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    SLC11A1 solute carrier family 11 member 1 [ Homo sapiens (human) ]

    Gene ID: 6556, updated on 4-Jan-2025

    Summary

    Official Symbol
    SLC11A1provided by HGNC
    Official Full Name
    solute carrier family 11 member 1provided by HGNC
    Primary source
    HGNC:HGNC:10907
    See related
    Ensembl:ENSG00000018280 MIM:600266; AllianceGenome:HGNC:10907
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LSH; NRAMP; NRAMP1
    Summary
    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]
    Expression
    Biased expression in lung (RPKM 10.4), appendix (RPKM 8.8) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC11A1 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218382273..218396894)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (218868403..218883023)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219246996..219261617)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CATIP antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219221475-219221986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12315 Neighboring gene ribosomal protein L19 pseudogene 5 Neighboring gene CATIP antisense RNA 1 Neighboring gene ciliogenesis associated TTC17 interacting protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219257303-219257972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219258642-219259310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219259311-219259979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17124 Neighboring gene CTD small phosphatase 1 Neighboring gene microRNA 26b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219289129-219289629 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:219290512-219290729 Neighboring gene villin 1 Neighboring gene ubiquitin specific peptidase 37

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (13 hits/1258 screens)

    Associated conditions

    Description Tests
    Buruli ulcer, susceptibility to
    MedGen: C1864868 OMIM: 610446 GeneReviews: Not available
    Compare labs
    Mycobacterium tuberculosis, susceptibility to
    MedGen: C1834752 OMIM: 607948 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 43
    Process Evidence Code Pubs
    involved_in L-arginine transmembrane transport  
    involved_in MHC class II biosynthetic process  
    involved_in T cell proliferation involved in immune response  
    involved_in antigen processing and presentation of peptide antigen  
    involved_in antimicrobial humoral response  
    involved_in cadmium ion transmembrane transport PubMed 
    involved_in cell redox homeostasis  
    involved_in cellular detoxification of cadmium ion PubMed 
    involved_in defense response to Gram-negative bacterium  
    involved_in defense response to bacterium  
    involved_in defense response to protozoan  
    involved_in establishment of localization in cell  
    involved_in inflammatory response  
    involved_in intracellular iron ion homeostasis PubMed 
    involved_in iron ion transmembrane transport  
    involved_in iron ion transport PubMed 
    involved_in iron ion transport PubMed 
    involved_in mRNA stabilization  
    involved_in macrophage activation  
    involved_in manganese ion transmembrane transport  
    involved_in manganese ion transport  
    involved_in manganese ion transport PubMed 
    involved_in manganese ion transport  
    involved_in metal ion transport PubMed 
    involved_in multicellular organismal-level iron ion homeostasis  
    involved_in negative regulation of cytokine production  
    involved_in nitrite transport  
    involved_in phagocytosis  
    involved_in positive regulation of T-helper 1 type immune response  
    involved_in positive regulation of cytokine production  
    involved_in positive regulation of dendritic cell antigen processing and presentation  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of phagocytosis  
    involved_in positive regulation of transcription by RNA polymerase II  
    acts_upstream_of_or_within positive regulation of type II interferon production  
    involved_in positive regulation of type II interferon production  
    involved_in proton transmembrane transport  
    involved_in respiratory burst  
    involved_in response to bacterium PubMed 
    involved_in response to lipopolysaccharide  
    involved_in response to type II interferon  
    involved_in vacuolar acidification  
    involved_in wound healing  
    Items 1 - 25 of 43
    Component Evidence Code Pubs
    is_active_in endosome membrane  
    located_in ficolin-1-rich granule membrane  
    located_in late endosome  
    located_in late endosome membrane  
    located_in late endosome membrane  
    is_active_in lysosomal membrane  
    located_in lysosomal membrane  
    located_in lysosome  
    is_active_in phagocytic vesicle membrane  
    located_in phagocytic vesicle membrane PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in tertiary granule membrane PubMed 
    located_in tertiary granule membrane  

    General protein information

    Preferred Names
    natural resistance-associated macrophage protein 1
    Names
    Leishmaniasis resistance
    NRAMP 1
    solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
    solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
    solute carrier family 11 (sodium/phosphate symporters), member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012128.1 RefSeqGene

      Range
      5245..19866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000578.4 → NP_000569.3  natural resistance-associated macrophage protein 1

      See identical proteins and their annotated locations for NP_000569.3

      Status: REVIEWED

      Source sequence(s)
      AC021016, CA307182, DB284801, L32185
      Consensus CDS
      CCDS2415.1
      UniProtKB/Swiss-Prot
      C0H5Y3, P49279
      UniProtKB/TrEMBL
      B4E0J2
      Related
      ENSP00000233202.6, ENST00000233202.11
      Conserved Domains (2) summary
      TIGR01197
      Location:56 → 456
      nramp; NRAMP (natural resistance-associated macrophage protein) metal ion transporters
      pfam01566
      Location:78 → 463
      Nramp; Natural resistance-associated macrophage protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      218382273..218396894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246793.5 → XP_005246850.1  natural resistance-associated macrophage protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005246850.1

      UniProtKB/TrEMBL
      B4E0J2
      Conserved Domains (2) summary
      TIGR01197
      Location:1 → 389
      nramp; NRAMP (natural resistance-associated macrophage protein) metal ion transporters
      pfam01566
      Location:11 → 396
      Nramp; Natural resistance-associated macrophage protein
    2. XM_006712711.5 → XP_006712774.1  natural resistance-associated macrophage protein 1 isoform X4

      UniProtKB/TrEMBL
      B4E0J2
      Conserved Domains (2) summary
      pfam01566
      Location:1 → 314
      Nramp; Natural resistance-associated macrophage protein
      cl00456
      Location:1 → 307
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    3. XM_047445574.1 → XP_047301530.1  natural resistance-associated macrophage protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DQ73, B9ZVN3
    4. XM_047445575.1 → XP_047301531.1  natural resistance-associated macrophage protein 1 isoform X5

    5. XM_017004766.3 → XP_016860255.1  natural resistance-associated macrophage protein 1 isoform X1

      UniProtKB/TrEMBL
      B4E0J2
      Conserved Domains (2) summary
      TIGR01197
      Location:1 → 389
      nramp; NRAMP (natural resistance-associated macrophage protein) metal ion transporters
      pfam01566
      Location:11 → 396
      Nramp; Natural resistance-associated macrophage protein
    6. XM_047445573.1 → XP_047301529.1  natural resistance-associated macrophage protein 1 isoform X2

      UniProtKB/TrEMBL
      B4E0J2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      218868403..218883023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343500.1 → XP_054199475.1  natural resistance-associated macrophage protein 1 isoform X1

      UniProtKB/TrEMBL
      B4E0J2
    2. XM_054343504.1 → XP_054199479.1  natural resistance-associated macrophage protein 1 isoform X4

      UniProtKB/TrEMBL
      B4E0J2
    3. XM_054343503.1 → XP_054199478.1  natural resistance-associated macrophage protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DQ73, B9ZVN3
    4. XM_054343505.1 → XP_054199480.1  natural resistance-associated macrophage protein 1 isoform X5

    5. XM_054343501.1 → XP_054199476.1  natural resistance-associated macrophage protein 1 isoform X1

      UniProtKB/TrEMBL
      B4E0J2
    6. XM_054343502.1 → XP_054199477.1  natural resistance-associated macrophage protein 1 isoform X2

      UniProtKB/TrEMBL
      B4E0J2

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