Name | carbamoyl-phosphate synthase 1, mitochondrial |
Description | 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] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Carbamoyl phosphate synthetase 1 (CPS1) is a mitochondrial, rate‐limiting enzyme of the urea cycle that catalyzes the conversion of ammonia and bicarbonate into carbamoyl phosphate—thereby playing a central role in ammonia detoxification and nitrogen homeostasis. Several studies have highlighted that CPS1 activity is tightly regulated by post‐translational modifications. For example, CPS1 undergoes lysine succinylation, malonylation, and glutarylation that suppress its enzymatic function; these modifications are efficiently reversed by SIRT5‐mediated deacylation, thereby modulating urea cycle flux in response to metabolic cues."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its enzymatic role, genetic studies have linked CPS1 to broader aspects of metabolic regulation. Variants in the CPS1 gene have been associated with alterations in plasma glycine and urea cycle metabolite levels, as well as changes in homocysteine metabolism that influence cardiovascular risk."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": " Moreover, perturbations in CPS1 expression and activity—resulting from genetic mutations or altered post‐translational modifications—can lead to hyperammonemia and are central to the pathology of CPS1 deficiency.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its core metabolic function, CPS1 expression is differentially regulated in disease contexts. Its upregulation or loss has been reported in various cancers and liver diseases, suggesting that CPS1 may serve as a potential biomarker for disease progression and tissue damage."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "9"}]}, {"type": "t", "text": " Furthermore, oxidative modifications such as tyrosine nitration have been shown to impair CPS1 function, linking mitochondrial oxidative stress to defective ammonia clearance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, emerging evidence suggests that CPS1—and the pathways in which it participates—may impact whole‐body metabolic health, including weight loss maintenance, while its dysregulation can contribute to adverse drug effects such as valproate‐induced hyperammonemia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Collectively, these findings underscore the multifaceted role of CPS1 in metabolic homeostasis, its dynamic regulation by post‐translational modifications and genetic variants, and its clinical relevance as both a marker and mediator of metabolic and liver diseases.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jintang Du, Yeyun Zhou, Xiaoyang Su, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sirt5 is a NAD-dependent protein lysine demalonylase and desuccinylase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1207861"}], "href": "https://doi.org/10.1126/science.1207861"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22076378"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22076378"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Minjia Tan, Chao Peng, Kristin A Anderson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lysine glutarylation is a protein posttranslational modification regulated by SIRT5."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2014.03.014"}], "href": "https://doi.org/10.1016/j.cmet.2014.03.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24703693"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24703693"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jiujiu Yu, Sushabhan Sadhukhan, Lilia G Noriega, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Metabolic characterization of a Sirt5 deficient mouse model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep02806"}], "href": "https://doi.org/10.1038/srep02806"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24076663"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24076663"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jaana A Hartiala, W H Wilson Tang, Zeneng Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms10558"}], "href": "https://doi.org/10.1038/ncomms10558"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26822151"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26822151"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Guillaume Paré, Daniel I Chasman, Alexander N Parker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Cardiovasc Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCGENETICS.108.829804"}], "href": "https://doi.org/10.1161/CIRCGENETICS.108.829804"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20031578"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20031578"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Johannes Häberle, Oleg A Shchelochkov, Jing Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21406"}], "href": "https://doi.org/10.1002/humu.21406"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21120950"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21120950"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Sen-Lin Ma, Ai-Jun Li, Zhao-Yang Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Co‑expression of the carbamoyl‑phosphate synthase 1 gene and its long non‑coding RNA correlates with poor prognosis of patients with intrahepatic cholangiocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2015.4435"}], "href": "https://doi.org/10.3892/mmr.2015.4435"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26499888"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26499888"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Diana M Cardona, Xiaokui Zhang, Chen Liu "}, {"type": "b", "children": [{"type": "t", "text": "Loss of carbamoyl phosphate synthetase I in small-intestinal adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Clin Pathol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1309/AJCP74XGRFWTFLJU"}], "href": "https://doi.org/10.1309/AJCP74XGRFWTFLJU"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19926579"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19926579"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Saima Ajaz, Mark J McPhail, Luigi Gnudi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial dysfunction as a mechanistic biomarker in patients with non-alcoholic fatty liver disease (NAFLD)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mitochondrion (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mito.2020.12.010"}], "href": "https://doi.org/10.1016/j.mito.2020.12.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33387664"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33387664"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hideo Takakusa, Isaac Mohar, Terrance J Kavanagh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Protein tyrosine nitration of mitochondrial carbamoyl phosphate synthetase 1 and its functional consequences."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2012.02.114"}], "href": "https://doi.org/10.1016/j.bbrc.2012.02.114"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22402285"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22402285"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Alice Matone, Marie-Pier Scott-Boyer, Jerome Carayol, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Network Analysis of Metabolite GWAS Hits: Implication of CPS1 and the Urea Cycle in Weight Maintenance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0150495"}], "href": "https://doi.org/10.1371/journal.pone.0150495"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26938218"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26938218"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Kazuyuki Inoue, Eri Suzuki, Toshiki Takahashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "4217C>A polymorphism in carbamoyl-phosphate synthase 1 gene may not associate with hyperammonemia development during valproic acid-based therapy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsy Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.eplepsyres.2014.04.008"}], "href": "https://doi.org/10.1016/j.eplepsyres.2014.04.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24888247"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24888247"}]}]}]}
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Synonyms | PHN, CPSASE1 |
Proteins | CPSM_HUMAN |
NCBI Gene ID | 1373 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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CPS1 has 7,863 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 116 datasets.
