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

SLC11A1 Gene

protein-coding   GIFtS: 61
GCID: GC02P219246

solute carrier family 11 (proton-coupled divalent metal...


(Previous symbols: LSH, NRAMP, NRAMP1)
 Explore 59 diseases affiliated with
SLC11A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC11A1    

Aliases
for SLC11A1 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 11 (Proton-Coupled Divalent Metal Ion Transporters),
Member 11 2
     NRAMP 12 3
NRAMP1 2 3 5     Natural Resistance-Associated Macrophage Protein 12
NRAMP11 2 3 5     Solute Carrier Family 11 (Sodium/Phosphate Symporters), Member 12
LSH1 2 3     

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


Summaries
for SLC11A1 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 SLC11A1:
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)

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


Genomic Views
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 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 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 plasmid: SLC11A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC11A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC11A1 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: NRAM1_HUMAN, P49279 (See protein sequence)
Recommended Name: Natural resistance-associated macrophage protein 1  
Size: 550 amino acids; 59872 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49279

    • SLC11A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000569.3  
    ENSEMBL proteins: 
     ENSP00000233202   ENSP00000346320   ENSP00000443435  
    Reactome Protein details: P49279
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC11A1 Proteins
    Novus Biologicals SLC11A1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC11A1

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ----
    GO:0005764lysosome ISS--
    GO:0005770late endosome ISS--
    GO:0005773vacuole ----
    GO:0005886plasma membrane IMP17932044


    SLC11A1 for ontologies           About GeneDecksing



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    Uscn Antibodies for SLC11A1
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    Uscn ELISAs and CLIAs for SLC11A1

    Protein Domains /
    Families
    for SLC11A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC11A1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001046 Nat-R-assoc-macro_Nramp

    Graphical View of Domain Structure for InterPro Entry P49279

    ProtoNet protein and cluster: P49279

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

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


    Function
    for SLC11A1 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC11A1
    8/26 QIAGEN miScript miRNA 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 plasmid: SLC11A1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: SLC11A1
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for SLC11A1

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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


    Animal Models:
         Mouse knock-out Slc11a1tm1Mcg for SLC11A1
         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


    Pathways & Interactions
    for SLC11A1 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 - 5/7 super-pathways (see all 7) 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
    2Insulin receptor recycling
    		Phagosomal maturation (early endosomal stage)0.64
    		Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    3Validated targets of C-MYC transcriptional repression
    		Validated targets of C-MYC transcriptional repression1.00
    4Mineral absorption
    		Mineral absorption1.00
    5Lysosome
    		Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/7        Reactome Pathways for SLC11A1 (see all 7)
        Phagosomal maturation (early endosomal stage)
    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
    Latent infection of Homo sapiens with Mycobacterium tuberculosis


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


    SLC11A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC11A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/23 Interacting proteins for SLC11A1 (P492793 ENSP000002332024) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP2C1P981943, ENSP000003526654I2D: score=1 STRING: ENSP00000352665
    SOD1P004413, ENSP000002701424I2D: score=1 STRING: ENSP00000270142
    PMPCBO754393, ENSP000002492694I2D: score=1 STRING: ENSP00000249269
    CSNK1G2P783683I2D: score=2 
    UBCP0CG483I2D: score=2 
    About this table

    Gene Ontology (GO): 5/44 biological process terms (GO ID links to tree view) (see all 44):    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



    Drugs & Compounds
    for SLC11A1 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

    SLC11A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC11A1

    2 HMDB Compounds for SLC11A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    Manganesemanganese 7439-96-5--
    10/16 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SLC11A1 / NRAM1 

    Transcripts
    for SLC11A1 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 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
    18/19 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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    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 plasmid: SLC11A1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/78 AceView cDNA sequences (see all 78):

    L32185 AW451386 CA392845 AA281426 BI490441 CD365685 CR593183 AI003184 
    BC033754 BX458571 CD368792 AI679353 BI489729 BC041787 BM719749 BI910669 
    BP340511 CA306631 BF477425 BI518552 D38171 CA440835 BQ189468 CK300468 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for SLC11A1 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

    SLC11A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAGCTGAAG

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

    SLC11A1 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)
    Extraembryonic MesodermExtraembryonic Blood IslandsPrimitive ErythrocytesBlood
    OvaryAntral FollicleCumulus CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC11A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC11A1

    SOURCE GeneReport for Unigene cluster: Hs.591607

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC11A1: 
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    Orthologs
    for SLC11A1 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 last universal common ancestor (LUCA).

