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MGP000828

UniProt Annotations

Entry Information
Gene Namedihydrofolate reductase
Protein EntryDYR_HUMAN
UniProt IDP00374
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P00374-1; Sequence=Displayed; Name=2; IsoId=P00374-2; Sequence=VSP_056352; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=2.7 uM for dihydrofolate {ECO:0000269|PubMed:15039552, ECO:0000269|PubMed:19196009, ECO:0000269|PubMed:21876184}; KM=4.0 uM for NADPH {ECO:0000269|PubMed:15039552, ECO:0000269|PubMed:19196009, ECO:0000269|PubMed:21876184};
Catalytic Activity5,6,7,8-tetrahydrofolate + NADP(+) = 7,8- dihydrofolate + NADPH. {ECO:0000255|PROSITE-ProRule:PRU00660, ECO:0000269|PubMed:12096917, ECO:0000269|PubMed:15039552, ECO:0000269|PubMed:17569517, ECO:0000269|PubMed:19196009, ECO:0000269|PubMed:19478082, ECO:0000269|PubMed:21876184, ECO:0000269|PubMed:9719595}.
DiseaseMegaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]: An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. {ECO:0000269|PubMed:21310276, ECO:0000269|PubMed:21310277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionKey enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFRL1. {ECO:0000269|PubMed:12096917, ECO:0000269|PubMed:21876188}.
PathwayCofactor biosynthesis; tetrahydrofolate biosynthesis; 5,6,7,8-tetrahydrofolate from 7,8-dihydrofolate: step 1/1.
SimilarityBelongs to the dihydrofolate reductase family. {ECO:0000305}.
SimilarityContains 1 DHFR (dihydrofolate reductase) domain. {ECO:0000255|PROSITE-ProRule:PRU00660}.
SubunitHomodimer. {ECO:0000269|PubMed:12657784, ECO:0000269|PubMed:12925791, ECO:0000269|PubMed:15039552, ECO:0000269|PubMed:16222560, ECO:0000269|PubMed:19478082, ECO:0000269|PubMed:2248959, ECO:0000269|PubMed:3383852}.
Tissue SpecificityWidely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. {ECO:0000269|PubMed:21310276}.
Web ResourceName=Wikipedia; Note=Dihydrofolate reductase entry; URL="http://en.wikipedia.org/wiki/Dihydrofolate_reductase";
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