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TFRC transferrin receptor [ Homo sapiens (human) ]

Gene ID: 7037, updated on 1-Jun-2020

Summary

Official Symbol
TFRCprovided by HGNC
Official Full Name
transferrin receptorprovided by HGNC
Primary source
HGNC:HGNC:11763
See related
Ensembl:ENSG00000072274 MIM:190010
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

Genomic context

See TFRC in Genome Data Viewer
Location:
3q29
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (196018694..196082123, 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 succinate dehydrogenase complex flavoprotein subunit A pseudogene 1 Neighboring gene mucin-1-like Neighboring gene serine/threonine-protein phosphatase 4 regulatory subunit 2-like Neighboring gene RNA, U7 small nuclear 18 pseudogene Neighboring gene long intergenic non-protein coding RNA 885 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5812

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
Immunodeficiency 46
MedGen: C4225219 OMIM: 616740 GeneReviews: Not available
Compare labs

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

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
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 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
transferrin receptor activity IC
Inferred by Curator
more info
PubMed 
transferrin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transferrin receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular iron ion homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to drug IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
iron ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion transport IDA
Inferred from Direct Assay
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
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 gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of isotype switching IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
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 HDA PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cell surface ISS
Inferred from Sequence or Structural Similarity
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 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
external side of plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
extracellular vesicle HDA 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 

General protein information

Preferred Names
transferrin receptor protein 1

NCBI Reference Sequences (RefSeq)

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
    P02786
    UniProtKB/TrEMBL
    Q7Z3E0
    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/Swiss-Prot
    P02786
    UniProtKB/TrEMBL
    G3V0E5, Q7Z3E0
    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
    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_003234.4NP_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
    P02786
    UniProtKB/TrEMBL
    A8K6Q8, Q7Z3E0
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    196018694..196082123 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453732.1XP_024309500.1  transferrin receptor protein 1 isoform X1

    Conserved Domains (2) summary
    cd09848
    Location:385610
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    cd02128
    Location:201377
    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 family. ...
  2. XM_024453731.1XP_024309499.1  transferrin receptor protein 1 isoform X1

    Conserved Domains (2) summary
    cd09848
    Location:385610
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    cd02128
    Location:201377
    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 family. ...

RNA

  1. XR_002959578.1 RNA Sequence

  2. XR_002959576.1 RNA Sequence

  3. XR_002959575.1 RNA Sequence

  4. XR_002959577.1 RNA Sequence

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