InnateDB Protein
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IDBP-593136.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC11A2
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Protein Name
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solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
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Synonyms
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DCT1; DMT1; NRAMP2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000449008
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InnateDB Gene
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IDBG-32924 (SLC11A2)
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Protein Structure
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Function |
Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. {ECO:0000269PubMed:17109629}.
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Subcellular Localization |
Endosome membrane {ECO:0000269PubMed:18776082}; Multi-pass membrane protein {ECO:0000269PubMed:18776082}.
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Disease Associations |
Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]: A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. {ECO:0000269PubMed:15459009, ECO:0000269PubMed:16160008, ECO:0000269PubMed:16439678}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed. Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed in spleen, thymus and pancreas. Isoform 3 and isoform 4 are abundantly expressed in duodenum and kidney. {ECO:0000269PubMed:12209011, ECO:0000269PubMed:9642100}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005215
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transporter activity
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GO:0005375
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copper ion transmembrane transporter activity
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GO:0005384
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manganese ion transmembrane transporter activity
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GO:0005385
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zinc ion transmembrane transporter activity
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GO:0005515
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protein binding
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GO:0015086
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cadmium ion transmembrane transporter activity
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GO:0015087
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cobalt ion transmembrane transporter activity
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GO:0015093
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ferrous iron transmembrane transporter activity
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GO:0015094
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lead ion transmembrane transporter activity
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GO:0015099
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nickel cation transmembrane transporter activity
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GO:0015100
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vanadium ion transmembrane transporter activity
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GO:0015295
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solute:proton symporter activity
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GO:0022890
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inorganic cation transmembrane transporter activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001046
NRAMP family
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PFAM |
PF01566
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PRINTS |
PR00447
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P49281
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PhosphoSite |
PhosphoSite-P49281
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TrEMBL |
F8W1F2
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UniProt Splice Variant |
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Entrez Gene |
4891
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UniGene |
Hs.743108
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RefSeq |
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HUGO |
HGNC:10908
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OMIM |
600523
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CCDS |
CCDS53792
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HPRD |
02750
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IMGT |
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EMBL |
AB004857
AB015355
AB062284
AC087884
AF046997
AF064476
AF064477
AF064478
AF064479
AF064480
AF064481
AF064482
AF064483
AF064484
AJ493662
AK094735
AK296445
AK316507
BC002592
BC100014
CH471111
L37347
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GenPept |
AAA79219
AAC18078
AAC21459
AAC21460
AAC21461
AAH02592
AAI00015
BAA24933
BAA34374
BAB93467
BAG52920
BAG59096
BAH14878
CAD38517
EAW58159
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