{ "uniprot_canonical_ac": "O43776-1", "uniprot_ac": "O43776", "uniprot_id": "SYNC_HUMAN", "mass": { "chemical_mass": 62943.0, "monoisotopic_mass": 62943.0 }, "refseq": { "ac": "NP_004530", "name": "asparagine--tRNA ligase, cytoplasmic", "summary": "Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530" }, "gene_names": [ { "name": "NARS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43776", "id": "O43776" }, { "name": "ASNRS; NARS; NEDMILEG; NEDMILG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530", "id": "NP_004530" }, { "name": "NARS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530", "id": "NP_004530" }, { "name": "NARS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43776", "id": "O43776" }, { "name": "NRS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43776", "id": "O43776" } ], "protein_names": [ { "name": "Asparagine--tRNA ligase, cytoplasmic", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43776" }, { "name": "6.1.1.22", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43776" }, { "name": "AsnRS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43776" }, { "name": "Asparaginyl-tRNA synthetase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43776" }, { "name": "Asparaginyl-tRNA synthetase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43776" }, { "name": "asparagine tRNA ligase 1, cytoplasmic; asparaginyl-tRNA synthetase, cytoplasmic", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530", "id": "NP_004530" }, { "name": "asparagine--tRNA ligase, cytoplasmic", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530", "id": "NP_004530" } ], "function": [ { "annotation": "Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530" } ] }, { "annotation": "Catalyzes the attachment of asparagine to tRNA(Asn) in a two-step reaction: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn) (PubMed:9421509, PubMed:32738225, PubMed:32788587). In addition to its essential role in protein synthesis, acts as a signaling molecule that induced migration of CCR3-expressing cells (PubMed:30171954, PubMed:12235211). Has an essential role in the development of the cerebral cortex, being required for proper proliferation of radial glial cells (PubMed:32788587).", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776#function" }, { "database": "PubMed", "id": "30171954", "url": "https://glygen.org/publication/PubMed/30171954" }, { "database": "PubMed", "id": "9421509", "url": "https://glygen.org/publication/PubMed/9421509" }, { "database": "PubMed", "id": "12235211", "url": "https://glygen.org/publication/PubMed/12235211" }, { "database": "PubMed", "id": "32738225", "url": "https://glygen.org/publication/PubMed/32738225" }, { "database": "PubMed", "id": "32788587", "url": "https://glygen.org/publication/PubMed/32788587" } ] }, { "annotation": "Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Erratum:[Nat Commun. 2021 Feb 15;12(1):1192. PMID: 33589599] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530" }, { "database": "PubMed", "id": "32788587", "url": "https://glygen.org/publication/PubMed/32788587" } ] }, { "annotation": "Study shows that ERO1L and NARS expression level are up-regulated in primary lung adenocarcinoma and identifies them with a potential to promote tumor metastasis and growth of cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530" }, { "database": "PubMed", "id": "27161446", "url": "https://glygen.org/publication/PubMed/27161446" } ] }, { "annotation": "The chemokine activity of UNE-N was significantly reduced by suppressing CCR3 expression with CCR3-targeting siRNA, and the loop3 region of UNE-N was shown to interact mainly with the extracellular domains of CCR3 in nuclear magnetic resonance perturbation experiments. Based on these results, evolutionarily acquired UNE-N elicits chemokine activities that would promote NRS-CCR3-mediated proinflammatory signaling in ILD.", "evidence": [ { "database": "RefSeq", "id": "NP_004530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530" }, { "database": "PubMed", "id": "30171954", "url": "https://glygen.org/publication/PubMed/30171954" } ] } ], "disease": [ { "disease_id": "MONDO:0030837", "recommended_name": { "id": "MONDO:0030837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030837", "name": "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities", "description": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems." }, "synonyms": [ { "id": "MONDO:0030837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030837", "name": "NEDMILEG", "description": "" }, { "id": "MONDO:0030837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030837", "name": "NEDMILEG, AD", "description": "" }, { "id": "MONDO:0030837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030837", "name": "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant", "description": "" }, { "id": "MIM:619092", "resource": "MIM", "url": "https://www.omim.org/entry/619092", "name": "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities", "description": "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities" } ], "evidence": [ { "id": "619092", "database": "MIM", "url": "https://www.omim.org/entry/619092" } ] }, { "disease_id": "MONDO:0100348", "recommended_name": { "id": "MONDO:0100348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100348", "name": "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities", "description": "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems." }, "synonyms": [ { "id": "MONDO:0100348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100348", "name": "NEDMILG, AR", "description": "" }, { "id": "MONDO:0100348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100348", "name": "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive", "description": "" }, { "id": "MIM:619091", "resource": "MIM", "url": "https://www.omim.org/entry/619091", "name": "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities", "description": "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities" } ], "evidence": [ { "id": "619091", "database": "MIM", "url": "https://www.omim.org/entry/619091" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "97.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134440", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134440" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43776", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43776" } ], "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": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "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": "O43776", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43776" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43776", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43776" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43776", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43776" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43776", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43776" } ], "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 susceptibility 1", "description": 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"categories": [ "Protein" ] }, { "id": "K7EIU7-1", "url": "https://www.uniprot.org/uniprot/K7EIU7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJ19", "url": "https://www.uniprot.org/uniprot/K7EJ19", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJ19-1", "url": "https://www.uniprot.org/uniprot/K7EJ19-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMQ6", "url": "https://www.uniprot.org/uniprot/K7EMQ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMQ6-1", "url": "https://www.uniprot.org/uniprot/K7EMQ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENF0", "url": "https://www.uniprot.org/uniprot/K7ENF0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENF0-1", "url": "https://www.uniprot.org/uniprot/K7ENF0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPK2", "url": "https://www.uniprot.org/uniprot/K7EPK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPK2-1", "url": "https://www.uniprot.org/uniprot/K7EPK2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ35", "url": "https://www.uniprot.org