{ "uniprot_canonical_ac": "P07814-1", "uniprot_ac": "P07814", "uniprot_id": "SYEP_HUMAN", "mass": { "chemical_mass": 170591.0, "monoisotopic_mass": 170591.0 }, "refseq": { "ac": "NP_004437", "name": "bifunctional glutamate/proline--tRNA ligase", "summary": "Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" }, "gene_names": [ { "name": "EPRS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07814", "id": "P07814" }, { "name": "EARS; EPRS; GLUPRORS; HLD15; PARS; PIG32; QARS; QPRS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437", "id": "NP_004437" }, { "name": "EPRS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437", "id": "NP_004437" }, { "name": "EPRS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07814", "id": "P07814" }, { "name": "GLNS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07814", "id": "P07814" }, { "name": "PARS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07814", "id": "P07814" }, { "name": "PIG32", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07814", "id": "P07814" }, { "name": "QARS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07814", "id": "P07814" }, { "name": "QPRS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07814", "id": "P07814" } ], "protein_names": [ { "name": "Bifunctional glutamate/proline--tRNA ligase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07814" }, { "name": "Bifunctional aminoacyl-tRNA synthetase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07814" }, { "name": "Cell proliferation-inducing gene 32 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07814" }, { "name": "GluRS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07814" }, { "name": "Glutamatyl-prolyl-tRNA synthetase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07814" }, { "name": "Glutamyl-tRNA synthetase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07814" }, { "name": "Prolyl-tRNA synthetase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07814" }, { "name": "bifunctional glutamate/proline--tRNA ligase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437", "id": "NP_004437" }, { "name": "glutamate tRNA ligase; glutaminyl-tRNA synthetase; proline-tRNA ligase; prolyl-tRNA synthetase; bifunctional aminoacyl-tRNA synthetase; proliferation-inducing protein 32; proliferation-inducing gene 32 protein; cell proliferation-inducing gene 32 protein; glutamatyl-prolyl-tRNA synthetase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437", "id": "NP_004437" } ], "function": [ { "annotation": "Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" } ] }, { "annotation": "Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" }, { "database": "PubMed", "id": "34537243", "url": "https://glygen.org/publication/PubMed/34537243" } ] }, { "annotation": "Glutamyl-Prolyl-tRNA Synthetase Regulates Proline-Rich Pro-Fibrotic Protein Synthesis During Cardiac Fibrosis.", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" }, { "database": "PubMed", "id": "32611237", "url": "https://glygen.org/publication/PubMed/32611237" } ] }, { "annotation": "Multifunctional protein which primarily functions within the aminoacyl-tRNA synthetase multienzyme complex, also known as multisynthetase complex. Within the complex it catalyzes the attachment of both L-glutamate and L-proline to their cognate tRNAs in a two-step reaction where the amino acid is first activated by ATP to form a covalent intermediate with AMP. Subsequently, the activated amino acid is transferred to the acceptor end of the cognate tRNA to form L-glutamyl-tRNA(Glu) and L-prolyl-tRNA(Pro) (PubMed:3290852, PubMed:29576217, PubMed:24100331, PubMed:23263184, PubMed:37212275). Upon interferon-gamma stimulation, EPRS1 undergoes phosphorylation, causing its dissociation from the aminoacyl-tRNA synthetase multienzyme complex. It is recruited to form the GAIT complex, which binds to stem loop-containing GAIT elements found in the 3'-UTR of various inflammatory mRNAs, such as ceruloplasmin. The GAIT complex inhibits the translation of these mRNAs, allowing interferon-gamma to redirect the function of EPRS1 from protein synthesis to translation inhibition in specific cell contexts (PubMed:15479637, PubMed:23071094). Furthermore, it can function as a downstream effector in the mTORC1 signaling pathway, by promoting the translocation of SLC27A1 from the cytoplasm to the plasma membrane where it mediates the uptake of long-chain fatty acid by adipocytes. Thereby, EPRS1 also plays a role in fat metabolism and more indirectly influences lifespan (PubMed:28178239).", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814#function" }, { "database": "PubMed", "id": "23263184", "url": "https://glygen.org/publication/PubMed/23263184" }, { "database": "PubMed", "id": "3290852", "url": "https://glygen.org/publication/PubMed/3290852" }, { "database": "PubMed", "id": "15479637", "url": "https://glygen.org/publication/PubMed/15479637" }, { "database": "PubMed", "id": "24100331", "url": "https://glygen.org/publication/PubMed/24100331" }, { "database": "PubMed", "id": "29576217", "url": "https://glygen.org/publication/PubMed/29576217" }, { "database": "PubMed", "id": "23071094", "url": "https://glygen.org/publication/PubMed/23071094" }, { "database": "PubMed", "id": "28178239", "url": "https://glygen.org/publication/PubMed/28178239" }, { "database": "PubMed", "id": "37212275", "url": "https://glygen.org/publication/PubMed/37212275" } ] }, { "annotation": "Prolyl-tRNA synthetase as a novel therapeutic target in multiple myeloma. Erratum:[Blood Cancer J. 2023 Feb 7;13(1):24. PMID: 36746923] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" }, { "database": "PubMed", "id": "36631435", "url": "https://glygen.org/publication/PubMed/36631435" } ] }, { "annotation": "The human glutamyl-prolyl-tRNA synthetase (EPRS) consisting of two fused synthetases .This study identified site-selective proteolysis as a mechanism that severs the linkage between the EPRS synthetases in vitro and in vivo Caspase action targeted Asp-929 in the third WHEP domain, thereby separating the two synthetases.", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" }, { "database": "PubMed", "id": "29643180", "url": "https://glygen.org/publication/PubMed/29643180" } ] } ], "disease": [ { "disease_id": "DOID:0070398", "recommended_name": { "id": "DOID:0070398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070398", "name": "hypomyelinating leukodystrophy 15", "description": "A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41." }, "synonyms": [ { "id": "DOID:0070398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070398", "name": "HLD15", "description": "" }, { "id": "MONDO:0054782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054782", "name": "leukodystrophy, hypomyelinating, 15", "description": "" }, { "id": "MONDO:0054782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054782", "name": "leukodystrophy, hypomyelinating, 15", "description": "" }, { "id": "MONDO:0054782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054782", "name": "HLD15", "description": "" }, { "id": "MIM:617951", "resource": "MIM", "url": "https://www.omim.org/entry/617951", "name": "Leukodystrophy, hypomyelinating, 15", "description": "Leukodystrophy, hypomyelinating, 15" } ], "evidence": [ { "id": "617951", "database": "MIM", "url": "https://www.omim.org/entry/617951" } ] } ], "snv": [ { "evidence": [ { "id": "rs759640732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759640732" }, { "id": "rs759640732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759640732" }, { "id": "rs759640732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759640732" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1025, "end_pos": 1025, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "1", "chr_pos": "219984223", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1025", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P07814", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07814" } ], "glycoeffect": [], "start_pos": 1119, "end_pos": 