======= ALDH5A1 ======= == Gene Information == * **Official Symbol**: ALDH5A1 * **Official Name**: aldehyde dehydrogenase 5 family member A1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7915|7915]] * **UniProt**: [[https://www.uniprot.org/uniprot/P51649|P51649]] * **Interactions**: [[https://thebiogrid.org/search.php?search=ALDH5A1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ALDH5A1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/610045|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). {ECO:0000269|PubMed:19300440}. |Aldedh| |succinate-semialdehyde dehydrogenase (NAD+) activity| |succinate-semialdehyde dehydrogenase [NAD(P)+] activity| |gamma-aminobutyric acid catabolic process| |acetate metabolic process| |gamma-aminobutyric acid metabolic process| |glucosylceramide metabolic process| |succinate metabolic process| |galactosylceramide metabolic process| |galactolipid metabolic process| |glycosylceramide metabolic process| |short-chain fatty acid metabolic process| |neurotransmitter catabolic process| |glutamine metabolic process| |glutamate metabolic process| |glutathione metabolic process| |glycosphingolipid metabolic process| |glutamine family amino acid metabolic process| |ceramide metabolic process| |post-embryonic development| |neurotransmitter metabolic process| |protein homotetramerization| |dicarboxylic acid metabolic process| |antibiotic metabolic process| |glycolipid metabolic process| |liposaccharide metabolic process| |respiratory electron transport chain| |glucose metabolic process| |monocarboxylic acid catabolic process| |cellular amino acid catabolic process| |protein tetramerization| |sphingolipid metabolic process| |hexose metabolic process| |cellular respiration| |electron transport chain| |cellular modified amino acid metabolic process| |monosaccharide metabolic process| |membrane lipid metabolic process| |alpha-amino acid metabolic process| |energy derivation by oxidation of organic compounds| |carboxylic acid catabolic process| |organic acid catabolic process| |glycerophospholipid metabolic process| |cellular amino acid metabolic process| |fatty acid metabolic process| |protein homooligomerization| |regulation of neurotransmitter levels| |sulfur compound metabolic process| |mitochondrial matrix| |phospholipid metabolic process| |glycerolipid metabolic process| |generation of precursor metabolites and energy| |small molecule catabolic process| |cofactor metabolic process| |carbohydrate metabolic process| |drug metabolic process| |protein complex oligomerization| |peptide metabolic process| |monocarboxylic acid metabolic process| |cellular amide metabolic process| |protein homodimerization activity| |organophosphate metabolic process| |carboxylic acid metabolic process| |cellular lipid metabolic process| |oxidation-reduction process| |central nervous system development| |oxoacid metabolic process| |organic acid metabolic process| |carbohydrate derivative metabolic process| |organonitrogen compound catabolic process| |lipid metabolic process| |mitochondrion| |protein-containing complex assembly| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| |protein-containing complex subunit organization| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|-1.89| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 17506 * **Expression level (log2 read counts)**: 6.9 {{:chemogenomics:nalm6 dist.png?nolink |}}