ALDH5A1
Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| aldehyde dehydrogenase 5 family member A1 | MIM:610045 | Ensembl:ENSG00000112294 | HGNC:HGNC:408 | PA24702 | 6p22.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in ALDH5A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | HDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | ISS | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005759 | mitochondrial matrix |
| BP | ISS | GO:0006006 | glucose metabolic process |
| BP | ISS | GO:0006083 | acetate metabolic process |
| BP | ISS | GO:0006105 | succinate metabolic process |
| BP | ISS | GO:0006536 | glutamate metabolic process |
| BP | ISS | GO:0006541 | glutamine metabolic process |
| BP | ISS | GO:0006650 | glycerophospholipid metabolic process |
| BP | IEA | GO:0006678 | glucosylceramide metabolic process |
| BP | ISS | GO:0006681 | galactosylceramide metabolic process |
| BP | ISS | GO:0006749 | glutathione metabolic process |
| BP | IMP | GO:0007417 | central nervous system development |
| BP | IDA | GO:0009450 | gamma-aminobutyric acid catabolic process |
| BP | IEA | GO:0009450 | gamma-aminobutyric acid catabolic process |
| BP | IMP | GO:0009450 | gamma-aminobutyric acid catabolic process |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | ISS | GO:0022904 | respiratory electron transport chain |
| BP | ISS | GO:0042135 | neurotransmitter catabolic process |
| BP | ISS | GO:0046459 | short-chain fatty acid metabolic process |
| BP | IDA | GO:0051289 | protein homotetramerization |
| MF | IBA | GO:0004777 | succinate-semialdehyde dehydrogenase (NAD+) activity |
| MF | IDA | GO:0004777 | succinate-semialdehyde dehydrogenase (NAD+) activity |
| MF | ISS | GO:0004777 | succinate-semialdehyde dehydrogenase (NAD+) activity |
| MF | TAS | GO:0004777 | succinate-semialdehyde dehydrogenase (NAD+) activity |
| MF | IBA | GO:0009013 | succinate-semialdehyde dehydrogenase [NAD(P)+] activity |
| MF | IEA | GO:0009013 | succinate-semialdehyde dehydrogenase [NAD(P)+] activity |
| MF | IC | GO:0042803 | protein homodimerization activity |
Gene expression in normal tissue: ALDH5A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALDH5A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112310 | Neurotransmitter release cycle |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-888590 | GABA synthesis, release, reuptake and degradation |
| reactome | R-HSA-916853 | Degradation of GABA |
| kegg | hsa00250 | Alanine, aspartate and glutamate metabolism - Homo sapiens (human) |
| kegg | hsa00650 | Butanoate metabolism - Homo sapiens (human) |
| pharmgkb | PA165959313 | Valproic Acid Pathway, Pharmacodynamics |
| pharmgkb | PA165964473 | Pathway_PA165964473 |
| pharmgkb | PA2035 | Cyclophosphamide Pathway, Pharmacodynamics |
| humancyc | GLUDEG-I-PWY | GABA shunt |
| humancyc | PWY-6535 | 4-aminobutyrate degradation |
| smpdb | SMP00072 | Glutamate Metabolism |
| smpdb | SMP00136 | 2-Hydroxyglutric Aciduria (D And L Form) |
| smpdb | SMP00243 | 4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency |
| smpdb | SMP00339 | Hyperinsulinism-Hyperammonemia Syndrome |
| smpdb | SMP00385 | Homocarnosinosis |
| smpdb | SMP00567 | Succinic semialdehyde dehydrogenase deficiency |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALDH5A1
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