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

    Gene ID: 270685, updated on 27-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
    • 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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    Related articles in PubMed

    1. Deletion of the neural tube defect-associated gene Mthfd1l disrupts one-carbon and central energy metabolism in mouse embryos. Bryant JD, et al. J Biol Chem, 2018 Apr 20. PMID 29483189, Free PMC Article
    2. Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. Momb J, et al. Proc Natl Acad Sci U S A, 2013 Jan 8. PMID 23267094, Free PMC Article
    3. Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos. Pike ST, et al. J Biol Chem, 2010 Feb 12. PMID 19948730, Free PMC Article
    4. Optical coherence tomography-guided Brillouin microscopy highlights regional tissue stiffness differences during anterior neural tube closure in the Mthfd1l murine mutant. Ambekar YS, et al. Development, 2024 May 15. PMID 38682273,
    5. Deletion of neural tube defect-associated gene Mthfd1l causes reduced cranial mesenchyme density. Shin M, et al. Birth Defects Res, 2019 Nov 15. PMID 31518072, Free PMC Article

    See all (38) citations in PubMed

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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