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

SLC11A1 Gene

protein-coding   GIFtS: 63
GCID: GC02P219246

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


(Previous symbols: LSH, NRAMP, NRAMP1)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion
Transporter), Member 11 2
     NRAMP 12 3
NRAMP1 2 3 5     Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters),
Member 12
NRAMP11 2 3 5     Solute Carrier Family 11 (Sodium/Phosphate Symporters), Member 12
LSH1 2 3     Solute Carrier Family 11 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 tuberculosis, and pulmonary tuberculosis, and among its related super-pathways are Transmembrane transport of small molecules and Insulin receptor recycling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
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 plasmidSLC11A1 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SLC11A1 at MOPED 

Post-translational modifications:

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

  • SLC11A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC11A1 Protein Expression
    REFSEQ proteins: NP_000569.3  
    ENSEMBL proteins: 
     ENSP00000233202   ENSP00000346320   ENSP00000443435  
    Reactome Protein details: P49279
    Human Recombinant Protein Products for SLC11A1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (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 to plasma membrane NAS8537108

    SLC11A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 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


    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 - Custom generated mouse model solutions for SLC11A1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC11A1 
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    SwitchGear 3'UTR luciferase reporter plasmidSLC11A1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC11A1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    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
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Phagosomal maturation (early endosomal stage)0.64
    3Zinc transporters
    Metal ion SLC transporters0.68
    4Validated targets of C-MYC transcriptional repression
    Validated targets of C-MYC transcriptional repression
    5Mineral absorption
    Mineral absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/45 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    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--

    10/16 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)

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

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

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

    BX458571 BC033754 CD368792 AI679353 BI489729 AW451386 AA281426 CA392845 
    CR593183 AI003184 L32185 BC041787 BI490441 CD365685 AI215143 BX390449 
    BM719749 BU626785 BF477425 CD369242 BP340511 AW339636 BF057464 BI910710 

    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

    (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)      SLC11A1 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 8 entries
             Conventional Dendritic Cells I Spleen
             neutrophils   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen
     
     Lung (Respiratory System)
             alveolar macrophages   
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros

    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: 
              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

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC11A1 gene from 8/16 species (see all 16)    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 83.61(n)1
    87.85(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 72.47(n)
    70.27(a)
      395811  NM_204964.1  NP_990295.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC11A16
    Uncharacterized protein
    68(a)
    1 ↔ 1
    1(88642386-88681557)
    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 


    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)
    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



    (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) 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]


    10/506 SNPs in SLC11A1 are shown (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
    VAR_0046294
    ----see VAR_0046292 Q R mis40--------
    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--------

    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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600266   
    OMIM disorders: 607948  610446  
    20/53 diseases for SLC11A1 (see all 53):    About MalaCards
    tuberculosis    pulmonary tuberculosis    visceral leishmaniasis    campylobacteriosis
    enterobiasis    mycobacterium tuberculosis, susceptibility to infection by    cutaneous leishmaniasis    q fever
    typhoid fever    salmonellosis    post-transplant lymphoproliferative disease    multidrug-resistant tuberculosis
    leprosy    crohn's disease    leishmaniasis    brucellosis
    extrapulmonary tuberculosis    rheumatoid arthritis    silicosis    reactive arthritis

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

    SLC11A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/35 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)
    About This Section

    PubMed articles for SLC11A1 gene, integrated from 9 sources (see all 259):
    (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. 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. (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. (1994)
    4. Isolation and characterization of human Nramp cDNA. (PubMed id 7980580)1, 2, 3 Kishi F. (1994)
    5. SLC11A1 (formerly NRAMP1) polymorphisms associated with multidrug-resistant tuberculosis. (PubMed id 17950034)1, 4, 9 Takahashi K....Shimokata K. (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. (2007)
    7. Genetic susceptibility to Behcet's syndrome is associated with NRAMP1 (SLC11A1) polymorphism in Turkish patients. (PubMed id 18998137)1, 4, 9 Ates O....Topal-Sarikaya A. (2008)
    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. (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. (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. (2006)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

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



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