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SLC11A1 Gene

protein-coding   GIFtS: 63
GCID: GC02P219246

Solute Carrier Family 11 (Proton-Coupled Divalent Metal...


(Previous symbols: LSH, NRAMP, NRAMP1)
  See 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 11 (Proton-Coupled Divalent Metal Ion
Transporter), Member 11 2
     Solute Carrier Family 11 Member 12 3
NRAMP1 2 3 5     NRAMP 12 3
NRAMP11 2 3 5     Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters),
Member 12
LSH1 2 3     Solute Carrier Family 11 (Sodium/Phosphate Symporters), Member 12
Natural Resistance-Associated Macrophage Protein 11 2     

External Ids:    HGNC: 109071   Entrez Gene: 65562   Ensembl: ENSG000000182807   OMIM: 6002665   UniProtKB: P492793   

Export aliases for SLC11A1 gene to outside databases

Previous GC identifers: GC02P217262 GC02P217968 GC02P219210 GC02P219450 GC02P219449 GC02P219072 GC02P218955 GC02P211100


(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 SLC11A1 Gene:
This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and
encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese)
transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have
been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory
diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different
protein isoforms have been described but the full-length nature of only one has been determined. (provided by
RefSeq, Jul 2008)

GeneCards Summary for SLC11A1 Gene:
SLC11A1 (solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1) is a protein-coding gene. Diseases associated with SLC11A1 include enterobiasis, and campylobacteriosis. GO annotations related to this gene include protein homodimerization activity and transition metal ion transmembrane transporter activity. An important paralog of this gene is SLC11A2.

UniProtKB/Swiss-Prot: NRAM1_HUMAN, P49279
Function: Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host
resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to
infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+),
cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the
macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for
synthesis of its protective enzymes

Gene Wiki entry for SLC11A1 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:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC11A1 gene promoter:
         AP-1   ATF-2   COUP   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Roaz   CREB   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC11A1 promoter sequence
   Search Chromatin IP Primers for SLC11A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC11A1


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

SLC11A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC11A1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P219246:  view genomic region     (about GC identifiers)

Start:
219,246,752 bp from pter      End:
219,261,617 bp from pter
Size:
14,866 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NRAM1_HUMAN, P49279 (See protein sequence)
Recommended Name: Natural resistance-associated macrophage protein 1  
Size: 550 amino acids; 59872 Da
Secondary accessions: C0H5Y3
Alternative splicing: 2 isoforms:  P49279-1   P49279-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC11A1: NX_P49279

Explore proteomics data for SLC11A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn324, Asn338
  • Modification sites at PhosphoSitePlus

  • See SLC11A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000569.3  
    ENSEMBL proteins: 
     ENSP00000233202   ENSP00000346320   ENSP00000443435  
    Reactome Protein details: P49279

    SLC11A1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

    SLC11A1 Antibody Products:

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    SLC11A1 Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (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: NRAMP1
    SLC11 family of proton-coupled metal ion transporters

    1 InterPro protein domain:
     IPR001046 NRAMP-like

    Graphical View of Domain Structure for InterPro Entry P49279

    ProtoNet protein and cluster: P49279

    1 Blocks protein domain: IPB001046 Natural resistance-associated macrophage protein signature

    UniProtKB/Swiss-Prot: NRAM1_HUMAN, P49279
    Similarity: Belongs to the NRAMP family


    SLC11A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NRAM1_HUMAN, P49279
    Function: Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host
    resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to
    infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+),
    cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the
    macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for
    synthesis of its protective enzymes
    Induction: In response to lymphokine or bacterial products

         Genatlas biochemistry entry for SLC11A1:
    solute carrier family 11,member A1,proton-coupled divalent metal ion transporter family,natural
    resistance-associated macrophage protein 1,also expressed in liver,spleen with a polymorphism in the promoter
    region correlating with autoimmune versus infectious disease susceptibility

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ----
    GO:0005215transporter activity ----
    GO:0005384manganese ion transmembrane transporter activity ISS--
    GO:0042803protein homodimerization activity IDA8537108
    GO:0046915transition metal ion transmembrane transporter activity IGI17932044
         
    SLC11A1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc11a1):
     digestive/alimentary  hematopoietic system  immune system  mortality/aging  tumorigenesis 

    SLC11A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc11a1tm1Mcg for SLC11A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC11A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC11A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC11A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC11A1

    miRNA
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    Block miRNA regulation of human, mouse, rat SLC11A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC11A1 (see all 26):
    hsa-miR-875-3p hsa-miR-631 hsa-miR-106a hsa-miR-938 hsa-miR-765 hsa-miR-331-3p hsa-miR-3653 hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidSLC11A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC11A1
    Predesigned siRNA for gene silencing in human, mouse, rat SLC11A1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for SLC11A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SLC11A1 (NM_000578)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC11A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC11A1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC11A1


