ALDH1L1

10-formyltetrahydrofolate dehydrogenase is an enzyme that in humans is encoded by the ALDH1L1 gene.^[5]

ALDH1L1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BW0, 2CFI, 2CQ8
Identifiers
Aliases	ALDH1L1, 10-FTHFDH, 10-fTHF, FDH, FTHFD, aldehyde dehydrogenase 1 family member L1
External IDs	OMIM: 600249; MGI: 1340024; HomoloGene: 122031; GeneCards: ALDH1L1; OMA:ALDH1L1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q21.3 Start 126,103,562 bp[1] End 126,197,994 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 D1 Start 90,463,409 bp[2] End 90,577,185 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver olfactory zone of nasal mucosa human kidney muscle of thigh parotid gland gastrocnemius muscle optic nerve glutes gastric mucosa caudate nucleus Top expressed in left lobe of liver right kidney human kidney proximal tubule left colon intestinal villus jejunum adrenal gland white adipose tissue optic nerve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function formyltetrahydrofolate dehydrogenase activity oxidoreductase activity hydroxymethyl-, formyl- and related transferase activity catalytic activity aldehyde dehydrogenase (NAD+) activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Cellular component extracellular exosome mitochondrion cytoplasm cytosol Biological process metabolism one-carbon metabolic process biosynthesis 10-formyltetrahydrofolate catabolic process folic acid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10840 107747 Ensembl ENSG00000144908 ENSMUSG00000030088 UniProt O75891 Q8R0Y6 RefSeq (mRNA) NM_001270364 NM_001270365 NM_012190 NM_144776 NM_027406 NM_001356412 RefSeq (protein) NP_001257293 NP_001257294 NP_036322 NP_081682 NP_001343341 Location (UCSC) Chr 3: 126.1 – 126.2 Mb Chr 6: 90.46 – 90.58 Mb PubMed search [3] [4]
Wikidata
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The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family and is responsible for formate oxidation in vivo. Deficiencies in this gene can result in an accumulation of formate and subsequent methanol poisoning.^[5]