{ "uniprot_canonical_ac": "P00966-1", "uniprot_ac": "P00966", "uniprot_id": "ASSY_HUMAN", "mass": { "chemical_mass": 46530.0, "monoisotopic_mass": 46530.0 }, "refseq": { "ac": "NP_000041", "name": "argininosuccinate synthase", "summary": "The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041" }, "gene_names": [ { "name": "ASS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00966", "id": "P00966" }, { "name": "ASS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041", "id": "NP_000041" }, { "name": "ASS; CTLN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041", "id": "NP_000041" }, { "name": "ASS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00966", "id": "P00966" } ], "protein_names": [ { "name": "Argininosuccinate synthase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00966" }, { "name": "6.3.4.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00966" }, { "name": "Citrulline--aspartate ligase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00966" }, { "name": "argininosuccinate synthase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041", "id": "NP_000041" }, { "name": "argininosuccinate synthetase 1; citrulline-aspartate ligase; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041", "id": "NP_000041" } ], "function": [ { "annotation": "A survey of the correlation between mutations in the ASS1 gene and the respective clinical courses of citrullinemia type I as described so far (Review) Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041" }, { "database": "PubMed", "id": "19006241", "url": "https://glygen.org/publication/PubMed/19006241" } ] }, { "annotation": "Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.", "evidence": [ { "database": "RefSeq", "id": "NP_000041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041" }, { "database": "PubMed", "id": "36680390", "url": "https://glygen.org/publication/PubMed/36680390" } ] }, { "annotation": "Downregulation of argininosuccinate synthase 1 (ASS1) is associated with hypoxia in placental development.", "evidence": [ { "database": "RefSeq", "id": "NP_000041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041" }, { "database": "PubMed", "id": "36995581", "url": "https://glygen.org/publication/PubMed/36995581" } ] }, { "annotation": "One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966#function" }, { "database": "PubMed", "id": "18473344", "url": "https://glygen.org/publication/PubMed/18473344" }, { "database": "PubMed", "id": "27287393", "url": "https://glygen.org/publication/PubMed/27287393" }, { "database": "PubMed", "id": "8792870", "url": "https://glygen.org/publication/PubMed/8792870" } ] }, { "annotation": "Polymorphic Variants of ASS1 Gene Related to Arginine Metabolism and the Risk of HCC.", "evidence": [ { "database": "RefSeq", "id": "NP_000041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041" }, { "database": "PubMed", "id": "37254538", "url": "https://glygen.org/publication/PubMed/37254538" } ] }, { "annotation": "The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_000041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041" } ] }, { "annotation": "[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].", "evidence": [ { "database": "RefSeq", "id": "NP_000041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041" }, { "database": "PubMed", "id": "37906139", "url": "https://glygen.org/publication/PubMed/37906139" } ] } ], "disease": [ { "disease_id": "DOID:0070340", "recommended_name": { "id": "DOID:0070340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070340", "name": "classic citrullinemia", "description": "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34." }, "synonyms": [ { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "citrullinemia type I", "description": "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)." }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "citrullinemia", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "ASS deficiency", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "CTLN1", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "argininosuccinate synthase deficiency", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "argininosuccinate synthetase deficiency", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "argininosuccinic acid synthase deficiency", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "argininosuccinic acid synthetase deficiency", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "citrullinemia type 1", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "citrullinemia type I", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "classic citrullinemia", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "CTNL1", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "Citrullinuria", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "citrullinemia 1", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "citrullinemia, classic", "description": "" }, { "id": "MONDO:0008988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008988", "name": "citrullinemia, type 1", "description": "" }, { "id": "MIM:215700", "resource": "MIM", "url": "https://www.omim.org/entry/215700", "name": "Citrullinemia 1", "description": "Citrullinemia 1" } ], "evidence": [ { "id": "215700", "database": "MIM", "url": "https://www.omim.org/entry/215700" } ] } ], "snv": [ { "evidence": [ { "id": "P00966", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00966" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 240, "end_pos": 240, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "9", "chr_pos": "130479745", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D240", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P00966", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00966" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 243, "end_pos": 243, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->N).", "chr_id": "9", "chr_pos": "130479755", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T243", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer 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"description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of 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}, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1021193921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1021193921" }, { "id": "rs1021193921", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1021193921#frequency_tab" }, { "id": "rs1021193921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1021193921" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 