ALDH1L1 Gene Summary [Human]
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. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Details
| Type | Protein Coding |
| Official Symbol | ALDH1L1 |
| Official Name | aldehyde dehydrogenase 1 family member L1 [Source:HGNC Symbol;Acc:HGNC:3978] |
| Ensembl ID | ENSG00000144908 |
| Bio databases IDs | |
| Aliases | aldehyde dehydrogenase 1 family member L1, cytosolic 10-formyltetrahydrofolate dehydrogenase |
| Synonyms | 10-fTHF, 10-FTHFDH, 1810048F20Rik, aldehyde dehydrogenase 1 family member L1, aldehyde dehydrogenase 1 family, member L1, FDH, FORMYLTETRAHYDROFOLATE DEHYDROGENASE, FTHFD, LOC100047937, N-10 FORMYL TETRAHYDROFOLATE DEHYDROGENASE, Neut2, Thf Dh |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ALDH1L1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Aldehyde dehydrogenase family
- Carboxy-terminal domain of Formyltransferase and similar domains
- formyltetrahydrofolate dehydrogenase
- phosphoribosylglycinamide formyltransferase, formyltetrahydrofolate-dependent
- enzyme
- protein binding
- delta-1-pyrroline-5-carboxylate dehydrogenase (PutA C-terminal domain)
- NAD(P)+-dependent aldehyde dehydrogenase superfamily
- betaine-aldehyde dehydrogenase
- binding protein
- aldehyde dehydrogenase [NAD(P)]
- aldehyde dehydrogenase (NAD)
- methionyl-tRNA formyltransferase
- Formyl transferase, C-terminal domain
- Formyltransferase, catalytic core domain
- delta-1-pyrroline-5-carboxylate dehydrogenase, group 2, putative
Pathways
Biological processes and signaling networks where the ALDH1L1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- neoplasia
- idiopathic scoliosis
- Alzheimer disease
- multiple sclerosis
role in cell
- proliferation
- apoptosis
- accumulation in
- growth
- transmembrane potential
- upregulation in
- AICAr resistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALDH1L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- NADPH regeneration
- 10-formyltetrahydrofolate catabolic process
- biosynthetic process
- one-carbon metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- aldehyde dehydrogenase (NAD) activity
- formyltetrahydrofolate dehydrogenase activity