{ "uniprot_canonical_ac": "P08243-1", "uniprot_ac": "P08243", "uniprot_id": "ASNS_HUMAN", "mass": { "chemical_mass": 64370.0, "monoisotopic_mass": 64370.0 }, "refseq": { "ac": "NP_001171546", "name": "asparagine synthetase [glutamine-hydrolyzing] isoform b", "summary": "The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546" }, "gene_names": [ { "name": "ASNS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08243", "id": "P08243" }, { "name": "ASNSD; TS11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546", "id": "NP_001171546" }, { "name": "ASNS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546", "id": "NP_001171546" }, { "name": "TS11", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08243", "id": "P08243" } ], "protein_names": [ { "name": "Asparagine synthetase [glutamine-hydrolyzing]", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08243" }, { "name": "6.3.5.4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08243" }, { "name": "Cell cycle control protein TS11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08243" }, { "name": "Glutamine-dependent asparagine synthetase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08243" }, { "name": "asparagine synthetase [glutamine-hydrolyzing] isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546", "id": "NP_001171546" }, { "name": "glutamine-dependent asparagine synthetase; TS11 cell cycle control protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546", "id": "NP_001171546" } ], "function": [ { "annotation": "An endoplasmic reticulum stress-related signature featuring ASNS for predicting prognosis and immune landscape in prostate cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001171546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546" }, { "database": "PubMed", "id": "38206293", "url": "https://glygen.org/publication/PubMed/38206293" } ] }, { "annotation": "An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001171546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546" }, { "database": "PubMed", "id": "35469797", "url": "https://glygen.org/publication/PubMed/35469797" } ] }, { "annotation": "Asparagine synthetase regulates lung-cancer metastasis by stabilizing the beta-catenin complex and modulating mitochondrial response. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546" }, { "database": "PubMed", "id": "35739087", "url": "https://glygen.org/publication/PubMed/35739087" } ] }, { "annotation": "The edited UPF1 is correlated with elevated asparagine synthetase in pancreatic ductal adenocarcinomas.", "evidence": [ { "database": "RefSeq", "id": "NP_001171546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546" }, { "database": "PubMed", "id": "35129766", "url": "https://glygen.org/publication/PubMed/35129766" } ] }, { "annotation": "The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001171546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546" } ] } ], "disease": [ { "disease_id": "MONDO:0014258", "recommended_name": { "id": "MONDO:0014258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014258", "name": "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome", "description": "" }, "synonyms": [ { "id": "MONDO:0014258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014258", "name": "asparagine synthetase deficiency", "description": "" }, { "id": "MONDO:0014258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014258", "name": "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome", "description": "" }, { "id": "MONDO:0014258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014258", "name": "ASNSD", "description": "" }, { "id": "MONDO:0014258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014258", "name": "Asns deficiency", "description": "" }, { "id": "MIM:615574", "resource": "MIM", "url": "https://www.omim.org/entry/615574", "name": "Asparagine synthetase deficiency", "description": "Asparagine synthetase deficiency" } ], "evidence": [ { "id": "615574", "database": "MIM", "url": "https://www.omim.org/entry/615574" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 2, "end_pos": 2, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of