TFRC gene

transferrin receptor

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

(Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.

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).

From NCBI Gene:

  • Immunodeficiency 46

From UniProt:

Immunodeficiency 46 (IMD46): An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia. [MIM:616740]

Cytogenetic Location: 3q29, which is the long (q) arm of chromosome 3 at position 29

Molecular Location: base pairs 196,049,284 to 196,082,161 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q29, which is the long (q) arm of chromosome 3 at position 29
  • CD71
  • IMD46
  • p90
  • T9
  • TFR
  • TFR1
  • TR
  • TRFR