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Mthfd1 Gene Detail
Summary
  • Symbol
    Mthfd1
  • Name
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
  • Synonyms
    DCS, E430024A07Rik, Mthfd
  • Feature Type
    protein coding gene
  • IDs
    MGI:1342005
    NCBI Gene: 108156
  • Gene Overview
    MyGene.info: MTHFD1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr12:76255298-76319803 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      64506 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 33.52 cM, cytoband D2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CIMAH, MTHFC, MTHFD
  • Links
    NCBI Gene ID: 4522
    neXtProt AC: NX_P11586
    UniProt: P11586

  • Chr Location
    14q23.3; chr14:64388041-64460007 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human MTHFD1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 3 alleles in 5 genetic backgrounds
    20 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.
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
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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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021048 Ensembl Gene Model | MGI Sequence Detail 64506 C57BL/6J ±  kb
    transcript ENSMUST00000021443 Ensembl | MGI Sequence Detail 3241 Not Applicable  
    polypeptide ENSMUSP00000021443 Ensembl | MGI Sequence Detail 935 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      573 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • EC
    • InterPro Domains
      IPR000559 Formate-tetrahydrofolate ligase, FTHFS
      IPR020628 Formate-tetrahydrofolate ligase, FTHFS, conserved site
      IPR036291 NAD(P)-binding domain superfamily
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR000672 Tetrahydrofolate dehydrogenase/cyclohydrolase
      IPR020630 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      IPR020867 Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site
      IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
    Molecular
    Reagents
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    • All nucleic 216
      cDNA 213
      Primer pair 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-12591, MGI:2444093, MGI:97181
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 7
      Gene Ontology 8
      Phenotypes 20
    • 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:248368 Pjetri E, et al., Deletion of one allele of Mthfd1 (methylenetetrahydrofolate dehydrogenase 1) impairs learning in mice. Behav Brain Res. 2017 Aug 14;332(None):71-74

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory