Human Gene TFRC (ENST00000360110.9_12) from GENCODE V47lift37
  Description: transferrin receptor, transcript variant 2 (from RefSeq NM_001128148.3)
Gencode Transcript: ENST00000360110.9_12
Gencode Gene: ENSG00000072274.14_15
Transcript (Including UTRs)
   Position: hg19 chr3:195,776,155-195,808,961 Size: 32,807 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr3:195,778,813-195,803,970 Size: 25,158 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:195,776,155-195,808,961)mRNA (may differ from genome)Protein (760 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
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-  Comments and Description Text from UniProtKB
  ID: TFR1_HUMAN
DESCRIPTION: RecName: Full=Transferrin receptor protein 1; Short=TR; Short=TfR; Short=TfR1; Short=Trfr; AltName: Full=T9; AltName: Full=p90; AltName: CD_antigen=CD71; Contains: RecName: Full=Transferrin receptor protein 1, serum form; Short=sTfR;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
SUBCELLULAR LOCATION: Transferrin receptor protein 1, serum form: Secreted.
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.
PTM: N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated.
PTM: Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR).
PTM: Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation.
MISCELLANEOUS: 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.
MISCELLANEOUS: Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to enter and infect cells.
SIMILARITY: Belongs to the peptidase M28 family. M28B subfamily.
SIMILARITY: Contains 1 PA (protease associated) domain.
SEQUENCE CAUTION: Sequence=BAD92491.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TFRCID259ch3q29.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TFRC
Diseases sorted by gene-association score: immunodeficiency 46* (1578), combined t cell and b cell immunodeficiency* (233), gastric adenosquamous carcinoma (22), hemochromatosis (21), iron deficiency anemia (21), deficiency anemia (20), iron metabolism disease (16), microcytic anemia (15), thalassemia intermedia (14), siderosis (12), thalassemia major (10), restless legs syndrome (10), ehrlichiosis (9), thalassemia (9), anemia, sideroblastic, 1 (8), friedreich ataxia (8), human granulocytic anaplasmosis (8), thalassemia, hispanic gamma-delta-beta (8), hemosiderosis (7), porphyria cutanea tarda (7), malignant histiocytosis (7), polycythemia (7), folic acid deficiency anemia (6), nutritional deficiency disease (6), metal metabolism disorder (5), angiomatous meningioma (5), childhood leukemia (5), atransferrinemia (4), fetal erythroblastosis (4), rheumatoid arthritis (3), celiac disease (3), brain cancer (3), myelodysplastic syndrome (2), malaria (2), lymphoma, non-hodgkin (1), immune system disease (1), amyotrophic lateral sclerosis 1 (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 116.18 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 740.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.2071-0.327 Picture PostScript Text
3' UTR -713.002658-0.268 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007484 - Peptidase_M28
IPR003137 - Protease-assoc_domain
IPR007365 - TFR-like_dimer_dom

Pfam Domains:
PF02225 - PA domain
PF04253 - Transferrin receptor-like dimerisation domain
PF04389 - Peptidase family M28

SCOP Domains:
47672 - Transferrin receptor-like dimerisation domain
53187 - Zn-dependent exopeptidases
52025 - PA domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1CX8 - X-ray MuPIT 1DE4 - X-ray MuPIT 1SUV - EM MuPIT 2NSU - EM MuPIT 3KAS - X-ray MuPIT 3S9L - X-ray MuPIT 3S9M - X-ray MuPIT 3S9N - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P02786
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0003723 RNA binding
GO:0003725 double-stranded RNA binding
GO:0004998 transferrin receptor activity
GO:0005515 protein binding
GO:0033570 transferrin transmembrane transporter activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006879 cellular iron ion homeostasis
GO:0006897 endocytosis
GO:0006898 receptor-mediated endocytosis
GO:0016032 viral process
GO:0030316 osteoclast differentiation
GO:0030890 positive regulation of B cell proliferation
GO:0031623 receptor internalization
GO:0033572 transferrin transport
GO:0035690 cellular response to drug
GO:0042102 positive regulation of T cell proliferation
GO:0045780 positive regulation of bone resorption
GO:0045830 positive regulation of isotype switching
GO:0046718 viral entry into host cell
GO:0061024 membrane organization
GO:0097286 iron ion import
GO:1990830 cellular response to leukemia inhibitory factor
GO:0001558 regulation of cell growth
GO:0042127 regulation of cell proliferation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005768 endosome
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005905 clathrin-coated pit
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030665 clathrin-coated vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0042470 melanosome
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
GO:0070062 extracellular exosome
GO:0072562 blood microparticle
GO:1903561 extracellular vesicle
GO:1990712 HFE-transferrin receptor complex


-  Descriptions from all associated GenBank mRNAs
  BC001188 - Homo sapiens transferrin receptor (p90, CD71), mRNA (cDNA clone MGC:3151 IMAGE:3354176), complete cds.
BX537966 - Homo sapiens mRNA; cDNA DKFZp686O0451 (from clone DKFZp686O0451).
X01060 - Human mRNA for transferrin receptor.
JD531196 - Sequence 512220 from Patent EP1572962.
JD040195 - Sequence 21219 from Patent EP1572962.
JD410463 - Sequence 391487 from Patent EP1572962.
JD046883 - Sequence 27907 from Patent EP1572962.
JD363031 - Sequence 344055 from Patent EP1572962.
JD142883 - Sequence 123907 from Patent EP1572962.
JD510713 - Sequence 491737 from Patent EP1572962.
JD498605 - Sequence 479629 from Patent EP1572962.
JD168452 - Sequence 149476 from Patent EP1572962.
JD347789 - Sequence 328813 from Patent EP1572962.
JD045767 - Sequence 26791 from Patent EP1572962.
JD058672 - Sequence 39696 from Patent EP1572962.
JD545565 - Sequence 526589 from Patent EP1572962.
JD237685 - Sequence 218709 from Patent EP1572962.
AK309923 - Homo sapiens cDNA, FLJ99964.
JD237878 - Sequence 218902 from Patent EP1572962.
JD393989 - Sequence 375013 from Patent EP1572962.
JD171232 - Sequence 152256 from Patent EP1572962.
JD078799 - Sequence 59823 from Patent EP1572962.
M11507 - Human transferrin receptor mRNA, complete cds.
JD141055 - Sequence 122079 from Patent EP1572962.
JD267653 - Sequence 248677 from Patent EP1572962.
AK291723 - Homo sapiens cDNA FLJ75881 complete cds, highly similar to Homo sapiens transferrin receptor (p90, CD71) (TFRC), mRNA.
JD285001 - Sequence 266025 from Patent EP1572962.
AB209254 - Homo sapiens mRNA for transferrin receptor variant protein.
JD214424 - Sequence 195448 from Patent EP1572962.
JD355808 - Sequence 336832 from Patent EP1572962.
JD109181 - Sequence 90205 from Patent EP1572962.
AK294758 - Homo sapiens cDNA FLJ57106 complete cds, highly similar to Transferrin receptor protein 1.
JD240594 - Sequence 221618 from Patent EP1572962.
JD251580 - Sequence 232604 from Patent EP1572962.
DQ892859 - Synthetic construct clone IMAGE:100005489; FLH190377.01X; RZPDo839H0775D transferrin receptor (p90, CD71) (TFRC) gene, encodes complete protein.
DQ896108 - Synthetic construct Homo sapiens clone IMAGE:100010568; FLH190373.01L; RZPDo839H0765D transferrin receptor (p90, CD71) (TFRC) gene, encodes complete protein.
KJ904573 - Synthetic construct Homo sapiens clone ccsbBroadEn_13967 TFRC-like gene, encodes complete protein.
AB384895 - Synthetic construct DNA, clone: pF1KB4088, Homo sapiens TFRC gene for transferrin receptor protein 1, complete cds, without stop codon, in Flexi system.
DQ591336 - Homo sapiens piRNA piR-58448, complete sequence.
CU674600 - Synthetic construct Homo sapiens gateway clone IMAGE:100020065 5' read TFRC mRNA.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_eea1Pathway - The role of FYVE-finger proteins in vesicle transport

Reactome (by CSHL, EBI, and GO)

Protein P02786 (Reactome details) participates in the following event(s):

R-HSA-421836 trans-Golgi Network Derived Vesicle Uncoating
R-HSA-421833 Vamp And trans-Golgi Network AP-1 Binding Coupled With Cargo Capture
R-HSA-917987 TFRC dimer binds 2xholoTF
R-HSA-5691154 HFE binds TFRC dimer
R-HSA-917839 apo-Transferrin dissociates from the receptor complex
R-HSA-421835 trans-Golgi Network Vesicle Scission
R-HSA-421831 trans-Golgi Network Coat Assembly
R-HSA-917814 apoTF:TFRC dimer translocates from endosome membrane to plasma membrane
R-HSA-917835 Fe3+ dissociates from holoTF:TFRC dimer
R-HSA-8866277 AP-2 directly binds some endocytic cargo
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-917937 Iron uptake and transport
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-382551 Transport of small molecules
R-HSA-199991 Membrane Trafficking
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-5653656 Vesicle-mediated transport
R-HSA-8856828 Clathrin-mediated endocytosis

-  Other Names for This Gene
  Alternate Gene Symbols: D3DXB0, ENST00000360110.1, ENST00000360110.2, ENST00000360110.3, ENST00000360110.4, ENST00000360110.5, ENST00000360110.6, ENST00000360110.7, ENST00000360110.8, NM_001128148, P02786, Q1HE24, Q59G55, Q9UCN0, Q9UCU5, Q9UDF9, Q9UK21, TFR1_HUMAN, uc318bju.1, uc318bju.2
UCSC ID: ENST00000360110.9_12
RefSeq Accession: NM_001128148.3
Protein: P02786 (aka TFR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.