Natural resistance-associated macrophage protein 1

Protein-coding gene in the species Homo sapiens
SLC11A1
Identifiers
AliasesSLC11A1, LSH, NRAMP, NRAMP1, solute carrier family 11 member 1
External IDsOMIM: 600266; MGI: 1345275; HomoloGene: 73884; GeneCards: SLC11A1; OMA:SLC11A1 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SLC11A1
Genomic location for SLC11A1
Band2q35Start218,382,029 bp[1]
End218,396,894 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for SLC11A1
Genomic location for SLC11A1
Band1 C3|1 38.54 cMStart74,414,354 bp[2]
End74,425,221 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lung

  • upper lobe of left lung

  • granulocyte

  • monocyte

  • blood

  • spleen

  • buccal mucosa cell

  • left uterine tube

  • left adrenal cortex

  • bone marrow cells
Top expressed in
  • granulocyte

  • stroma of bone marrow

  • spleen

  • internal carotid artery

  • mesenteric lymph nodes

  • tibiofemoral joint

  • morula

  • ciliary body

  • blood

  • carotid body
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • manganese ion transmembrane transporter activity
  • protein homodimerization activity
  • transition metal ion transmembrane transporter activity
  • metal ion:proton antiporter activity
  • metal ion transmembrane transporter activity
  • cadmium ion transmembrane transporter activity
  • iron ion transmembrane transporter activity
Cellular component
  • integral component of membrane
  • late endosome
  • phagocytic vesicle membrane
  • membrane
  • late endosome membrane
  • integral component of plasma membrane
  • lysosome
  • endosome membrane
  • plasma membrane
  • tertiary granule membrane
  • ficolin-1-rich granule membrane
Biological process
  • manganese ion transmembrane transport
  • interleukin-3 production
  • positive regulation of phagocytosis
  • response to bacterium
  • response to interferon-gamma
  • positive regulation of cytokine production
  • iron ion homeostasis
  • positive regulation of interferon-gamma production
  • wound healing
  • ion transport
  • cellular cadmium ion homeostasis
  • cell redox homeostasis
  • T cell proliferation involved in immune response
  • vacuolar acidification
  • respiratory burst
  • multicellular organismal iron ion homeostasis
  • mRNA stabilization
  • response to lipopolysaccharide
  • antigen processing and presentation of peptide antigen
  • positive regulation of dendritic cell antigen processing and presentation
  • positive regulation of gene expression
  • iron ion transport
  • defense response to bacterium
  • positive regulation of T-helper 1 type immune response
  • MHC class II biosynthetic process
  • defense response to Gram-negative bacterium
  • cadmium ion transmembrane transport
  • phagocytosis
  • manganese ion transport
  • nitrite transport
  • macrophage activation
  • inflammatory response
  • T cell cytokine production
  • interleukin-2 production
  • negative regulation of cytokine production
  • activation of protein kinase activity
  • positive regulation of transcription by RNA polymerase II
  • cellular iron ion homeostasis
  • defense response to protozoan
  • antimicrobial humoral response
  • neutrophil degranulation
  • metal ion transport
  • iron ion transmembrane transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6556

18173

Ensembl

ENSG00000018280

ENSMUSG00000026177

UniProt

P49279

P41251

RefSeq (mRNA)

NM_000578
NM_001032220

NM_013612

RefSeq (protein)

NP_000569

NP_038640

Location (UCSC)Chr 2: 218.38 – 218.4 MbChr 1: 74.41 – 74.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Natural resistance-associated macrophage protein 1 is a protein that in humans is encoded by the SLC11A1 gene.[5][6][7]

Function

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's disease.[8] Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[7]

See also

  • Solute carrier family

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000018280 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026177 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Cellier M, Govoni G, Vidal S, Kwan T, Groulx N, Liu J, Sanchez F, Skamene E, Schurr E, Gros P (November 1994). "Human natural resistance-associated macrophage protein: cDNA cloning, chromosomal mapping, genomic organization, and tissue-specific expression". The Journal of Experimental Medicine. 180 (5): 1741–52. doi:10.1084/jem.180.5.1741. PMC 2191750. PMID 7964458.
  6. ^ Kishi F (November 1994). "Isolation and characterization of human Nramp cDNA". Biochemical and Biophysical Research Communications. 204 (3): 1074–80. doi:10.1006/bbrc.1994.2572. PMID 7980580.
  7. ^ a b "Entrez Gene: SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1".
  8. ^ Teras IuKh, Ryĭgas EM, Kazakova II, Ranne KhP, Trapido LE (1980). "[Detection of Trichomonas in the bronchi, sputum and oral cavity in various lung diseases]". Terapevticheskii Arkhiv. 52 (3): 123–5. PMID 7385031.

