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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 zebrafish

Protein SuperFamily: C1-tetrahydrofolate synthase
Gene Tree: Mthfd1l

Human
homologs
Human Homolog MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
NCBI Gene ID 25902
neXtProt AC  NX_Q6UB35
Human Synonyms  dJ292B18.2, FTHFSDC1, MTC1THFS
Human Chr (Location)  6q25.1; chr6:150865679-151101887 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(122) : Gene trapped(117) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Mthfd1l (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Mthfd1l interacts with 122 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process 10-formyltetrahydrofolate biosynthetic process, folic acid-containing compound biosynthetic process, ...
Component membrane, mitochondrion
Function ATP binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (204)    Tissues (108)    Images (35)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 204
cDNA source data(81)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(81) cDNA(81)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000029856 (Evidence)
Ensembl Gene ModelENSMUSG00000040675 (Evidence)
Entrez Gene270685 (Evidence)
UniGene184752
DFCITC1574513, TC1604475
DoTSDT.101331087, DT.110605801, DT.40169619, DT.99852317
NIA Mouse Gene IndexU043043
EC6.3.4.3
PDB2EO2
Consensus CDS ProjectCCDS56672.1
International Mouse Knockout Project StatusMthfd1l
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029856 VEGA Gene Model | MGI Sequence Detail 193964 C57BL/6J ±  kb
transcript OTTMUST00000074098 VEGA | MGI Sequence Detail 3687 Not Applicable 
polypeptide OTTMUSP00000038449 VEGA | MGI Sequence Detail 977 Not Applicable 

For the selected sequences
All sequences(61) RefSeq(10) 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:193285 Momb J, et al., Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):549-54
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
08/12/2014
MGI 5.19
The Jackson Laboratory