705 
    chicken
    (Gallus gallus)
    Aves SLC40A11 solute carrier family 40 (iron-regulated transporter), more 76(n)
    80.14(a)
      423984  NM_001012913.1  NP_001012931.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC40A16
    solute carrier family 40 (iron-regulated transport...
    76(a)
    1 ↔ 1
    GL343654.1(127888-159363)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc40a11 solute carrier family 40 (iron-regulated transporter), more 70.42(n)
    76.58(a)
      100036732  NM_001097277.1  NP_001090746.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF226612.12   -- 77.95(n)   58153  AF226612.1 
    worm
    (Caenorhabditis elegans)
    Secernentea fpn-1.16
    fpn-1.26
    Protein FPN-1.2 (fpn-1.2) mRNA, complete cds
    29(a)
    24(a)
    many → 1
    many → 1
    I(2113655-2118550) WBGene00021354
    V(1462013-1464777) WBGene00019977
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons IREG21 IREG2 45.43(n)
    35.15(a)
      831787  NM_120438.3  NP_195977.2 
    rice
    (Oryza sativa)
    Liliopsida Os06g05600001 Os06g0560000 45.77(n)
    36.15(a)
      4341302  NM_001064402.1  NP_001057867.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC40A1 gene
    1 SIMAP similar gene for SLC40A1 using alignment to 9 protein entries:     S40A1_HUMAN (see all proteins):
    LOC402642

    Find genes that share paralogs with SLC40A1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SLC40A1
    PGOHUM00000232613


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC40A1 (see all 498)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0300594
    Hemochromatosis 4 (HFE4)4--see VAR_0300592 G V mis40--------
    VAR_0300654
    Hemochromatosis 4 (HFE4)4--see VAR_0300652 D V mis40--------
    VAR_0225954
    Hemochromatosis 4 (HFE4)4--see VAR_0225952 N H mis40--------
    VAR_0225994
    Hemochromatosis 4 (HFE4)4--see VAR_0225992 G V mis40--------
    VAR_0225984
    Hemochromatosis 4 (HFE4)4--see VAR_0225982 Q H mis40--------
    VAR_0300574
    Hemochromatosis 4 (HFE4)4--see VAR_0300572 Y N mis40--------
    VAR_0300644
    Hemochromatosis 4 (HFE4)4--see VAR_0300642 G D mis40--------
    VAR_0300634
    Hemochromatosis 4 (HFE4)4--see VAR_0300632 D V mis40--------
    VAR_0225944
    Hemochromatosis 4 (HFE4)4--see VAR_0225942 A D mis40--------
    VAR_0225964
    Hemochromatosis 4 (HFE4)4--see VAR_0225962 D G mis40--------

    HapMap Linkage Disequilibrium report for SLC40A1 (190425305 - 190448484 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC40A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv483013CNV Gain15286789
    nsv875615CNV Gain21882294

    Human Gene Mutation Database (HGMD): SLC40A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC40A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC40A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604653   
    OMIM disorders: 606069  
    UniProtKB/Swiss-Prot: S40A1_HUMAN, Q9NP59
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 5 diseases for SLC40A1:    
    About MalaCards
    hemochromatosis type 4    slc40a1-related hereditary hemochromatosis    dehydrated hereditary stomatocytosis    siderosis
    hemochromatosis

    2 diseases from the University of Copenhagen DISEASES database for SLC40A1:
    Hemochromatosis     Anemia

    Find genes that share disorders with SLC40A1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC40A1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemochromatosis, autosomal dominant 95.6 5 11431687 (2), 18160816 (1), 19937651 (1), 16111902 (1)
    hemochromatosis 90.9 24 15897636 (2), 11914044 (1), 15703643 (1), 15935710 (1) (see all 20)
    iron overload 90.9 33 18337195 (3), 14618243 (2), 12547233 (2), 19937651 (2) (see all 26)
    hereditary hemochromatosis 86 6 17997113 (2), 16257244 (1), 15818145 (1), 17373275 (1) (see all 5)
    hemochromatosis, juvenile 85.1 2 17951290 (1), 18823803 (1)
    iron deficiency 66.7 5 14618243 (1), 12572674 (1), 12801950 (1), 18174266 (1) (see all 5)
    siderosis 55.7 2 14768003 (1), 18337195 (1)
    genetic disorder 45.7 5 17492589 (1), 17997113 (1), 16351644 (1)
    anemia 43.1 5 16838333 (2), 15075083 (1), 14636642 (1), 18174266 (1)
    iron deficiency anemia 42.4 1 11897618 (1)

    Genetic Association Database (GAD): SLC40A1
    Human Genome Epidemiology (HuGE) Navigator: SLC40A1 (19 documents)

    Export disorders for SLC40A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC40A1 gene, integrated from 10 sources (see all 215):
    (articles sorted by number of sources associating them with SLC40A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. (PubMed id 11518736)1, 2, 4, 9 Montosi G....Pietrangelo A. (J. Clin. Invest. 2001)
    2. A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. (PubMed id 12865285)1, 2, 4 Arden K.E.... Subramaniam V.N. (Gut 2003)
    3. Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? (PubMed id 18820912)1, 4, 9 AltA"s A....Baiget M. (Ann. Hematol. 2009)
    4. Genetic and clinical heterogeneity of ferroportin disease. (PubMed id 16351644)1, 2, 9 Cremonesi L....Cazzola M. (Br. J. Haematol. 2005)
    5. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. (PubMed id 14636642)1, 2, 9 Gordeuk V.R.... Pietrangelo A. (Blood Cells Mol. Dis. 2003)
    6. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). (PubMed id 12406098)1, 2, 9 Cazzola M.... Christakis J. (Br. J. Haematol. 2002)
    7. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. (PubMed id 15338274)1, 2, 9 Zaahl M.G.... Robson K.J.H. (Hum. Genet. 2004)
    8. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. (PubMed id 11431687)1, 2, 9 Njajou O.T.... Heutink P. (Nat. Genet. 2001)
    9. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. (PubMed id 10882071)1, 2, 9 McKie A.T.... Simpson R.J. (Mol. Cell 2000)
    10. DNA-array of gene variants in venous leg ulcers: detection of prognostic indicators. (PubMed id 19958990)1, 4, 9 Gemmati D....Zamboni P. (J. Vasc. Surg. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 30061 HGNC: 10909 AceView: SLC40A1 Ensembl:ENSG00000138449 euGenes: HUgn30061
    ECgene: SLC40A1 Kegg: 30061 H-InvDB: SLC40A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC40A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC40A1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC40A1 gene:
    Search GeneIP for patents involving SLC40A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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