Homo sapiens Protein: SLC11A2
Summary
InnateDB Protein IDBP-240614.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC11A2
Protein Name solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
Synonyms DCT1; DMT1; NRAMP2;
Species Homo sapiens
Ensembl Protein ENSP00000378364
InnateDB Gene IDBG-32924 (SLC11A2)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Endosome membrane {ECO:0000269PubMed:18776082}; Multi-pass membrane protein {ECO:0000269PubMed:18776082}.
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.
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}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005375 copper ion transmembrane transporter activity
GO:0005381 iron ion transmembrane transporter activity
GO:0005384 manganese ion transmembrane transporter activity
GO:0005385 zinc ion transmembrane transporter activity
GO:0005506 iron ion binding
GO:0005507 copper ion binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0015078 hydrogen ion transmembrane transporter activity
GO:0015086 cadmium ion transmembrane transporter activity
GO:0015087 cobalt ion transmembrane transporter activity
GO:0015093 ferrous iron transmembrane transporter activity
GO:0015094 lead ion transmembrane transporter activity
GO:0015099 nickel cation transmembrane transporter activity
GO:0015100 vanadium ion transmembrane transporter activity
GO:0015295 solute:proton symporter activity
GO:0016151 nickel cation binding
GO:0022890 inorganic cation transmembrane transporter activity
GO:0030145 manganese ion binding
GO:0046870 cadmium ion binding
GO:0050897 cobalt ion binding
Biological Process
GO:0000041 transition metal ion transport
GO:0001666 response to hypoxia
GO:0003032 detection of oxygen
GO:0006778 porphyrin-containing compound metabolic process
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0006783 heme biosynthetic process
GO:0006810 transport
GO:0006824 cobalt ion transport
GO:0006825 copper ion transport
GO:0006826 iron ion transport
GO:0006828 manganese ion transport
GO:0006878 cellular copper ion homeostasis
GO:0006879 cellular iron ion homeostasis
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007611 learning or memory
GO:0010039 response to iron ion
GO:0010042 response to manganese ion
GO:0010288 response to lead ion
GO:0015675 nickel cation transport
GO:0015676 vanadium ion transport
GO:0015684 ferrous iron transport
GO:0015692 lead ion transport
GO:0015992 proton transport
GO:0034599 cellular response to oxidative stress
GO:0035444 nickel cation transmembrane transport
GO:0046686 response to cadmium ion
GO:0048813 dendrite morphogenesis
GO:0048821 erythrocyte development
GO:0055085 transmembrane transport
GO:0060586 multicellular organismal iron ion homeostasis
GO:0070574 cadmium ion transmembrane transport
GO:0070627 ferrous iron import
GO:0071281 cellular response to iron ion
GO:0071356 cellular response to tumor necrosis factor
GO:0071421 manganese ion transmembrane transport
GO:0071456 cellular response to hypoxia
GO:0071577 zinc ion transmembrane transport
GO:1902600 hydrogen ion transmembrane transport
GO:1902861 copper ion import into cell
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005773 vacuole
GO:0005802 trans-Golgi network
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005903 brush border
GO:0009986 cell surface
GO:0012505 endomembrane system
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0031902 late endosome membrane
GO:0045177 apical part of cell
GO:0045178 basal part of cell
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
GO:0070826 paraferritin complex
Protein Structure and Domains
PDB ID
InterPro IPR001046 NRAMP family
PFAM PF01566
PRINTS PR00447
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P49281
PhosphoSite PhosphoSite-P49281
TrEMBL F8W1P7
UniProt Splice Variant
Entrez Gene 4891
UniGene Hs.743108
RefSeq NP_001167596
HUGO HGNC:10908
OMIM 600523
CCDS CCDS53793
HPRD 02750
IMGT
EMBL AB004857 AB015355 AB062284 AC087884 AF046997 AF064476 AF064477 AF064478 AF064479 AF064480 AF064481 AF064482 AF064483 AF064484 AJ493662 AK094735 AK128640 AK296445 AK316507 BC002592 BC100014 CH471111 L37347
GenPept AAA79219 AAC18078 AAC21459 AAC21460 AAC21461 AAH02592 AAI00015 BAA24933 BAA34374 BAB93467 BAG52920 BAG54706 BAG59096 BAH14878 CAD38517 EAW58159 EAW58161