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Aliases for SLC11A1 Gene

Aliases for SLC11A1 Gene

  • Solute Carrier Family 11 Member 1 2 3 4 5
  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporter), Member 1 2 3
  • Natural Resistance-Associated Macrophage Protein 1 2 3
  • NRAMP 1 3 4
  • NRAMP1 3 4
  • NRAMP 3 4
  • LSH 3 4
  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters), Member 1 3
  • Solute Carrier Family 11 (Sodium/Phosphate Symporters), Member 1 3

External Ids for SLC11A1 Gene

Previous HGNC Symbols for SLC11A1 Gene

  • LSH
  • NRAMP
  • NRAMP1

Previous GeneCards Identifiers for SLC11A1 Gene

  • GC02P217262
  • GC02P217968
  • GC02P219210
  • GC02P219450
  • GC02P219449
  • GC02P219072
  • GC02P218955
  • GC02P219246
  • GC02P211100

Summaries for SLC11A1 Gene

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 Member 1) is a Protein Coding gene. Diseases associated with SLC11A1 include Buruli Ulcer and Mycobacterium Tuberculosis 1. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metal ion SLC transporters. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and manganese ion transmembrane transporter activity. An important paralog of this gene is SLC11A2.

UniProtKB/Swiss-Prot for SLC11A1 Gene

  • 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

Additional gene information for SLC11A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC11A1 Gene

Genomics for SLC11A1 Gene

GeneHancer (GH) Regulatory Elements for SLC11A1 Gene

Promoters and enhancers for SLC11A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I218381 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 556.9 +1.4 1438 3.6 CTCF FOXA2 HLF ZSCAN4 CEBPB MAX CEBPG FOXA1 POLR2A GLIS1 SLC11A1 TMBIM1 PNKD AAMP CATIP CTDSP1
GH02I218366 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 47.5 -11.9 -11891 6.8 HDGF SMAD1 ATF1 SIN3A YY1 ETS1 POLR2B ZNF207 ZNF143 ATF7 GC02M218358 CATIP-AS1 SLC11A1 ENSG00000261338 ARPC2 CXCR2 CXCR1 CATIP PNKD CNOT9
GH02I218730 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 37.8 +350.9 350924 4.6 FOXA2 MLX ARNT ARID4B SIN3A YY1 SLC30A9 FOS SP5 NFYC SLC11A1 BCS1L CYP27A1 PLCD4 NHEJ1 ANKZF1 SLC23A3 AAMP GMPPA RNF25
GH02I218281 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.3 -91.5 -91528 17.9 MLX DMAP1 IRF4 YY1 ZNF143 SP3 NFYC MEF2D GLIS1 RCOR2 TMBIM1 ENSG00000261338 SLC11A1 ANKZF1 CTDSP1 MIR26B CNOT9 ARPC2 PNKD CATIP-AS1
GH02I217897 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.1 -479.3 -479262 9.9 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS TNS1 MIR6809 SLC11A1 LOC105373878 RUFY4 PNKD ARPC2 TMBIM1 GC02P217941
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC11A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC11A1 gene promoter:

Genomic Locations for SLC11A1 Gene

Genomic Locations for SLC11A1 Gene
chr2:218,381,766-218,396,894
(GRCh38/hg38)
Size:
15,129 bases
Orientation:
Plus strand
chr2:219,246,752-219,261,617
(GRCh37/hg19)

Genomic View for SLC11A1 Gene

Genes around SLC11A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC11A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC11A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC11A1 Gene

Proteins for SLC11A1 Gene

  • Protein details for SLC11A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49279-NRAM1_HUMAN
    Recommended name:
    Natural resistance-associated macrophage protein 1
    Protein Accession:
    P49279
    Secondary Accessions:
    • C0H5Y3

    Protein attributes for SLC11A1 Gene

    Size:
    550 amino acids
    Molecular mass:
    59872 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC11A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC11A1 Gene

Post-translational modifications for SLC11A1 Gene

  • Glycosylation at posLast=324324 and isoforms=2338
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC11A1 Gene

Domains & Families for SLC11A1 Gene

Gene Families for SLC11A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC11A1 Gene

Graphical View of Domain Structure for InterPro Entry

P49279

UniProtKB/Swiss-Prot:

NRAM1_HUMAN :
  • Belongs to the NRAMP family.
Family:
  • Belongs to the NRAMP family.
genes like me logo Genes that share domains with SLC11A1: view

Function for SLC11A1 Gene

Molecular function for SLC11A1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
In response to lymphokine or bacterial products.

Phenotypes From GWAS Catalog for SLC11A1 Gene

Gene Ontology (GO) - Molecular Function for SLC11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005384 manganese ion transmembrane transporter activity ISS,IEA --
GO:0042803 protein homodimerization activity IDA 8537108
GO:0046873 metal ion transmembrane transporter activity IEA --
GO:0046915 transition metal ion transmembrane transporter activity IGI 17932044
genes like me logo Genes that share ontologies with SLC11A1: view
genes like me logo Genes that share phenotypes with SLC11A1: view

Human Phenotype Ontology for SLC11A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC11A1 Gene

MGI Knock Outs for SLC11A1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC11A1 Gene

Localization for SLC11A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC11A1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC11A1 gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 4
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005764 lysosome ISS,IEA --
GO:0005770 late endosome ISS,IEA --
GO:0005886 plasma membrane TAS,IMP --
GO:0005887 integral component of plasma membrane NAS 8537108
genes like me logo Genes that share ontologies with SLC11A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC11A1 Gene

