GeneID: 172



Names

Common Name: TF Type: Gene
Chromosome: 3 (NC_000003.12) Locus: NG_013080.1 (TF)
HUGO Symbol: TF Full Name: transferrin
Exons: 17 Introns: 16

Description:
The TF gene encodes transferrin, an iron-binding plasma protein responsible for delivering iron to cells. Ferric iron (Fe3+) in the plasma binds to transferrin to form holo-transferrin. Iron binding occurs only in the company of an anion, usually carbonate, that serves as a bridging ligand between metal and protein. Holo-transferrin binds to TF receptors on the cell surface, followed by endocytosis through clathrin pit formation. Acidification of the internalized vesicle results in Fe3+ reduction to ferrous iron (Fe2+), which is released from transferrin and transported into the cytosol. Fe2+ can bind to chaperones that deliver iron to target proteins, such as ferritin for storage or to prolyl and asparagyl hydroxylases to metallate the mononuclear iron center. Iron is incorporated into haemoglobin in erythroid cells. Serum transferrin may also have a further role in stimulating cell proliferation. Mutations in this gene lead to atransferrinemia and have been shown to cause microcytic anaemia accompanied by hepatic iron accumulation.

Synonyms: TFQTL1 , PRO1557 , PRO2086 , HEL-S-71p

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. De Domenico I, McVey Ward D, Kaplan J, Regulation of iron acquisition and storage: consequences for iron-linked disorders., Nat. Rev. Mol. Cell Biol. , 9(1), 72-81, 2008 PubMed
  2. Frey AG, Nandal A, Park JH, Smith PM, Yabe T, Ryu MS, Ghosh MC, Lee J, Rouault TA, Park MH, Philpott CC, Iron chaperones PCBP1 and PCBP2 mediate the metallation of the dinuclear iron enzyme deoxyhypusine hydroxylase., Proc. Natl. Acad. Sci. U.S.A. , 111(22), 8031-6, 2014 PubMed
  3. Gichohi-Wainaina WN, Tanaka T, Towers GW, Verhoef H, Veenemans J, Talsma EF, Harryvan J, Boekschoten MV, Feskens EJ, Melse-Boonstra A, Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry., PLoS ONE , 11(6), e0157996, 2016 PubMed
Created on 2016-09-14 18:02:36, Last reviewed on 2016-09-14 18:04:24 (Show full history)


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