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    TFRC transferrin receptor [ Homo sapiens (human) ]

    Gene ID: 7037, updated on 22-Apr-2017
    Official Symbol
    TFRCprovided by HGNC
    Official Full Name
    transferrin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:11763
    See related
    Ensembl:ENSG00000072274 MIM:190010; Vega:OTTHUMG00000155714
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    T9; TR; TFR; p90; CD71; TFR1; TRFR; IMD46
    Summary
    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]
    Orthologs
    Location:
    3q29
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (196049284..196082161, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195776155..195809032, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene mucin-1-like Neighboring gene serine/threonine-protein phosphatase 4 regulatory subunit 2-like Neighboring gene uncharacterized LOC105374300 Neighboring gene uncharacterized LOC107986030 Neighboring gene RNA, U7 small nuclear 18 pseudogene Neighboring gene long intergenic non-protein coding RNA 885 Neighboring gene uncharacterized LOC105374303

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Immunodeficiency 46
    MedGen: CN234781 OMIM: 616740 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Treatment of CD4+ T lymphocytes with HIV-1 gp120 before anti-CD3 stimulation impedes cell cycle progression as measured by reduced CD71 expression PubMed
    env CD4+ T cells infected with CCR5-tropic HIV-1 have significantly higher levels of activation-marker expression (e.g. CD25, CD71 and HLA-DR) than CD4+ T lymphocytes infected with CXCR4-tropic HIV-1 PubMed
    Envelope surface glycoprotein gp160, precursor env Immunoblot of sucrose fractions to lipid raft marker Flotillin-1 and non-lipid raft marker TfR shows that HIV-1 Gag and Env interact with both Flotillin-1 and TfR in cells PubMed
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of transferrin receptor (TFRC, TfR, p90, CD71) PubMed
    nef HIV-1 Nef modulates the trafficking of transferrin receptor (TfR), the prototypical recycling surface protein, with the dileucine motif (amino acids 164-5) in Nef being required for this alteration of TfR recycling PubMed
    nef Treatment of uninfected and acutely or chronically infected MT-4 and H9 T-cells with exogenous HIV-1 Nef downregulates the expression of CD71 PubMed
    Pr55(Gag) gag Immunoblot of sucrose fractions to lipid raft marker Flotillin-1 and non-lipid raft marker TfR shows that HIV-1 Gag and Env interact with both Flotillin-1 and TfR in cells PubMed
    Tat tat Transferrin receptor protein (TFRC) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of transferrin receptor 1 (TFR1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of transferrin receptor (TFRC, TfR, p90, CD71) PubMed
    vpu HIV-1 Vpu predominantly co-localizes to the detergent-soluble fractions with a non-raft protein TfR and partially partitions to the detergent-resistant membrane fractions with a raft protein flotillin 1 PubMed

    Go to the HIV-1, Human Interaction Database

    • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
      HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Iron metabolism in placenta, organism-specific biosystem (from WikiPathways)
      Iron metabolism in placenta, organism-specific biosystemDuring pregnancy, iron is transported from mother to fetus across the placenta. Iron is essential for many biological processes, including the transfer of oxygen in blood, but it can also be toxic. E...
    • Iron uptake and transport, organism-specific biosystem (from REACTOME)
      Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
      Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional activation, organism-specific biosystem
      Validated targets of C-MYC transcriptional activation
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferrin receptor activity IC
    Inferred by Curator
    more info
    PubMed 
    transferrin receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transferrin transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular iron ion homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular response to drug IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron ion import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane organization TAS
    Traceable Author Statement
    more info
     
    osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of B cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of isotype switching IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transferrin transport IC
    Inferred by Curator
    more info
    PubMed 
    transferrin transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transferrin transport TAS
    Traceable Author Statement
    more info
     
    viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transferrin receptor protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046395.1 RefSeqGene

      Range
      5001..37878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128148.2NP_001121620.1  transferrin receptor protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001121620.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC001188, BX537966, CF994006, X01060
      Consensus CDS
      CCDS3312.1
      UniProtKB/Swiss-Prot
      P02786
      UniProtKB/TrEMBL
      Q7Z3E0
      Related
      ENSP00000353224.4, OTTHUMP00000208523, ENST00000360110.8, OTTHUMT00000341346
      Conserved Domains (3) summary
      cd09848
      Location:385610
      M28_TfR; M28 Zn-peptidase Transferrin Receptor family
      cd02128
      Location:201377
      PA_TfR; PA_TfR: Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 ...
      pfam04253
      Location:642750
      TFR_dimer; Transferrin receptor-like dimerization domain
    2. NM_001313965.1NP_001300894.1  transferrin receptor protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate 5' exon and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC024937, BC001188, BX537966
      Consensus CDS
      CCDS82891.1
      UniProtKB/Swiss-Prot
      P02786
      UniProtKB/TrEMBL
      G3V0E5, Q7Z3E0
      Related
      ENSP00000390133.1, OTTHUMP00000208525, ENST00000420415.5, OTTHUMT00000341348
      Conserved Domains (3) summary
      cd09848
      Location:304529
      M28_TfR; M28 Zn-peptidase Transferrin Receptor family
      cd02128
      Location:120296
      PA_TfR; PA_TfR: Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 ...
      pfam04253
      Location:561669
      TFR_dimer; Transferrin receptor-like dimerization domain
    3. NM_001313966.1NP_001300895.1  transferrin receptor protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate 5' exons and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC024937, AK294758, BC001188
      UniProtKB/Swiss-Prot
      P02786
      UniProtKB/TrEMBL
      B7Z2I6
      Conserved Domains (3) summary
      cd09848
      Location:103328
      M28_TfR; M28 Zn-peptidase Transferrin Receptor family
      pfam04253
      Location:360468
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:195
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    4. NM_003234.3NP_003225.2  transferrin receptor protein 1 isoform 1

      See identical proteins and their annotated locations for NP_003225.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK291723, BC001188, BX537966, X01060
      Consensus CDS
      CCDS3312.1
      UniProtKB/Swiss-Prot
      P02786
      UniProtKB/TrEMBL
      A8K6Q8, Q7Z3E0
      Related
      ENSP00000376197.3, OTTHUMP00000208524, ENST00000392396.7, OTTHUMT00000341347
      Conserved Domains (3) summary
      cd09848
      Location:385610
      M28_TfR; M28 Zn-peptidase Transferrin Receptor family
      cd02128
      Location:201377
      PA_TfR; PA_TfR: Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 ...
      pfam04253
      Location:642750
      TFR_dimer; Transferrin receptor-like dimerization domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      196049284..196082161 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      195747516..195780405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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