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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC40A1 Gene

protein-coding   GIFtS: 61
GCID: GC02M190389

solute carrier family 40 (iron-regulated transporter), member...

(Previous names: solute carrier family 11 (proton-coupled divalent metal...)
(Previous symbol: SLC11A3)
 Explore 30 diseases affiliated with
SLC40A1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for SLC40A1    

Aliases
for SLC40A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 40 (Iron-Regulated Transporter), Member 11 2     MST0792
FPN11 2 3 5     Iron Regulated Gene 12
IREG11 2 3 5     Putative Ferroportin 1 Variant IIIB2
SLC11A31 2 3 5     Solute Carrier Family 40 Member 12
HFE41 2 5     Ferroportin-13
MTP11 2     Iron-Regulated Transporter 13
Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters),
Member 31 2
     

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


Summaries
for SLC40A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC40A1:
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)

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)


Genomic Views
for SLC40A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: SLC40A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC40A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC40A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: S40A1_HUMAN, Q9NP59 (See protein sequence)
Recommended Name: Solute carrier family 40 member 1  
Size: 571 amino acids; 62542 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Note=Localized to the basolateral membrane of
polarized epithelial cells
Secondary accessions: Q6FI62 Q7Z4F8 Q8IVB2 Q9NRL0

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NP59

    • SLC40A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055400.1  
    ENSEMBL proteins: 
     ENSP00000261024   ENSP00000390005   ENSP00000413549   ENSP00000392730   ENSP00000396134  
    Reactome Protein details: Q9NP59
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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


    SLC40A1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SLC40A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC40A1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB009716 Ferroportin1

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


    Function
    for SLC40A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC40A1 (see all 38):
    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-548k hsa-miR-3616-5p hsa-miR-624* hsa-miR-488 hsa-miR-628-3p
    SwitchGear 3'UTR luciferase reporter plasmid: SLC40A1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005381iron ion transmembrane transporter activity IMP12091367
    GO:0005515protein binding IPI--


    SLC40A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC40A1:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-out Slc40a1tm1Nca for SLC40A1
         13 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Slc40a1):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  vision/eye 

    SLC40A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC40A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    		Transmembrane transport of small molecules0.50
    2iron metabolism in placenta
    		iron metabolism in placenta1.00
    3Mineral absorption
    		Mineral absorption1.00
    4Zinc transporters
    		Metal ion SLC transporters0.68
    5Insulin receptor recycling
    		Iron uptake and transport0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for SLC40A1 
        iron metabolism in placenta

    5        Reactome Pathways for SLC40A1
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Iron uptake and transport
    Metal ion SLC transporters


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


    SLC40A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC40A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/18 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
    SQSTM1Q135013, ENSP000003744554I2D: score=1 STRING: ENSP00000374455
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CPP004503, ENSP000002646134I2D: score=2 STRING: ENSP00000264613
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 IEA--


    SLC40A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC40A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC40A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC40A1

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

    Search CenterWatch for drugs/clinical trials and news about SLC40A1 / S40A1 

    Transcripts
    for SLC40A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC40A1 (see all 38):
    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-548k hsa-miR-3616-5p hsa-miR-624* hsa-miR-488 hsa-miR-628-3p
    SwitchGear 3'UTR luciferase reporter plasmid: SLC40A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC40A1 (see all 7)
    OriGene shRNA RFP: SLC40A1
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    Clone
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    Additional cDNA 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 

    24/599 AceView cDNA sequences (see all 599):

    BI758006 BX951321 AU134630 CB161746 BX951085 AW591684 AI288216 AF226614 
    AA358323 AI457657 BM712660 AW512959 BQ007061 N76132 BX957032 AA024806 
    AI678407 BM738279 BP341224 AL551987 CR598073 AL709319 AW513517 BM055233 

    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

    Expression
    for SLC40A1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC40A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGACTGCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC40A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    BoneThoracic RibBone
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12) 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    Trophoblast-like cells (Generation of tropho...)
    Definitive endoderm-like cells (Generation and expan...)
    Definitive Endoderm (Generation of beta c...)
    Embryoid bodies (Two-step protocol fo...)
    Primordial germ cell-like cells (Reconstitution of mo...)

