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MGP005937

UniProt Annotations

Entry Information
Gene Namecytochrome b reductase 1
Protein EntryCYBR1_HUMAN
UniProt IDQ53TN4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q53TN4-1; Sequence=Displayed; Name=2; IsoId=Q53TN4-2; Sequence=VSP_042039; Note=No experimental confirmation available.; Name=3; IsoId=Q53TN4-3; Sequence=VSP_044945; Note=No experimental confirmation available.;
CofactorName=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250}; Note=Binds 2 heme groups non-covalently. {ECO:0000250};
FunctionFerric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells. {ECO:0000269|PubMed:16521311, ECO:0000269|PubMed:16521312, ECO:0000269|PubMed:17068337, ECO:0000269|PubMed:19673882}.
InductionBy iron deficiency (at protein level). {ECO:0000269|PubMed:12949720, ECO:0000269|PubMed:17087784}.
PolymorphismGenetic variations in CYBRD1 may act as modifier of iron overload expression and account for the variance observed in serum ferritin levels in patients with hereditary hemochromatosis.
Sequence CautionSequence=CAG29366.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAG29367.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityContains 1 cytochrome b561 domain. {ECO:0000255|PROSITE-ProRule:PRU00242}.
Subcellular LocationMembrane {ECO:0000269|PubMed:12949720}; Multi-pass membrane protein {ECO:0000269|PubMed:12949720}.
Tissue SpecificityPresent in erythrocyte membranes (at protein level). Also expressed in respiratory epithelium. {ECO:0000269|PubMed:16510471, ECO:0000269|PubMed:17068337}.
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