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MGP003116

UniProt Annotations

Entry Information
Gene Nametransferrin receptor
Protein EntryTFR1_HUMAN
UniProt IDP02786
SpeciesHuman
Comments
Comment typeDescription
FunctionCellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. {ECO:0000250, ECO:0000269|PubMed:3568132}.
InductionRegulated by cellular iron levels through binding of the iron regulatory proteins, IRP1 and IRP2, to iron-responsive elements in the 3'-UTR. Up-regulated upon mitogenic stimulation.
InteractionSelf; NbExp=2; IntAct=EBI-355727, EBI-355727; P02768:ALB; NbExp=2; IntAct=EBI-355727, EBI-714423; Q9P0V3:SH3BP4; NbExp=6; IntAct=EBI-355727, EBI-1049513;
MiscellaneousCanine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to enter and infect cells.
MiscellaneousSerum transferrin receptor (sTfR) is used as a means of detecting erythropoietin (EPO) misuse by athletes and as a diagnostic test for anemia resulting from a number of conditions including rheumatoid arthritis, pregnancy, irritable bowel syndrome and in HIV patients.
PtmN- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated. {ECO:0000269|PubMed:1421756, ECO:0000269|PubMed:1421757, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:3582362}.
PtmPalmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation. {ECO:0000269|PubMed:3582362}.
PtmProteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR).
Sequence CautionSequence=BAD92491.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the peptidase M28 family. M28B subfamily. {ECO:0000305}.
SimilarityContains 1 PA (protease associated) domain. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:17081065}; Single-pass type II membrane protein {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Subcellular LocationTransferrin receptor protein 1, serum form: Secreted.
SubunitHomodimer; disulfide-linked. Binds one transferrin or HFE molecule per subunit. Binds the HLA class II histocompatibility antigen, DR1. Interacts with SH3BP3. Interacts with Machupo arenavirus GPC. {ECO:0000269|PubMed:16325581, ECO:0000269|PubMed:17287727}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TFRCID259ch3q29.html";
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