Click the + buttons to view associations for CPS1 from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
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Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of CPS1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of CPS1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of CPS1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of CPS1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of CPS1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of CPS1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of CPS1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of CPS1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of CPS1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of CPS1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Proteomics | Cell lines associated with CPS1 protein from the CCLE Cell Line Proteomics dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of CPS1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of CPS1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of CPS1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
ClinVar Gene-Phenotype Associations | phenotypes associated with CPS1 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of CPS1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing CPS1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing CPS1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with CPS1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of CPS1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with CPS1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with CPS1 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with CPS1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
dbGAP Gene-Trait Associations | traits associated with CPS1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of CPS1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by CPS1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving CPS1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores | diseases associated with CPS1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with CPS1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with CPS1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with CPS1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with CPS1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with CPS1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
DrugBank Drug Targets | interacting drugs for CPS1 protein from the curated DrugBank Drug Targets dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at CPS1 gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of CPS1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of CPS1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing CPS1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with CPS1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with CPS1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of CPS1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with CPS1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing CPS1 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of CPS1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of CPS1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of CPS1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of CPS1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of CPS1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of CPS1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving CPS1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving CPS1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing CPS1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing CPS1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by CPS1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by CPS1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of CPS1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of CPS1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of CPS1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of CPS1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
GWAS Catalog SNP-Phenotype Associations | phenotypes associated with CPS1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
GWASdb SNP-Disease Associations | diseases associated with CPS1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with CPS1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of CPS1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HMDB Metabolites of Enzymes | interacting metabolites for CPS1 protein from the curated HMDB Metabolites of Enzymes dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of CPS1 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of CPS1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of CPS1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with CPS1 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
Hub Proteins Protein-Protein Interactions | interacting hub proteins for CPS1 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
HuBMAP Azimuth Cell Type Annotations | cell types associated with CPS1 gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with CPS1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
HumanCyc Pathways | pathways involving CPS1 protein from the HumanCyc Pathways dataset. | |
IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by CPS1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for CPS1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of CPS1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
KEGG Pathways | pathways involving CPS1 protein from the KEGG Pathways dataset. | |
Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate CPS1 protein from the Kinase Library Serine Threonine Atlas dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of CPS1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of CPS1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with CPS1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of CPS1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of CPS1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of CPS1 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of CPS1 gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain CPS1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by CPS1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting CPS1 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of CPS1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of CPS1 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by CPS1 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Cancer Gene Co-expression Modules | co-expressed genes for CPS1 from the MSigDB Cancer Gene Co-expression Modules dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of CPS1 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
MW Enzyme Metabolite Associations | interacting metabolites for CPS1 protein from the MW Gene Metabolite Associations dataset. | |
NURSA Protein Complexes | protein complexs containing CPS1 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
NURSA Protein-Protein Interactions | interacting proteins for CPS1 from the NURSA Protein-Protein Interactions dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with CPS1 gene from the curated OMIM Gene-Disease Associations dataset. | |
PANTHER Pathways | pathways involving CPS1 protein from the PANTHER Pathways dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for CPS1 from the Pathway Commons Protein-Protein Interactions dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving CPS1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving CPS1 protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways 2014 | pathways involving CPS1 protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving CPS1 protein from the Reactome Pathways 2024 dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of CPS1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at CPS1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of CPS1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of CPS1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with CPS1 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of CPS1 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of CPS1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of CPS1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of CPS1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of CPS1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of CPS1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with CPS1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
WikiPathways Pathways 2014 | pathways involving CPS1 protein from the Wikipathways Pathways 2014 dataset. | |
WikiPathways Pathways 2024 | pathways involving CPS1 protein from the WikiPathways Pathways 2024 dataset. | |