ALDH1L1: Formyltetrahydrofolate Dehydrogenase
A key enzyme in folate metabolism with roles in cancer and neurological disorders
Gene Information Card
| Symbol | ALDH1L1 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 1 Family Member L1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 10840 ncbi.nlm.nih.gov/gene/10840 |
| Ensembl ID | ENSG00000144908 |
| UniProt ID | O75891 |
| OMIM ID | 600249 |
| HGNC ID | 3978 |
| Aliases | 10-FTHFDH, FDH, FTHFD, FTHFDH |
Description
ALDH1L1 encodes a cytosolic enzyme that catalyzes the conversion of 10-formyltetrahydrofolate to tetrahydrofolate and CO2, playing a critical role in folate metabolism and one-carbon transfer reactions. It is highly expressed in the liver and kidney and is also a marker for astrocytes in the central nervous system. Dysregulation of ALDH1L1 is implicated in various cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression affects folate-dependent nucleotide synthesis and methylation | Multiple studies show downregulation in hepatocellular carcinoma and other tumors (NCBI, COSMIC) |
| Neural tube defects | Potential role in folate metabolism during embryogenesis | OMIM #600249 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 58.2 | High |
| Kidney | 42.1 | High |
| Brain | 15.3 | Medium |
| Lung | 5.8 | Low |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 62.4 | Hepatocellular carcinoma cell line |
| HEK293 | 18.7 | Embryonic kidney cells |
| U87MG | 9.3 | Glioblastoma cell line |
| A549 | 3.5 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Start codon loss (ClinVar) |
| c.104C>T | Nonsense | <0.01% | Premature truncation (COSMIC) |
| c.742G>A | Missense | 0.02% | Reduced enzyme activity (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein with loss of catalytic activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0016155 - formyltetrahydrofolate dehydrogenase activity |
| • GO:0006730 - one-carbon metabolic process | • GO:0005829 - cytosol |
Pathways
• Folate metabolism (Reactome: R-HSA-196757)
• One-carbon metabolism (KEGG: hsa00670)
Protein Summary
ALDH1L1 is a 902-amino acid cytosolic enzyme that contains both aldehyde dehydrogenase and formyltetrahydrofolate dehydrogenase domains. It catalyzes the NADP+-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and CO2, thereby regulating the pool of folate cofactors essential for nucleotide biosynthesis and methylation reactions. The protein is highly expressed in liver and kidney and serves as a specific marker for astrocytes in the brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH1L1 Knockout HEK293 Cell Line | EDJ-KQ7186 | Human | 10840 | Details Get a Quote |
| ALDH1L1 Knockout HeLa Cell Line | EDJ-KQ55496 | Human | 10840 | Details Get a Quote |
| ALDH1L1 Knockout A-549 Cell Line | EDJ-KQ63985 | Human | 10840 | Details Get a Quote |
| ALDH1L1 Knockout HCT 116 Cell Line | EDJ-KQ72436 | Human | 10840 | Details Get a Quote |
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