Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= ALDH4A1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: ALDH4A1 * **<color #00a2e8>Official Name</color>**: aldehyde dehydrogenase 4 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=8659|8659]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P30038|P30038]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ALDH4A1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ALDH4A1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606811|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]. * **<color #00a2e8>UniProt Summary</color>**: N/A <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'> |1-pyrroline-5-carboxylate dehydrogenase activity| |proline catabolic process to glutamate| |proline catabolic process| |4-hydroxyproline catabolic process| |glyoxylate metabolic process| |proline metabolic process| |aldehyde dehydrogenase (NAD) activity| |4-hydroxyproline metabolic process| |glutamine family amino acid catabolic process| |cellular modified amino acid catabolic process| |glutamate metabolic process| |cellular aldehyde metabolic process| |glutamine family amino acid metabolic process| |electron transfer activity| |dicarboxylic acid metabolic process| |alpha-amino acid catabolic process| |cellular amino acid catabolic process| |electron transport chain| |cellular modified amino acid metabolic process| |alpha-amino acid metabolic process| |organic acid catabolic process| |carboxylic acid catabolic process| |cellular amino acid metabolic process| |mitochondrial matrix| |generation of precursor metabolites and energy| |heterocycle catabolic process| |small molecule catabolic process| |organic cyclic compound catabolic process| |monocarboxylic acid metabolic process| |carboxylic acid metabolic process| |oxidation-reduction process| |oxoacid metabolic process| |organic acid metabolic process| |organonitrogen compound catabolic process| |identical protein binding| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| </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:exp320|ABT-702 5μM plus CoCl2 18μM R07 exp320]]|-2.36| |[[:results:exp130|JQ1 0.01μM R03 exp130]]|-2.01| |[[:results:exp102|Nifuroxazide 5μM R03 exp102]]|-1.99| </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>**: 15084 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.15 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='ALDH4A1 Expression in NALM6 Cells: 6.15'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1