Further reading

  • Blackwell JM, Searle S, Mohamed H, White JK (January 2003). "Divalent cation transport and susceptibility to infectious and autoimmune disease: continuation of the Ity/Lsh/Bcg/Nramp1/Slc11a1 gene story". Immunology Letters. 85 (2): 197–203. doi:10.1016/S0165-2478(02)00231-6. PMID 12527228.
  • Awomoyi AA (April 2007). "The human solute carrier family 11 member 1 protein (SLC11A1): linking infections, autoimmunity and cancer?". FEMS Immunology and Medical Microbiology. 49 (3): 324–9. doi:10.1111/j.1574-695X.2007.00231.x. PMC 1890654. PMID 17378896.
  • Liu J, Fujiwara TM, Buu NT, Sánchez FO, Cellier M, Paradis AJ, Frappier D, Skamene E, Gros P, Morgan K (April 1995). "Identification of polymorphisms and sequence variants in the human homologue of the mouse natural resistance-associated macrophage protein gene". American Journal of Human Genetics. 56 (4): 845–53. PMC 1801220. PMID 7717395.
  • Vidal SM, Malo D, Vogan K, Skamene E, Gros P (May 1993). "Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg". Cell. 73 (3): 469–85. doi:10.1016/0092-8674(93)90135-D. PMID 8490962. S2CID 54294811.
  • Blackwell JM, Barton CH, White JK, Searle S, Baker AM, Williams H, Shaw MA (January 1995). "Genomic organization and sequence of the human NRAMP gene: identification and mapping of a promoter region polymorphism". Molecular Medicine. 1 (2): 194–205. doi:10.1007/BF03401567. PMC 2229945. PMID 8529098.
  • Kishi F, Nobumoto M (1996). "Identification of natural resistance-associated macrophage protein in peripheral blood lymphocytes". Immunology Letters. 47 (1–2): 93–6. doi:10.1016/0165-2478(95)00070-L. PMID 8537108.
  • Gruenheid S, Pinner E, Desjardins M, Gros P (February 1997). "Natural resistance to infection with intracellular pathogens: the Nramp1 protein is recruited to the membrane of the phagosome". The Journal of Experimental Medicine. 185 (4): 717–30. doi:10.1084/jem.185.4.717. PMC 2196151. PMID 9034150.
  • Atkinson PG, Blackwell JM, Barton CH (August 1997). "Nramp1 locus encodes a 65 kDa interferon-gamma-inducible protein in murine macrophages". The Biochemical Journal. 325. 325 ( Pt 3) (3): 779–86. doi:10.1042/bj3250779. PMC 1218623. PMID 9271100.
  • Gruenheid S, Canonne-Hergaux F, Gauthier S, Hackam DJ, Grinstein S, Gros P (March 1999). "The iron transport protein NRAMP2 is an integral membrane glycoprotein that colocalizes with transferrin in recycling endosomes". The Journal of Experimental Medicine. 189 (5): 831–41. doi:10.1084/jem.189.5.831. PMC 2192949. PMID 10049947.
  • Searle S, Blackwell JM (April 1999). "Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility". Journal of Medical Genetics. 36 (4): 295–9. doi:10.1136/jmg.36.4.295. PMC 1734346. PMID 10227396.
  • Marquet S, Lepage P, Hudson TJ, Musser JM, Schurr E (September 2000). "Complete nucleotide sequence and genomic structure of the human NRAMP1 gene region on chromosome region 2q35". Mammalian Genome. 11 (9): 755–62. doi:10.1007/s003350010151. PMID 10967134. S2CID 11308779.
  • Canonne-Hergaux F, Calafat J, Richer E, Cellier M, Grinstein S, Borregaard N, Gros P (July 2002). "Expression and subcellular localization of NRAMP1 in human neutrophil granules". Blood. 100 (1): 268–75. doi:10.1182/blood.V100.1.268. PMID 12070036.
  • Rodríguez MR, González-Escribano MF, Aguilar F, Valenzuela A, García A, Núñez-Roldán A (April 2002). "Association of NRAMP1 promoter gene polymorphism with the susceptibility and radiological severity of rheumatoid arthritis". Tissue Antigens. 59 (4): 311–5. doi:10.1034/j.1399-0039.2002.590410.x. PMID 12135431.
  • Bassuny WM, Ihara K, Matsuura N, Ahmed S, Kohno H, Kuromaru R, Miyako K, Hara T (July 2002). "Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes". Immunogenetics. 54 (4): 282–5. doi:10.1007/s00251-002-0459-3. PMID 12136340. S2CID 19801943.
  • Søborg C, Andersen AB, Madsen HO, Kok-Jensen A, Skinhøj P, Garred P (August 2002). "Natural resistance-associated macrophage protein 1 polymorphisms are associated with microscopy-positive tuberculosis". The Journal of Infectious Diseases. 186 (4): 517–21. doi:10.1086/341775. PMID 12195379.
  • Puzyrev VP, Freĭdin MB, Rudko AA, Strelis AK, Kolokolova OV (2002). "[Polymorphisms of the candidate genes for genetic susceptibility to tuberculosis in the Slavic population of Siberia: a pilot study]". Molekuliarnaia Biologiia. 36 (5): 788–91. PMID 12391841.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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Membrane proteins, carrier proteins: membrane transport proteins solute carrier (TC 2A)
By group
SLC1–10
(1):
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(2):
(3):
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(8):
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(9):
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SLC11–20
(11):
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SLC21–30
(21):
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SLC31–40
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  • basolateral iron transporter
SLC41–48
(41):
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(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter, Cotransporter
  • Na+/K+,Cl−
  • Na+/Pi3
  • Na+/Cl−
  • Na+/glucose
  • Na+/I−
  • Cl−/K+
Antiporter (exchanger)
  • Na+/H+
  • Na+/Ca2+
    • Na+/(Ca2+-K+) - Cl−/HCO−
      3       (Band 3)
  • Cl−-formate
  • Cl−-oxalate
see also solute carrier disorders


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