ALDH5A1 [The Human Chemical-Genetic Interaction Map Project]

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======= ALDH5A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ALDH5A1
  * **<color #00a2e8>Official Name</color>**: aldehyde dehydrogenase 5 family member A1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7915|7915]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P51649|P51649]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ALDH5A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ALDH5A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610045|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). {ECO:0000269|PubMed:19300440}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Aldedh|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|-1.89|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 17506
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.9 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ALDH5A1 Expression in NALM6 Cells: 6.9'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>