395, "end_pos": 395, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "9", "chr_pos": "130499561", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758336855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758336855" }, { "id": "rs758336855", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758336855" }, { "id": "rs758336855", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758336855#frequency_tab" }, { "id": "rs758336855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758336855" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 408, "end_pos": 408, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "9", "chr_pos": "130501006", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K408", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 165, "end_pos": 165, "sequence_org": "K", "sequence_mut": "Q", "comment": "Significant loss of acetylation but no decrease in enzyme activity; when associated with Q-176 or R-176.", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "PubMed", "id": "28985504", "url": "https://glygen.org/publication/PubMed/28985504" } ] }, { "start_pos": 165, "end_pos": 165, "sequence_org": "K", "sequence_mut": "R", "comment": "Significant loss of acetylation but no decrease in enzyme activity; when associated with Q-176 or R-176.", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "PubMed", "id": "28985504", "url": "https://glygen.org/publication/PubMed/28985504" } ] }, { "start_pos": 176, "end_pos": 176, "sequence_org": "K", "sequence_mut": "Q", "comment": "Significant loss of acetylation but no decrease in enzyme activity; when associated with Q-165 or R-165.", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "PubMed", "id": "28985504", "url": "https://glygen.org/publication/PubMed/28985504" } ] }, { "start_pos": 176, "end_pos": 176, "sequence_org": "K", "sequence_mut": "R", "comment": "Significant loss of acetylation but no decrease in enzyme activity; when associated with Q-165 or R-165.", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "PubMed", "id": "28985504", "url": "https://glygen.org/publication/PubMed/28985504" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130707" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130707" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130707" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130707" } ] }, { "tissue": { "name": "Esophagus", 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"residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00966", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00966" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser92" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.", "journal": "Nature genetics", "date": "1999", "authors": "Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "10369256", "url": "https://glygen.org/publication/PubMed/10369256" } ] }, { "title": "Human ornithine transcarbamylase: crystallographic insights into substrate recognition and conformational changes.", "journal": "The Biochemical journal", "date": "2001", "authors": "Shi D, Morizono H, Yu X, Tong L, Allewell NM, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "11237854", "url": "https://glygen.org/publication/PubMed/11237854" } ] }, { "title": "Phenotype and genotype heterogeneity in Mediterranean citrullinemia.", "journal": "Molecular genetics and metabolism", "date": "2001", "authors": "Vilaseca MA, Kobayashi K, Briones P, Lambruschini N, Campistol J, Tabata A, Alomar A, Rodes M, Lluch M, Saheki T", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "11708871", "url": "https://glygen.org/publication/PubMed/11708871" } ] }, { "title": "Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.", "journal": "Human genetics", "date": "2002", "authors": "Haberle J, Pauli S, Linnebank M, Kleijer WJ, Bakker HD, Wanders RJ, Harms E, Koch HG", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "11941481", "url": "https://glygen.org/publication/PubMed/11941481" } ] }, { "title": "Cloning and expression of the human N-acetylglutamate synthase gene.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12459178", "url": "https://glygen.org/publication/PubMed/12459178" } ] }, { "title": "The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Fiermonte G, Dolce V, David L, Santorelli FM, Dionisi-Vici C, Palmieri F, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12807890", "url": "https://glygen.org/publication/PubMed/12807890" } ] }, { "title": "Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.", "journal": "Human mutation", "date": "2003", "authors": "Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodes M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "12815590", "url": "https://glygen.org/publication/PubMed/12815590" } ] }, { "title": "Human arginase II: crystal structure and physiological role in male and female sexual arousal.", "journal": "Biochemistry", "date": "2003", "authors": "Cama E, Colleluori DM, Emig FA, Shin H, Kim SW, Kim NN, Traish AM, Ash DE, Christianson DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12859189", "url": "https://glygen.org/publication/PubMed/12859189" } ] }, { "title": "Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.", "journal": "Molecular genetics and metabolism", "date": "2003", "authors": "Camacho JA, Rioseco-Camacho N, Andrade D, Porter J, Kong J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12948741", "url": "https://glygen.org/publication/PubMed/12948741" } ] }, { "title": "Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).", "journal": "Molecular genetics and metabolism", "date": "2003", "authors": "Haberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "14680976", "url": "https://glygen.org/publication/PubMed/14680976" } ] }, { "title": "Mammalian N-acetylglutamate synthase.", "journal": "Molecular genetics and metabolism", "date": "2004", "authors": "Morizono H, Caldovic L, Shi D, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "15050968", "url": "https://glygen.org/publication/PubMed/15050968" } ] }, { "title": "Postpartum `psychosis` in mild argininosuccinate synthetase deficiency.", "journal": "Obstetrics and gynecology", "date": "2005", "authors": "Enns GM, O'Brien WE, Kobayashi K, Shinzawa H, Pellegrino JE", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "15863597", "url": "https://glygen.org/publication/PubMed/15863597" } ] }, { "title": "Crystal structure of human arginase I at 1.29-A resolution and exploration of inhibition in the immune response.