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MGP003109

UniProt Annotations

Entry Information
Gene Nametransferrin
Protein EntryTRFE_HUMAN
UniProt IDP02787
SpeciesHuman
Comments
Comment typeDescription
DiseaseAtransferrinemia (ATRAF) [MIM:209300]: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. {ECO:0000269|PubMed:11110675, ECO:0000269|PubMed:15466165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTransferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.
InteractionP01350:GAST; NbExp=5; IntAct=EBI-714319, EBI-3436637;
PolymorphismDifferent polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1).
Sequence CautionSequence=AAF22007.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the transferrin family. {ECO:0000255|PROSITE-ProRule:PRU00741}.
SimilarityContains 2 transferrin-like domains. {ECO:0000255|PROSITE-ProRule:PRU00741}.
Subcellular LocationSecreted.
SubunitMonomer.
Tissue SpecificityExpressed by the liver and secreted in plasma.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tf/";
Web ResourceName=Wikipedia; Note=Transferrin entry; URL="http://en.wikipedia.org/wiki/Transferrin";
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