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Aliases for TFRC Gene

Aliases for TFRC Gene

  • Transferrin Receptor 2 3
  • TFR 3 4 6
  • Transferrin Receptor (P90, CD71) 2 3
  • TFR1 3 4
  • TRFR 3 4
  • CD71 3 6
  • P90 3 4
  • T9 3 4
  • TR 3 4
  • Transferrin Receptor Protein 1 3
  • CD71 Antigen 4

External Ids for TFRC Gene

Summaries for TFRC Gene

GeneCards Summary for TFRC Gene

TFRC (Transferrin Receptor) is a Protein Coding gene. Diseases associated with TFRC include gastric adenosquamous carcinoma and berger disease. Among its related pathways are Endocytosis and HIF-1 signaling pathway. GO annotations related to this gene include identical protein binding and transferrin receptor activity. 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.

Gene Wiki entry for TFRC Gene

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

Genomics for TFRC Gene

Genomic Location for TFRC Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TFRC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFRC Gene

Regulatory Elements 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. Interacts with Machupo arenavirus GPC.
    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)
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys39, Lys224, Lys344, Lys358, and Lys720
  • Glycosylation at Thr104, Asn251, Asn317, and Asn727

Other Protein References for TFRC Gene

No data available for DME Specific Peptides for TFRC Gene

Domains for TFRC Gene

Gene Families for TFRC Gene

HGNC:
  • CD :CD molecules

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
Domain:
  • Contains 1 PA (protease associated) domain.:
    • P02786
Family:
  • Belongs to the peptidase M28 family. M28B subfamily.:
    • P02786
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 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:0003725 double-stranded RNA binding IDA 21266579
GO:0004998 transferrin receptor activity NAS 1871153
GO:0005515 protein binding IPI 10638746
GO:0042802 identical protein binding IPI 23384347
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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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.
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
golgi apparatus 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
lysosome 2
mitochondrion 2
nucleus 2
vacuole 2

Gene Ontology (GO) - Cellular Components for TFRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 1871153
GO:0005615 extracellular space IDA 22664934
GO:0005768 endosome IDA 14612438
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 6090955
genes like me logo Genes that share ontologies with TFRC: view

Pathways for TFRC Gene

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

Gene Ontology (GO) - Biological Process for TFRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 NOT regulation of cell growth IMP 7556058
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0016032 viral process IEA --
GO:0030316 osteoclast differentiation IEA --
genes like me logo Genes that share ontologies with TFRC: view

Compounds for TFRC Gene

(1) HMDB Compounds for TFRC Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6

(138) Novoseek inferred chemical compound relationships for TFRC Gene

Compound -log(P) Hits PubMed IDs
iron 91.8 373
ferric ammonium citrate 73.7 2
apotransferrin 71.1 8
zinc protoporphyrin 67.9 38
mannose 6-phosphate 66.5 29
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:

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

Integrated Proteomics: protein expression 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 expressions with TFRC: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia TFRC 35
  • 99.69 (n)
  • 99.34 (a)
TFRC 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TFRC 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfrc 35
  • 80.85 (n)
  • 76.55 (a)
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

Selected 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 MAF
rs570 -- 196,049,369(-) CAAAT(A/G)ATATG utr-variant-3-prime
rs3326 -- 196,054,635(+) GCTAC(A/G)GGTAT intron-variant
rs3933 -- 196,058,126(+) tcctc(A/G)tcatt intron-variant
rs366268 -- 196,055,306(-) TGTCT(C/T)GCAGG intron-variant
rs406271 -- 196,050,105(-) AGCAG(A/G)GGGAC 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

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

(6) University of Copenhagen DISEASES for TFRC Gene

(95) Novoseek inferred disease relationships for TFRC Gene

Disease -log(P) Hits PubMed IDs
iron deficiency 90.3 143
hereditary hemochromatosis 82.9 22
iron deficiency anemia 79.5 43
iron overload 79.3 32
anemia 76.5 101

Relevant External Links for TFRC

Genetic Association Database (GAD)
TFRC
Human Genome Epidemiology (HuGE) Navigator
TFRC
genes like me logo Genes that share disorders with TFRC: view

No data available for UniProtKB/Swiss-Prot 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
  2. Characterization of transferrin receptor released by K562 erythroleukemia cells. (PMID: 1871153) Baynes R.D. … Cook J.D. (Proc. Soc. Exp. Biol. Med. 1991) 3 4 23
  3. Structural model of phospholipid-reconstituted human transferrin receptor derived by electron microscopy. (PMID: 9782058) Fuchs H. … Engel A. (Structure 1998) 3 4 23
  4. Serum transferrin receptor is a truncated form of tissue receptor. (PMID: 2229063) Shih Y.J. … Cook J.D. (J. Biol. Chem. 1990) 3 4 23
  5. A point mutation in the cytoplasmic domain of the transferrin receptor inhibits endocytosis. (PMID: 2327986) Alvarez E. … Davis R.J. (Biochem. J. 1990) 3 4 23

Products for TFRC Gene

  • Addgene plasmids for TFRC

Sources for TFRC Gene

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