Human Gene MTHFD1L (ENST00000367321.8) from GENCODE V44
Description: Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like (MTHFD1L), transcript variant 14, non-coding RNA. (from RefSeq NR_146720) RefSeq Summary (NM_015440): The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]. Gencode Transcript: ENST00000367321.8 Gencode Gene: ENSG00000120254.16 Transcript (Including UTRs) Position: hg38 chr6:150,865,702-151,101,887 Size: 236,186 Total Exon Count: 28 Strand: + Coding Region Position: hg38 chr6:150,865,823-151,092,556 Size: 226,734 Coding Exon Count: 27
ID:C1TM_HUMAN DESCRIPTION: RecName: Full=Monofunctional C1-tetrahydrofolate synthase, mitochondrial; EC=6.3.4.3; AltName: Full=Formyltetrahydrofolate synthetase; Flags: Precursor; FUNCTION: May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2 (By similarity). CATALYTIC ACTIVITY: ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=500 uM for THF monoglutamate; KM=16 uM for THF triglutamate; KM=3.6 uM for THF pentaglutamate; PATHWAY: One-carbon metabolism; tetrahydrofolate interconversion. SUBUNIT: Homodimer. INTERACTION: P49662:CASP4; NbExp=1; IntAct=EBI-1046835, EBI-1057327; Q9Y5V3:MAGED1; NbExp=1; IntAct=EBI-1046835, EBI-716006; Q9P2S5:WDR8; NbExp=1; IntAct=EBI-1046835, EBI-1054904; SUBCELLULAR LOCATION: Mitochondrion. TISSUE SPECIFICITY: Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma. DOMAIN: This monofunctional enzyme consists of two major domains: an N-terminal inactive methylene-THF dehydrogenase and cyclohydrolase domain and an active larger formyl-THF synthetase C-terminal domain. MISCELLANEOUS: May participate in the progression of colorectal cancer by conferring growth advantage. Could be a new molecular target for cancer therapy. SIMILARITY: In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family. SIMILARITY: In the C-terminal section; belongs to the formate-- tetrahydrofolate ligase family. CAUTION: This enzyme lacks methylenetetrahydrofolate dehydrogenase (EC 1.5.1.5) and ethenyltetrahydrofolate cyclohydrolase (EC 3.5.4.9) activities. An enzyme performing these two complementary activities has not been found in adult mitochondrial tissues; MTHFD2, which performs these two activities, was found in developing tissues only. CAUTION: Was originally (PubMed:12937168) thought to be a trifunctional enzyme but only a formyltetrahydrofolate synthetase activity was detected and not a dehydrogenase/cyclohydrogenase activity. SEQUENCE CAUTION: Sequence=AAH08629.1; Type=Erroneous initiation; Sequence=BAB15009.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6UB35
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00630 - Glyoxylate and dicarboxylate metabolism hsa00670 - One carbon pool by folate hsa01100 - Metabolic pathways
Protein Q6UB35 (Reactome details) participates in the following event(s):
R-HSA-5696839 MTHFD1L ligates HCOOH to THF to form 10-formyl-THF R-HSA-6801456 MTHFD1L transforms 10-formyl-THF to HCOOH and THF R-HSA-196757 Metabolism of folate and pterines R-HSA-196849 Metabolism of water-soluble vitamins and cofactors R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-1430728 Metabolism
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