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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
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:3973118-4167081 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 2.06 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1148 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924836
protein coding gene Chr10:3972782-4167081 (.)
129S1/SvImJ MGP_129S1SvImJ_G0016975
protein coding gene Chr10:927543-1137150 (+)
A/J MGP_AJ_G0016953
protein coding gene Chr10:890141-1088243 (+)
AKR/J MGP_AKRJ_G0016918
protein coding gene Chr10:863988-1065177 (+)
BALB/cJ MGP_BALBcJ_G0016911
protein coding gene Chr10:852175-1050347 (+)
C3H/HeJ MGP_C3HHeJ_G0016736
protein coding gene Chr10:938407-1152672 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017374
protein coding gene Chr10:922217-1147440 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015080
protein coding gene Chr10:728037-919674 (+)
CAST/EiJ MGP_CASTEiJ_G0016318
protein coding gene Chr10:966131-1186169 (+)
CBA/J MGP_CBAJ_G0016708
protein coding gene Chr10:931492-1161949 (+)
DBA/2J MGP_DBA2J_G0016816
protein coding gene Chr10:890597-1087662 (+)
FVB/NJ MGP_FVBNJ_G0016811
protein coding gene Chr10:846363-1045853 (+)
LP/J MGP_LPJ_G0016891
protein coding gene Chr10:935181-1146116 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016842
protein coding gene Chr10:917953-1130124 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017411
protein coding gene Chr10:877171-1081209 (+)
PWK/PhJ MGP_PWKPhJ_G0016104
protein coding gene Chr10:883760-1079864 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015885
protein coding gene Chr10:1069682-1279746 (+)
WSB/EiJ MGP_WSBEiJ_G0016379
protein coding gene Chr10:911272-1128967 (+)



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
    UniProt: Q6UB35

  • Chr Location
    6q25.1; chr6:150865679-151101887 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Mthfd1l mouse models

Human Disease Mouse Models
      
IDs
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
less
  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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 ENSMUSG00000040675 Ensembl Gene Model | MGI Sequence Detail 193964 C57BL/6J ±  kb
    transcript ENSMUST00000043735 Ensembl | MGI Sequence Detail 3535 Not Applicable  
    polypeptide ENSMUSP00000036178 Ensembl | MGI Sequence Detail 977 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • PDB
    • 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
      IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
    Molecular
    Reagents
    less
    • All nucleic 88
      cDNA 85
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2143659
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 9
      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:263692 Bryant JD, et al., Deletion of the neural tube defect-associated gene Mthfd1l disrupts one-carbon and central energy metabolism in mouse embryos. J Biol Chem. 2018 Apr 20;293(16):5821-5833

    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
    11/27/2018
    MGI 6.13
    The Jackson Laboratory