SLC11A1: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Natural resistance-associated macrophage protein 1''' is a [[protein]] that in humans is encoded by the ''SLC11A1'' [[gene]].<ref name="pmid7964458">{{cite journal | vauthors = Cellier M, Govoni G, Vidal S, Kwan T, Groulx N, Liu J, Sanchez F, Skamene E, Schurr E, Gros P | title = Human natural resistance-associated macrophage protein: cDNA cloning, chromosomal mapping, genomic organization, and tissue-specific expression | journal = The Journal of Experimental Medicine | volume = 180 | issue = 5 | pages = 1741–52 | date = November 1994 | pmid = 7964458 | pmc = 2191750 | doi = 10.1084/jem.180.5.1741 }}</ref><ref name="pmid7980580">{{cite journal | vauthors = Kishi F | title = Isolation and characterization of human Nramp cDNA | journal = Biochemical and Biophysical Research Communications | volume = 204 | issue = 3 | pages = 1074–80 | date = November 1994 | pmid = 7980580 | pmc = | doi = 10.1006/bbrc.1994.2572 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6556| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
| HGNCid = 10907
| Symbol = SLC11A1
| AltSymbols =; LSH; NRAMP; NRAMP1
| OMIM = 600266
| ECnumber = 
| Homologene = 73884
| MGIid = 1345275
| GeneAtlas_image1 = PBB_GE_SLC11A1_210423_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_SLC11A1_210422_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_SLC11A1_217473_x_at_tn.png
| Function = {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006826 |text = iron ion transport}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0009617 |text = response to bacterium}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6556
    | Hs_Ensembl = ENSG00000018280
    | Hs_RefseqProtein = NP_000569
    | Hs_RefseqmRNA = NM_000578
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 218955203
    | Hs_GenLoc_end = 218968994
    | Hs_Uniprot = P49279
    | Mm_EntrezGene = 18173
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_013612
    | Mm_RefseqProtein = NP_038640
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1''', also known as '''SLC11A1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6556| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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. [[Mutation]]s 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]].<ref>{{cite journal | vauthors = ((Teras IuKh)), Ryĭgas EM, ((Kazakova II)), ((Ranne KhP)), Trapido LE | title = [Detection of Trichomonas in the bronchi, sputum and oral cavity in various lung diseases] | journal = Terapevticheskii Arkhiv | volume = 52 | issue = 3 | pages = 123–5 | year = 1980 | pmid = 7385031 | doi =  }}</ref> Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6556| accessdate = }}</ref>
}}


==See also==
== See also ==
* [[Solute carrier family]]
* [[Solute carrier family]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Blackwell JM, Searle S, Mohamed H, White JK | title = Divalent cation transport and susceptibility to infectious and autoimmune disease: continuation of the Ity/Lsh/Bcg/Nramp1/Slc11a1 gene story | journal = Immunology Letters | volume = 85 | issue = 2 | pages = 197–203 | date = January 2003 | pmid = 12527228 | doi = 10.1016/S0165-2478(02)00231-6 }}
| citations =
* {{cite journal | vauthors = Awomoyi AA | title = The human solute carrier family 11 member 1 protein (SLC11A1): linking infections, autoimmunity and cancer? | journal = FEMS Immunology and Medical Microbiology | volume = 49 | issue = 3 | pages = 324–9 | date = April 2007 | pmid = 17378896 | pmc = 1890654 | doi = 10.1111/j.1574-695X.2007.00231.x }}
*{{cite journal | author=Blackwell JM, Searle S, Mohamed H, White JK |title=Divalent cation transport and susceptibility to infectious and autoimmune disease: continuation of the Ity/Lsh/Bcg/Nramp1/Slc11a1 gene story. |journal=Immunol. Lett. |volume=85 |issue= 2 |pages= 197-203 |year= 2003 |pmid= 12527228 |doi= }}
* {{cite journal | vauthors = Liu J, Fujiwara TM, Buu NT, Sánchez FO, Cellier M, Paradis AJ, Frappier D, Skamene E, Gros P, Morgan K | title = Identification of polymorphisms and sequence variants in the human homologue of the mouse natural resistance-associated macrophage protein gene | journal = American Journal of Human Genetics | volume = 56 | issue = 4 | pages = 845–53 | date = April 1995 | pmid = 7717395 | pmc = 1801220 | doi =  }}
*{{cite journal | author=Awomoyi AA |title=The human solute carrier family 11 member 1 protein (SLC11A1): linking infections, autoimmunity and cancer? |journal=FEMS Immunol. Med. Microbiol. |volume=49 |issue= 3 |pages= 324-9 |year= 2007 |pmid= 17378896 |doi= 10.1111/j.1574-695X.2007.00231.x }}
* {{cite journal | vauthors = Vidal SM, Malo D, Vogan K, Skamene E, Gros P | title = Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg | journal = Cell | volume = 73 | issue = 3 | pages = 469–85 | date = May 1993 | pmid = 8490962 | doi = 10.1016/0092-8674(93)90135-D }}
*{{cite journal | author=Liu J, Fujiwara TM, Buu NT, ''et al.'' |title=Identification of polymorphisms and sequence variants in the human homologue of the mouse natural resistance-associated macrophage protein gene. |journal=Am. J. Hum. Genet. |volume=56 |issue= 4 |pages= 845-53 |year= 1995 |pmid= 7717395 |doi=  }}
* {{cite journal | vauthors = Blackwell JM, Barton CH, White JK, Searle S, Baker AM, Williams H, Shaw MA | title = Genomic organization and sequence of the human NRAMP gene: identification and mapping of a promoter region polymorphism | journal = Molecular Medicine | volume = 1 | issue = 2 | pages = 194–205 | date = January 1995 | pmid = 8529098 | pmc = 2229945 | doi =  }}
*{{cite journal  | author=Cellier M, Govoni G, Vidal S, ''et al.'' |title=Human natural resistance-associated macrophage protein: cDNA cloning, chromosomal mapping, genomic organization, and tissue-specific expression. |journal=J. Exp. Med. |volume=180 |issue= 5 |pages= 1741-52 |year= 1994 |pmid= 7964458 |doi=  }}
* {{cite journal | vauthors = Kishi F, Nobumoto M | title = Identification of natural resistance-associated macrophage protein in peripheral blood lymphocytes | journal = Immunology Letters | volume = 47 | issue = 1-2 | pages = 93–6 | year = 1996 | pmid = 8537108 | doi = 10.1016/0165-2478(95)00070-L }}
*{{cite journal | author=Kishi F |title=Isolation and characterization of human Nramp cDNA. |journal=Biochem. Biophys. Res. Commun. |volume=204 |issue= 3 |pages= 1074-80 |year= 1994 |pmid= 7980580 |doi= 10.1006/bbrc.1994.2572 }}
