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

Gene ID: 216188, updated on 7-Apr-2025

Summary

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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, Apr 2025]
Expression
Biased expression in CNS E18 (RPKM 8.3), whole brain E14.5 (RPKM 6.4) and 13 other tissues See more
Orthologs
human all
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Genomic context

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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

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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. Acetylation of aldehyde dehydrogenase ALDH1L2 regulates cellular redox balance and the chemosensitivity of colorectal cancer to 5-fluorouracil. Li C, et al. J Biol Chem, 2023 Sep. PMID 37507016, Free PMC Article
  2. Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder. Krupenko NI, et al. Hum Genomics, 2020 Nov 9. PMID 33168096, Free PMC Article
  3. Distinct inflammatory Th17 subsets emerge in autoimmunity and infection. Bouch RJ, et al. J Exp Med, 2023 Oct 2. PMID 37367944, Free PMC Article
  4. ALDH1L2 regulation of formate, formyl-methionine, and ROS controls cancer cell migration and metastasis. Hennequart M, et al. Cell Rep, 2023 Jun 27. PMID 37245210
  5. FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2. Cheng J, et al. J Gastroenterol Hepatol, 2024 Oct. PMID 38923573

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2.
    Title: FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2.
  2. Acetylation of aldehyde dehydrogenase ALDH1L2 regulates cellular redox balance and the chemosensitivity of colorectal cancer to 5-fluorouracil.
    Title: Acetylation of aldehyde dehydrogenase ALDH1L2 regulates cellular redox balance and the chemosensitivity of colorectal cancer to 5-fluorouracil.
  3. Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.
    Title: Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.
Submit: New GeneRIF Correction

Variation

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Alleles

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

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

Clone Names

  • MGC19039

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables aldehyde dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
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
  
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in NADPH regeneration ISO
Inferred from Sequence Orthology
more info
  
involved_in biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within_positive_effect fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in folic acid metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in one-carbon metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrion HDA PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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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)

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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_153543.2 → NP_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:438 → 923
    ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
    cd08647
    Location:23 → 225
    FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
    cd08703
    Location:228 → 327
    FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
    COG0223
    Location:22 → 326
    Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
    pfam00550
    Location:346 → 410
    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_011243403.4 → XP_011241705.2  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X1

    UniProtKB/TrEMBL
    D3Z6B9
    Conserved Domains (4) summary
    cd07140
    Location:307 → 792
    ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
    cd08703
    Location:97 → 196
    FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
    pfam00550
    Location:215 → 279
    PP-binding; Phosphopantetheine attachment site
    cl00395
    Location:29 → 94
    FMT_core; Formyltransferase, catalytic core domain

  2. XM_036155743.1 → XP_036011636.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X2

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K009.2 GenPept UniProtKB/Swiss-Prot:Q8K009

Gene LinkOut

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