the glutamine-dependent asparagine synthetase activity, while the ammonia-dependent activity remained unaffected.", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" }, { "database": "PubMed", "id": "2573597", "url": "https://glygen.org/publication/PubMed/2573597" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000070669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070669" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08243", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08243" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08243", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08243" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"Protein" ] }, { "id": "C9JM09-1", "url": "https://www.uniprot.org/uniprot/C9JM09-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JT45", "url": "https://www.uniprot.org/uniprot/C9JT45", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JT45-1", "url": "https://www.uniprot.org/uniprot/C9JT45-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEJ5", "url": "https://www.uniprot.org/uniprot/F8WEJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEJ5-1", "url": "https://www.uniprot.org/uniprot/F8WEJ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08243-1", "url": "https://www.uniprot.org/uniprot/P08243-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08243-2", "url": "https://www.uniprot.org/uniprot/P08243-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08243-3", "url": "https://www.uniprot.org/uniprot/P08243-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYNGEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGVFAFVLLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAKGLVTLKHSATPFLKVEPFLPGHYEVLDLKPNGKVASVEMVKYHHCRDVPLHALYDNVEKLFPGFEIETVKNNLRILFNNAVKKRLMTDRRIGCLLSGGLDSSLVAATLLKQLKEAQVQYPLQTFAIGMEDSPDLLAARKVADHIGSEHYEVLFNSEEGIQALDEVIFSLETYDITTVRASVGMYLISKYIRKNTDSVVIFSGEGSDELTQGYIYFHKAPSPEKAEEESERLLRELYLFDVLRADRTTAAHGLELRVPFLDHRFSSYYLSLPPEMRIPKNGIEKHLLRETFEDSNLIPKEILWRPKEAFSDGITSVKNSWFKILQEYVEHQVDDAMMANAAQKFPFNTPKTKEGYYYRQVFERHYPGRADWLSHYWMPKWINATDPSARTLTHYKSAVKA", "length": 561, "header": "sp|P08243-1|ASNS_HUMAN Isoform 1 of Asparagine synthetase [glutamine-hydrolyzing] OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=4 CANONICAL=P08243-1" }, "isoforms": [ { "isoform_ac": "C9J057-1", "url": "", "sequence": { "sequence": "MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYNGEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGVFAFVLLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAKGLVTLKHSATPFLKVEPFLPGHYEVLDLKPNGKVASVEMVKYHHCRDVPLHA", "length": 214, "header": "tr|C9J057-1|ASNS_HUMAN Computationally mapped isoform of Asparagine synthetase [glutamine-hydrolyzing] OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=8 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869156, "end_pos": 97859244, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442734.5", "url": "https://www.ensembl.org/id/ENST00000442734.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400422.1", "url": "https://www.ensembl.org/id/ENSP00000400422.1" } ] } }, { "isoform_ac": "C9J605-1", "url": "", "sequence": { "sequence": "MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAF", "length": 32, "header": "tr|C9J605-1|ASNS_HUMAN Computationally mapped isoform of Asparagine synthetase [glutamine-hydrolyzing] OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=8 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869156, "end_pos": 97869061, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451771.5", "url": "https://www.ensembl.org/id/ENST00000451771.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000397802.1", "url": "https://www.ensembl.org/id/ENSP00000397802.1" } ] } }, { "isoform_ac": "C9JLA3-1", "url": "", "sequence": { "sequence": "MCGIWALFGSDDCLSVQCLSAMKIAHRG", "length": 28, "header": "tr|C9JLA3-1|C9JLA3_HUMAN Computationally mapped isoform of Asparagine synthetase (glutamine-hydrolyzing) OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=1 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869156, "end_pos": 97869073, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414884.1", "url": "https://www.ensembl.org/id/ENST00000414884.