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

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000041

Gene Ontology annotation based on UniPathway vocabulary mapping

GO_REF:0000052

Gene Ontology annotation based on curation of immunofluorescence data

GO_REF:0000107

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

GO_REF:0000117

Electronic Gene Ontology annotations created by ARBA machine learning models

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:12937168

Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls.

Human MTHFD1L cDNA expressed in an ade3 yeast strain gave ~9-fold elevated 10-formyl-THF synthetase activity with no detectable dehydrogenase activity, identifying it as the human mitochondrial C1-THF synthase.
A V5-tagged full-length construct localized exclusively to mitochondrial fractions of CHO cells, confirming mitochondrial localization.

PMID:16171773

Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase.

Purified recombinant human mitochondrial C1-THF synthase showed only 10-formyl-THF synthetase activity (no dehydrogenase/cyclohydrolase); it is a homodimer, and THF Km decreases sharply with polyglutamylation.

PMID:19946888

Defining the membrane proteome of NK cells.

Large-scale membrane proteome of the YTS NK-like cell line; MTHFD1L was among the many proteins detected, but as a soluble matrix enzyme this reflects co-fractionation rather than genuine membrane localization.

PMID:34800366

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.

High-confidence quantitative human mitochondrial proteome that includes MTHFD1L, corroborating its mitochondrial localization.

Reactome:R-HSA-5696839

MTHFD1L dimer ligates HCOOH to THF to form 10-formyl-THF

Reactome reaction: MTHFD1L homodimer in the mitochondrial matrix reversibly ligates formate to tetrahydrofolate to form 10-formyl-THF.

Reactome:R-HSA-6801456

MTHFD1L transforms 10-formyl-THF to HCOOH and THF

Reactome reaction: MTHFD1L in the mitochondrial matrix converts 10-formyl-THF to formate and THF; under most conditions the majority of cytoplasmic one-carbon units derive from mitochondrial formate.