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    TFRC transferrin receptor [ Homo sapiens (human) ]

    Gene ID: 7037, updated on 27-Nov-2024

    Summary

    Official Symbol
    TFRCprovided by HGNC
    Official Full Name
    transferrin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:11763
    See related
    Ensembl:ENSG00000072274 MIM:190010; AllianceGenome:HGNC:11763
    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]
    Expression
    Broad expression in bone marrow (RPKM 101.5), placenta (RPKM 60.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TFRC in Genome Data Viewer
    Location:
    3q29
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196049284..196082090, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (198738962..198802440, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195776155..195808961, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195782376-195782901 Neighboring gene ARL8B pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:195784876-195785377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195807213-195807712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15053 Neighboring gene RNA, U7 small nuclear 18 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr3:195812346-195812518 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:195819312-195819500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15054 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:195840246-195840363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15055 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195853055-195853556 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:195861292-195861451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195862621-195863421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21067 Neighboring gene long intergenic non-protein coding RNA 885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21071 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195913396-195914015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195914016-195914634 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195917731-195918349 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195919335-195919998 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195924959-195925904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195929545-195930080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195930123-195930624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195930625-195931124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15058 Neighboring gene zinc finger DHHC-type palmitoyltransferase 19

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    TFRC-related combined immunodeficiency
    MedGen: C5568133 OMIM: 616740 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    HIV-1 interactions

    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
    Vif vif HIV-1 Vif interacts with TFRC 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp70 protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transferrin receptor activity IC
    Inferred by Curator
    more info
    PubMed 
    enables transferrin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transferrin receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cellular response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular iron ion homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in intracellular signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in iron ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in iron ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in multicellular organismal-level iron ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of B cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of isotype switching IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to iron ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to manganese ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in symbiont entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transferrin transport IC
    Inferred by Curator
    more info
    PubMed 
    involved_in transferrin transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in blood microparticle HDA PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in external side of plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    located_in extracellular vesicle HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transferrin receptor protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5072..37878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128148.3NP_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
      D3DXB0, P02786, Q1HE24, Q59G55, Q9UCN0, Q9UCU5, Q9UDF9, Q9UK21
      UniProtKB/TrEMBL
      A8K6Q8
      Related
      ENSP00000353224.4, ENST00000360110.9
      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_001313965.2NP_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/TrEMBL
      A8K6Q8, G3V0E5
      Related
      ENSP00000390133.1, ENST00000420415.5
      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_001313966.2NP_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
      Consensus CDS
      CCDS93444.1
      UniProtKB/TrEMBL
      A0A8V8TM46, B7Z2I6
      Related
      ENSP00000513650.1, ENST00000698285.1
      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_003234.4NP_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
      D3DXB0, P02786, Q1HE24, Q59G55, Q9UCN0, Q9UCU5, Q9UDF9, Q9UK21
      UniProtKB/TrEMBL
      A8K6Q8
      Related
      ENSP00000376197.3, ENST00000392396.7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196049284..196082090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448786.1XP_047304742.1  transferrin receptor protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TM46
      Related
      ENSP00000513655.1, ENST00000698294.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      198738962..198802440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347662.1XP_054203637.1  transferrin receptor protein 1 isoform X2

    2. XM_054347660.1XP_054203635.1  transferrin receptor protein 1 isoform X2

    3. XM_054347663.1XP_054203638.1  transferrin receptor protein 1 isoform X2

    4. XM_054347661.1XP_054203636.1  transferrin receptor protein 1 isoform X2

    5. XM_054347664.1XP_054203639.1  transferrin receptor protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TM46

    RNA

    1. XR_008486786.1 RNA Sequence

    2. XR_008486785.1 RNA Sequence

    3. XR_008486783.1 RNA Sequence

    4. XR_008486782.1 RNA Sequence

    5. XR_008486784.1 RNA Sequence

    6. XR_008486781.1 RNA Sequence

    7. XR_008486780.1 RNA Sequence