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Mthfd1
Gene Detail
 Symbol
Name
ID
Mthfd1
methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
MGI:1342005
Synonyms DCS, E430024A07Rik, Mthfd
Feature Type protein coding gene
Genetic Map
Chromosome 12
33.52 cM, cytoband D2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr12:76255232-76319820 bp, + strand
From NCBI annotation of GRCm38

  64589 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55940  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: C1-tetrahydrofolate synthase
Gene Tree: Mthfd1

Human
homologs
Human Homolog MTHFD1, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
NCBI Gene ID 4522
neXtProt AC  NX_P11586
Human Synonyms  MTHFC, MTHFD
Human Chr (Location)  14q24; chr14:64388041-64460007 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human MTHFD1
Alleles
and
phenotypes
All alleles(73) : Gene trapped(68) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit altered amino acid levels and nucleotide metabolism related to dietary folate and choline concentrations.
 
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process cellular amino acid biosynthetic process, folic acid-containing compound biosynthetic process, ...
Component cytoplasm, cytosol, ...
Function ATP binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (309)    Tissues (130)    Images (41)
Theiler Stages: 10, 15, 17, 18, 19, 22, 23, 25, 28
Assay TypeResults
RNA in situ 301
Northern blot 4
RT-PCR 4
cDNA source data(211)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(213) cDNA(212) Primer pair(1)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000021048 (Evidence)
Entrez Gene108156 (Evidence)
UniGene29584
DFCITC1573267, TC1639913
DoTSDT.101312898, DT.101715355, DT.532591, DT.94374802, DT.97385528
NIA Mouse Gene IndexU014111
EC1.5.1.5, 3.5.4.9, 6.3.4.3
Consensus CDS ProjectCCDS25990.1
International Mouse Knockout Project StatusMthfd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 108156 NCBI Gene Model | MGI Sequence Detail 64589 C57BL/6J ±  kb
transcript NM_138745 RefSeq | MGI Sequence Detail 3324 C57BL/6 
polypeptide Q922D8 UniProt | EBI | MGI Sequence Detail 935 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(2) UniProt(5)
Polymorphisms SNPs within 2kb(577 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000559 Formate-tetrahydrofolate ligase, FTHFS
InterPro IPR020628 Formate-tetrahydrofolate ligase, FTHFS, conserved site
InterPro IPR016040 NAD(P)-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR000672 Tetrahydrofolate dehydrogenase/cyclohydrolase
InterPro IPR020630 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
InterPro IPR020867 Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site
InterPro IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
Protein Ontology PR:000010722 C-1-tetrahydrofolate synthase, cytoplasmic
Graphical View of Protein Domain Structure
References (Earliest) J:2333 Peri KG, et al., Transcriptional regulation of murine NADP(+)-dependent methylenetetrahydrofolate dehydrogenase-cyclohydrolase-synthetase. FEBS Lett. 1991 Dec 2;294(1-2):113-5
(Latest) J:199578 Christensen KE, et al., A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development. Hum Mol Genet. 2013 Sep 15;22(18):3705-19
All references(49)
Other
accession IDs
MGD-MRK-12591, MGI:2444093, MGI:97181

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory