UniProt functional annotation for P00390

UniProt code: P00390.

Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Function:		Maintains high levels of reduced glutathione in the cytosol.
Catalytic activity:		Reaction=2 glutathione + NADP(+) = glutathione disulfide + H(+) + NADPH; Xref=Rhea:RHEA:11740, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:57925, ChEBI:CHEBI:58297, ChEBI:CHEBI:58349; EC=1.8.1.7; Evidence={ECO:0000269|PubMed:17185460};
Cofactor:		Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD per subunit.;
Subunit:		Homodimer; disulfide-linked. {ECO:0000269|PubMed:8626496}.
Subcellular location:		[Isoform Mitochondrial]: Mitochondrion.
Subcellular location:		[Isoform Cytoplasmic]: Cytoplasm.
Domain:		Each subunit can be divided into 4 domains that are consecutive along the polypeptide chain. Domains 1 and 2 bind FAD and NADPH, respectively. Domain 4 forms the interface.
Disease:		Hemolytic anemia due to glutathione reductase deficiency (HAGRD) [MIM:618660]: An autosomal recessive disease characterized by hemolytic anemia and impaired activity of glutathione reductase. Patients experience hemolytic anemia in response to oxidative stress or ingestion of fava beans. {ECO:0000269|PubMed:17185460}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		The active site is a redox-active disulfide bond.
Miscellaneous:		[Isoform Cytoplasmic]: Produced by alternative initiation of isoform Mitochondrial. {ECO:0000305}.
Miscellaneous:		[Isoform 3]: Expressed at very high levels in peripheral blood. {ECO:0000305}.
Similarity:		Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. {ECO:0000305}.
Sequence caution:		Sequence=AAP88037.1; Type=Erroneous initiation; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.