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FLASH GENE
Symbol SLC11A1 contributors: mct/ - updated : 27-11-2013
HGNC name solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
HGNC id 10907
Corresponding disease
MBTS mycobacterium tuberculosis, susceptibility to infection
Location 2q35      Physical location : 219.246.751 - 219.261.616
Synonym name
  • natural resistance-associated macrophage protein 1
  • solute carrier family 11 (sodium/phosphate symporters), member 1
  • Synonym symbol(s) LSH, NRAMP1, NRAMP
    DNA
    TYPE functioning gene
    STRUCTURE 14.87 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    motif repetitive sequence
    text structure
  • trinucleotide (ATA)n repeat polymorphism in intron 8
  • one distal cis element binds Sp1 and is required for SLC11A1 myeloid regulation
  • another site in the proximal region binds CCAAT enhancer binding proteins alpha or beta and is crucial for transcription
  • MAPPING cloned Y linked N status confirmed
    Map cen - D2S173 - D2S104 - SLC11A1 - CTDSP1 - IL8RA - IL8RB - VIL1 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 splicing 3865 - 550 - 2006 16905747
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte Homo sapiens
    Lymphoid/Immunelymphocyte Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal AAs 73140 region including TMD2 was essential for SLC11A1 lysosomal targeting
  • 12 membrane spanning domains (TM12)
  • a putative SH3 binding domain
  • two linked glycosylation sites
  • consists of multiple targeting motifs for trafficking into lysosomes
  • two internal signal sequences, AA.451483 and AA.489522, direct SLC11A1 targeting into lysosomes
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Lsh/Ity/Bcg
    Homologene
    FAMILY
  • solute carrier family 11
  • NRAMP family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • localized in membranes of lysosomes
  • basic FUNCTION
  • regulator of mycobacterial infection (activator of macrophage)
  • proton-divalent cation transporter having an important role in regulating macrophage functions that affect innate resistance as well as immune responses
  • regulate ion homeostasis from endosomal compartments and having pleiotropic effects on pro-inflammatory responses
  • involved in defense against intracellular pathogens
  • plays important roles in macrophage activation and displays pleiotropic effects on various macrophage functions, including the regulation of tumor necrosis factor-alpha (TNF-alpha), interleukin-1beta (IL-1beta) (n plays important roles in macrophage activation and displays pleiotropic effects on various macrophage functions, including the regulation of tumor necrosis factor-alpha
  • contributes to phagocyte-autonomous antimicrobial defense mechanisms
  • promotes potentially efficient hemoglobin iron recycling in macrophages, suggesting that mutations in SLC11A1 could result in a novel form of human hereditary iron overload
  • SLC11A1, SLC11A2, are iron transporters that localize, respectively, to the early and late endosomal compartments
  • have roles in phagosome maturation and cell activation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of transmembrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ELAVL1 (a key mediator of post-transcriptional regulation and expression of the SLC11A1)
  • cell & other
    REGULATION
    Other regulated by CEBPB and SP1(CEBPB and SP1 factors are involved in regulating the expression of the SLC11A1 gene in myeloid cells)
    ASSOCIATED DISORDERS
    corresponding disease(s) MBTS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    simultaneous loss of both SLC11A1 and SLC11A2 iron transport activity is detrimental to the iron recycling capacity of the macrophage
    Susceptibility
  • to pediatric tuberculosis at least in west Africans, mycobacterium leprae (see MBTS),
  • autoimmune disorders (multiple sclerosis)
  • to early-onset type 1 diabetes
  • to visceral leishmaniasis in the Sudan
  • to inflammatory bowel disease
  • to chronic obstructive pulmonary disease
  • Variant & Polymorphism SNP , insertion/deletion , other
  • a polymorphism in the promoter region correlating with
  • autoimmune versus infectious disease susceptibility (mycobacterium tuberculosis)
  • promoter polymorphism associated with inflammatory bowel disease
  • intron 4,G>C
  • allelic variation of the promoter
  • polymorphisms associated with the risk of chronic obstructive pulmonary disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS