Human Gene SLC11A1 (ENST00000233202.11) from GENCODE V44
Description: Homo sapiens solute carrier family 11 member 1 (SLC11A1), mRNA. (from RefSeq NM_000578) RefSeq Summary (NM_000578): 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]. Gencode Transcript: ENST00000233202.11 Gencode Gene: ENSG00000018280.17 Transcript (Including UTRs) Position: hg38 chr2:218,382,273-218,396,894 Size: 14,622 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr2:218,382,369-218,395,035 Size: 12,667 Coding Exon Count: 15
ID:NRAM1_HUMAN DESCRIPTION: RecName: Full=Natural resistance-associated macrophage protein 1; Short=NRAMP 1; 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. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable). TISSUE SPECIFICITY: Macrophages; peripheral blood leukocytes, lung, spleen and liver. INDUCTION: In response to lymphokine or bacterial products. POLYMORPHISM: Genetic variation in SLC11A1 is associated with susceptibility to infection with Mycobacterium ulcerans [MIM:610446]. POLYMORPHISM: Genetic variations in SLC11A1 determine Mycobacterium tuberculosis susceptibility [MIM:607948]. SIMILARITY: Belongs to the NRAMP family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01566 - Natural resistance-associated macrophage protein
ModBase Predicted Comparative 3D Structure on P49279
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005384 manganese ion transmembrane transporter activity GO:0042803 protein homodimerization activity GO:0046873 metal ion transmembrane transporter activity GO:0046915 transition metal ion transmembrane transporter activity GO:0051139 metal ion:proton antiporter activity
Biological Process: GO:0001818 negative regulation of cytokine production GO:0001819 positive regulation of cytokine production GO:0002309 T cell proliferation involved in immune response GO:0002369 T cell cytokine production GO:0002606 positive regulation of dendritic cell antigen processing and presentation GO:0002827 positive regulation of T-helper 1 type immune response GO:0006811 ion transport GO:0006826 iron ion transport GO:0006828 manganese ion transport GO:0006876 cellular cadmium ion homeostasis GO:0006879 cellular iron ion homeostasis GO:0006909 phagocytosis GO:0006954 inflammatory response GO:0007035 vacuolar acidification GO:0009617 response to bacterium GO:0010628 positive regulation of gene expression GO:0015707 nitrite transport GO:0019730 antimicrobial humoral response GO:0030001 metal ion transport GO:0032147 activation of protein kinase activity GO:0032496 response to lipopolysaccharide GO:0032623 interleukin-2 production GO:0032632 interleukin-3 production GO:0032729 positive regulation of interferon-gamma production GO:0034341 response to interferon-gamma GO:0042060 wound healing GO:0042116 macrophage activation GO:0042742 defense response to bacterium GO:0042832 defense response to protozoan GO:0043312 neutrophil degranulation GO:0045342 MHC class II biosynthetic process GO:0045454 cell redox homeostasis GO:0045730 respiratory burst GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048002 antigen processing and presentation of peptide antigen GO:0048255 mRNA stabilization GO:0050766 positive regulation of phagocytosis GO:0050829 defense response to Gram-negative bacterium GO:0055072 iron ion homeostasis GO:0060586 multicellular organismal iron ion homeostasis GO:0070574 cadmium ion transmembrane transport GO:0070839 divalent metal ion export GO:0071421 manganese ion transmembrane transport GO:1902023 L-arginine transport
AK307954 - Homo sapiens cDNA, FLJ97902. D50402 - Homo sapiens mRNA for NRAMP1, complete cds. AB209650 - Homo sapiens mRNA for solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 variant protein. AK310914 - Homo sapiens cDNA, FLJ17956. AK303398 - Homo sapiens cDNA FLJ54317 complete cds, highly similar to Natural resistance-associated macrophage protein 1. AK298667 - Homo sapiens cDNA FLJ60324 complete cds, highly similar to Natural resistance-associated macrophage protein 1. AK311405 - Homo sapiens cDNA, FLJ18447. D50403 - Homo sapiens mRNA for NRAMP1, complete cds. AK294707 - Homo sapiens cDNA FLJ53784 complete cds, highly similar to Natural resistance-associated macrophage protein 1. BC041787 - Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1, mRNA (cDNA clone IMAGE:4717241), with apparent retained intron. L32185 - Homo sapiens integral membrane protein (NRAMP1) mRNA, complete cds. BC071165 - Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1, mRNA (cDNA clone MGC:90282 IMAGE:5756382), complete cds. BC033754 - Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1, mRNA (cDNA clone IMAGE:5212319). BC037550 - Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1, mRNA (cDNA clone IMAGE:5213746), with apparent retained intron. D38171 - Homo sapiens mRNA for Nramp, complete cds. CU687102 - Synthetic construct Homo sapiens gateway clone IMAGE:100022910 5' read SLC11A1 mRNA. KJ904563 - Synthetic construct Homo sapiens clone ccsbBroadEn_13957 SLC11A1 gene, encodes complete protein. JD488059 - Sequence 469083 from Patent EP1572962. JD441792 - Sequence 422816 from Patent EP1572962. JD329884 - Sequence 310908 from Patent EP1572962. JD119543 - Sequence 100567 from Patent EP1572962. JD120565 - Sequence 101589 from Patent EP1572962. JD379676 - Sequence 360700 from Patent EP1572962. JD094120 - Sequence 75144 from Patent EP1572962. JD311802 - Sequence 292826 from Patent EP1572962. JD076646 - Sequence 57670 from Patent EP1572962. JD177608 - Sequence 158632 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04142 - Lysosome
Reactome (by CSHL, EBI, and GO)
Protein P49279 (Reactome details) participates in the following event(s):
R-HSA-435171 NRAMP1 transports divalent metal ions across phagosomal membranes of macrophages R-HSA-6798747 Exocytosis of tertiary granule membrane proteins R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins R-HSA-425410 Metal ion SLC transporters R-HSA-1222556 ROS, RNS production in phagocytes R-HSA-6803544 Ion influx/efflux at host-pathogen interface R-HSA-6798695 Neutrophil degranulation R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-168249 Innate Immune System R-HSA-6803157 Antimicrobial peptides R-HSA-425407 SLC-mediated transmembrane transport R-HSA-168256 Immune System R-HSA-382551 Transport of small molecules
US Server
