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

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: Predicted to enable aldehyde dehydrogenase (NAD+) activity and formyltetrahydrofolate dehydrogenase activity. Predicted to be involved in 10-formyltetrahydrofolate catabolic process; biosynthetic process; and one-carbon metabolic process. Located in mitochondrion. Used to study non-alcoholic fatty liver disease. Orthologous to human ALDH1L2 (aldehyde dehydrogenase 1 family member L2). [provided by Alliance of Genome Resources, Apr 2022]
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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 10; 10 C1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109	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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Go to the top of the page Help

Alleles

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

Targeted (1)
Endonuclease-mediated (2)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Homology

Homologs of the Aldh1l2 gene: The Aldh1l2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 347 organisms have orthologs with human gene Aldh1l2
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aldehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables formyltetrahydrofolate dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables formyltetrahydrofolate dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables formyltetrahydrofolate dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables hydroxymethyl-, formyl- and related transferase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation 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
acts_upstream_of_or_within one-carbon metabolic process	IEA Inferred from Electronic Annotation more info
involved_in one-carbon metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

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

EC 1.5.1.6

XP_011241705.2

EC 1.5.1.6

XP_036011636.1

EC 1.5.1.6

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

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

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: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

83320386..83370008 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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