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    Aldh1l1 aldehyde dehydrogenase 1 family, member L1 [ Mus musculus (house mouse) ]

    Gene ID: 107747, updated on 10-Dec-2024

    Summary

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    Official Symbol
    Aldh1l1provided by MGI
    Official Full Name
    aldehyde dehydrogenase 1 family, member L1provided by MGI
    Primary source
    MGI:MGI:1340024
    See related
    Ensembl:ENSMUSG00000030088 AllianceGenome:MGI:1340024
    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
    FDH; Fthfd; Neut2; 1810048F20Rik
    Summary
    Enables formyltetrahydrofolate dehydrogenase activity. Involved in 10-formyltetrahydrofolate catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brown fat; genitourinary system; nervous system; and sensory organ. Orthologous to human ALDH1L1 (aldehyde dehydrogenase 1 family member L1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in liver adult (RPKM 382.3), kidney adult (RPKM 107.4) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aldh1l1 in Genome Data Viewer
    Location:
    6 D1; 6 40.16 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (90527751..90576153)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (90550768..90599171)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 100 Neighboring gene STARR-seq mESC enhancer starr_16619 Neighboring gene predicted gene, 53295 Neighboring gene Kruppel-like transcription factor 15 Neighboring gene STARR-seq mESC enhancer starr_16625 Neighboring gene STARR-seq mESC enhancer starr_16627 Neighboring gene STARR-positive B cell enhancer ABC_E8115 Neighboring gene predicted gene 15756 Neighboring gene solute carrier family 41, member 3 Neighboring gene predicted gene, 53296 Neighboring gene IQ motif and Sec7 domain 1 Neighboring gene STARR-positive B cell enhancer ABC_E8116 Neighboring gene STARR-seq mESC enhancer starr_16629 Neighboring gene STARR-positive B cell enhancer ABC_E6454 Neighboring gene STARR-positive B cell enhancer ABC_E10393 Neighboring gene VISTA enhancer mm1470 Neighboring gene STARR-positive B cell enhancer ABC_E10394 Neighboring gene ribosomal protein L21, pseudogene 12

    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. Altered protein expression detected in the F1 offspring of male mice exposed to fission neutrons. Giometti CS, et al. Mutat Res, 1994 Jan. PMID 7506389
    2. PRMT1 is the predominant type I protein arginine methyltransferase in mammalian cells. Tang J, et al. J Biol Chem, 2000 Mar 17. PMID 10713084
    3. Disruption of histidine catabolism in NEUT2 mice. Cook RJ. Arch Biochem Biophys, 2001 Aug 15. PMID 11488596
    4. The astrocyte marker Aldh1L1 does not reliably label enteric glial cells. Boesmans W, et al. Neurosci Lett, 2014 Apr 30. PMID 24589880
    5. Cytosolic 10-formyltetrahydrofolate dehydrogenase regulates glycine metabolism in mouse liver. Krupenko NI, et al. Sci Rep, 2019 Oct 17. PMID 31624291, Free PMC Article

    See all (98) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A necessary role of DNMT3A in endurance exercise by suppressing ALDH1L1-mediated oxidative stress.
      Title: A necessary role of DNMT3A in endurance exercise by suppressing ALDH1L1-mediated oxidative stress.
    2. Cytosolic 10-formyltetrahydrofolate dehydrogenase regulates glycine metabolism in mouse liver.
      Title: Cytosolic 10-formyltetrahydrofolate dehydrogenase regulates glycine metabolism in mouse liver.
    3. Collectively, MNSFbeta/FDH complex formation may positively regulate apoptosis in thymocytes.
      Title: Ubiquitin-like protein MNSFβ covalently binds to cytosolic 10-formyltetrahydrofolate dehydrogenase and regulates thymocyte function.
    4. Aldh1L1 is not a suitable marker for enteric glial cells.
      Title: The astrocyte marker Aldh1L1 does not reliably label enteric glial cells.
    5. This study demonistrated that Aldh1L1 is expressed by postnatal neural stem cells in mice.
      Title: Aldh1L1 is expressed by postnatal neural stem cells in vivo.
    6. These data provide the first evidence for localized differences in folate metabolism within the early neural tube and suggest that folate might modulate proliferation via effects on midline Aldh1l1(+) cells.
      Title: The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 aldehyde dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldehyde dehydrogenase (NADP+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aldehyde dehydrogenase [NAD(P)+] activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables formyltetrahydrofolate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables formyltetrahydrofolate dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables formyltetrahydrofolate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in 10-formyltetrahydrofolate catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in 10-formyltetrahydrofolate catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in NADPH regeneration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in NADPH regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in folic acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cytosolic 10-formyltetrahydrofolate dehydrogenase
    Names
    10-FTHFDH
    10-formyltetrahydrofolate dehydrogenase
    aldehyde dehydrogenase family 1 member L1
    formyltetrahydrofolate dehydrogenase
    NP_001343341.1
    NP_081682.1
    XP_030110912.1

    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_001356412.1 → NP_001343341.1  cytosolic 10-formyltetrahydrofolate dehydrogenase

      Status: VALIDATED

      Source sequence(s)
      AC122050
      Consensus CDS
      CCDS20361.1
      UniProtKB/Swiss-Prot
      Q8R0Y6
      UniProtKB/TrEMBL
      Q8CIF2
      Related
      ENSMUSP00000032175.9, ENSMUST00000032175.11
      Conserved Domains (4) summary
      cd07140
      Location:417 → 902
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:1 → 203
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:206 → 306
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:325 → 391
      PP-binding; Phosphopantetheine attachment site

    2. NM_027406.2 → NP_081682.1  cytosolic 10-formyltetrahydrofolate dehydrogenase

      See identical proteins and their annotated locations for NP_081682.1

      Status: VALIDATED

      Source sequence(s)
      AC122050
      Consensus CDS
      CCDS20361.1
      UniProtKB/Swiss-Prot
      Q8R0Y6
      UniProtKB/TrEMBL
      Q8CIF2
      Related
      ENSMUSP00000114304.2, ENSMUST00000130418.8
      Conserved Domains (4) summary
      cd07140
      Location:417 → 902
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:1 → 203
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:206 → 306
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:325 → 391
      PP-binding; Phosphopantetheine attachment site

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      90527751..90576153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030255052.2 → XP_030110912.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      Conserved Domains (3) summary
      cd07140
      Location:132 → 617
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      pfam00550
      Location:40 → 106
      PP-binding; Phosphopantetheine attachment site
      cl14785
      Location:1 → 21
      FMT_C_like; Carboxy-terminal domain of Formyltransferase and similar domains
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R0Y6.1 GenPept UniProtKB/Swiss-Prot:Q8R0Y6

    Gene LinkOut

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