    See SLC40A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC40A1

    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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    In Situ
    Assay Products:     
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    Orthologs
    for SLC40A1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC40A1 gene from 7/22 species (see all 22)    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
    		 --
    		 76(a)
    		 1 ↔ 1
    		 GL343654.1(135622-157733)
    zebrafish
    (Danio rerio)    		 Actinopterygii AF226612.12   -- 77.95(n)   58153  AF226612.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea fpn-1.16
    fpn-1.36
    (see all 3)    		 FerroPortiN family member (fpn-1.3)
    (see all 3)    		 28(a)
    27(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 I(2113651-2118553)
    V(3794719-3798365)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons IREG11 iron regulated 1 protein 45.23(n)
    34.78(a)    		   818427  NM_129402.5  NP_181380.1 
    rice
    (Oryza sativa)    		 Liliopsida Os06g05600001 hypothetical protein 45.53(n)
    35.9(a)    		   4341302  NM_001064402.1  NP_001057867.1 


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

    Paralogs
    for SLC40A1 gene

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

    SLC40A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC40A1
    PGOHUM00000232613


    Genomic Variants
    for SLC40A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/385 NCBI SNPs in SLC40A1 are shown (see all 385)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048936641,2
    		Cpathogenic182288401(-) AATGGA/GTGTGA 2 D G mis10--------
    rs1048936701,2
    		Cpathogenic182289783(-) GACCAG/TTTAAC 2 Q H mis10--------
    rs1048936721,2
    		Cpathogenic182289787(-) GATTGA/TCCAGT 2 D V mis10--------
    rs1048936631,2
    		Cpathogenic182295972(-) AAGGGA/GTTGGA 2 D G mis10--------
    rs1048936621,2
    		Cpathogenic182296012(-) TTGCAA/CATTTG 2 N H mis10--------
    rs739802161,2
    		C,--182284427(+) ACTAAG/AGTCCA 1 -- ds50012Minor allele frequency- A:0.06WA 120
    rs798164381,2
    		--182284606(+) ACATAT/CTCAAA 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs115399831,2
    		C,F,H,--182284963(+) GTGCAT/CATAAA 1 -- ut3118Minor allele frequency- C:0.13NS EA WA NA CSA 1965
    rs115399841,2
    		C--182284964(+) TGCATA/GTAAAC 1 -- ut311Minor allele frequency- G:0.00NA 2
    rs1455344611,2
    		C,--182284970(+) TAAACA/GGTTAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC40A1 (190425305 - 190448484 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC40A1
         1 CNV: 0029
    Human Gene Mutation Database (HGMD): SLC40A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC40A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC40A1

    Disorders / Diseases
    for SLC40A1 gene

    (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.)
    About This Section
    SLC40A1 for disorders           About GeneDecksing

    OMIM gene information: 604653   
    OMIM disorders: 606069  
    UniProtKB/Swiss-Prot: S40A1_HUMAN, Q9NP59
  • Defects in SLC40A1 are the cause of hemochromatosis type 4 (HFE4) [MIM:606069]. HFE4 is an autosomal dominant
    • iron-loading disorder characterized by early iron accumulation in reticuloendothelial cells and a marked increase in
    serum ferritin before elevation of the transferrin saturation

    20/30 diseases for SLC40A1 (see all 30):    About MalaCards
    hemochromatosis type 4    hemochromatosis    dehydrated hereditary stomatocytosis    duodenitis
    porphyria cutanea tarda    iron overload    iron deficiency anemia    siderosis
    pediatric crohns disease    sideroblastic anemia    fatty liver disease    porphyria
    liver disease    anemia    crohn's disease    cystic fibrosis
    celiac disease    hepatitis c    thalassemia    kidney disease

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

    10/12 Novoseek 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

    Publications
    for SLC40A1 gene

    (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)
    About This Section

    PubMed articles for SLC40A1 gene, integrated from 9 sources (see all 207):
    (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. (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. (2003)
    3. Genetic and clinical heterogeneity of ferroportin disease. (PubMed id 16351644)1, 2, 9 Cremonesi L....Cazzola M. (2005)
    4. 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. (2003)
    5. 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. (2002)
    6. 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. (2004)
    7. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. (PubMed id 11431687)1, 2, 9 Njajou O.T.... Heutink P. (2001)
    8. 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. (2000)
    9. Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. (PubMed id 15894659)1, 4, 9 Abraham B.K....Brauch H. (2005)
    10. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. (PubMed id 12873829)1, 2, 9 Jouanolle A.-M.... Brissot P. (2003)

    External Searches for SLC40A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing SLC40A1 gene

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

    Other Databases showing SLC40A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC40A1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC40A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC40A1

    Intellectual Property
    for SLC40A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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