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Mthfd1l Gene Detail
Summary
  • Symbol
    Mthfd1l
  • Name
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
  • Synonyms
    2410004L15Rik, Fthfsdc1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924836
    NCBI Gene: 270685
  • Gene Overview
    MyGene.info: MTHFD1L
Location & Maps
more
  • Sequence Map
    Chr10:3973118-4167081 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      193964 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 2.06 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
    Orthology source: HGNC, HomoloGene
  • Synonyms
    dJ292B18.2, FTHFSDC1, MTC1THFS
  • Links
    NCBI Gene ID: 25902
    neXtProt AC: NX_Q6UB35

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

Human Diseases
more
  • Diseases
    1 with Mthfd1l mouse models

Human Disease Mouse Models
       Neural Tube Defects, Susceptibility To; NTD   OMIM: 182940 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 2 alleles in 2 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    1148 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000010723 monofunctional C1-tetrahydrofolate synthase, mitochondrial
  • PDB
  • EC
  • InterPro Domains
    IPR000559 Formate-tetrahydrofolate ligase, FTHFS
    IPR020628 Formate-tetrahydrofolate ligase, FTHFS, conserved site
    IPR016040 NAD(P)-binding domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR000672 Tetrahydrofolate dehydrogenase/cyclohydrolase
    IPR020630 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
Molecular
Reagents
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  • All nucleic 81
    cDNA 81

    Microarray probesets 3
Other
Accession IDs
less
MGI:2143659
References
more
  • Summaries
    All 42
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 8
    Phenotypes 13
  • 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

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
06/22/2016
MGI 6.04
The Jackson Laboratory