Pathways & Interactions for SLC11A1 Gene

genes like me logo Genes that share pathways with SLC11A1: view

Pathways by source for SLC11A1 Gene

Gene Ontology (GO) - Biological Process for SLC11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001818 negative regulation of cytokine production ISS --
GO:0001819 positive regulation of cytokine production ISS,IEA --
GO:0002309 T cell proliferation involved in immune response IEA,ISS --
GO:0002369 T cell cytokine production ISS,IEA --
GO:0002606 positive regulation of dendritic cell antigen processing and presentation ISS,IEA --
genes like me logo Genes that share ontologies with SLC11A1: view

No data available for SIGNOR curated interactions for SLC11A1 Gene

Drugs & Compounds for SLC11A1 Gene

(10) Drugs for SLC11A1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37

(6) Additional Compounds for SLC11A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with SLC11A1: view

Transcripts for SLC11A1 Gene

Unigene Clusters for SLC11A1 Gene

Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC11A1 Gene

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: - - - - -
SP6:
SP7:
SP8:
SP9:

ExUns: 16b · 16c ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:

Relevant External Links for SLC11A1 Gene

GeneLoc Exon Structure for
SLC11A1
ECgene alternative splicing isoforms for
SLC11A1

Expression for SLC11A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC11A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC11A1 Gene

This gene is overexpressed in Whole Blood (x34.2).

Protein differential expression in normal tissues from HIPED for SLC11A1 Gene

This gene is overexpressed in Kidney (60.6) and Monocytes (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC11A1 Gene



Protein tissue co-expression partners for SLC11A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC11A1 Gene:

SLC11A1

SOURCE GeneReport for Unigene cluster for SLC11A1 Gene:

Hs.591607

mRNA Expression by UniProt/SwissProt for SLC11A1 Gene:

P49279-NRAM1_HUMAN
Tissue specificity: Macrophages; peripheral blood leukocytes, lung, spleen and liver.

Evidence on tissue expression from TISSUES for SLC11A1 Gene

  • Blood(4.8)
  • Spleen(4.5)
  • Lung(2.6)
  • Intestine(2.4)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with SLC11A1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC11A1 Gene

Orthologs for SLC11A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC11A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC11A1 33
  • 99.64 (n)
NRAMP1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC11A1 33 34
  • 88.85 (n)
cow
(Bos Taurus)
Mammalia SLC11A1 33 34
  • 88.6 (n)
mouse
(Mus musculus)
Mammalia Slc11a1 33 16 34
  • 83.49 (n)
rat
(Rattus norvegicus)
Mammalia Slc11a1 33
  • 83.14 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC11A1 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC11A1 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC11A1 33 34
  • 74.35 (n)
lizard
(Anolis carolinensis)
Reptilia SLC11A1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc11a1 33
  • 69.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mvl 35 34
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea smf-1 35 34
  • 53 (a)
smf-2 35 34
  • 52 (a)
smf-3 34
  • 49 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMF3 34
  • 29 (a)
ManyToMany
SMF2 34
  • 27 (a)
ManyToMany
SMF1 34
  • 25 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NRAMP4 33
  • 54.36 (n)
rice
(Oryza sativa)
Liliopsida Os03g0208500 33
  • 56.67 (n)
Species where no ortholog for SLC11A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SLC11A1 Gene

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

Paralogs for SLC11A1 Gene

Paralogs for SLC11A1 Gene

(2) SIMAP similar genes for SLC11A1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC11A1: view

Variants for SLC11A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC11A1 Gene

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].

Sequence variations from dbSNP and Humsavar for SLC11A1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs17235409 risk-factor, Buruli ulcer, susceptibility to 218,395,009(+) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000189829 -- 218,390,065(+) C/T intron_variant
rs1000204732 -- 218,390,444(+) T/A intron_variant
rs1000331553 -- 218,395,095(+) G/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1000448969 -- 218,388,048(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC11A1 Gene

Variant ID Type Subtype PubMed ID
nsv3166 CNV insertion 18451855
nsv519829 CNV loss 19592680

Variation tolerance for SLC11A1 Gene

Residual Variation Intolerance Score: 77.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC11A1 Gene

Human Gene Mutation Database (HGMD)
SLC11A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC11A1

Disorders for SLC11A1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for SLC11A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
buruli ulcer
  • buruli ulcer, susceptibility to
mycobacterium tuberculosis 1
  • mycobacterium tuberculosis, susceptibility to, 1
typhoid fever
  • typhoid
tularemia
  • deerfly fever
pulmonary tuberculosis
  • tuberculosis, pulmonary
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC11A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC11A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC11A1 Gene

Publications for SLC11A1 Gene

  1. Susceptibility to Buruli ulcer is associated with the SLC11A1 (NRAMP1) D543N polymorphism. (PMID: 16395392) Stienstra Y … van der Steege G (Genes and immunity 2006) 3 4 22 44 58
  2. Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease. (PMID: 16103355) Malik S … Schurr E (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 44 58
  3. Human natural resistance-associated macrophage protein: cDNA cloning, chromosomal mapping, genomic organization, and tissue-specific expression. (PMID: 7964458) Cellier M … Gros P (The Journal of experimental medicine 1994) 2 3 4 22 58
  4. Genetic susceptibility to Behçet's syndrome is associated with NRAMP1 (SLC11A1) polymorphism in Turkish patients. (PMID: 18998137) Ateş O … Topal-Sarikaya A (Rheumatology international 2009) 3 22 44 58
  5. NRAMP1 (SLC11A1) gene polymorphisms that correlate with autoimmune versus infectious disease susceptibility in tuberculosis and rheumatoid arthritis. (PMID: 19055603) Ates O … Topal-Sarikaya A (International journal of immunogenetics 2009) 3 22 44 58

Products for SLC11A1 Gene

Sources for SLC11A1 Gene

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