    (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
    NRAM1_HUMAN, P49279: Membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome4
    lysosome3
    vacuole3

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ----
    GO:0005764lysosome ISS--
    GO:0005770late endosome ISS--
    GO:0005886plasma membrane IMP17932044
    GO:0005887integral component of plasma membrane NAS8537108

    SLC11A1 for ontologies           About GeneDecksing


    (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 SLC11A1 About   (see all 6)  
    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
    2Validated targets of C-MYC transcriptional repression
    Validated targets of C-MYC transcriptional repression
    3Mineral absorption
    Mineral absorption
    4Metal ion SLC transporters
    Metal ion SLC transporters
    5Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC11A1
        Validated targets of C-MYC transcriptional repression

    2 Reactome Pathways for SLC11A1
        Phagosomal maturation (early endosomal stage)
    Metal ion SLC transporters


    2 Kegg Pathways  (Kegg details for SLC11A1):
        Lysosome
    Mineral absorption


    SLC11A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC11A1: 
              Innate & Adaptive Immune Responses in human mouse rat
              Th1/Th2 Response in human mouse rat
              Type I Interferon Response in human mouse rat
              Antibacterial Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC11A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SLC11A1 (P492793 ENSP000002332024) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP2C1P981943, ENSP000003526654I2D: score=1 STRING: ENSP00000352665
    BMI1P352263, ENSP000003658514I2D: score=1 STRING: ENSP00000365851
    CBX2Q147813, ENSP000003087504I2D: score=1 STRING: ENSP00000308750
    PCGF2P352273, ENSP000003540334I2D: score=1 STRING: ENSP00000354033
    SOD1P004413, ENSP000002701424I2D: score=1 STRING: ENSP00000270142
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 45):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IEA--
    GO:0001818negative regulation of cytokine production ISS--
    GO:0001819positive regulation of cytokine production ISS--
    GO:0002309T cell proliferation involved in immune response ISS--
    GO:0002369T cell cytokine production ISS--

    SLC11A1 for ontologies           About GeneDecksing



    (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 SLC11A1 (NRAM1)

    2 HMDB Compounds for SLC11A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    Manganesemanganese 7439-96-5--

    Selected Novoseek inferred chemical compound relationships for SLC11A1 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgtg 93.5 8 17459898 (2), 16395392 (1), 18340647 (1), 15636493 (1) (see all 6)
    lepromin 56.3 3 15755200 (2)
    iron 54.5 88 18456389 (5), 11449359 (5), 19321419 (5), 9559656 (4) (see all 30)
    vitamin d 42.8 12 15141734 (1), 15607008 (1), 18515557 (1), 20231985 (1) (see all 10)
    manganese 30.8 3 15350193 (1), 16922681 (1), 11418195 (1)
    mannose 19.8 2 11469950 (1), 20199642 (1)
    fe2+ 4.84 1 11237855 (1)
    calcium 1.91 1 11500563 (1)
    oxygen 0 1 11018148 (1)
    sodium 0 1 11500563 (1)



    SLC11A1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC11A1 gene (2 alternative transcripts): 
    NM_000578.3  NM_001032220.1  

    Unigene Cluster for SLC11A1:

    Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
    Hs.591607  [show with all ESTs]
    Unigene Representative Sequence: NM_000578
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000468221(uc010fvp.1 uc010fvq.1) ENST00000233202(uc010zkc.1 uc002vhv.3 uc002vhw.3 uc010fvr.3)
    ENST00000473367 ENST00000465984(uc010zkb.1 uc002vhu.1) ENST00000486451
    ENST00000354352 ENST00000481524 ENST00000494322 ENST00000471875 ENST00000469799
    ENST00000492413 ENST00000475225 ENST00000469449 ENST00000483487 ENST00000460592
    ENST00000490872 ENST00000490536 ENST00000468721
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC11A1 (see all 26):
    hsa-miR-875-3p hsa-miR-631 hsa-miR-106a hsa-miR-938 hsa-miR-765 hsa-miR-331-3p hsa-miR-3653 hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidSLC11A1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SLC11A1 (NM_000578)
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC11A1
      QuantiFast Probe-based Assays in human, mouse, rat SLC11A1

    Additional mRNA sequence: 

    AK294707.1 AK298667.1 AK303398.1 AK307954.1 AK310914.1 AK311405.1 D38171.1 D50402.1 
    D50403.1 L32185.1 

    9 DOTS entries:

    DT.97824848  DT.440710  DT.95167330  DT.101980620  DT.86848485  DT.91652136  DT.100705432  DT.432025 
    DT.92016958 

    Selected AceView cDNA sequences (see all 78):