* {{cite journal | vauthors = Gruenheid S, Pinner E, Desjardins M, Gros P | title = Natural resistance to infection with intracellular pathogens: the Nramp1 protein is recruited to the membrane of the phagosome | journal = The Journal of Experimental Medicine | volume = 185 | issue = 4 | pages = 717–30 | date = February 1997 | pmid = 9034150 | pmc = 2196151 | doi = 10.1084/jem.185.4.717 }}
*{{cite journal  | author=Vidal SM, Malo D, Vogan K, ''et al.'' |title=Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg. |journal=Cell |volume=73 |issue= 3 |pages= 469-85 |year= 1993 |pmid= 8490962 |doi= }}
* {{cite journal | vauthors = Atkinson PG, Blackwell JM, Barton CH | title = Nramp1 locus encodes a 65 kDa interferon-gamma-inducible protein in murine macrophages | journal = The Biochemical Journal | volume = 325 ( Pt 3) | issue =  | pages = 779–86 | date = August 1997 | pmid = 9271100 | pmc = 1218623 | doi =  | series = 325 }}
*{{cite journal | author=Blackwell JM, Barton CH, White JK, ''et al.'' |title=Genomic organization and sequence of the human NRAMP gene: identification and mapping of a promoter region polymorphism. |journal=Mol. Med. |volume=1 |issue= 2 |pages= 194-205 |year= 1996 |pmid= 8529098 |doi=  }}
* {{cite journal | vauthors = Gruenheid S, Canonne-Hergaux F, Gauthier S, Hackam DJ, Grinstein S, Gros P | title = The iron transport protein NRAMP2 is an integral membrane glycoprotein that colocalizes with transferrin in recycling endosomes | journal = The Journal of Experimental Medicine | volume = 189 | issue = 5 | pages = 831–41 | date = March 1999 | pmid = 10049947 | pmc = 2192949 | doi = 10.1084/jem.189.5.831 }}
*{{cite journal | author=Kishi F, Nobumoto M |title=Identification of natural resistance-associated macrophage protein in peripheral blood lymphocytes. |journal=Immunol. Lett. |volume=47 |issue= 1-2 |pages= 93-6 |year= 1996 |pmid= 8537108 |doi= }}
* {{cite journal | vauthors = Searle S, Blackwell JM | title = Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility | journal = Journal of Medical Genetics | volume = 36 | issue = 4 | pages = 295–9 | date = April 1999 | pmid = 10227396 | pmc = 1734346 | doi = 10.1136/jmg.36.4.295 }}
*{{cite journal | author=Gruenheid S, Pinner E, Desjardins M, Gros P |title=Natural resistance to infection with intracellular pathogens: the Nramp1 protein is recruited to the membrane of the phagosome. |journal=J. Exp. Med. |volume=185 |issue= 4 |pages= 717-30 |year= 1997 |pmid= 9034150 |doi= }}
* {{cite journal | vauthors = Marquet S, Lepage P, Hudson TJ, Musser JM, Schurr E | title = Complete nucleotide sequence and genomic structure of the human NRAMP1 gene region on chromosome region 2q35 | journal = Mammalian Genome | volume = 11 | issue = 9 | pages = 755–62 | date = September 2000 | pmid = 10967134 | doi = 10.1007/s003350010151 }}
*{{cite journal | author=Atkinson PG, Blackwell JM, Barton CH |title=Nramp1 locus encodes a 65 kDa interferon-gamma-inducible protein in murine macrophages. |journal=Biochem. J. |volume=325 ( Pt 3) |issue=  |pages= 779-86 |year= 1997 |pmid= 9271100 |doi=  }}
* {{cite journal | vauthors = Canonne-Hergaux F, Calafat J, Richer E, Cellier M, Grinstein S, Borregaard N, Gros P | title = Expression and subcellular localization of NRAMP1 in human neutrophil granules | journal = Blood | volume = 100 | issue = 1 | pages = 268–75 | date = July 2002 | pmid = 12070036 | doi = 10.1182/blood.V100.1.268 }}
*{{cite journal | author=Gruenheid S, Canonne-Hergaux F, Gauthier S, ''et al.'' |title=The iron transport protein NRAMP2 is an integral membrane glycoprotein that colocalizes with transferrin in recycling endosomes. |journal=J. Exp. Med. |volume=189 |issue= 5 |pages= 831-41 |year= 1999 |pmid= 10049947 |doi= }}
* {{cite journal | vauthors = Rodríguez MR, González-Escribano MF, Aguilar F, Valenzuela A, García A, Núñez-Roldán A | title = Association of NRAMP1 promoter gene polymorphism with the susceptibility and radiological severity of rheumatoid arthritis | journal = Tissue Antigens | volume = 59 | issue = 4 | pages = 311–5 | date = April 2002 | pmid = 12135431 | doi = 10.1034/j.1399-0039.2002.590410.x }}
