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Ask your administrator if you think this is wrong. ======= OTC ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: OTC * **<color #00a2e8>Official Name</color>**: ornithine carbamoyltransferase * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5009|5009]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P00480|P00480]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=OTC&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20OTC|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300461|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]. * **<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'> |OTCace| |OTCace N| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |ornithine carbamoyltransferase activity| |ornithine catabolic process| |response to biotin| |ammonia homeostasis| |arginine biosynthetic process via ornithine| |citrulline biosynthetic process| |arginine biosynthetic process| |citrulline metabolic process| |ornithine metabolic process| |urea cycle| |urea metabolic process| |phosphate ion binding| |nitrogen cycle metabolic process| |midgut development| |arginine metabolic process| |amino acid binding| |glutamine family amino acid biosynthetic process| |protein homotrimerization| |protein trimerization| |response to zinc ion| |anion homeostasis| |alpha-amino acid biosynthetic process| |glutamine family amino acid metabolic process| |cellular amino acid biosynthetic process| |response to vitamin| |phospholipid binding| |alpha-amino acid catabolic process| |cellular amino acid catabolic process| |liver development| |hepaticobiliary system development| |digestive tract development| |digestive system development| |alpha-amino acid metabolic process| |response to nutrient| |response to insulin| |carboxylic acid catabolic process| |organic acid catabolic process| |carboxylic acid biosynthetic process| |organic acid biosynthetic process| |cellular amino acid metabolic process| |protein homooligomerization| |response to acid chemical| |mitochondrial matrix| |response to metal ion| |response to peptide hormone| |mitochondrial inner membrane| |gland development| |small molecule catabolic process| |response to peptide| |response to nutrient levels| |protein complex oligomerization| |amide biosynthetic process| |response to extracellular stimulus| |response to inorganic substance| |small molecule biosynthetic process| |ion homeostasis| |cellular amide metabolic process| |tube development| |carboxylic acid metabolic process| |response to hormone| |response to organic cyclic compound| |response to organonitrogen compound| |oxoacid metabolic process| |response to drug| |organic acid metabolic process| |organonitrogen compound catabolic process| |response to nitrogen compound| |chemical homeostasis| |mitochondrion| |organonitrogen compound biosynthetic process| |response to endogenous stimulus| |response to oxygen-containing compound| |protein-containing complex assembly| |cellular nitrogen compound biosynthetic process| |homeostatic process| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| |protein-containing complex subunit organization| </modal> \\ === CRISPR Data === <button type='default' 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'> No hits were found. </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: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 17596 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -7.68 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='OTC Expression in NALM6 Cells: -7.68'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1