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Aliases for TFRC Gene

Aliases for TFRC Gene

  • Transferrin Receptor 2 3 5
  • TFR1 3 4
  • TRFR 3 4
  • P90 3 4
  • TFR 3 4
  • TR 3 4
  • T9 3 4
  • Transferrin Receptor (P90, CD71) 2
  • CD71 Antigen 4
  • IMD46 3
  • CD71 3

External Ids for TFRC Gene

Previous GeneCards Identifiers for TFRC Gene

  • GC03M191708
  • GC03M195991
  • GC03M197183
  • GC03M197102
  • GC03M197264
  • GC03M195754
  • GC03M193076

Summaries for TFRC Gene

Entrez Gene Summary for TFRC Gene

  • 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]

GeneCards Summary for TFRC Gene

TFRC (Transferrin Receptor) is a Protein Coding gene. Diseases associated with TFRC include combined t cell and b cell immunodeficiency and gastric adenosquamous carcinoma. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and HIF-1-alpha transcription factor network. GO annotations related to this gene include poly(A) RNA binding and double-stranded RNA binding. An important paralog of this gene is FOLH1.

UniProtKB/Swiss-Prot for TFRC Gene

  • Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site.

  • (Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.

Gene Wiki entry for TFRC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFRC Gene

Genomics for TFRC Gene

Regulatory Elements for TFRC Gene

Promoters for TFRC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TFRC on UCSC Golden Path with GeneCards custom track

Genomic Location for TFRC Gene

Chromosome:
3
Start:
196,027,183 bp from pter
End:
196,082,189 bp from pter
Size:
55,007 bases
Orientation:
Minus strand

Genomic View for TFRC Gene

Genes around TFRC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFRC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFRC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFRC Gene

Proteins for TFRC Gene

  • Protein details for TFRC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02786-TFR1_HUMAN
    Recommended name:
    Transferrin receptor protein 1
    Protein Accession:
    P02786
    Secondary Accessions:
    • D3DXB0
    • Q1HE24
    • Q59G55
    • Q9UCN0
    • Q9UCU5
    • Q9UDF9
    • Q9UK21

    Protein attributes for TFRC Gene

    Size:
    760 amino acids
    Molecular mass:
    84871 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Binds one transferrin or HFE molecule per subunit. Binds the HLA class II histocompatibility antigen, DR1. Interacts with SH3BP3.
    • (Microbial infection) Interacts with Guanarito, Junin and Machupo arenavirus glycoprotein complex (PubMed:17287727, PubMed:18268337).
    Miscellaneous:
    • Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to enter and infect cells.
    • Serum transferrin receptor (sTfR) is used as a means of detecting erythropoietin (EPO) misuse by athletes and as a diagnostic test for anemia resulting from a number of conditions including rheumatoid arthritis, pregnancy, irritable bowel syndrome and in HIV patients.
    SequenceCaution:
    • Sequence=BAD92491.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TFRC Gene

neXtProt entry for TFRC Gene

Proteomics data for TFRC Gene at MOPED

Post-translational modifications for TFRC Gene

  • N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated.
  • Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation.
  • Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR).
  • Ubiquitination at Lys 39, Lys 224, Lys 344, and Lys 358
  • Glycosylation at Thr 104, Asn 251, Asn 317, and Asn 727
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for TFRC (TfR (Transferrin R))
  • Cell Signaling Technology (CST) Antibodies for TFRC (TfR)

No data available for DME Specific Peptides for TFRC Gene

Domains & Families for TFRC Gene

Gene Families for TFRC Gene

Suggested Antigen Peptide Sequences for TFRC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02786

UniProtKB/Swiss-Prot:

TFR1_HUMAN :
  • Contains 1 PA (protease associated) domain.
  • Belongs to the peptidase M28 family. M28B subfamily.
Domain:
  • Contains 1 PA (protease associated) domain.
Family:
  • Belongs to the peptidase M28 family. M28B subfamily.
genes like me logo Genes that share domains with TFRC: view

Function for TFRC Gene

Molecular function for TFRC Gene

GENATLAS Biochemistry:
transferrin receptor (p90),involved in the development of erythrocytes and the nervous system
UniProtKB/Swiss-Prot Function:
Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.
UniProtKB/Swiss-Prot Induction:
Regulated by cellular iron levels through binding of the iron regulatory proteins, IRP1 and IRP2, to iron-responsive elements in the 3-UTR. Up-regulated upon mitogenic stimulation.