*{{cite journal | author=Searle S, Blackwell JM |title=Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility. |journal=J. Med. Genet. |volume=36 |issue= 4 |pages= 295-9 |year= 1999 |pmid= 10227396 |doi= }}
* {{cite journal | vauthors = Bassuny WM, Ihara K, Matsuura N, Ahmed S, Kohno H, Kuromaru R, Miyako K, Hara T | title = Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes | journal = Immunogenetics | volume = 54 | issue = 4 | pages = 282–5 | date = July 2002 | pmid = 12136340 | doi = 10.1007/s00251-002-0459-3 }}
*{{cite journal | author=Marquet S, Lepage P, Hudson TJ, ''et al.'' |title=Complete nucleotide sequence and genomic structure of the human NRAMP1 gene region on chromosome region 2q35. |journal=Mamm. Genome |volume=11 |issue= 9 |pages= 755-62 |year= 2000 |pmid= 10967134 |doi= }}
* {{cite journal | vauthors = Søborg C, Andersen AB, Madsen HO, Kok-Jensen A, Skinhøj P, Garred P | title = Natural resistance-associated macrophage protein 1 polymorphisms are associated with microscopy-positive tuberculosis | journal = The Journal of Infectious Diseases | volume = 186 | issue = 4 | pages = 517–21 | date = August 2002 | pmid = 12195379 | doi = 10.1086/341775 }}
*{{cite journal | author=Canonne-Hergaux F, Calafat J, Richer E, ''et al.'' |title=Expression and subcellular localization of NRAMP1 in human neutrophil granules. |journal=Blood |volume=100 |issue= 1 |pages= 268-75 |year= 2002 |pmid= 12070036 |doi= }}
* {{cite journal | vauthors = Puzyrev VP, Freĭdin MB, Rudko AA, Strelis AK, Kolokolova OV | title = [Polymorphisms of the candidate genes for genetic susceptibility to tuberculosis in the Slavic population of Siberia: a pilot study] | journal = Molekuliarnaia Biologiia | volume = 36 | issue = 5 | pages = 788–91 | year = 2002 | pmid = 12391841 | doi =  }}
*{{cite journal | author=Rodríguez MR, González-Escribano MF, Aguilar F, ''et al.'' |title=Association of NRAMP1 promoter gene polymorphism with the susceptibility and radiological severity of rheumatoid arthritis. |journal=Tissue Antigens |volume=59 |issue= 4 |pages= 311-5 |year= 2003 |pmid= 12135431 |doi= }}
*{{cite journal | author=Bassuny WM, Ihara K, Matsuura N, ''et al.'' |title=Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes. |journal=Immunogenetics |volume=54 |issue= 4 |pages= 282-5 |year= 2002 |pmid= 12136340 |doi= 10.1007/s00251-002-0459-3 }}
*{{cite journal | author=Søborg C, Andersen AB, Madsen HO, ''et al.'' |title=Natural resistance-associated macrophage protein 1 polymorphisms are associated with microscopy-positive tuberculosis. |journal=J. Infect. Dis. |volume=186 |issue= 4 |pages= 517-21 |year= 2002 |pmid= 12195379 |doi= }}
*{{cite journal | author=Puzyrev VP, Freĭdin MB, Rudko AA, ''et al.'' |title=[Polymorphisms of the candidate genes for genetic susceptibility to tuberculosis in the Slavic population of Siberia: a pilot study] |journal=Mol. Biol. (Mosk.) |volume=36 |issue= 5 |pages= 788-91 |year= 2002 |pmid= 12391841 |doi=  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
{{Iron metabolism}}
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}
 
{{membrane-protein-stub}}

Latest revision as of 06:26, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Natural resistance-associated macrophage protein 1 is a protein that in humans is encoded by the SLC11A1 gene.[1][2][3]

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.[4] Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[3]

See also

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1".
  4. ↑ 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

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

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