• Gene id: 7037

Gene Summary

• Gene Symbol: TFRC   Gene   UCSC   Ensembl
• Aliases: CD71, IMD46, T9, TFR, TFR1, TR, TRFR, p90
• Gene name: transferrin receptor
• Alternate names: transferrin receptor protein 1,
• Gene location: 3q29 (30557593: 30541376)     Exons: 13     NC_000006.12
• Gene summary(Entrez): 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 identi
• OMIM: 190010

Protein Summary

• Protein general information: P02786  
  • Name: Transferrin receptor protein 1 (TR) (TfR) (TfR1) (Trfr) (T9) (p90) (CD antigen CD71) [Cleaved into: Transferrin receptor protein 1, serum form (sTfR)]
  • Length: 760  
  • Mass: 84871
• Sequence:

  MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIV
  FFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNEN
  SYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKA
  ATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGH
  AHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKL
  TVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIF
  ASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQD
  SNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIK
  LTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLN
  DRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALS
  GDVWDIDNEF

• Structural information:
  • Protein Domains: (223..31-)
    (/note="PA"-)
  • Interpro: IPR003137  IPR007484  IPR039373  IPR029513  IPR007365   IPR036757  IPR037324  
  • CDD: cd02128
  • PDB: 1CX8 1DE4 1SUV 2NSU 3KAS 3S9L 3S9M 3S9N 6D03 6D04 6D05 6GSR 6H5I
  • PDBsum: 1CX8 1DE4 1SUV 2NSU 3KAS 3S9L 3S9M 3S9N 6D03 6D04 6D05 6GSR 6H5I
  • DIP: 2736
  • STRING: ENSP00000353224
• Other Databases: GeneCards:  TFRC  Malacards:  TFRC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:1900182	positive regulation of protein localization to nucleus	IMP	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0031334	positive regulation of protein-containing complex assembly	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IMP	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0006826	iron ion transport	IBA	biological process
GO:0006879	cellular iron ion homeostasis	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0004998	transferrin receptor activity	IDA	molecular function
GO:0033572	transferrin transport	IDA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0030890	positive regulation of B cell proliferation	IDA	biological process
GO:0045830	positive regulation of isotype switching	IDA	biological process
GO:0031623	receptor internalization	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004998	transferrin receptor activity	IEA	molecular function
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0033572	transferrin transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0001618	virus receptor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004998	transferrin receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0055037	recycling endosome	IDA	cellular component
GO:0035690	cellular response to drug	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0045780	positive regulation of bone resorption	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:1990712	HFE-transferrin receptor complex	IEA	cellular component
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0009897	external side of plasma membrane	IGI	cellular component
GO:0005887	integral component of plasma membrane	IGI	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0033572	transferrin transport	IC	biological process
GO:0004998	transferrin receptor activity	IC	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0046718	viral entry into host cell	IEA	biological process
GO:0010008	endosome membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0006826	iron ion transport	IDA	biological process
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0042127	regulation of cell population proliferation	IMP	NOT|biological process
GO:0005615	extracellular space	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0006879	cellular iron ion homeostasis	NAS	biological process
GO:0004998	transferrin receptor activity	NAS	molecular function
GO:0016020	membrane	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001558	regulation of cell growth	IMP	NOT|biological process
GO:0072562	blood microparticle	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0010637	negative regulation of mitochondrial fusion	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04145	Phagosome
hsa04066	HIF-1 signaling pathway
hsa04640	Hematopoietic cell lineage
hsa04216	Ferroptosis

Diseases

Associated diseases	References
Prostate cancer	PMID:15514585
iron deficiency anemia	PMID:15104997
iron deficiency anemia	PMID:17877204
Breast cancer	PMID:14965443
Breast cancer	PMID:11299801
Ovarian cancer	PMID:3493065
Transitional cell carcinoma	PMID:9373912
Breast carcinoma	PMID:11497259
Cervical adenocarcinoma	PMID:9739406
renal cell carcinoma	PMID:12394762
renal cell carcinoma	PMID:8050820
multiple myeloma	PMID:21654517
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881