Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Structures of three inhibitor complexes provide insight into the reaction mechanism of the human methylenetetrahydrofolate dehydrogenase/cyclohydrolase.
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Crystal structures of the human cytosolic D/C domain (DC301) with NADP and inhibitors, plus mutagenesis, identify catalytic residues and establish the dehydrogenase and cyclohydrolase reaction mechanisms.
"we propose a reaction mechanism for both activities, the dehydrogenase and the cyclohydrolase."
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
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MTHFD1 is a trifunctional enzyme interconverting THF derivatives for nucleotide synthesis; the R653Q variant reduces cellular formate incorporation into DNA, disrupting de novo purine synthesis.
"indicating a disruption of de novo purine synthesis."
Expression of active domains of a human folate-dependent trifunctional enzyme in Escherichia coli.
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The human trifunctional enzyme comprises an N-terminal D/C domain (res 1-301) and a C-terminal synthetase domain (res 304-935); each folds independently into an active enzyme, establishing the three catalytic activities.
"Both domains formed active enzymes thereby demonstrating their ability to fold independently."
Large-scale proteomics and phosphoproteomics of urinary exosomes.
Defining the membrane proteome of NK cells.
MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
Elucidating novel hepatitis C virus-host interactions using combined mass spectrometry and functional genomics approaches.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
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MTHFD1-deficiency patient fibroblasts show severely reduced methionine formation from [14C]-formate, responsive to folic/folinic acid, demonstrating the enzyme's role in folate one-carbon flux to methionine.
"Patient fibroblast studies revealed severely reduced methionine formation from [(14)C]-formate"
Purification and characterization of a mitochondrial isozyme of C1-tetrahydrofolate synthase from Saccharomyces cerevisiae.
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The yeast mitochondrial C1-THF synthase isozyme (a separate gene product) is localized in mitochondria, whereas cytoplasmic C1-THF synthase is not; this paper concerns the mitochondrial isozyme, not the human cytoplasmic MTHFD1.
"Cell fractionation experiments show that the isozyme, but not C1-tetrahydrofolate"
5,10-methyleneTHF polyglutamate + NADP+ <=> 5,10-methenylTHF polyglutamate + NADPH + H+
MTHFD1 dimer transforms 10-formyl-THFPG to 5,10-methenyl-THFPG
MTHFD1 dimer ligates HCOOH to THFPG to form 10-formyl-THFPG
MTHFD1 dimer dehydrogenates 5,10-methenyl-THFPG to 5,10-methylene-THFPG
5,10-methenylTHF polyglutamate + H2O <=> 10-formylTHF polyglutamate