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000413797.1", "url": "https://www.ensembl.org/id/ENSP00000413797.1" } ] } }, { "isoform_ac": "C9JLN6-1", "url": "", "sequence": { "sequence": "MKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYNGEIYNHKKV", "length": 63, "header": "tr|C9JLN6-1|C9JLN6_HUMAN Computationally mapped isoform of Glutamine-dependent asparagine synthetase OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=1 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869093, "end_pos": 97868905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453600.5", "url": "https://www.ensembl.org/id/ENST00000453600.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408797.1", "url": "https://www.ensembl.org/id/ENSP00000408797.1" } ] } }, { "isoform_ac": "C9JM09-1", "url": "", "sequence": { "sequence": "MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYNGEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLD", "length": 118, "header": "tr|C9JM09-1|C9JM09_HUMAN Computationally mapped isoform of Glutamine-dependent asparagine synthetase OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=8 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869156, "end_pos": 97864392, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448127.1", "url": "https://www.ensembl.org/id/ENST00000448127.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402350.1", "url": "https://www.ensembl.org/id/ENSP00000402350.1" } ] } }, { "isoform_ac": "C9JT45-1", "url": "", "sequence": { "sequence": "MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYNGEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGVFAFVLLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAK", "length": 162, "header": "tr|C9JT45-1|C9JT45_HUMAN Computationally mapped isoform of Glutamine-dependent asparagine synthetase OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=1 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869156, "end_pos": 97864260, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437657.5", "url": "https://www.ensembl.org/id/ENST00000437657.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000394242.1", "url": "https://www.ensembl.org/id/ENSP00000394242.1" } ] } }, { "isoform_ac": "F8WEJ5-1", "url": "", "sequence": { "sequence": "MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYNGEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGVFAFVLLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAKGLVTLKHSATPFLKVEPFLPGHYEVLDLKPNGKVASVEMVKYHHCRDVPLHALYDNVEKLFPGFEIETVKNNLRILFNNAVKKRLMTDRRIGCLLSGGLDSSLVAATLLKQLKEAQVQYPLQTFAIGMEDSPDLLAARKVADHIGSEHYEVLFNSEEGIQALDEVIFSLETYDITTVRASVGMYLISKYIRKNTDSVVIFSGEGSDELTQGYIYFHKDWRGRKKNCFVCQKQNSWCFCL", "length": 401, "header": "tr|F8WEJ5-1|ASNS_HUMAN Computationally mapped isoform of Asparagine synthetase [glutamine-hydrolyzing] OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=1 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869156, "end_pos": 97854689, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454046.5", "url": "https://www.ensembl.org/id/ENST00000454046.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401651.1", "url": "https://www.ensembl.org/id/ENSP00000401651.1" } ] } }, { "isoform_ac": "P08243-1", "url": "", "sequence": { "sequence": "MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYNGEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGVFAFVLLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAKGLVTLKHSATPFLKVEPFLPGHYEVLDLKPNGKVASVEMVKYHHCRDVPLHALYDNVEKLFPGFEIETVKNNLRILFNNAVKKRLMTDRRIGCLLSGGLDSSLVAATLLKQLKEAQVQYPLQTFAIGMEDSPDLLAARKVADHIGSEHYEVLFNSEEGIQALDEVIFSLETYDITTVRASVGMYLISKYIRKNTDSVVIFSGEGSDELTQGYIYFHKAPSPEKAEEESERLLRELYLFDVLRADRTTAAHGLELRVPFLDHRFSSYYLSLPPEMRIPKNGIEKHLLRETFEDSNLIPKEILWRPKEAFSDGITSVKNSWFKILQEYVEHQVDDAMMANAAQKFPFNTPKTKEGYYYRQVFERHYPGRADWLSHYWMPKWINATDPSARTLTHYKSAVKA", "length": 561, "header": "sp|P08243-1|ASNS_HUMAN Isoform 1 of Asparagine synthetase [glutamine-hydrolyzing] OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=4 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869156, "end_pos": 97852262, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394308.8", "url": "https://www.ensembl.org/id/ENST00000394308.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000377845.3", "url": "https://www.ensembl.org/id/ENSP00000377845.3" } ] } }, { "isoform_ac": "P08243-2", "url": "", "sequence": { "sequence": "MKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYNGEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGVFAFVLLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAKGLVTLKHSATPFLKVEPFLPGHYEVLDLKPNGKVASVEMVKYHHCRDVPLHALYDNVEKLFPGFEIETVKNNLRILFNNAVKKRLMTDRRIGCLLSGGLDSSLVAATLLKQLKEAQVQYPLQTFAIGMEDSPDLLAARKVADHIGSEHYEVLFNSEEGIQALDEVIFSLETYDITTVRASVGMYLISKYIRKNTDSVVIFSGEGSDELTQGYIYFHKAPSPEKAEEESERLLRELYLFDVLRADRTTAAHGLELRVPFLDHRFSSYYLSLPPEMRIPKNGIEKHLLRETFEDSNLIPKEILWRPKEAFSDGITSVKNSWFKILQEYVEHQVDDAMMANAAQKFPFNTPKTKEGYYYRQVFERHYPGRADWLSHYWMPKWINATDPSARTLTHYKSAVKA", "length": 540, "header": "sp|P08243-2|ASNS_HUMAN Isoform 2 of Asparagine synthetase [glutamine-hydrolyzing] OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=4 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97869093, "end_pos": 97852262, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444334.5", "url": "https://www.ensembl.org/id/ENST00000444334.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000406994.1", "url": "https://www.ensembl.org/id/ENSP00000406994.1" } ] } }, { "isoform_ac": "P08243-3", "url": "", "sequence": { "sequence": "MQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGVFAFVLLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAKGLVTLKHSATPFLKVEPFLPGHYEVLDLKPNGKVASVEMVKYHHCRDVPLHALYDNVEKLFPGFEIETVKNNLRILFNNAVKKRLMTDRRIGCLLSGGLDSSLVAATLLKQLKEAQVQYPLQTFAIGMEDSPDLLAARKVADHIGSEHYEVLFNSEEGIQALDEVIFSLETYDITTVRASVGMYLISKYIRKNTDSVVIFSGEGSDELTQGYIYFHKAPSPEKAEEESERLLRELYLFDVLRADRTTAAHGLELRVPFLDHRFSSYYLSLPPEMRIPKNGIEKHLLRETFEDSNLIPKEILWRPKEAFSDGITSVKNSWFKILQEYVEHQVDDAMMANAAQKFPFNTPKTKEGYYYRQVFERHYPGRADWLSHYWMPKWINATDPSARTLTHYKSAVKA", "length": 478, "header": "sp|P08243-3|ASNS_HUMAN Isoform 3 of Asparagine synthetase [glutamine-hydrolyzing] OS=Homo sapiens OX=9606 GN=ASNS PE=1 SV=4 CANONICAL=P08243-1" }, "locus": { "chromosome": "7", "start_pos": 97864496, "end_pos": 97852262, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455086.5", "url": "https://www.ensembl.org/id/ENST00000455086.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408472.1", "url": "https://www.ensembl.org/id/ENSP00000408472.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P08243", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08243" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" } ] } ], "phosphorylation": [ { "start_pos": 471, "end_pos": 471, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08243", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08243" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser471" }, { "start_pos": 545, "end_pos": 545, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P08243", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08243" } ], "site_lbl": "Thr545" }, { "start_pos": 557, "end_pos": 557, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P08243", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08243" } ], "site_lbl": "Ser557" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Isolation and expression of novel human glutamate carboxypeptidases with N-acetylated alpha-linked acidic dipeptidase and dipeptidyl peptidase IV activity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pangalos MN, Neefs JM, Somers M, Verhasselt P, Bekkers M, van der Helm L, Fraiponts E, Ashton D, Gordon RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963693" } ], "reference": [ { "type": "PubMed", "id": "10085079", "url": "https://glygen.org/publication/PubMed/10085079" } ] }, { "title": "ATF6 activated by proteolysis binds in the presence of NF-Y (CBF) directly to the cis-acting element responsible for the mammalian unfolded protein response.