/uniprot/K7EQ35", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ35-1", "url": "https://www.uniprot.org/uniprot/K7EQ35-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43776-1", "url": "https://www.uniprot.org/uniprot/O43776-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43776-2", "url": "https://www.uniprot.org/uniprot/O43776-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVLAELYVSDREGSDATGDGTKEKPFKTGLKALMTVGKEPFPTIYVDSQKENERWNVISKSQLKNIKKMWHREQMKSESREKKEAEDSLRREKNLEEAKKITIKNDPSLPEPKCVKIGALEGYRGQRVKVFGWVHRLRRQGKNLMFLVLRDGTGYLQCVLADELCQCYNGVLLSTESSVAVYGMLNLTPKGKQAPGGHELSCDFWELIGLAPAGGADNLINEESDVDVQLNNRHMMIRGENMSKILKARSMVTRCFRDHFFDRGYYEVTPPTLVQTQVEGGATLFKLDYFGEEAFLTQSSQLYLETCLPALGDVFCIAQSYRAEQSRTRRHLAEYTHVEAECPFLTFDDLLNRLEDLVCDVVDRILKSPAGSIVHELNPNFQPPKRPFKRMNYSDAIVWLKEHDVKKEDGTFYEFGEDIPEAPERLMTDTINEPILLCRFPVEIKSFYMQRCPEDSRLTESVDVLMPNVGEIVGGSMRIFDSEEILAGYKREGIDPTPYYWYTDQRKYGTCPHGGYGLGLERFLTWILNRYHIRDVCLYPRFVQRCTP", "length": 548, "header": "sp|O43776-1|SYNC_HUMAN Isoform 1 of Asparagine--tRNA ligase, cytoplasmic OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "isoforms": [ { "isoform_ac": "K7EIU7-1", "url": "", "sequence": { "sequence": "MVLAELYVSDREGSDATGDGTKEKPFKTGLKALMTVGKEPFPTIYVDSQKENERWNVISKSQLKNIKKMWHREQMKSESREKKEAEDSLRREKNLEEAKKITIKNDPSLPEPKCVKIGALEGYRGQRVKVFGWVHRLRRQVSVLQWSSLVHGEQCCSVWNAK", "length": 162, "header": "tr|K7EIU7-1|K7EIU7_HUMAN Computationally mapped isoform of Asparaginyl-tRNA synthetase 1 OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "locus": { "chromosome": "18", "start_pos": 57621717, "end_pos": 57609379, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587194.1", "url": "https://www.ensembl.org/id/ENST00000587194.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464899.1", "url": "https://www.ensembl.org/id/ENSP00000464899.1" } ] } }, { "isoform_ac": "K7EJ19-1", "url": "", "sequence": { "sequence": "MVLAELYVSDREGSDATGDGTKEKPFKTGLKALMTVGKEPFPTIYVDSQKENERWNVISKSQLKNIKKMWHREQMKSESREKKEAEDSLRREKNLEEAKKITIKNDPSLPEPKCVKIGALEITSLIGGTMKLLLQH", "length": 136, "header": "tr|K7EJ19-1|K7EJ19_HUMAN Computationally mapped isoform of Asparaginyl-tRNA synthetase 1 OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "locus": { "chromosome": "18", "start_pos": 57621717, "end_pos": 57607318, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586807.5", "url": "https://www.ensembl.org/id/ENST00000586807.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464988.1", "url": "https://www.ensembl.org/id/ENSP00000464988.1" } ] } }, { "isoform_ac": "K7EMQ6-1", "url": "", "sequence": { "sequence": "MWHREQMKSESREKKEAEDSLRREKNLEEAKKITIKNDPSLPEPKCVKIGALEGYRGQRVKVFGWVHRLRRQGKNLMFLVLRDGTGYLQCVLADELCQCYNGVLLSTESSVAVYGMLNLTPKGKQAPG", "length": 128, "header": "tr|K7EMQ6-1|SYNC_HUMAN Computationally mapped isoform of Asparagine--tRNA ligase, cytoplasmic OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "locus": { "chromosome": "18", "start_pos": 57615864, "end_pos": 57607657, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587675.5", "url": "https://www.ensembl.org/id/ENST00000587675.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466606.1", "url": "https://www.ensembl.org/id/ENSP00000466606.1" } ] } }, { "isoform_ac": "K7ENF0-1", "url": "", "sequence": { "sequence": "MVLELYVSDREGSDATGDGTKEKPFKTGLKYCTMFKNCLFSPPYPRL", "length": 47, "header": "tr|K7ENF0-1|K7ENF0_HUMAN Computationally mapped isoform of Asparaginyl-tRNA synthetase 1 OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "locus": { "chromosome": "18", "start_pos": 57621717, "end_pos": 57615972, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590123.1", "url": "https://www.ensembl.org/id/ENST00000590123.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000466919.1", "url": "https://www.ensembl.org/id/ENSP00000466919.1" } ] } }, { "isoform_ac": "K7EPK2-1", "url": "", "sequence": { "sequence": "MTVGKEPFPTIYVDSQKENERWNVISKSQLKNIKKMWHREQMKSESREKKEAEDSLRREKNLEEAKKITIKNDPSLPEPKCVKIGALEGYRGQRVKVFGWVHRLRRQGKNLMFLVLRDGTGYLQCVLADELCQCYNGVLLSTESSVAVYGMLNLTPKGKQAPG", "length": 163, "header": "tr|K7EPK2-1|K7EPK2_HUMAN Computationally mapped isoform of Asparaginyl-tRNA synthetase 1 OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "locus": { "chromosome": "18", "start_pos": 57615969, "end_pos": 57607657, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588661.5", "url": "https://www.ensembl.org/id/ENST00000588661.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467421.1", "url": "https://www.ensembl.org/id/ENSP00000467421.1" } ] } }, { "isoform_ac": "K7EQ35-1", "url": "", "sequence": { "sequence": "MVLAELYVSDREGSDATGDGTKEKPFKTGLKALMTVGKEPFPTIYVDSQKENERWNVISKSQLKNIKKMWHREQMKSESREKKEVKIGALEGYRGQRVKVFGWVHRLRRQGKNLMFLVLRDGTGYLQCVLADELCQCYNGVLLSTESSVAVYGMLNLTPKGKQAPGG", "length": 167, "header": "tr|K7EQ35-1|K7EQ35_HUMAN Computationally mapped isoform of Asparaginyl-tRNA synthetase 1 OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "locus": { "chromosome": "18", "start_pos": 57621717, "end_pos": 57607654, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591599.5", "url": "https://www.ensembl.org/id/ENST00000591599.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467651.1", "url": "https://www.ensembl.org/id/ENSP00000467651.1" } ] } }, { "isoform_ac": "O43776-1", "url": "", "sequence": { "sequence": "MVLAELYVSDREGSDATGDGTKEKPFKTGLKALMTVGKEPFPTIYVDSQKENERWNVISKSQLKNIKKMWHREQMKSESREKKEAEDSLRREKNLEEAKKITIKNDPSLPEPKCVKIGALEGYRGQRVKVFGWVHRLRRQGKNLMFLVLRDGTGYLQCVLADELCQCYNGVLLSTESSVAVYGMLNLTPKGKQAPGGHELSCDFWELIGLAPAGGADNLINEESDVDVQLNNRHMMIRGENMSKILKARSMVTRCFRDHFFDRGYYEVTPPTLVQTQVEGGATLFKLDYFGEEAFLTQSSQLYLETCLPALGDVFCIAQSYRAEQSRTRRHLAEYTHVEAECPFLTFDDLLNRLEDLVCDVVDRILKSPAGSIVHELNPNFQPPKRPFKRMNYSDAIVWLKEHDVKKEDGTFYEFGEDIPEAPERLMTDTINEPILLCRFPVEIKSFYMQRCPEDSRLTESVDVLMPNVGEIVGGSMRIFDSEEILAGYKREGIDPTPYYWYTDQRKYGTCPHGGYGLGLERFLTWILNRYHIRDVCLYPRFVQRCTP", "length": 548, "header": "sp|O43776-1|SYNC_HUMAN Isoform 1 of Asparagine--tRNA ligase, cytoplasmic OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "locus": { "chromosome": "18", "start_pos": 57621717, "end_pos": 57601655, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000256854.10", "url": "https://www.ensembl.org/id/ENST00000256854.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000256854.4", "url": "https://www.ensembl.org/id/ENSP00000256854.4" } ] } }, { "isoform_ac": "O43776-2", "url": "", "sequence": { "sequence": "MVLAELYVSDREGSDATGDGTKEKPFKTGLKALMTVGKEPFPTIYVDSQKENERWNVISKSQLKNIKKMWHREQMKSESREKKEAEDSLRREKNLEEAKKITIKNDPSLPEPKCVKIGALEGYRGQRVKVFGWVHRLRRQVSVLQWSSLVHGEQCCSVWNAKSYPKGQAGSRWP", "length": 174, "header": "sp|O43776-2|SYNC_HUMAN Isoform 2 of Asparagine--tRNA ligase, cytoplasmic OS=Homo sapiens OX=9606 GN=NARS1 PE=1 SV=1 CANONICAL=O43776-1" }, "locus": { "chromosome": "18", "start_pos": 57621717, "end_pos": 57607652, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540592.5", "url": "https://www.ensembl.org/id/ENST00000540592.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442496.1", "url": "https://www.ensembl.org/id/ENSP00000442496.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43776", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43776" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "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": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 393, "end_pos": 393, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43776", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43776" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr393" }, { "start_pos": 394, "end_pos": 394, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43776", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43776" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser394" }, { "start_pos": 459, "end_pos": 459, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43776", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43776" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr459" }, { "start_pos": 482, "end_pos": 482, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "site_lbl": "Ser482" }, { "start_pos": 539, "end_pos": 539, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43776", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43776" }, { "database": "PubMed", "id": "31848261", "url": "" } ], "site_lbl": "Tyr539" }, { "start_pos": 61, "end_pos": 61, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43776", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43776" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O43776", "url": "http://phospho.elm.eu.org/byAccession/O43776.html" } ], "site_lbl": "Ser61" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Isolation of two cDNAs encoding functional human cytoplasmic cysteinyl-tRNA synthetase.", "journal": "Biological chemistry", "date": "2001", "authors": "Davidson E, Caffarella J, Vitseva O, Hou YM, King MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "11347887", "url": "https://glygen.org/publication/PubMed/11347887" } ] }, { "title": "The appended C-domain of human methionyl-tRNA synthetase has a tRNA-sequestering function.", "journal": "Biochemistry", "date": "2001", "authors": "Kaminska M, Shalak V, Mirande M", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "11714285", "url": "https://glygen.org/publication/PubMed/11714285" } ] }, { "title": "Interaction network of human aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Sang Lee J, Gyu Park S, Park H, Seol W, Lee S, Kim S", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "11829477", "url": "https://glygen.org/publication/PubMed/11829477" } ] }, { "title": "Cloning and expression of human phenylalanyl-tRNA synthetase in Escherichia coli: comparative study of purified recombinant enzymes.", "journal": "Protein expression and purification", "date": "2002", "authors": "Moor N, Linshiz G, Safro M", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "11858721", "url": "https://glygen.org/publication/PubMed/11858721" } ] }, { "title": "Histidyl-tRNA synthetase and asparaginyl-tRNA synthetase, autoantigens in myositis, activate chemokine receptors on T lymphocytes and immature dendritic cells.", "journal": "The Journal of experimental medicine", "date": "2002-09-16", "authors": "Howard O M Zack, Dong Hui Fang, Yang De, Raben Nina, Nagaraju Kanneboyina, Rosen Antony, Casciola-Rosen Livia, H\u00e4rtlein Michael, Kron Michael, Yang David, Yiadom Kwabena, Dwivedi Sunita, Plotz Paul H, Oppenheim Joost J", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "reference": [ { "type": "PubMed", "id": "12235211", "url": "https://glygen.org/publication/PubMed/12235211" } ] }, { "title": "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.", "journal": "American journal of human genetics", "date": "2003", "authors": "Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "12690580", "url": "https://glygen.org/publication/PubMed/12690580" } ] }, { "title": "An interferon-induced protein with release factor activity is a tryptophanyl-tRNA synthetase.", "journal": "FEBS letters", "date": "1992", "authors": "Bange FC, Flohr T, Buwitt U, Bottger EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "1373391", "url": "https://glygen.org/publication/PubMed/1373391" } ] }, { "title": "Crystal structure of human tryptophanyl-tRNA synthetase catalytic fragment: insights into substrate recognition, tRNA binding, and angiogenesis activity.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yu Y, Liu Y, Shen N, Xu X, Xu F, Jia J, Jin Y, Arnold E, Ding J", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "14660560", "url": "https://glygen.org/publication/PubMed/14660560" } ] }, { "title": "Crystal structures that suggest late development of genetic code components for differentiating aromatic side chains.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Yang XL, Otero FJ, Skene RJ, McRee DE, Schimmel P, Ribas de Pouplana L", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "14671330", "url": 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Becher S, Eberhard D, Schray B, Baack M, Hameister H, Knippers R", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "8188258", "url": "https://glygen.org/publication/PubMed/8188258" } ] }, { "title": "Cloning, sequencing and expression of a cDNA encoding mammalian valyl-tRNA synthetase.", "journal": "Gene", "date": "1993", "authors": "Vilalta A, Donovan D, Wood L, Vogeli G, Yang DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "8428657", "url": "https://glygen.org/publication/PubMed/8428657" } ] }, { "title": "Expression of human aspartyl-tRNA synthetase in Escherichia coli. Functional analysis of the N-terminal putative amphiphilic helix.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Escalante C, Yang DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "8449960", "url": "https://glygen.org/publication/PubMed/8449960" } ] }, { "title": "Human lysyl-tRNA synthetase accepts nucleotide 73 variants and rescues Escherichia coli double-defective mutant.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shiba K, Stello T, Motegi H, Noda T, Musier-Forsyth K, Schimmel P", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "9278442", "url": "https://glygen.org/publication/PubMed/9278442" } ] }, { "title": "Human cytosolic asparaginyl-tRNA synthetase: cDNA sequence, functional expression in Escherichia coli and characterization as human autoantigen.", "journal": "Nucleic acids research", "date": "1998", "authors": "Beaulande M, Tarbouriech N, Hartlein M", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" }, { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "9421509", "url": "https://glygen.org/publication/PubMed/9421509" } ] }, { "title": "Genomic organization, cDNA sequence, bacterial expression, and purification of human seryl-tRNA synthase.", "journal": "European journal of biochemistry", "date": "1997", "authors": "Vincent C, Tarbouriech N, Hartlein M", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "9431993", "url": "https://glygen.org/publication/PubMed/9431993" } ] }, { "title": "Human asparaginyl-tRNA synthetase: molecular cloning and the inference of the evolutionary history of Asx-tRNA synthetase family.", "journal": "Nucleic Acids Res.", "date": "1998", "authors": "Shiba K, Motegi H, Yoshida M, Noda T", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "reference": [ { "type": "PubMed", "id": "9801298", "url": "https://glygen.org/publication/PubMed/9801298" } ] }, { "title": "Anti-KS: identification of autoantibodies to asparaginyl-transfer RNA synthetase associated with interstitial lung disease.", "journal": "J. Immunol.", "date": "1999", "authors": "Hirakata M, Suwa A, Nagai S, Kron M A, Trieu E P, Mimori T, Akizuki M, Targoff I N", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "reference": [ { "type": "PubMed", "id": "9973509", "url": "https://glygen.org/publication/PubMed/9973509" } ] } ], "pathway": [ { "id": "hsa:4677", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4677", "resource": "KEGG Pathway" }, { "id": "R-HSA-379716", "name": "Cytosolic tRNA aminoacylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716", "resource": "Reactome", "description": "Cytosolic tRNA aminoacylation" } ], "orthologs": [ { "uniprot_canonical_ac": "F1LPV0-1", "protein_name": "Asparagine--tRNA ligase, cytoplasmic", "gene_name": "Nars1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSEVIRGTADMVLELYVSDREGNDATGDGTKEKPFKTGLKALMTVGKEPFPTIYVDSQKENERWDVISKSQMKNIKKMWHREQMKSDSREKKEAEDNLRREKNLEEAKKIIIKNDPSLPEPACVKISALEGYRGQRVKVFGWVHRLRRQGKNLMFLVLRDGTGYLQCVLSDDLCQCYNGVVLSTESSVAVYGTLNLTPKGKQAPGGHELSCDFWELVGLAPAGGADNLINEESDVDVQLNNRHMMIRGENMSKILKARSMITRCFRDHFFDRGYCEVTTPTLVQTQVEGGATLFKLDYFGEEAFLTQSSQLYLETCLPALGDVFCIAQSYRAEQSRTRRHLAEFTHVEAECPFLTFEDLLSRLEDLVCDVVDRVLKSPVASIVYDLNPNFKAPKRPFRRMNYSDAIEWLREHDVKKEDGTFYEFGDDIPEAPERLMTDTINEPILLCRFPVEIKSFYMQRCPEDPRLTESVDVLMPNVGEIVGGSMRSWDSEEILEGYKREGIDPAPYYWYTDQRKYGTCPHGGYGLGLERFLSWILNRYHIRDVCLYPRFLQRCRP", "length": 558 }, "evidence": [ { "id": "45928098", "url": "http://www.informatics.jax.org/homology/45928098", "database": "MGI" }, { "id": "O43776", "url": "https://omabrowser.org/oma/group/O43776/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P38707-1", "protein_name": "Asparagine--tRNA ligase, cytoplasmic", "gene_name": "DED81", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSSLYIKEATGVDELTTAGSQDHPFKTPAYALFASQQKSDATEPKLFVFKTEDNEYQEISASALKKARKGCDGLKKKAVKQKEQELKKQQKEAENAAKQLSALNITIKEDESLPAAIKTRIYDSYSKVGQRVKVSGWIHRLRSNKKVIFVVLRDGSGFIQCVLSGDLALAQQTLDLTLESTVTLYGTIVKLPEGKTAPGGVELNVDYYEVVGLAPGGEDSFTNKIAEGSDPSLLLDQRHLALRGDALSAVMKVRAALLKSVRRVYDEEHLTEVTPPCMVQTQVEGGSTLFKMNYYGEEAYLTQSSQLYLETCLASLGDVYTIQESFRAEKSHTRRHLSEYTHIEAELAFLTFDDLLQHIETLIVKSVQYVLEDPIAGPLVKQLNPNFKAPKAPFMRLQYKDAITWLNEHDIKNEEGEDFKFGDDIAEAAERKMTDTIGVPIFLTRFPVEIKSFYMKRCSDDPRVTESVDVLMPNVGEITGGSMRIDDMDELMAGFKREGIDTDAYYWFIDQRKYGTCPHGGYGIGTERILAWLCDRFTVRDCSLYPRFSGRCKP", "length": 554 }, "evidence": [ { "id": "O43776", "url": "https://omabrowser.org/oma/group/O43776/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q8BP47-1", "protein_name": "Asparagine--tRNA ligase, cytoplasmic", "gene_name": "Nars1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSEVIRGTAEMVLAELYVSDREGNDATGDGTKEKPFKTGLKALMTVGKEPFPTIYVDSQKENERWDVISKSQMKNIKKMWHREQMKNDSREKKEAEDNLRREKNLEEAKKIIIKNDPSLPEPACVKISALEGYRGQRVKVFGWVHRLRRQGKNLMFLVLRDGTGYLQCVLSDDLCQCYNGVVLSTESSVAVYGTLNLTPKGKQAPGGHELSCDFWELVGLAPAGGADNLINEESDVDVQLNNRHMMIRGENMSKILKARSMITRCFRDHFFDRGYCEVTTPTLVQTQVEGGATLFKLDYFGEEAFLTQSSQLYLETCLPALGDVFCIAQSYRAEQSRTRRHLAEFTHVEAECPFLTFEDLLNRLEDLVCDVVDRVLKSPVASIVYELNPNFKPPKRPFRRMNYSDAIEWLKEHDVKKEDGTFYEFGDDIPEAPERLMTDTINEPILLCRFPVEIKSFYMQRCPEDPRLTESVDVLMPNVGEIVGGSMRSWDSEEILEGYKREGIDPAPYYWYTDQRKYGTCPHGGYGLGLERFLSWILNRYHIRDVCLYPRFLQRCRP", "length": 559 }, "evidence": [ { "id": "45928098", "url": "http://www.informatics.jax.org/homology/45928098", "database": "MGI" }, { "id": "O43776", "url": "https://omabrowser.org/oma/group/O43776/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9V434-1", "protein_name": "Asparagine--tRNA ligase, cytoplasmic", "gene_name": "AsnRS", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MPADQLAELTLGAIFTSEKKGSDESGDGSESKPFKTILQAMRHAGKEPFPTIYVDTKDPNAAEPYEPAAKSQLKKIQKLFVRESHKNADKLQREAEDAEKRQQNLEDARKVKISEDPSLPVARKIRIYEGTANRDSRVKVYGWVHRLRRQGKSLIFITLRDGTGFLQCVLNDQLCQTYDALTLSTESSVVLFGTLKLVPEGKTAPGGHELNVDYWELIGLAPPGGADAILNEEAQPDVQLDNRHIMIRGENTSKVLKMRSVVTQAFRGHYEARGYNEVTPPTLVQTQVEGGSTLFKLKYFGEEAYLTQSSQLYLETCLPALGDVFTISQSYRAEQSRTRRHLAEYTHVEAECPFLTFDDLLDRLEDLVCDVVDRVLKSPWGYLVKELNPDFKPPQKPFRRMNYEDAIKWLKENNVTKDDGTFYEFGEDIPEAPERKMTDTINEPIMLCRFPAEIKSFYMQRCKEDQRLTESVDVLLPNVGEIVGGSMRIYDSEELLKGYKREGIDPQPYYWYTDQRVYGTMPHGGYGLGLERFLCWLLNRYHIREVCLYPRFLDRCRP", "length": 558 }, "evidence": [ { "id": "O43776", "url": "https://omabrowser.org/oma/group/O43776/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "CCR3 chemokine receptor binding", "id": "GO:0031728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031728", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "asparagine-tRNA ligase activity", "id": "GO:0004816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004816", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "tRNA aminoacylation for protein translation", "id": "GO:0006418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006418", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" }, { "name": "asparaginyl-tRNA aminoacylation", "id": "GO:0006421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006421", "evidence": [ { "database": "UniProtKB", "id": "O43776", "url": "https://www.uniprot.org/uniprot/O43776" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 186, "end_pos": 188, "annotation": "n_glycosylation_sequon" }, { "start_pos": 241, "end_pos": 243, "annotation": "n_glycosylation_sequon" }, { "start_pos": 392, "end_pos": 394, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "11180", "name": "", "equation": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "F1LPV0-1", "O43776-1", "Q96I59-1", "Q8BP47-1", "Q8BGV0-1", "P25345-1", "P38707-1", "Q554D9-1", "Q55FI3-1", "Q9V434-1" ], "evidence": [ { "id": "11180", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11180" } ] }, { "id": "R-HSA-379996", "name": "asparagine + tRNA(Asn) + ATP => Asn-tRNA(Asn) + AMP + pyrophosphate", "equation": "", "summary": "NARS (cytosolic asparaginyl tRNA synthetase) catalyzes the reaction of asparagine, tRNA(Asn), and ATP to form Asn-tRNA(Asn), AMP, and pyrophosphate. The enzyme is a class I tRNA synthetase (Beaulande et al. 