Gene Ontology (GO) - Molecular Function for TFRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004998 transferrin receptor activity IEA,NAS 1871153
GO:0005515 protein binding IPI 9546397
GO:0033570 transferrin transmembrane transporter activity IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with TFRC: view
genes like me logo Genes that share phenotypes with TFRC: view

Animal Models for TFRC Gene

MGI Knock Outs for TFRC:

Animal Model Products

  • Taconic Biosciences Mouse Models for TFRC

miRNA for TFRC Gene

miRTarBase miRNAs that target TFRC

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TFRC
  • R&D Systems cDNA Clones for TFRC (TfR (Transferrin R))

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TFRC Gene

Localization for TFRC Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFRC Gene

Cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:17081065}.
Transferrin receptor protein 1, serum form: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TFRC Gene COMPARTMENTS Subcellular localization image for TFRC gene
Compartment Confidence
endosome 5
extracellular 5
plasma membrane 5
cytosol 3
mitochondrion 3
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
lysosome 2
nucleus 2
vacuole 2

Gene Ontology (GO) - Cellular Components for TFRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0009986 cell surface IDA 7556058
GO:0016020 membrane NAS 1871153
GO:0016023 cytoplasmic, membrane-bounded vesicle IDA 15229288
GO:0016323 basolateral plasma membrane IDA 9990067
genes like me logo Genes that share ontologies with TFRC: view

Pathways & Interactions for TFRC Gene

genes like me logo Genes that share pathways with TFRC: view

SIGNOR curated interactions for TFRC Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TFRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis IEA,NAS 1871153
GO:0006898 receptor-mediated endocytosis IEA --
GO:0006953 acute-phase response IEA --
GO:0010033 response to organic substance IEA --
GO:0010035 response to inorganic substance IEA --
genes like me logo Genes that share ontologies with TFRC: view

Drugs & Compounds for TFRC Gene

(72) Drugs for TFRC Gene - From: Novoseek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gallium nitrate Approved, Investigational Pharma Transporter 6

(67) Additional Compounds for TFRC Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with TFRC: view

Transcripts for TFRC Gene

Unigene Clusters for TFRC Gene

Transferrin receptor (p90, CD71):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TFRC
  • R&D Systems cDNA Clones for TFRC (TfR (Transferrin R))

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFRC Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - -
SP5: - -
SP6: - - -
SP7: - - -
SP8: -
SP9: -
SP10:
SP11:

ExUns: 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21a · 21b · 21c
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:

Relevant External Links for TFRC Gene

GeneLoc Exon Structure for
TFRC
ECgene alternative splicing isoforms for
TFRC

Expression for TFRC Gene

mRNA expression in normal human tissues for TFRC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TFRC Gene

This gene is overexpressed in Placenta (27.7) and Fetal Liver (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TFRC Gene



SOURCE GeneReport for Unigene cluster for TFRC Gene Hs.529618

genes like me logo Genes that share expression patterns with TFRC: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TFRC Gene

Orthologs for TFRC Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TFRC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TFRC 35
  • 83.84 (n)
  • 77.21 (a)
TFRC 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFRC 35
  • 84.74 (n)
  • 79.61 (a)
TFRC 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfrc 35
  • 81.82 (n)
  • 77.34 (a)
Tfrc 16
Tfrc 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TFRC 35
  • 99.69 (n)
  • 99.34 (a)
TFRC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfrc 35
  • 80.85 (n)
  • 76.55 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TFRC 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFRC 35
  • 61 (n)
  • 53.33 (a)
TFRC 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFRC 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734813 35
  • 58.21 (n)
  • 50.6 (a)
Str.15779 35
zebrafish
(Danio rerio)
Actinopterygii tfr1a 35
  • 54.57 (n)
  • 46.06 (a)
tfr1a 36
  • 43 (a)
OneToMany
tfr1b 36
  • 39 (a)
OneToMany
tfr1b 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS70 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
ManyToMany
Species with no ortholog for TFRC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TFRC Gene