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Yoshida H, Okada T, Haze K, Yanagi H, Yura T, Negishi M, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-380994", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380994" } ], "reference": [ { "type": "PubMed", "id": "10958673", "url": "https://glygen.org/publication/PubMed/10958673" } ] }, { "title": "Amino acids control mammalian gene transcription: activating transcription factor 2 is essential for the amino acid responsiveness of the CHOP promoter.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Bruhat A, Jousse C, Carraro V, Reimold AM, Ferrara M, Fafournoux P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9633012", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9633012" } ], "reference": [ { "type": "PubMed", "id": "10982836", "url": "https://glygen.org/publication/PubMed/10982836" } ] }, { "title": "Crystal structure of the CCAAT box/enhancer-binding protein beta activating transcription factor-4 basic leucine zipper heterodimer in the absence of DNA.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Podust LM, Krezel AM, Kim Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9633012", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9633012" } ], "reference": [ { "type": "PubMed", "id": "11018027", "url": "https://glygen.org/publication/PubMed/11018027" } ] }, { "title": "Peroxynitrite induces GADD34, 45, and 153 VIA p38 MAPK in human neuroblastoma SH-SY5Y cells.", "journal": "Free radical biology & medicine", "date": "2001", "authors": "Oh-Hashi K, Maruyama W, Isobe K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9648895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9648895" } ], "reference": [ { "type": "PubMed", "id": "11163539", "url": "https://glygen.org/publication/PubMed/11163539" } ] }, { "title": "Activation of Gadd34 by diverse apoptotic signals and suppression of its growth inhibitory effects by apoptotic inhibitors.", "journal": "International journal of cancer", "date": "2001", "authors": "Hollander MC, Sheikh MS, Yu K, Zhan Q, Iglesias M, Woodworth C, Fornace AJ Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9648895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9648895" } ], "reference": [ { "type": "PubMed", "id": "11241327", "url": "https://glygen.org/publication/PubMed/11241327" } ] }, { "title": "CCAAT/enhancer-binding protein-beta is a mediator of the nutrient-sensing response pathway that activates the human asparagine synthetase gene.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Siu F, Chen C, Zhong C, Kilberg MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9633012", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9633012" } ], "reference": [ { "type": "PubMed", "id": "11677247", "url": "https://glygen.org/publication/PubMed/11677247" } ] }, { "title": "Inhibition of CHOP translation by a peptide encoded by an open reading frame localized in the chop 5'UTR.", "journal": "Nucleic acids research", "date": "2001", "authors": "Jousse C, Bruhat A, Carraro V, Urano F, Ferrara M, Ron D, Fafournoux P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9633012", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9633012" } ], "reference": [ { "type": "PubMed", "id": "11691921", "url": "https://glygen.org/publication/PubMed/11691921" } ] }, { "title": "Calcium ionophore A23187 induces expression of the growth arrest and DNA damage inducible CCAAT/enhancer-binding protein (C/EBP)-related gene, gadd153. 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"MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVRKYPYLWLCYNGEIYNHKALQQRFEFEYQTNVDGEIILHLYDKGGIEKTICMLDGVFAFILLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAKGLVSLKHSTTPFLKVEPFLPGHYEVLDLKPNGKVASVEMVKYHHCTDEPLHAIYDSVEKLFPGFDLETVKNNLRILFDNAIKKRLMTDRRIGCLLSGGLDSSLVAASLLKQLKEAQVQYPLQTFAIGMEDSPDLLAARKVANYIGSEHHEVLFNSEEGIQALDEVIFSLETYDITTVRASVGMYLISKYIRKNTDSVVIFSGEGSDELTQGYIYFHKAPSPEKAEEESERLLKELYLFDVLRADRTTAAHGLELRVPFLDHRFSSYYLSLPPDMRIPKNGIEKHLLRETFEDCNLLPKEILWRPKEAFSDGITSVKNSWFKILQDYVEHQVDDEMMSAASQKFPFNTPKTKEGYFYRQIFERHYPGRADWLTHYWMPKWINATDPSARTLTHYKSAAKA", "length": 561 }, "evidence": [ { "id": "45924586", "url": "http://www.informatics.jax.org/homology/45924586", "database": "MGI" }, { "id": "P08243", "url": "https://omabrowser.org/oma/group/P08243/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" }, { "name": "asparagine biosynthetic process", "id": "GO:0006529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006529", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" }, { "name": "L-asparagine biosynthetic process", "id": "GO:0070981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070981", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" }, { "name": "asparagine synthase (glutamine-hydrolyzing) activity", "id": "GO:0004066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004066", "evidence": [ { "database": "UniProtKB", "id": "P08243", "url": "https://www.uniprot.org/uniprot/P08243" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 543, "end_pos": 545, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12228", "name": "", "equation": "ATP + H2O + L-aspartate + L-glutamine = AMP + diphosphate + H(+) + L-asparagine + L-glutamate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P49088-1", "P08243-1", "Q61024-1", "P49089-1", "P49090-1", "Q54MB4-1", "Q7KTW9-1" ], "evidence": [ { "id": "12228", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12228" } ] }, { "id": "R-HSA-1791118", "name": "Expression of ASNS (Asparagine Synthetase)", "equation": "", "summary": "The Asparagine Synthetase (ASNS) gene is transcribed to yield mRNA and the mRNA is translated to yield protein (Chen et al. 2004, Lee et al. 2008, Gjymishka et al. 2009, Sikalidis et al. 2011, Balasubramanian et al. 2013, inferred from the mouse homolog). Transcription of ASNS is activated by the unfolded protein response (Gjymishka et al. 2009), amino acid deficiency (Chen et al. 2004, Lee et al. 2008, Sikalidis et al. 2011, Balasubramanian et al. 2013, inferred from the mouse homolog), and heme deficiency (inferred from the mouse homolog).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-5642307" ], "output_participant_list": [ "R-HSA-70597" ], "enzyme_list": [ "P08243-1" ], "evidence": [ { "id": "R-HSA-1791118", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1791118" } ] }, { "id": "R-HSA-70599", "name": "aspartate + glutamine + ATP <=> asparagine + glutamate + AMP + pyrophosphate [ASNS]", "equation": "", "summary": "Cytosolic asparagine synthase (ASNS) catalyzes the reaction of aspartate, glutamine, and ATP to form asparagine, glutamate, AMP, and pyrophosphate. Studies of the recombinant protein expressed in E. coli suggest that the active form of the enzyme is a dimer (Van Heeke and Schuster 1989).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08243-1" ], "evidence": [ { "id": "R-HSA-70599", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70599" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-5642307", "participant_name": "ASNS gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000070669", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-HSA-70597", "participant_name": "ASNS [cytosol]", "crossref": [ { "id": "ENSG00000070669", "database": "OpenTargets", "url": "" }, { "id": "NP_597680.2", "database": "RefSeq", "url": "" }, { "id": "ENSG00000070669", "database": "Ensembl", "url": "" }, { "id": "NP_001171546.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000414379", "database": "Ensembl", "url": "" }, { "id": "ASNS_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENST00000394309", "database": "Ensembl", "url": "" }, { "id": "6GQ3", "database": "PDB", "url": "" }, { "id": "ENSP00000175506", "database": "Ensembl", "url": "" }, { "id": "22662", "database": "Orphanet", "url": "" }, { "id": "ENST00000175506", "database": "Ensembl", "url": "" }, { "id": "P08243", "database": "PRO", "url": "" }, { "id": "P08243", "database": "GeneCards", "url": "" }, { "id": "ENST00000455086", "database": "Ensembl", "url": "" }, { "id": "NP_001664.3", "database": "RefSeq", "url": "" }, { "id": "ENSP00000406994", "database": "Ensembl", "url": "" }, { "id": "P08243", "database": "UniProt", "url": "" }, { "id": "ENSP00000414901", "database": "Ensembl", "url": "" }, { "id": "NP_899199.2", "database": "RefSeq", "url": "" }, { "id": "ASNS_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "ENST00000437628", "database": "Ensembl", "url": "" }, { "id": "ENST00000394308", "database": "Ensembl", "url": "" }, { "id": "HMDBP00583", "database": "HMDB Protein", "url": "" }, { "id": "P08243", "database": "Pharos - Targets", "url": "" }, { "id": "NP_001171547.