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

Summary

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: Predicted to enable aldehyde dehydrogenase (NAD+) activity; aldehyde dehydrogenase (NADP+) activity; and formyltetrahydrofolate dehydrogenase activity. Predicted to be involved in 10-formyltetrahydrofolate catabolic process and biosynthetic process. Predicted to act upstream of or within one-carbon metabolic 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, Apr 2022]
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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Cytosolic 10-formyltetrahydrofolate dehydrogenase regulates glycine metabolism in mouse liver.
Title: Cytosolic 10-formyltetrahydrofolate dehydrogenase regulates glycine metabolism in mouse liver.
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.
Aldh1L1 is not a suitable marker for enteric glial cells.
Title: The astrocyte marker Aldh1L1 does not reliably label enteric glial cells.
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.
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.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aldh1l1 (e-PCR), detects polymorphism
- UniSTS:526033

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 catalytic activity	IEA Inferred from Electronic Annotation 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	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
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 biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in folic acid metabolic process	ISO Inferred from Sequence Orthology more info
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 cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	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

EC 1.5.1.6

NP_081682.1

EC 1.5.1.6

XP_030110912.1

EC 1.5.1.6

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)

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
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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

90527751..90576153

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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