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Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [ Mus musculus (house mouse) ]

Gene ID: 270685, updated on 2-Nov-2024

Summary

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Official Symbol
Mthfd1lprovided by MGI
Official Full Name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-likeprovided by MGI
Primary source
MGI:MGI:1924836
See related
Ensembl:ENSMUSG00000040675 AllianceGenome:MGI:1924836
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Fthfsdc1; 2410004L15Rik
Summary
Predicted to enable ATP binding activity; formate-tetrahydrofolate ligase activity; and protein homodimerization activity. Involved in embryonic neurocranium morphogenesis; embryonic viscerocranium morphogenesis; and neural tube closure. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; embryo ectoderm; genitourinary system; and sensory organ. Used to study neural tube defect. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in liver E14 (RPKM 10.2), liver E14.5 (RPKM 8.8) and 21 other tissues See more
Orthologs
human all
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Genomic context

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See Mthfd1l in Genome Data Viewer
Location:
10 A1; 10 2.06 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (3918282..4117081)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (3972892..4167081)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing, family G (with RhoGef domain) member 1 Neighboring gene STARR-seq mESC enhancer starr_25666 Neighboring gene mitochondrial ribosomal protein S36 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E2926 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene ring finger protein 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_25663 Neighboring gene STARR-seq mESC enhancer starr_25662 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:6246193-6246440 Neighboring gene STARR-seq mESC enhancer starr_25660 Neighboring gene predicted gene, 40591 Neighboring gene STARR-seq mESC enhancer starr_25659 Neighboring gene predicted gene, 25515 Neighboring gene STARR-seq mESC enhancer starr_25656 Neighboring gene predicted gene, 25369 Neighboring gene predicted gene, 30570

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Optical coherence tomography-guided Brillouin microscopy highlights regional tissue stiffness differences during anterior neural tube closure in the Mthfd1l murine mutant.
    Title: Optical coherence tomography-guided Brillouin microscopy highlights regional tissue stiffness differences during anterior neural tube closure in the Mthfd1l murine mutant.
  2. This study performed untargeted metabolomics on whole Mthfd1l-null and wildtype mouse embryos in combination with isotope tracer analysis in mouse embryonic fibroblast cell lines to identify Mthfd1l deletion-induced disruptions in 1-carbon metabolism, glycolysis, and the TCA cycle. Mthfd1l-null fibroblasts have altered methionine synthesis, indicating that Mthfd1l deletion impairs the methyl cycle.
    Title: Deletion of the neural tube defect-associated gene Mthfd1l disrupts one-carbon and central energy metabolism in mouse embryos.
  3. Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice.
    Title: Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice.
  4. Data show that the MTHFD1L enzyme is present in mitochondria from normal embryonic tissues and embryonic fibroblast cell lines, and embryonic mitochondria possess the ability to synthesize formate from glycine.
    Title: Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Gene trapped (1) 
  • Targeted (2)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP binding ISO
Inferred from Sequence Orthology
more info
  
enables formate-tetrahydrofolate ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables formate-tetrahydrofolate ligase activity ISO
Inferred from Sequence Orthology
more info
  
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in 10-formyltetrahydrofolate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within 10-formyltetrahydrofolate biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in 10-formyltetrahydrofolate biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in embryonic neurocranium morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in embryonic viscerocranium morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in folic acid-containing compound metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in formate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in formate metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in neural tube closure IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tetrahydrofolate interconversion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
monofunctional C1-tetrahydrofolate synthase, mitochondrial
Names
formyltetrahydrofolate synthetase domain containing 1
NP_001164256.1
NP_001164257.1
NP_758512.3
XP_036011688.1
XP_036011689.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001170785.1 → NP_001164256.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001164256.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC153570, AC159148, AK036284
    Consensus CDS
    CCDS56672.1
    UniProtKB/Swiss-Prot
    Q3TVQ0, Q3V3R1, Q3V402, Q80V98, Q8CAL0, Q8K2N5
    Related
    ENSMUSP00000112897.2, ENSMUST00000120585.8
    Conserved Domains (4) summary
    PLN02759
    Location:351 → 977
    PLN02759; Formate--tetrahydrofolate ligase
    COG0190
    Location:82 → 287
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:73 → 179
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    pfam02882
    Location:182 → 337
    THF_DHG_CYH_C; Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

  2. NM_001170786.1 → NP_001164257.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001164257.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC153570, AC159148, AK160025
    Consensus CDS
    CCDS56672.1
    UniProtKB/Swiss-Prot
    Q3TVQ0, Q3V3R1, Q3V402, Q80V98, Q8CAL0, Q8K2N5
    Related
    ENSMUSP00000036178.8, ENSMUST00000043735.8
    Conserved Domains (4) summary
    PLN02759
    Location:351 → 977
    PLN02759; Formate--tetrahydrofolate ligase
    COG0190
    Location:82 → 287
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:73 → 179
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    pfam02882
    Location:182 → 337
    THF_DHG_CYH_C; Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

  3. NM_172308.4 → NP_758512.3  monofunctional C1-tetrahydrofolate synthase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_758512.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC153570, AC159148, AK028211
    Consensus CDS
    CCDS56672.1
    UniProtKB/Swiss-Prot
    Q3TVQ0, Q3V3R1, Q3V402, Q80V98, Q8CAL0, Q8K2N5
    Related
    ENSMUSP00000112870.2, ENSMUST00000117291.8
    Conserved Domains (4) summary
    PLN02759
    Location:351 → 977
    PLN02759; Formate--tetrahydrofolate ligase
    COG0190
    Location:82 → 287
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:73 → 179
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    pfam02882
    Location:182 → 337
    THF_DHG_CYH_C; Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    3918282..4117081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036155795.1 → XP_036011688.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam01268
    Location:2 → 270
    FTHFS; Formate--tetrahydrofolate ligase

  2. XM_036155796.1 → XP_036011689.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam01268
    Location:2 → 270
    FTHFS; Formate--tetrahydrofolate ligase

RNA

  1. XR_004936188.1 RNA Sequence

  2. XR_004936189.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3V3R1.2 GenPept UniProtKB/Swiss-Prot:Q3V3R1

Gene LinkOut

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