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000070669-ASNS", "database": "HPA", "url": "" }, { "id": "ENSP00000377846", "database": "Ensembl", "url": "" }, { "id": "ENST00000444334", "database": "Ensembl", "url": "" }, { "id": "NP_001171548.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000422745", "database": "Ensembl", "url": "" }, { "id": "P08243", "database": "ZINC target", "url": "" }, { "id": "ENSP00000377845", "database": "Ensembl", "url": "" }, { "id": "ENSP00000408472", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P08243", "gene_name": "ASNS", "activity": [ { "ec_number": "6.3.5.4", "activity": "ATP + H2O + L-aspartate + L-glutamine = AMP + diphosphate + H(+) + L-asparagine + L-glutamate.", "evidence": [ { "id": "P08243", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08243" } ] }, { "ec_number": "6.3.5.4", "activity": "", "evidence": [ { "id": "P08243", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08243" } ] } ] }, { "uniprot_ac": "P49088", "gene_name": "Asns", "activity": [ { "ec_number": "6.3.5.4", "activity": "ATP + H2O + L-aspartate + L-glutamine = AMP + diphosphate + H(+) + L-asparagine + L-glutamate.", "evidence": [ { "id": "P49088", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49088" } ] }, { "ec_number": "6.3.5.4", "activity": "", "evidence": [ { "id": "P49088", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49088" } ] } ] }, { "uniprot_ac": "P49089", "gene_name": "ASN1", "activity": [ { "ec_number": "6.3.5.4", "activity": "ATP + H2O + L-aspartate + L-glutamine = AMP + diphosphate + H(+) + L-asparagine + L-glutamate.", "evidence": [ { "id": "P49089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49089" } ] }, { "ec_number": "6.3.5.4", "activity": "", "evidence": [ { "id": "P49089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49089" } ] } ] }, { "uniprot_ac": "P49090", "gene_name": "ASN2", "activity": [ { "ec_number": "6.3.5.4", "activity": "ATP + H2O + L-aspartate + L-glutamine = AMP + diphosphate + H(+) + L-asparagine + L-glutamate.", "evidence": [ { "id": "P49090", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49090" } ] }, { "ec_number": "6.3.5.4", "activity": "", "evidence": [ { "id": "P49090", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49090" } ] } ] }, { "uniprot_ac": "Q54MB4", "gene_name": "asns", "activity": [ { "ec_number": "6.3.5.4", "activity": "ATP + H2O + L-aspartate + L-glutamine = AMP + diphosphate + H(+) + L-asparagine + L-glutamate.", "evidence": [ { "id": "Q54MB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54MB4" } ] }, { "ec_number": "6.3.5.4", "activity": "", "evidence": [ { "id": "Q54MB4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54MB4" } ] } ] }, { "uniprot_ac": "Q61024", "gene_name": "Asns", "activity": [ { "ec_number": "6.3.5.4", "activity": "ATP + H2O + L-aspartate + L-glutamine = AMP + diphosphate + H(+) + L-asparagine + L-glutamate.", "evidence": [ { "id": "Q61024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61024" } ] }, { "ec_number": "6.3.5.4", "activity": "", "evidence": [ { "id": "Q61024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61024" } ] } ] }, { "uniprot_ac": "Q7KTW9", "gene_name": "AsnS", "activity": [ { "ec_number": "6.3.5.4", "activity": "ATP + H2O + L-aspartate + L-glutamine = AMP + diphosphate + H(+) + L-asparagine + L-glutamate.", "evidence": [ { "id": "Q7KTW9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KTW9" } ] }, { "ec_number": "6.3.5.4", "activity": "", "evidence": [ { "id": "Q7KTW9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KTW9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 471, 545, 557 ], "sequon_annotation_sites": [ { "start_pos": 543, "end_pos": 545 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", 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}, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 82 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }