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Mthfd1l
Gene Detail
Symbol

Name
ID
Mthfd1l
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MGI:1924836
Synonyms
2410004L15Rik, Fthfsdc1
Feature Type
protein coding gene
Genetic Map
Chromosome 10
2.06 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr10:3973118-4167081 bp, + strand
From VEGA annotation of GRCm38

  193964 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56706  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MTHFD1L
Protein SuperFamily: C1-tetrahydrofolate synthase
Gene Tree: Mthfd1l

Human
homologs
MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 25902
neXtProt AC: NX_Q6UB35

Human Synonyms: dJ292B18.2, FTHFSDC1, MTC1THFS

Human Chr (Location): 6q25.1; chr6:150865679-151101887 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(122) : Gene trapped(117) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous deletion of this gene causes embryonic lethality, delayed embryonic growth, craniofacial anomalies, and neural tube defects including craniorachischisis, exencephaly and/or a wavy neural tube. Maternal formate supplementation reduces the incidence of NTDs and improves embryonic growth.
 
Human Diseases Modeled in Mice Using Mthfd1l (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Mthfd1l interacts with 122 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process 10-formyltetrahydrofolate biosynthetic process, embryonic neurocranium morphogenesis, ...
Component membrane, mitochondrion
Function ATP binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (204)    Tissues (108)    Images (35)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 204
cDNA source data(81)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mthfd1l ; ZFIN mthfd1l    NEW 
Molecular
reagents
All nucleic(81) cDNA(81)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000029856 (Evidence)
Ensembl Gene Model ENSMUSG00000040675 (Evidence)
Entrez Gene 270685 (Evidence)
UniGene 184752
DFCI TC1574513, TC1604475
DoTS DT.101331087, DT.110605801, DT.40169619, DT.99852317
NIA Mouse Gene Index U043043
EC 6.3.4.3
PDB 2EO2
Consensus CDS Project CCDS56672.1
International Mouse Phenotyping Consortium Status Mthfd1l
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029856 VEGA Gene Model | MGI Sequence Detail 193964 C57BL/6J ±  kb
transcript OTTMUST00000074096 VEGA | MGI Sequence Detail 3669 Not Applicable 
polypeptide OTTMUSP00000038447 VEGA | MGI Sequence Detail 977 Not Applicable 

For the selected sequences
All sequences(61) RefSeq(8) UniProt(1)
Polymorphisms
SNPs within 2kb(1153 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 IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
Protein Ontology PR:000010723 monofunctional C1-tetrahydrofolate synthase, mitochondrial
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:214110 Shin M, et al., Mitochondrial MTHFD2L is a dual redox cofactor-specific methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase expressed in both adult and embryonic tissues. J Biol Chem. 2014 May 30;289(22):15507-17
All references(45)
Disease annotation references (1)
Other
accession IDs
MGI:2143659

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
08/25/2015
MGI 6.0
The Jackson Laboratory