MGP Database

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MGP001969

UniProt Annotations

Entry Information
Gene Namemethylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Protein EntryC1TC_HUMAN
UniProt IDP11586
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity5,10-methenyltetrahydrofolate + H(2)O = 10- formyltetrahydrofolate.
Catalytic Activity5,10-methylenetetrahydrofolate + NADP(+) = 5,10-methenyltetrahydrofolate + NADPH.
Catalytic ActivityATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate.
DiseaseColorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
DiseaseFolate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269|PubMed:12384833, ECO:0000269|PubMed:16552426, ECO:0000269|PubMed:9611072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DomainThis trifunctional enzyme consists of two major domains: an N-terminal part containing the methylene-THF dehydrogenase and cyclohydrolase activities and a larger C-terminal part containing formyl-THF synthetase activity.
InteractionP23508:MCC; NbExp=1; IntAct=EBI-709638, EBI-307531; Q9Y4K3:TRAF6; NbExp=1; IntAct=EBI-709638, EBI-359276; Q9P2S5:WDR8; NbExp=1; IntAct=EBI-709638, EBI-1054904;
PathwayOne-carbon metabolism; tetrahydrofolate interconversion.
SimilarityIn the C-terminal section; belongs to the formate-- tetrahydrofolate ligase family. {ECO:0000305}.
SimilarityIn the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomodimer. {ECO:0000269|PubMed:10828945}.
Tissue SpecificityUbiquitous.
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