TFRC transferrin receptor (p90, CD71) [Homo sapiens (human)] - Gene

Summary

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Official Symbol: TFRCprovided by HGNC
Official Full Name: transferrin receptor (p90, CD71)provided by HGNC
Primary source: HGNC:11763
See related: Ensembl:ENSG00000072274; HPRD:01812; MIM:190010; Vega:OTTHUMG00000155714
Gene type: protein coding
RefSeq status: VALIDATED
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

Genomic context

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Location :: 3q29

Sequence :: Chromosome: 3; NC_000003.11 (195776155..195809032, complement)

See TFRC in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

TfR1 N-terminal fragment is a substrate for intramembrane proteolysis by SPPL2b.
Title: The transferrin receptor-1 membrane stub undergoes intramembrane proteolysis by signal peptide peptidase-like 2b.
CD71 expression was analyzed on the bone marrow blastic cells by flow cytometry.
Title: Cytometric evaluation of transferrin receptor 1 (CD71) in childhood acute lymphoblastic leukemia.
Transfection of cDNA expressing stable form of HIF-1alpha reversed the increased TfR1 expression and iron uptake. These results suggest a novel role of insulin in hepatic iron uptake by a HIF-1 dependent transcriptional regulation of TfR1
Title: Insulin promotes iron uptake in human hepatic cell by regulating transferrin receptor-1 transcription mediated by hypoxia inducible factor-1.
The usefulness of soluble transferrin receptor (sTfR) and of the sTfR/log ferritin index(sTfR/logF) in the differentiation of anemia in young children, was evaluated.
Title: The usefulness of soluble transferrin receptor (sTfR) in differentiating anemia occurring in young children.
A new function for TfR1 is indicated in the control of inhibitor of NF-kappaB (IKK) and nuclear factor (NF)-kappaB subunits.
Title: TfR1 interacts with the IKK complex and is involved in IKK-NF-κB signalling.
There is a correlation between high expression of TFR1 on tumor cells from males with non-small-cell lung cancer that is associated with higher values of inflammation parameters (alpha-1 globulin and alpha-2 globulin) and lower erythrocyte sedimentation rate.
Title: Altered iron metabolism, inflammation, transferrin receptors, and ferritin expression in non-small-cell lung cancer.
On binding to apical CD71, SIgA (with or without gliadin peptides) enters a recycling pathway and avoids lysosomal degradation, allowing transcytosis of bound peptides. This process may be facilitated by Tgase2 in celiac disease.
Title: Interactions among secretory immunoglobulin A, CD71, and transglutaminase-2 affect permeability of intestinal epithelial cells to gliadin peptides.
In children with sickle cell disease, elevated sTfR is related to hypererythropoietic activity and does not correlate with ferritin and inflammatory status or disease severity.
Title: Utility of plasma transferrin receptor, ferritin and inflammatory markers in children with sickle cell disease.
Findings may facilitate the rational design and clinical use of therapeutic agents targeting iron import via TfR1 in hematopoietic malignancies.
Title: Lethal iron deprivation induced by non-neutralizing antibodies targeting transferrin receptor 1 in malignant B cells.
Elevated serum soluble transferrin receptor in infants is associated with congenital hypothyroidism.
Title: Elevated serum ferritin and soluble transferrin receptor in infants with congenital hypothyroidism.

Submit: New GeneRIF Correction See all (123)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Seventy-five genetic loci influencing the human red blood cell.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	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
	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
Nef, p27	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
	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
Vpu, p16	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 Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_003225.1	NP_055531.1	ACAP1	BIND	PubMed	ACAP1 interacts with TfR.
NP_003225.1	NP_001054.1	TF	BIND	PubMed	Tf interacts with TfR.
P02786	Q15027	ACAP1	HPRD	PubMed
P02786	P20963	CD247	HPRD	PubMed
P02786	P01730	CD4	HPRD	PubMed
P02786	O95166	GABARAP	HPRD	PubMed
P02786	Q30201	HFE	HPRD	PubMed
P02786	P61020	RAB5B	HPRD	PubMed
P02786	Q96S59	RANBP9	HPRD	PubMed
P02786	P02787	TF	HPRD	PubMed
P02786	P02786	TFRC	HPRD	PubMed
BioGRID:112895	BioGRID:223223	AI837181	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:19954	AT5G46630	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:107776	ATF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:107008	ATP6V1B1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:108950	B4GALT1	BioGRID	PubMed	Reconstituted Complex
BioGRID:112895	BioGRID:107149	BST2	BioGRID	PubMed	Co-localization
BioGRID:112895	BioGRID:108403	ESR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:117654	FBXO6	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:112895	BioGRID:108621	FN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:116465	GABARAP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:112895	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:109325	HFE	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:112895	BioGRID:114593	HGS	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:109883	ITGA4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:109941	KCNA3	BioGRID	PubMed	Co-fractionation
BioGRID:112895	BioGRID:109943	KCNA5	BioGRID	PubMed	Co-fractionation
BioGRID:112895	BioGRID:115089	LAPTM4A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:120633	LAPTM4B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:120348	MARCH1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:128666	MARCH8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:122031	MYO1G	BioGRID	PubMed	Co-fractionation
BioGRID:112895	BioGRID:115436	OPTN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:111105	PARK2	BioGRID	PubMed	Co-fractionation
BioGRID:112895	BioGRID:120245	PXK	BioGRID	PubMed	Co-localization
BioGRID:112895	BioGRID:110382	RAB8A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:112171	RYK	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:117194	SH3BP4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112895	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:129222	SVIP	BioGRID	PubMed	Co-fractionation
BioGRID:112895	BioGRID:112876	TF	BioGRID	PubMed	Reconstituted Complex
BioGRID:112895	BioGRID:112895	TFRC	BioGRID	PubMed	Co-crystal Structure
BioGRID:112895	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:112895	BioGRID:113255	VCAM1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112895	BioGRID:1205544	env	BioGRID	PubMed	Co-fractionation
BioGRID:112895	BioGRID:1205545	nef	BioGRID	PubMed	Co-fractionation
BioGRID:112895	BioGRID:1205543	vpu	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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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...
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
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...

