Human Gene MTHFD1 (ENST00000557370.3) Description and Page Index
  Description: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (from HGNC MTHFD1)
RefSeq Summary (NM_001364837): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK302747.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END##
Gencode Transcript: ENST00000557370.3
Gencode Gene: ENSG00000100714.17
Transcript (Including UTRs)
   Position: hg38 chr14:64,388,362-64,455,173 Size: 66,812 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg38 chr14:64,388,428-64,454,926 Size: 66,499 Coding Exon Count: 26 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr14:64,388,362-64,455,173)mRNA (may differ from genome)Protein (922 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: MTHFD1
Diseases sorted by gene-association score: neural tube defects, folate-sensitive* (870), neural tube defects (16), upper thoracic spina bifida cystica* (11), cervicothoracic spina bifida cystica* (11), cervical spina bifida cystica* (11), lumbosacral spina bifida cystica* (11), thoracolumbosacral spina bifida cystica* (11), total spina bifida cystica* (11), upper thoracic spina bifida aperta* (11), thoracolumbosacral spina bifida aperta* (11), lumbosacral spina bifida aperta* (11), cervical spina bifida aperta* (11), cervicothoracic spina bifida aperta* (11), total spina bifida aperta* (11), anencephaly (3), methylmalonic aciduria and homocystinuria, cblc type (2), colorectal cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.78 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 581.32 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.2066-0.321 Picture PostScript Text
3' UTR -71.60247-0.290 Picture PostScript Text

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.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Descriptions from all associated GenBank mRNAs
  AK302747 - Homo sapiens cDNA FLJ56016 complete cds, highly similar to C-1-tetrahydrofolate synthase, cytoplasmic.
LF384859 - JP 2014500723-A/192362: Polycomb-Associated Non-Coding RNAs.
MA620436 - JP 2018138019-A/192362: Polycomb-Associated Non-Coding RNAs.
AK095514 - Homo sapiens cDNA FLJ38195 fis, clone FCBBF1000314.
AK312361 - Homo sapiens cDNA, FLJ92681, Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+dependent), methenyltetrahydrofolate cyclohydrolase,formyltetrahydrofolate synthetase (MTHFD1), mRNA.
BC050420 - Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase, mRNA (cDNA clone MGC:54112 IMAGE:5788176), complete cds.
AK309266 - Homo sapiens cDNA, FLJ99307.
BC009806 - Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase, mRNA (cDNA clone MGC:1372 IMAGE:3508998), complete cds.
J04031 - Human methylenetetrahydrofolate dehydrogenase- methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase mRNA, complete cds.
JD350479 - Sequence 331503 from Patent EP1572962.
JD173815 - Sequence 154839 from Patent EP1572962.
AB384767 - Synthetic construct DNA, clone: pF1KB3243, Homo sapiens MTHFD1 gene for C-1-tetrahydrofolate synthase, complete cds, without stop codon, in Flexi system.
DQ893634 - Synthetic construct clone IMAGE:100006264; FLH185317.01X; RZPDo839H09146D methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate s> (MTHFD1) gene, encodes complete protein.
DQ896853 - Synthetic construct Homo sapiens clone IMAGE:100011313; FLH185313.01L; RZPDo839H09145D methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate s> (MTHFD1) gene, encodes complete protein.
GQ891332 - Homo sapiens clone HEL-S-103d epididymis secretory sperm binding protein mRNA, complete cds.
LF329663 - JP 2014500723-A/137166: Polycomb-Associated Non-Coding RNAs.
MA565240 - JP 2018138019-A/137166: Polycomb-Associated Non-Coding RNAs.
LF329671 - JP 2014500723-A/137174: Polycomb-Associated Non-Coding RNAs.
MA565248 - JP 2018138019-A/137174: Polycomb-Associated Non-Coding RNAs.
LF329672 - JP 2014500723-A/137175: Polycomb-Associated Non-Coding RNAs.
MA565249 - JP 2018138019-A/137175: Polycomb-Associated Non-Coding RNAs.
LF329678 - JP 2014500723-A/137181: Polycomb-Associated Non-Coding RNAs.
MA565255 - JP 2018138019-A/137181: Polycomb-Associated Non-Coding RNAs.
LF329679 - JP 2014500723-A/137182: Polycomb-Associated Non-Coding RNAs.
MA565256 - JP 2018138019-A/137182: Polycomb-Associated Non-Coding RNAs.
LF329681 - JP 2014500723-A/137184: Polycomb-Associated Non-Coding RNAs.
MA565258 - JP 2018138019-A/137184: Polycomb-Associated Non-Coding RNAs.
LF329683 - JP 2014500723-A/137186: Polycomb-Associated Non-Coding RNAs.
MA565260 - JP 2018138019-A/137186: Polycomb-Associated Non-Coding RNAs.
LF329690 - JP 2014500723-A/137193: Polycomb-Associated Non-Coding RNAs.
MA565267 - JP 2018138019-A/137193: Polycomb-Associated Non-Coding RNAs.
LF329691 - JP 2014500723-A/137194: Polycomb-Associated Non-Coding RNAs.
MA565268 - JP 2018138019-A/137194: Polycomb-Associated Non-Coding RNAs.
BC001014 - Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase, mRNA (cDNA clone IMAGE:3344724), partial cds.
LF329694 - JP 2014500723-A/137197: Polycomb-Associated Non-Coding RNAs.
MA565271 - JP 2018138019-A/137197: Polycomb-Associated Non-Coding RNAs.
LF329705 - JP 2014500723-A/137208: Polycomb-Associated Non-Coding RNAs.
MA565282 - JP 2018138019-A/137208: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00630 - Glyoxylate and dicarboxylate metabolism
hsa00670 - One carbon pool by folate
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: AK312361, uc059cjs.1, uc059cjs.2, V9GYY3
UCSC ID: uc059cjs.2
RefSeq Accession: NM_001364837
CCDS: CCDS9763.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.