    Orthologs for SLC11A1 gene from 8/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC11A11 solute carrier family 11 (proton-coupled divalent metal more 72.47(n)
    70.27(a)    		   395811  NM_204964.1  NP_990295.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC11A16
    		 --
    		 71(a)
    		 1 ↔ 1
    		 1(88647389-88672281)
    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 SMF31 Smf3p 43.51(n)
    35.1(a)    		   850721   NP_013134.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons NRAMP51 metal transporter Nramp5 50.11(n)
    48.31(a)    		   827613  NM_117995.1  NP_193614.1 
    rice
    (Oryza sativa)    		 Liliopsida AK071485.12   -- 72.33(n)    AK071485.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria mntH6
    		 manganese/divalent cation transporter
    		 33(a)
    		 possible ortholog
    		 Chromosome(2509490-2510728)


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

    Paralogs
    for SLC11A1 gene

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

    SLC11A1 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC11A1 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

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


    10/381 NCBI SNPs in SLC11A1 are shown (see all 381)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs172354091,2
    		C,F,H,other225606523(+) AAGAGG/AACCAG 2 /N /D mis1 ese317Minor allele frequency- A:0.04NA NS EA WA EU 7747
    rs2005341521,2
    		C--211098199(+) TCTTTC/TTTTTT 1 -- us2k10--------
    rs1136838941,2
    		C,--211099263(+) GGTCGC/TGCCAT 1 -- us2k12Minor allele frequency- T:0.05NA 122
    rs744264881,2
    		C,--211099442(+) AGTGAG/ACTGAG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs286261391,2
    		C,F,H--211099619(+) AAAAAC/AAAAAA 1 -- us2k15Minor allele frequency- A:0.01NS NA 674
    rs798528911,2
    		--211099709(+) CAAGTG/CAATCA 1 -- us2k12Minor allele frequency- C:0.02CSA WA 120
    rs344488911,2
    		C,--211099941(+) TGTAC-/GTGTGTG 1 -- us2k10--------
    rs75730651,2
    		C,F,H,--211099998(+) GAATAC/TGCAAG 1 -- us2k116Minor allele frequency- T:0.06NS EA NA WA 2338
    rs730730531,2
    		C,F,--211101275(+) CTTCCG/ATCCCC 1 -- int13Minor allele frequency- A:0.03WA CSA 122
    rs75912421,2
    		C,--211101326(+) TTAAAT/CGACTT 1 -- int14Minor allele frequency- C:0.06NA WA EA 360

    HapMap Linkage Disequilibrium report for SLC11A1 (219246752 - 219261617 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC11A1: --
    Human Gene Mutation Database (HGMD): SLC11A1

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    Disorders / Diseases
    for SLC11A1 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
    SLC11A1 for disorders           About GeneDecksing

    OMIM gene information: 600266   
    OMIM disorders: 607948  610446  
    20/59 diseases for SLC11A1 (see all 59):    About MalaCards
    rheumatoid arthritis    tuberculosis    leprosy    post-transplant lymphoproliferative disease
    crohn's disease    arthritis    multidrug-resistant tuberculosis    iron overload
    mycobacterium tuberculosis    mycobacterium tuberculosis, susceptibility to infection by    typhoid fever    mycobacterial infection
    systemic lupus erythematosus    type 1 diabetes mellitus    inflammatory bowel disease    systemic lupus erythematosus, association with
    visceral leishmaniasis    leishmaniasis    enterobiasis    chronic obstructive pulmonary disease

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

    10/35 Novoseek 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

    Publications
    for SLC11A1 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 SLC11A1 gene, integrated from 9 sources (see all 252):
    (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. (2005)
    2. 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. (1994)
    3. Isolation and characterization of human Nramp cDNA. (PubMed id 7980580)1, 2, 3 Kishi F. (1994)
    4. 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. (2005)
    5. Inflammatory bowel disease is associated with a novel promoter polymorphism of natural resistance-associated macrophage protein 1 (NRAMP1) gene. (PubMed id 11929588)1, 4, 9 Kojima Y....Shimosegawa T. (2001)
    6. Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene. (PubMed id 15757519)1, 4, 9 Crawford N.P....Galandiuk S. (2005)
    7. Genetic analysis of SLC11A1 polymorphisms in multiple sclerosis patients. (PubMed id 15584484)1, 4, 9 Comabella M....Montalban X. (2004)
    8. SLC11A1 (NRAMP1) but not SLC11A2 (NRAMP2) polymorphisms are associated with susceptibility to tuberculosis in a high-incidence community in South Africa. (PubMed id 15636493)1, 4, 9 Hoal E.G....Van Helden P.D. (2004)
    9. Interleukin-10, polymorphism in SLC11A1 (formerly NRAMP1), and susceptibility to tuberculosis. (PubMed id 12447767)1, 4, 9 Awomoyi A.A....Newport M.J. (2002)
    10. Natural resistance-associated macrophage protein 1 polymorphisms are associated with microscopy-positive tuberculosis. (PubMed id 12195379)1, 4, 9 Soborg C....Garred P. (2002)

    External Searches for SLC11A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC11A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6556 HGNC: 10907 AceView: SLC11A1 Ensembl:ENSG00000018280 euGenes: HUgn6556
    ECgene: SLC11A1 Kegg: 6556 H-InvDB: SLC11A1

    Other Databases showing SLC11A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC11A1 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 SLC11A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC11A1 gene

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

    GeneCards and IP:
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