1998).", "cellular_location": "cytosol", "input_participant_list": [ "R-HSA-379722" ], "output_participant_list": [ "R-HSA-379728" ], "enzyme_list": [ "O43776-1" ], "evidence": [ { "id": "R-HSA-379996", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379996" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-379722", "participant_name": "tRNA(Asn) [cytosol]", "crossref": [ { "id": "29172", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-379728", "participant_name": "Asn-tRNA(Asn) [cytosol]", "crossref": [ { "id": "29265", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "F1LPV0", "gene_name": "Nars1", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "F1LPV0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LPV0" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "F1LPV0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LPV0" } ] } ] }, { "uniprot_ac": "O43776", "gene_name": "NARS1", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "O43776", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43776" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "O43776", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43776" } ] } ] }, { "uniprot_ac": "P25345", "gene_name": "SLM5", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "P25345", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25345" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "P25345", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25345" } ] } ] }, { "uniprot_ac": "P38707", "gene_name": "DED81", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "P38707", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38707" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "P38707", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38707" } ] } ] }, { "uniprot_ac": "Q554D9", "gene_name": "asnS1", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "Q554D9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q554D9" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "Q554D9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q554D9" } ] } ] }, { "uniprot_ac": "Q55FI3", "gene_name": "asnS2", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "Q55FI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55FI3" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "Q55FI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55FI3" } ] } ] }, { "uniprot_ac": "Q8BGV0", "gene_name": "Nars2", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "Q8BGV0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BGV0" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "Q8BGV0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BGV0" } ] } ] }, { "uniprot_ac": "Q8BP47", "gene_name": "Nars1", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "Q8BP47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BP47" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "Q8BP47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BP47" } ] } ] }, { "uniprot_ac": "Q96I59", "gene_name": "NARS2", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "Q96I59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96I59" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "Q96I59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96I59" } ] } ] }, { "uniprot_ac": "Q9V434", "gene_name": "AsnRS", "activity": [ { "ec_number": "6.1.1.22", "activity": "ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn).", "evidence": [ { "id": "Q9V434", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V434" } ] }, { "ec_number": "6.1.1.22", "activity": "", "evidence": [ { "id": "Q9V434", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V434" } ] } ] } ], "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": [ 61, 393, 394, 459, 482, 539 ], "sequon_annotation_sites": [ { "start_pos": 186, "end_pos": 188 }, { "start_pos": 241, "end_pos": 243 }, { "start_pos": 392, "end_pos": 394 } ] }, "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", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "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": 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