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    Aldh1l2 aldehyde dehydrogenase 1 family, member L2 [ Mus musculus (house mouse) ]

    Gene ID: 216188, updated on 9-Dec-2024

    Summary

    Official Symbol
    Aldh1l2provided by MGI
    Official Full Name
    aldehyde dehydrogenase 1 family, member L2provided by MGI
    Primary source
    MGI:MGI:2444680
    See related
    Ensembl:ENSMUSG00000020256 AllianceGenome:MGI:2444680
    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
    mtFDH; D330038I09Rik
    Summary
    Enables formyltetrahydrofolate dehydrogenase activity. Involved in 10-formyltetrahydrofolate catabolic process; NADPH regeneration; and folic acid metabolic process. Acts upstream of or within with a positive effect on fatty acid beta-oxidation. Located in mitochondrion. Used to study metabolic dysfunction-associated steatotic liver disease. Orthologous to human ALDH1L2 (aldehyde dehydrogenase 1 family member L2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in CNS E18 (RPKM 8.3), whole brain E14.5 (RPKM 6.4) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Aldh1l2 in Genome Data Viewer
    Location:
    10 C1; 10 41.27 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (83320386..83370008, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (83487447..83534146, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6892 Neighboring gene STARR-seq mESC enhancer starr_27390 Neighboring gene NOP protein chaperone 1 Neighboring gene STARR-seq mESC enhancer starr_27391 Neighboring gene STARR-seq mESC enhancer starr_27392 Neighboring gene STARR-seq mESC enhancer starr_27393 Neighboring gene STARR-seq mESC enhancer starr_27394 Neighboring gene destrin pseudogene Neighboring gene WASH complex subunit 4 Neighboring gene adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC19039

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    located_in mitochondrion PubMed 
    located_in mitochondrion  
    located_in nucleoplasm  
    located_in nucleoplasm  

    General protein information

    Preferred Names
    mitochondrial 10-formyltetrahydrofolate dehydrogenase
    Names
    aldehyde dehydrogenase 1L2
    aldehyde dehydrogenase family 1 member L2, mitochondrial
    mitochondrial 10-FTHFDH
    probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2
    NP_705771.2
    XP_011241705.2
    XP_036011636.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_153543.2NP_705771.2  mitochondrial 10-formyltetrahydrofolate dehydrogenase

      See identical proteins and their annotated locations for NP_705771.2

      Status: VALIDATED

      Source sequence(s)
      AC113014, AK141954, CJ130150
      Consensus CDS
      CCDS24077.1
      UniProtKB/Swiss-Prot
      E9QLV8, Q8K009
      UniProtKB/TrEMBL
      D3Z6B9
      Related
      ENSMUSP00000020497.8, ENSMUST00000020497.14
      Conserved Domains (5) summary
      cd07140
      Location:438923
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:23225
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:228327
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      COG0223
      Location:22326
      Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
      pfam00550
      Location:346410
      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_000076.7 Reference GRCm39 C57BL/6J

      Range
      83320386..83370008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011243403.4XP_011241705.2  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X1

      UniProtKB/TrEMBL
      D3Z6B9
      Conserved Domains (4) summary
      cd07140
      Location:307792
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08703
      Location:97196
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:215279
      PP-binding; Phosphopantetheine attachment site
      cl00395
      Location:2994
      FMT_core; Formyltransferase, catalytic core domain
    2. XM_036155743.1XP_036011636.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X2

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