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Ask your administrator if you think this is wrong. ======= GLUD1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: GLUD1 * **<color #00a2e8>Official Name</color>**: glutamate dehydrogenase 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2746|2746]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P00367|P00367]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GLUD1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GLUD1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/138130|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]. * **<color #00a2e8>UniProt Summary</color>**: Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). {ECO:0000250}. <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'> |ELFV dehydrog N| |ELFV dehydrog| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |glutamate dehydrogenase (NAD+) activity| |glutamate dehydrogenase [NAD(P)+] activity| |glutamate biosynthetic process| |leucine binding| |glutamate catabolic process| |tricarboxylic acid metabolic process| |dicarboxylic acid biosynthetic process| |NAD+ binding| |dicarboxylic acid catabolic process| |glutamine family amino acid biosynthetic process| |glutamine metabolic process| |glutamine family amino acid catabolic process| |glutamate metabolic process| |ADP binding| |substantia nigra development| |neural nucleus development| |alpha-amino acid biosynthetic process| |glutamine family amino acid metabolic process| |positive regulation of insulin secretion| |cellular amino acid biosynthetic process| |midbrain development| |positive regulation of peptide hormone secretion| |dicarboxylic acid metabolic process| |alpha-amino acid catabolic process| |cellular amino acid catabolic process| |positive regulation of hormone secretion| |regulation of insulin secretion| |regulation of peptide hormone secretion| |alpha-amino acid metabolic process| |carboxylic acid catabolic process| |organic acid catabolic process| |regulation of hormone secretion| |positive regulation of protein secretion| |positive regulation of peptide secretion| |carboxylic acid biosynthetic process| |organic acid biosynthetic process| |cellular amino acid metabolic process| |mitochondrial matrix| |GTP binding| |positive regulation of secretion by cell| |positive regulation of protein transport| |positive regulation of secretion| |small molecule catabolic process| |positive regulation of establishment of protein localization| |regulation of protein secretion| |regulation of peptide secretion| |regulation of hormone levels| |small molecule biosynthetic process| |regulation of protein transport| |regulation of peptide transport| |brain development| |regulation of establishment of protein localization| |regulation of secretion by cell| |head development| |regulation of secretion| |carboxylic acid metabolic process| |oxidation-reduction process| |central nervous system development| |positive regulation of transport| |oxoacid metabolic process| |organic acid metabolic process| |regulation of protein localization| |organonitrogen compound catabolic process| |identical protein binding| |mitochondrion| |organonitrogen compound biosynthetic process| |ATP binding| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| |positive regulation of cell communication| |positive regulation of signaling| |regulation of transport| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' 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'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:r:rrm1|RRM1]]|0.546| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/726 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/25| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/15| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/14| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/7| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 10213 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.86 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='GLUD1 Expression in NALM6 Cells: 6.86'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1