ENSEMBL:
Gene Tree for TFRC (if available)
TreeFam:
Gene Tree for TFRC (if available)

Paralogs for TFRC Gene

Paralogs for TFRC Gene

(2) SIMAP similar genes for TFRC Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TFRC: view

Variants for TFRC Gene

Sequence variations from dbSNP and Humsavar for TFRC Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs3817672 - 196,073,940(-) TCACC(A/G)GCACC reference, missense
rs41301381 - 196,071,449(-) TTTAC(C/G/T)TGGTG reference, missense
rs41295879 - 196,064,369(-) AATCC(A/G)GTGTA reference, missense
VAR_051808 -
rs570 -- 196,049,369(-) CAAAT(A/G)ATATG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TFRC Gene

Variant ID Type Subtype PubMed ID
dgv1549e1 CNV Complex 17122850
nsv428430 CNV Gain+Loss 18775914
dgv1553e1 CNV Complex 17122850
nsv471621 CNV Gain+Loss 15918152
dgv1556e1 CNV Complex 17122850
nsv469518 CNV Complex 16826518
nsv878170 CNV Gain 21882294
nsv878171 CNV Gain 21882294
nsv483017 CNV Gain 15286789
nsv878172 CNV Gain 21882294
nsv820015 CNV Loss 19587683
nsv524410 CNV Gain 19592680
nsv10386 CNV Loss 18304495
esv2726560 CNV Deletion 23290073
esv274570 CNV Insertion 20981092

Variation tolerance for TFRC Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.60; 78.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFRC Gene

HapMap Linkage Disequilibrium report
TFRC
Human Gene Mutation Database (HGMD)
TFRC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFRC Gene

Disorders for TFRC Gene

MalaCards: The human disease database

(37) MalaCards diseases for TFRC Gene - From: ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
combined t cell and b cell immunodeficiency
  • combined immunodeficiency
gastric adenosquamous carcinoma
  • adenosquamous carcinoma of stomach
iron deficiency anemia
deficiency anemia
  • anemia
hemochromatosis
  • hfe hemochromatosis, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search TFRC in MalaCards View complete list of genes associated with diseases

Relevant External Links for TFRC

Genetic Association Database (GAD)
TFRC
Human Genome Epidemiology (HuGE) Navigator
TFRC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFRC
genes like me logo Genes that share disorders with TFRC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFRC Gene

Publications for TFRC Gene

  1. Functional analysis of human/chicken transferrin receptor chimeras indicates that the carboxy-terminal region is important for ligand binding. (PMID: 8631371) Buchegger F. … Collawn J.F. (Eur. J. Biochem. 1996) 3 4 23 67
  2. Transferrin receptor (CD71) is a marker of poor prognosis in breast cancer and can predict response to tamoxifen. (PMID: 19238537) Habashy H.O. … Gee J.M. (Breast Cancer Res. Treat. 2010) 3 23
  3. The unique kinetics of iron release from transferrin: the role of receptor, lobe-lobe interactions, and salt at endosomal pH. (PMID: 19917294) Byrne S.L. … Mason A.B. (J. Mol. Biol. 2010) 3 23
  4. [Expression of mitochondrial ferritin in K562 leukemic cell during ATRA-induced cell differentiation]. (PMID: 20369475) Sun L. … Yuan L.X. (Sichuan Da Xue Xue Bao Yi Xue Ban 2010) 3 23
  5. Transferrin-receptor-mediated iron accumulation controls proliferation and glutamate release in glioma cells. (PMID: 19066835) Chirasani S.R. … Glass R. (J. Mol. Med. 2009) 3 23

Products for TFRC Gene

Sources for TFRC Gene

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