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Ask your administrator if you think this is wrong. ======= CPS1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: CPS1 * **<color #00a2e8>Official Name</color>**: carbamoyl-phosphate synthase 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1373|1373]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P31327|P31327]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CPS1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CPS1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608307|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]. * **<color #00a2e8>UniProt Summary</color>**: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. <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'> |Dala Dala lig C| |MGS| |CPSase L D2| |ATP-grasp| |CPSase sm chain| |CPSase L chain| |GATase| |CPSase L D3| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |carbamoyl phosphate metabolic process| |carbamoyl-phosphate synthase (ammonia) activity| |cellular response to ammonia| |response to ammonia| |carbamoyl phosphate biosynthetic process| |carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity| |cellular response to oleic acid| |citrulline biosynthetic process| |arginine biosynthetic process| |de novo pyrimidine nucleobase biosynthetic process| |response to oleic acid| |modified amino acid binding| |citrulline metabolic process| |pyrimidine nucleobase biosynthetic process| |glutamate binding| |urea cycle| |homocysteine metabolic process| |urea metabolic process| |midgut development| |nitrogen cycle metabolic process| |hepatocyte differentiation| |arginine metabolic process| |nitric oxide metabolic process| |glutamine family amino acid biosynthetic process| |nucleobase biosynthetic process| |reactive nitrogen species metabolic process| |response to food| |pyrimidine nucleobase metabolic process| |glutamine metabolic process| |cellular response to glucagon stimulus| |triglyceride catabolic process| |vasodilation| |response to growth hormone| |acylglycerol catabolic process| |neutral lipid catabolic process| |response to glucagon| |response to dexamethasone| |sulfur amino acid metabolic process| |mitochondrial nucleoid| |nucleobase metabolic process| |response to amine| |glycerolipid catabolic process| |cellular response to cAMP| |response to zinc ion| |cellular response to fatty acid| |pyrimidine-containing compound biosynthetic process| |positive regulation of blood vessel diameter| |anion homeostasis| |alpha-amino acid biosynthetic process| |glutamine family amino acid metabolic process| |triglyceride metabolic process| |endopeptidase activity| |cellular amino acid biosynthetic process| |response to fatty acid| |neurotransmitter metabolic process| |response to antineoplastic agent| |response to cAMP| |acylglycerol metabolic process| |neutral lipid metabolic process| |phospholipid binding| |pyrimidine-containing compound metabolic process| |cellular response to fibroblast growth factor stimulus| |reactive oxygen species metabolic process| |response to amino acid| |response to fibroblast growth factor| |liver development| |hepaticobiliary system development| |digestive tract development| |response to organophosphorus| |regulation of tube diameter| |regulation of blood vessel diameter| |regulation of tube size| |digestive system development| |response to glucocorticoid| |response to purine-containing compound| |response to corticosteroid| |vascular process in circulatory system| |response to starvation| |response to ketone| |cellular lipid catabolic process| |cellular response to acid chemical| |alpha-amino acid metabolic process| |cellular response to toxic substance| |cellular response to peptide hormone stimulus| |protein-containing complex binding| |lipid catabolic process| |response to xenobiotic stimulus| |carboxylic acid biosynthetic process| |organic acid biosynthetic process| |cellular amino acid metabolic process| |response to lipopolysaccharide| |response to molecule of bacterial origin| |cellular response to peptide| |response to steroid hormone| |response to acid chemical| |regulation of neurotransmitter levels| |sulfur compound metabolic process| |mitochondrial matrix| |response to metal ion| |glycerolipid metabolic process| |blood circulation| |response to peptide hormone| |circulatory system process| |mitochondrial inner membrane| |gland development| |response to peptide| |response to nutrient levels| |drug metabolic process| |cellular response to growth factor stimulus| |response to toxic substance| |regulation of anatomical structure size| |cellular response to lipid| |amide biosynthetic process| |response to extracellular stimulus| |response to growth factor| |response to inorganic substance| |organophosphate biosynthetic process| |nucleobase-containing small molecule metabolic process| |cellular response to organic cyclic compound| |small molecule biosynthetic process| |protein-containing complex| |cellular response to organonitrogen compound| |cellular response to hormone stimulus| |cellular response to nitrogen compound| |epithelial cell differentiation| |response to bacterium| |calcium ion binding| |cellular amide metabolic process| |ion homeostasis| |tube development| |response to lipid| |nucleolus| |organophosphate metabolic process| |response to hormone| |carboxylic acid metabolic process| |response to organic cyclic compound| |cellular lipid metabolic process| |response to organonitrogen compound| |oxoacid metabolic process| |response to drug| |organic acid metabolic process| |cellular response to oxygen-containing compound| |response to nitrogen compound| |chemical homeostasis| |epithelium development| |heterocycle biosynthetic process| |lipid metabolic process| |cellular response to endogenous stimulus| |proteolysis| |response to other organism| |organic cyclic compound biosynthetic process| |response to external biotic stimulus| |response to biotic stimulus| |organonitrogen compound biosynthetic process| |response to endogenous stimulus| |ATP binding| |response to oxygen-containing compound| |cellular nitrogen compound biosynthetic process| |homeostatic process| |small molecule metabolic process| |tissue development| |organic substance catabolic process| |cellular catabolic process| |system 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:exp210|LB-100 2μM R05 exp210]]|-1.85| </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>**: 15413 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.84 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='CPS1 Expression in NALM6 Cells: 5.84'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1