ALDH7A1
Summary: The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| aldehyde dehydrogenase 7 family member A1 | MIM:107323 | Ensembl:ENSG00000164904 | HGNC:HGNC:877 | PA24704 | 5q23.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in ALDH7A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ISS | GO:0006081 | cellular aldehyde metabolic process |
| BP | TAS | GO:0006554 | lysine catabolic process |
| BP | TAS | GO:0007605 | sensory perception of sound |
| BP | IEA | GO:0019285 | glycine betaine biosynthetic process from choline |
| BP | TAS | GO:0042426 | choline catabolic process |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| CC | IEA | GO:0005634 | nucleus |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005759 | mitochondrial matrix |
| CC | IDA | GO:0005829 | cytosol |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | ISS | GO:0004029 | aldehyde dehydrogenase (NAD) activity |
| MF | EXP | GO:0004043 | L-aminoadipate-semialdehyde dehydrogenase activity |
| MF | IBA | GO:0004043 | L-aminoadipate-semialdehyde dehydrogenase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0008802 | betaine-aldehyde dehydrogenase activity |
| MF | IBA | GO:0016620 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor |
| MF | IEA | GO:0043878 | glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity |
Gene expression in normal tissue: ALDH7A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALDH7A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-6788656 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism |
| reactome | R-HSA-6798163 | Choline catabolism |
| reactome | R-HSA-71064 | Lysine catabolism |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| kegg | hsa00010 | Glycolysis / Gluconeogenesis - Homo sapiens (human) |
| kegg | hsa00053 | Ascorbate and aldarate metabolism - Homo sapiens (human) |
| kegg | hsa00071 | Fatty acid degradation - Homo sapiens (human) |
| kegg | hsa00260 | Glycine, serine and threonine metabolism - Homo sapiens (human) |
| kegg | hsa00280 | Valine, leucine and isoleucine degradation - Homo sapiens (human) |
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| kegg | hsa00330 | Arginine and proline metabolism - Homo sapiens (human) |
| kegg | hsa00340 | Histidine metabolism - Homo sapiens (human) |
| kegg | hsa00380 | Tryptophan metabolism - Homo sapiens (human) |
| kegg | hsa00410 | beta-Alanine metabolism - Homo sapiens (human) |
| kegg | hsa00561 | Glycerolipid metabolism - Homo sapiens (human) |
| kegg | hsa00620 | Pyruvate metabolism - Homo sapiens (human) |
| humancyc | CHOLINE-BETAINE-ANA-PWY | choline degradation |
| humancyc | LYSINE-DEG1-PWY | lysine degradation I (saccharopine pathway) |
| humancyc | PWY66-414 | superpathway of choline degradation to L-serine |
| humancyc | PWY66-425 | lysine degradation II (pipecolate pathway) |
| wikipathways | WP3925 | Amino Acid metabolism |
| wikipathways | WP4228 | Vitamin B6-dependent and responsive disorders |
| smpdb | SMP00037 | Lysine Degradation |
| smpdb | SMP00123 | Betaine Metabolism |
| smpdb | SMP00186 | Glutaric Aciduria Type I |
| smpdb | SMP00239 | Saccharopinuria/Hyperlysinemia II |
| smpdb | SMP00527 | Hyperlysinemia I, Familial |
| smpdb | SMP00528 | Hyperlysinemia II or Saccharopinuria |
| smpdb | SMP00571 | Pyridoxine dependency with seizures |
| smpdb | SMP00719 | 2-aminoadipic 2-oxoadipic aciduria |
| smpdb | SMP02313 | sarcosine oncometabolite pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD187 | BRD9876 | 3 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD888 | Compound 44 | 6 |
| iGMDRD188 | Piperlongumine | 5 |
| iGMDRD451 | Serdemetan | 1 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD505 | Pevonedistat | 6 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD150 | RITA | 6 |
| iGMDRD85 | Ursolic acid | 6 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD679 | Bistramide A | 1 |
| iGMDRD297 | Austocystin D | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALDH7A1
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