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Di Costanzo L, Sabio G, Mora A, Rodriguez PC, Ochoa AC, Centeno F, Christianson DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "16141327", "url": "https://glygen.org/publication/PubMed/16141327" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P00966", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00966" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.", "journal": "Prenatal diagnosis", "date": "2006", "authors": "Kleijer WJ, Garritsen VH, van der Sterre ML, Berning C, Haberle J, Huijmans JG", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "16475226", "url": "https://glygen.org/publication/PubMed/16475226" } ] }, { "title": "Molecular characterization of the murine argininosuccinate synthetase locus.", "journal": "Gene", "date": "1991", "authors": "Surh L C, Beaudet A L, O'Brien W E", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "1708740", "url": "https://glygen.org/publication/PubMed/1708740" } ] }, { "title": "Restructuring of the dinucleotide-binding fold in an NADP(H) sensor protein.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2007", "authors": "Zheng X, Dai X, Zhao Y, Chen Q, Lu F, Yao D, Yu Q, Liu X, Zhang C, Gu X, Luo M", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "17496144", "url": "https://glygen.org/publication/PubMed/17496144" } ] }, { "title": "An NADPH sensor protein (HSCARG) down-regulates nitric oxide synthesis by association with argininosuccinate synthetase and is essential for epithelial cell viability.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Zhao Y, Zhang J, Li H, Li Y, Ren J, Luo M, Zheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "18263583", "url": "https://glygen.org/publication/PubMed/18263583" } ] }, { "title": "Structure of human argininosuccinate synthetase.", "journal": "Acta Crystallogr. D", "date": "2008", "authors": "Karlberg T, Collins R, van den Berg S, Flores A, Hammarstrom M, Hogbom M, Holmberg Schiavone L, Uppenberg J", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "18323623", "url": "https://glygen.org/publication/PubMed/18323623" } ] }, { "title": "Investigation of citrullinemia type I variants by in vitro expression studies.", "journal": "Human mutation", "date": "2008", "authors": "Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, Hohne W, Koch HG, Rolinski B, Gempel K, Haberle J", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "18473344", "url": "https://glygen.org/publication/PubMed/18473344" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P00966", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00966" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.", "journal": "Human mutation", "date": "2009", "authors": "Engel K, Hohne W, Haberle J", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" }, { "database": "RefSeq", "id": "NP_000041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041" } ], "reference": [ { "type": "PubMed", "id": "19006241", "url": "https://glygen.org/publication/PubMed/19006241" } ] }, { "title": "Additional mutations in argininosuccinate synthetase causing citrullinemia.", "journal": "Molecular biology & medicine", "date": "1991", "authors": "Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" } ], "reference": [ { "type": "PubMed", "id": "1943692", "url": "https://glygen.org/publication/PubMed/1943692" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "iPTMnet", "id": "P00966", 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Cederbaum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "9686347", "url": "https://glygen.org/publication/PubMed/9686347" } ] } ], "pathway": [ { "id": "hsa:445", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:445", "resource": "KEGG Pathway" }, { "id": "R-HSA-70635", "name": "Urea cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635", "resource": "Reactome", "description": "Urea cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "P09034-1", "protein_name": "Argininosuccinate synthase", "gene_name": "Ass1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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Deacetylated by histone deacetylases.", "evidence": [ { "database": "UniProtKB", "id": "P00966", "url": "https://www.uniprot.org/uniprot/P00966" }, { "database": "PubMed", "id": "28985504", "url": "https://glygen.org/publication/PubMed/28985504" } ] } ], "interactions": [], "reactions": [ { "id": "10932", "name": "", "equation": "ATP + L-aspartate + L-citrulline = 2-(N(omega)-L-arginino)succinate + AMP + diphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09034-1", "P00966-1", "P16460-1", "P22768-1", "O97069-1" ], "evidence": [ { "id": "10932", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10932" } ] }, { "id": "R-HSA-70577", "name": "ASS1 tetramer:NMRAL1 dimer:NADPH transforms L-Asp and L-Cit to ARSUA", "equation": "", "summary": "Cytosolic argininosuccinate synthase (ASS1 tetramer) catalyzes the reaction of aspartate (L-Asp), citrulline (L-Cit), and ATP to form argininosuccinate (ARSUA), AMP, and pyrophosphate (PPi). The function of the human enzyme in vivo is inferred from the hypercitrullinemia observed in patients with defective forms of the enzyme (e.g., Engel et al. 2009). The enzyme is active as a homotetramer (O'Brien 1980; Karlberg et al. 2008) and binds NmrA-like family domain-containing protein 1 (NMRAL1). NMRAL1 is a redox sensor protein that can undergo restructuring and subcellular redistribution in response to changes in intracellular NADPH/NADP+ levels. Under normal NADPH levels, it can form an asymmetrical dimer with one subunit occupied by one NADPH molecule, hiding the binding site for ASS1 thus impairing its activity and reducing the production of nitric oxide (Zheng et al. 2007, Zhao et al. 2008).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-29968" ], "output_participant_list": [], "enzyme_list": [ "P00966-1" ], "evidence": [ { "id": "R-HSA-70577", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70577" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29968", "participant_name": "L-Cit [cytosol]", "crossref": [ { "id": "C00327", "database": "COMPOUND", "url": "" }, { "id": "57743", "database": "ChEBI", "url": "" }, { "id": "000001532614", "database": "ZINC", "url": "" }, { "id": "C00327", "database": "COMPOUND", "url": "" }, { "id": "57743", "database": "ChEBI", "url": "" }, { "id": "000001532614", "database": "ZINC", "url": "" }, { "id": "C00327", "database": 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