    CA392845 AW451386 AA281426 BI490441 CR593183 BX458571 AI003184 BC033754 
    BI489729 BC041787 CD368792 CD365685 L32185 AI679353 AW339636 CA440835 
    CA306631 BQ709926 BI910669 NM_000578 D50402 D38171 BQ222842 BX371707 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC11A1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a ·
    SP1:                                -     -                                         -                                               -                           
    SP2:                                -     -                       -                 -                                               -                           
    SP3:                                -     -     -                                                                                                               
    SP4:                                -     -                       -                                                                                             
    SP5:                                -     -     -     -           -                                                                                             

    ExUns: 16b · 16c ^ 17
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for SLC11A1

    (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)
    About This Section

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    SLC11A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGCTGAAG
    SLC11A1 Expression
    About this image


    SLC11A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 9 entries
             Monocytes Peripheral Blood
             neutrophils   
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
     
     Lung (Respiratory System)
             alveolar macrophages   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
    SLC11A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC11A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591607

    UniProtKB/Swiss-Prot: NRAM1_HUMAN, P49279
    Tissue specificity: Macrophages; peripheral blood leukocytes, lung, spleen and liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC11A1: 
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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 SLC11A1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc11a11 , 5 solute carrier family 11 (proton-coupled divalent metal more1, 5 83.49(n)1
    87.66(a)1
      1 (38.54 cM)5
    181731  NM_013612.21  NP_038640.21 
     743752035 
    chicken
    (Gallus gallus)
    Aves SLC11A11 solute carrier family 11 (proton-coupled divalent metal more 74.35(n)
    72.96(a)
      395811  NM_204964.1  NP_990295.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC11A16
    solute carrier family 11 (proton-coupled divalent ...
    68(a)
    1 ↔ 1
    1(88642386-88681557)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc11a11 solute carrier family 11 (proton-coupled divalent metal more 69.11(n)
    68.53(a)
      100498626  XM_002933953.2  XP_002933999.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mvl3   -- 58(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea smf-13   -- 53(a)
    (best of 2)
      X(6755063-6758306)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMF36
    SMF26
    (see all 3)
    Putative divalent metal ion transporter involved i...
    Divalent metal ion transporter involved in mangane...
    (see all 3)
    29(a)
    27(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    XII(210512-211933) YLR034C
    VIII(207654-209303) YHR050W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRAMP41 NRAMP4 54.36(n)
    55.4(a)
      836868  NM_126133.3  NP_201534.1 
    rice
    (Oryza sativa)
    Liliopsida AK071485.12   -- 72.33(n)    AK071485.1 


    ENSEMBL Gene Tree for SLC11A1 (if available)
    TreeFam Gene Tree for SLC11A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC11A1 gene
    SLC11A22  
    2 SIMAP similar genes for SLC11A1 using alignment to 2 protein entries:     NRAM1_HUMAN (see all proteins):
    NRAMP1    SLC11A2

    SLC11A1 for paralogs           About GeneDecksing



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    NRAM1_HUMAN, P49279: Genetic variation in SLC11A1 is associated with susceptibility to infection with Mycobacterium
    ulcerans [MIM:610446]
    NRAM1_HUMAN, P49279: Genetic variations in SLC11A1 determine Mycobacterium tuberculosis susceptibility [MIM:607948]


    Selected SNPs for SLC11A1 (see all 506)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs172354091,2,,4
    C,F,Hother1218643429(+) AAGAGG/AACCAG 2 /N /D mis1 ese317Minor allele frequency- A:0.04NA NS EA WA EU 7747
    rs2005341521,2
    C--218628613(+) TCTTTC/TTTTTT 1 -- us2k10--------
    rs1889272131,2
    --218628873(+) CTCCCA/GGGTTC 1 -- us2k10--------
    rs1931102821,2
    --218628937(+) ACCACA/GCCCGG 1 -- us2k10--------
    rs1407208681,2
    C--218628941(+) CGCCCA/GGCTAA 1 -- us2k10--------
    rs1852665381,2
    --218629186(+) CTCCTA/GTGAGC 1 -- us2k10--------
    rs1876450541,2
    --218629229(+) GTGGCA/GTAGGT 1 -- us2k10--------
    rs1446566851,2
    --218629300(+) GGCTAC/TATGCC 1 -- us2k10--------
    rs2018620051,2
    --218629421(+) CTACT-/AAAAAA 1 -- us2k10--------
    rs1457076481,2
    C--218629478(+) GCACTC/TTGGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC11A1 (219246752 - 219261617 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC11A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3166CNV Insertion18451855
    nsv519829CNV Loss19592680
    dgv4435n71CNV Loss21882294
    nsv875855CNV Loss21882294
    nsv875858CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC11A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC11A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC11A1