General gene information

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Markers

SHGC-77671 (e-PCR)
- UniSTS:3862

G22035 (e-PCR)
- UniSTS:21813

SHGC-58250 (e-PCR)
- UniSTS:47418

GDB:181229 (e-PCR)
- UniSTS:155197

D3S2868E (e-PCR)
- UniSTS:150876

SHGC-77676 (e-PCR)
- UniSTS:48489

STS-H53118 (e-PCR)
- UniSTS:78998

SHGC-77673 (e-PCR)
- UniSTS:19879

TFRC_3331.2 (e-PCR)
- UniSTS:468152

RH135817 (e-PCR)
- UniSTS:209635

D3S4248 (e-PCR)
- UniSTS:753

D3S4193 (e-PCR)
- UniSTS:62460

Homology

Homologs of the TFRC gene: The TFRC gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
peptidase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transferrin receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
cellular iron ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
cellular iron ion homeostasis	TAS Traceable Author Statement more info
osteoclast differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of bone resorption	IEA Inferred from Electronic Annotation more info
proteolysis	IEA Inferred from Electronic Annotation more info
transferrin transport	TAS Traceable Author Statement more info
transmembrane transport	TAS Traceable Author Statement more info
virus-host interaction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
coated pit	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic membrane-bounded vesicle	IDA Inferred from Direct Assay more info	PubMed
endosome	IDA Inferred from Direct Assay more info	PubMed
external side of plasma membrane	IEA Inferred from Electronic Annotation more info
extracellular region	IDA Inferred from Direct Assay more info	PubMed
extracellular vesicular exosome	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
melanosome	IEA Inferred from Electronic Annotation more info
membrane	NAS Non-traceable Author Statement more info	PubMed
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transferrin receptor protein 1

Names: transferrin receptor protein 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001128148.1 → NP_001121620.1 transferrin receptor protein 1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

BC001188, CK724857, DA460386, DT219054

Consensus CDS

CCDS3312.1

UniProtKB/Swiss-Prot

P02786

Related

ENSP00000353224, OTTHUMP00000208523, ENST00000360110, OTTHUMT00000341346

Conserved Domains (5) summary

COG2234
Location:153 – 485
Blast Score: 142

Iap; Predicted aminopeptidases [General function prediction only]

cd02128
Location:201 – 377
Blast Score: 720

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 ...

cd09848
Location:385 – 610
Blast Score: 1071

M28_TfR; M28 Zn-peptidase Transferrin Receptor family

pfam04253
Location:636 – 752
Blast Score: 306

TFR_dimer; Transferrin receptor-like dimerisation domain

cl14876
Location:127 – 187
Blast Score: 150

Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42.
NM_003234.2 → NP_003225.2 transferrin receptor protein 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK291723, BC001188, CK724857, DT219054, X01060

Consensus CDS

CCDS3312.1

UniProtKB/TrEMBL

A8K6Q8

UniProtKB/Swiss-Prot

P02786

Related

ENSP00000376197, OTTHUMP00000208524, ENST00000392396, OTTHUMT00000341347

Conserved Domains (5) summary

COG2234
Location:153 – 485
Blast Score: 142

Iap; Predicted aminopeptidases [General function prediction only]

cd02128
Location:201 – 377
Blast Score: 720

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 ...

cd09848
Location:385 – 610
Blast Score: 1071

M28_TfR; M28 Zn-peptidase Transferrin Receptor family

pfam04253
Location:636 – 752
Blast Score: 306

TFR_dimer; Transferrin receptor-like dimerisation domain

cl14876
Location:127 – 187
Blast Score: 150

Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p10 Primary Assembly

Range

195776155..195809032, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

193076917..193109375, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018914.1 Alternate CHM1_1.0

Range

195633922..195666811, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01033706.1 (48476..75645)	None
genomic	ABBA01033707.1	None
genomic	ABBA01033708.1	None
genomic	AC024937.21 (104118..136712)	None
genomic	AF187320.1	AAF04564.1
genomic	AMYH01013793.1 (94959..127848)	None
genomic	CH471191.2	EAW53670.1
		EAW53671.1
		EAW53672.1
		EAW53673.1
genomic	DQ496099.1	ABF47088.1
mRNA	AB209254.1	BAD92491.1
mRNA	AK291723.1	BAF84412.1
mRNA	AK294758.1	BAH11872.1
mRNA	AK309923.1	None
mRNA	BC001188.1	AAH01188.1
mRNA	BX537966.1	CAD97930.1
mRNA	CK724857.1	None
mRNA	DA460386.1	None
mRNA	DT219054.1	None
mRNA	M11507.1	AAA61153.1
mRNA	X01060.1	CAA25527.1
other-genetic	DQ892859.2	ABM83785.1
other-genetic	DQ896108.2	ABM87107.1