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FLASH GENE
Symbol TFRC contributors: mct/npt/pgu - updated : 10-09-2017
HGNC name transferrin receptor (p90, CD71)
HGNC id 11763
Corresponding disease
IMD46 Immunodeficiency 46
Location 3q29      Physical location : 195.776.155 - 195.809.032
Synonym name
  • cell differentiation antigen CD71
  • CD71 antigen
  • Synonym symbol(s) CD71, TFR, TRFR, TFR1, TFNR, p90, TR, IMD46, T9
    DNA
    TYPE functioning gene
    STRUCTURE 32.88 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status provisional
    Map cen - D3S1601 - D3S3669 - D3S2344 ,TFRC - D3S1311 - qter
    Physical map
    FLJ90022 3q29 hypothetical protein FLJ90022 LOC285303 3q29 similar to MGC27169 protein FLJ35155 3q29 hypothetical protein FLJ35155 CENTB2 3q29 centaurin, beta 2 PPP1R2 3q29 protein phosphatase 1, regulatory (inhibitor) subunit 2 LOC391606 3 similar to ribosomal protein L24 LOC255812 3q29 hypothetical protein LOC255812 LOC389187 3 LOC389187 MUC20 3q29 mucin 20 MUC4 3q29 mucin 4, tracheobronchial LOC285253 3q29 similar to SPBPJ4664.02 ACK1 3q29 activated Cdc42-associated kinase 1 LOC391607 3 hypothetical gene supported by AJ271448; NM_174907 LOC375386 3q29 similar to Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor (Fp) (Flavoprotein subunit of complex II) LOC391608 3 hypothetical gene supported by AJ271448; NM_174907 TFRC 3q29 transferrin receptor (p90, CD71) ZDHHC19 3q29 zinc finger, DHHC domain containing 19 OSTalpha 3q29 organic solute transporter alpha PCYT1A 3q21-q28 phosphate cytidylyltransferase 1, choline, alpha isoform MGC33212 3q29 hypothetical protein MGC33212 LOC116211 3q29 hypothetical protein BC013113 KIAA0794 3q29 hypothetical protein BC013113 LOC389188 3 LOC389188 FLJ35794 3q29 hypothetical protein FLJ35794 LOC255798 3q29 hypothetical protein LOC255798 MGC64882 3q29 hypothetical protein MGC64882 LOC200933 3q29 hypothetical protein LOC200933 LOC389189 3 LOC389189 UNQ3030 3q29 ELLP3030 MGC14126 3q29 hypothetical protein MGC14126 FLJ20522 3q29 hypothetical protein FLJ20522 PAK2 3q29 p21 (CDKN1A)-activated kinase 2 MGC27076 3q29 hypothetical protein MGC27076 NCBP2 3q29 nuclear cap binding protein subunit 2, 20kDa LOC152217 3q29 hypothetical protein BC007882 SMP3 3q29 SMP3 mannosyltransferase LOC389190 3 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) MFI2 3q28-q29 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 LOC391609 3 similar to immediate early protein homolog DLG1 3q29 discs, large (Drosophila) homolog 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 5100 - 760 - 2017 28551638
    19 - 5241 - 760 - 2017 28551638
    17 - 4695 - 478 - 2017 28551638
    18 - 4891 - 679 - 2017 28551638
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestine     Homo sapiens
     liver   highly Homo sapiens
     mouth   highly
    Nervousspinal cord    
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroid Homo sapiensFetal
    Digestiveenterocyte
    Digestiveepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • TFRC-N-Terminal fragment that is subject to regulated intramembrane proteolysis
  • a protease associated (PA) domain
  • an M28 peptidase domain
  • a transferrin receptor-like dimerization domain
  • conjugated GlycoP , LipoP , PhosphoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to rattus Tfrc (76.5 pc)
    homolog to murine Tfrc (77.3 pc)
    Homologene
    FAMILY
  • peptidase M28 family
  • M28B subfamily
  • CATEGORY receptor , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • associated with HEF in crypt cells, type 2 membrane protein
  • cytoplasmic membrane-bound vesicle
  • single-pass type II membrane protein
  • basic FUNCTION
  • playing a necessary role for development of erythrocytes and the nervous system
  • involved in the cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes
  • required for c-Myc-mediated cellular proliferation and cell size control
  • its inhibition decreases cellular proliferation and results in G1 arrest without affecting cell size, and alters expression of genes that regulate the cell cycle
  • mitochondrial biogenesis orchestrated by PPRGC1B, coupled with iron uptake through TFRC and iron supply to mitochondrial respiratory proteins, is a fundamental pathway linked to osteoclast activation and bone metabolism
  • is a mitochondrial regulator
  • facilitates cellular iron uptake through receptor-mediated endocytosis of iron-loaded transferrin
  • implicated in homeostatic maintenance of the intestinal epithelium, acting through a role that is independent of its iron-uptake function
  • importance of TFRC in adaptive immunity
  • important iron transporter regulating iron homeostasis that has long been used as a marker for clathrin mediated endocytosis
  • function in iron transport
  • transferrin-bound iron is known to be delivered to cells by TFRC after internalization via clathrin-mediated endocytosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    text
  • iron homeostasis
  • iron ion transport
  • PATHWAY
    metabolism
    signaling
    a component
  • homodimer disulfide-linked
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding one transferrin or HFE molecule per subunit
  • binding to the HLA class II histocompatibility antigen, DR1
  • interacting with SH3BP3
  • critical downstream target of c-Myc
  • interacting with WWC1 (although suppression of WWC1 and dynein perturbs early endosome-to-endocytic recycling compartment transport, TFRC sorting is maintained
  • interacting with TF through a loop in the N-lobe of serum transferrin that is critical for binding to the transferrin receptor
  • important receptor for FTH1
  • critical role for RBSN in determining the fate of TFRC internalized by clathrin-mediated endocytosis
  • new function for TFRC in the control of IKK and NFKB1
  • SPPL2A, and mainly SPPL2B are responsible for the intramembrane proteolysis of TFRC-N-terminal fragment
  • TFRC has an important role in SPHK1-mediated oncogenesis
  • TXLNA interacts with SNX4 and plays a role in the recycling pathway of TFRC
  • STEAP3, a metalloreductase expressed in erythroblasts, associates with TFRC and partially rescues transferrin uptake
  • functions as a regulator to control AMPA receptor trafficking efficiency and synaptic plasticity
  • role of EGFR in modulating cellular iron homeostasis through redistribution of TFRC, which is essential for cancer development and progression
  • cell & other
    REGULATION
    Other regulated by cellular iron levels through binding of the iron regulatory proteins, IRP1 and IRP2, to iron-responsive elements in the 3 prime-UTR
    up-regulated upon mitogenic stimulation
    its levels are regulated by cellular iron levels
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD46
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in hepatoma cells due to a combination of iron deficiency and chemical hypoxia
    tumoral     --over  
    highly expressed in glioblastomas and associated with shorter survival (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • it can be reliably used as an independent erythroid marker for immunohistochemical analysis of the marrow
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    drugs that increase TFRC palmitoylation, are possible therapeutic approaches in the treatment of NBIA and also in more common neurodegenerative disorders, including Parkinson disease, where brain iron accumulation is also reported
    ANIMAL & CELL MODELS
  • mice lacking Tfr1 in the heart died in the second week of life and had cardiomegaly, poor cardiac function, failure of mitochondrial respiration, and ineffective mitophagy