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; chr14:64854759-64926725 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MTHFD1

Alleles and phenotypes

All alleles(72) : Targeted(4) Gene trapped(68)
 

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: (22 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 Type	Results
RNA in situ	301
Northern blot	4
RT-PCR	4

cDNA source data(210)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(212) cDNA(211) Primer pair(1)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000021048 (Evidence)
Entrez Gene	108156 (Evidence)
UniGene	29584
DFCI	TC1573267, TC1639913
DoTS	DT.101312898, DT.101715355, DT.532591, DT.94374802, DT.97385528
NIA Mouse Gene Index	U014111
EC	1.5.1.5, 3.5.4.9, 6.3.4.3
Consensus CDS Project	CCDS25990.1
International Mouse Knockout Project Status	Mthfd1

Sequences

Length	Strain/Species
genomic	108156	NCBI Gene Model | MGI Sequence Detail	64589	C57BL/6J
transcript	NM_138745	RefSeq | MGI Sequence Detail	3324	C57BL/6
polypeptide	Q922D8	UniProt | EBI | MGI Sequence Detail	935	Not Applicable

All sequences(66) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(383 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000559	Formate-tetrahydrofolate ligase, FTHFS
InterPro	IPR020628	Formate-tetrahydrofolate ligase, FTHFS, conserved site
InterPro	IPR016040	NAD(P)-binding domain
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(49)

Other accession IDs

MGD-MRK-12591, MGI:2444093, MGI:97181