AAH01014.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
MTHFD1 protein, partial
NCBI Official Synonym Full Names
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
NCBI Official Synonym Symbols
NCBI Protein Information
C-1-tetrahydrofolate synthase, cytoplasmic; C1-THF synthase; cytoplasmic C-1-tetrahydrofolate synthase; 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase
UniProt Protein Name
C-1-tetrahydrofolate synthase, cytoplasmic
UniProt Synonym Gene Names
UniProt Entry Name
C1TC_HUMAN
NCBI Summary for MTHFD1
This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
UniProt Comments for MTHFD1
Catalytic activity: 5,10-methylenetetrahydrofolate + NADP+ = 5,10-methenyltetrahydrofolate + NADPH.5,10-methenyltetrahydrofolate + H2O = 10-formyltetrahydrofolate.ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate.
Pathway: One-carbon metabolism; tetrahydrofolate interconversion.
Subunit structure: Homodimer. Ref.10
Subcellular location: Cytoplasm.
Tissue specificity: Ubiquitous.
Domain: This 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.
Involvement in disease: Folate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.11 Ref.12 Ref.13Colorectal 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.
Sequence similarities: In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family.
Research Articles on MTHFD1
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Products associated with MTHFD1 peptide
Pathways associated with MTHFD1 peptide
Diseases associated with MTHFD1 peptide
Organs/Tissues associated with MTHFD1 peptide
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