Aliases for TFRC Gene
External Ids for TFRC Gene
Previous GeneCards Identifiers for TFRC Gene
This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
GeneCards Summary for TFRC Gene
TFRC (Transferrin Receptor) is a Protein Coding gene. Diseases associated with TFRC include Immunodeficiency 46 and Iron Deficiency Anemia. Among its related pathways are Hematopoietic cell lineage and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include double-stranded RNA binding. An important paralog of this gene is TFR2.
UniProtKB/Swiss-Prot Summary for TFRC Gene
Cellular 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. Positively regulates T and B cell proliferation through iron uptake (PubMed:26642240).
(Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.