ADHFE1
Alcohol Dehydrogenase Iron Containing 1
Gene Information Card
| Symbol | ADHFE1 |
|---|---|
| Full Name | Alcohol Dehydrogenase Iron Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 137872 ncbi.nlm.nih.gov/gene/137872 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q8IWW8 |
| OMIM ID | 611083 |
| HGNC ID | 16256 |
| Aliases | HOT, HMFT2266 |
Description
ADHFE1 encodes a member of the iron-containing alcohol dehydrogenase family. The protein functions as a hydroxyacid-oxoacid transhydrogenase (HOT), catalyzing the conversion of 4-hydroxybutyrate to succinic semialdehyde using 2-oxoglutarate as a co-substrate. This enzyme plays a key role in the metabolism of gamma-hydroxybutyrate (GHB) and is involved in the succinic semialdehyde dehydrogenase (SSADH) pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Succinic semialdehyde dehydrogenase deficiency (SSADHD) | ADHFE1 provides an alternative route for GHB metabolism; altered activity may modulate disease severity. | PMID: 19384922 |
| 4-Hydroxybutyric aciduria | Deficiency in HOT activity leads to accumulation of GHB and 4-hydroxybutyrate. | PMID: 19384922 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Skeletal Muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| SH-SY5Y | 5.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Reduced enzyme activity in vitro |
| c.245C>T | nonsense | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein lead to loss of HOT enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004022 - alcohol dehydrogenase (NAD+) activity | • GO:0004025 - alcohol dehydrogenase (iron-dependent) activity |
| • GO:0051287 - NAD binding | • GO:0005737 - cytoplasm |
| • GO:0009448 - gamma-aminobutyric acid metabolic process |
Pathways
• Gamma-hydroxybutyrate (GHB) degradation
• Succinic semialdehyde dehydrogenase (SSADH) pathway
Protein Summary
The ADHFE1 protein (HOT) is a homodimeric iron-containing alcohol dehydrogenase localized in the cytoplasm. It catalyzes the reversible conversion between 4-hydroxybutyrate and succinic semialdehyde, using 2-oxoglutarate as an electron acceptor. The enzyme is highly expressed in liver and kidney and plays a critical role in GHB metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADHFE1 Knockout HEK293 Cell Line | EDJ-KQ9397 | Human | 137872 | Details Get a Quote |
| ADHFE1 Knockout HCT 116 Cell Line | EDJ-KQ36045 | Human | 137872 | Details Get a Quote |
| ADHFE1 Knockout HeLa Cell Line | EDJ-KQ58379 | Human | 137872 | Details Get a Quote |
| ADHFE1 Knockout A-549 Cell Line | EDJ-KQ66867 | Human | 137872 | Details Get a Quote |
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