    (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: 600266   
    OMIM disorders: 607948  610446  
    Selected diseases for SLC11A1 (see all 53):    
    About MalaCards
    enterobiasis    campylobacteriosis    mycobacterium tuberculosis, susceptibility to infection by    buruli ulcer disease
    pulmonary tuberculosis    visceral leishmaniasis    multidrug-resistant tuberculosis    crohn's disease
    typhoid fever    post-transplant lymphoproliferative disease    q fever    tuberculosis
    leishmaniasis    leprosy    extrapulmonary tuberculosis    cutaneous leishmaniasis
    reactive arthritis    brucellosis    rheumatoid arthritis    silicosis

    4 diseases from the University of Copenhagen DISEASES database for SLC11A1:
    Tuberculosis     Leprosy     Enterobiasis     Brucellosis

    SLC11A1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SLC11A1 gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tuberculosis 73.1 167 16638645 (7), 15825023 (6), 9486992 (5), 16103355 (5) (see all 51)
    genetic susceptibility 62 15 9666961 (1), 10719815 (1), 18998137 (1), 10679418 (1) (see all 8)
    tuberculosis pulmonary 57.3 31 15825023 (5), 17950034 (3), 19799071 (3), 15141734 (2) (see all 14)
    mycobacterial infection 56.2 4 9504332 (1), 9355125 (1), 12195379 (1)
    infectious disease 55.2 21 10967134 (2), 10065630 (1), 12243064 (1), 15223010 (1) (see all 12)
    autoimmune diseases 52.2 26 8796889 (2), 10758409 (2), 10065630 (1), 15641099 (1) (see all 18)
    buruli ulcer 41.5 5 16395392 (4)
    paratuberculosis 39.5 5 17131479 (2), 19768110 (1)
    leishmaniasis visceral 36.4 1 12618857 (1)
    rheumatoid arthritis 35.4 18 10719815 (4), 9058648 (2), 8863160 (2), 17606764 (1) (see all 10)

    Genetic Association Database (GAD): SLC11A1
    Human Genome Epidemiology (HuGE) Navigator: SLC11A1 (107 documents)

    Export disorders for SLC11A1 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 SLC11A1 gene, integrated from 10 sources (see all 262):
    (articles sorted by number of sources associating them with SLC11A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease. (PubMed id 16103355)1, 2, 4, 9 Malik S....Schurr E. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    2. Susceptibility to Buruli ulcer is associated with the SLC11A1 (NRAMP1) D543N polymorphism. (PubMed id 16395392)1, 2, 4, 9 Stienstra Y.... van der Steege G. (Genes Immun. 2006)
    3. Human natural resistance-associated macrophage protein: cDNA cloning, chromosomal mapping, genomic organization, and tissue-specific expression. (PubMed id 7964458)1, 2, 3, 9 Cellier M.... Gros P. (J. Exp. Med. 1994)
    4. Isolation and characterization of human Nramp cDNA. (PubMed id 7980580)1, 2, 3 Kishi F. (Biochem. Biophys. Res. Commun. 1994)
    5. SLC11A1 (formerly NRAMP1) polymorphisms associated with multidrug-resistant tuberculosis. (PubMed id 17950034)1, 4, 9 Takahashi K....Shimokata K. (Tuberculosis (Edinb) 2008)
    6. Reduced in vitro functional activity of human NRAMP1 (SLC11A1) allele that predisposes to increased risk of pediatric tuberculosis disease. (PubMed id 17917676)1, 4, 9 Gallant C.J....Schurr E. (Genes Immun. 2007)
    7. Genetic susceptibility to BehAset's syndrome is associated with NRAMP1 (SLC11A1) polymorphism in Turkish patients. (PubMed id 18998137)1, 4, 9 AteA9 O....Topal-Sarikaya A. (Rheumatol. Int. 2009)
    8. Association of SLC11A1 (NRAMP1) with persistent oligoarticular and polyarticular rheumatoid factor-negative juvenile idiopathic arthritis in Finnish patients: haplotype analysis in Finnish families. (PubMed id 15641099)1, 4, 9 Runstadler J.A....Seldin M.F. (Arthritis Rheum. 2005)
    9. Role of functional polymorphisms of NRAMP1 gene for the development of Crohn's disease. (PubMed id 18454481)1, 4, 9 Gazouli M....Anagnou N.P. (Inflamm. Bowel Dis. 2008)
    10. Association of NRAMP 1 gene polymorphism with susceptibility to tuberculosis in Taiwanese aboriginals. (PubMed id 16638645)1, 4, 9 Hsu Y.H....Su I.J. (J. Formos. Med. Assoc. 2006)

    (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: 6556 HGNC: 10907 AceView: SLC11A1 Ensembl:ENSG00000018280 euGenes: HUgn6556
    ECgene: SLC11A1 Kegg: 6556 H-InvDB: SLC11A1

    (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 SLC11A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC11A1 gene:
    Search GeneIP for patents involving SLC11A1

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



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