1119, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "219982790", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1119", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs374210879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374210879" }, { "id": "rs374210879", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374210879" }, { "id": "rs374210879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374210879#frequency_tab" }, { "id": "rs374210879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374210879" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 133, "end_pos": 133, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "1", "chr_pos": "220032518", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs143796513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143796513" }, { "id": "rs143796513", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143796513" }, { "id": "rs143796513", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143796513#frequency_tab" }, { "id": "rs143796513", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143796513" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1340, "end_pos": 1340, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIR->NIS).", "chr_id": "1", "chr_pos": "219978611", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1283953739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283953739" }, { "id": "rs1283953739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283953739" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1397, "end_pos": 1397, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "1", "chr_pos": "219973293", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1481796135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481796135" }, { "id": "rs1481796135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1481796135" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1459, "end_pos": 1459, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).", "chr_id": "1", "chr_pos": "219969069", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1459", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402090317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402090317" }, { "id": "rs1402090317", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402090317#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 168, "end_pos": 168, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "1", "chr_pos": "220032413", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199544775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199544775" }, { "id": "rs199544775", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199544775" }, { "id": "rs199544775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199544775" }, { "id": "rs199544775", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199544775#frequency_tab" }, { "id": "rs199544775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199544775" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 27, "end_pos": 27, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "1", "chr_pos": "220040237", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1461430392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461430392" }, { "id": "rs1461430392", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1461430392#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 521, "end_pos": 521, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVT).", "chr_id": "1", "chr_pos": "220010990", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P521", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148551457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148551457" }, { "id": "rs148551457", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148551457" }, { "id": "rs148551457", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148551457#frequency_tab" }, { "id": "rs148551457", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148551457" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 575, "end_pos": 575, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "1", "chr_pos": "220007220", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N575", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148551457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148551457" }, { "id": "rs148551457", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148551457" }, { "id": "rs148551457", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148551457#frequency_tab" }, { "id": "rs148551457", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148551457" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 575, "end_pos": 575, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLT).", "chr_id": "1", "chr_pos": "220007220", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N575", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P07814", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07814" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 602, "end_pos": 602, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "1", "chr_pos": "220006250", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K602", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1286406579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286406579" }, { "id": "rs1286406579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1286406579#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 613, "end_pos": 613, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "220006219", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T613", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370030761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370030761" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 631, "end_pos": 631, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "220006164", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T631", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P07814", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07814" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 647, "end_pos": 647, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "1", "chr_pos": "220006115", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K647", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P07814", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07814" }, { "id": "rs1356973912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356973912" }, { "id": "rs1356973912", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356973912" }, { "id": "rs1356973912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356973912" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 728, "end_pos": 728, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "219997341", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T728", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1460271901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460271901" }, { "id": "rs1460271901", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1460271901#frequency_tab" }, { "id": "rs1460271901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460271901" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 73, "end_pos": 73, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "1", "chr_pos": "220034927", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M73", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375294347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375294347" }, { "id": "rs375294347", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375294347" }, { "id": "rs375294347", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375294347#frequency_tab" }, { "id": "rs375294347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375294347" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 745, "end_pos": 745, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "219997291", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T745", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1228383647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228383647" }, { "id": "rs1228383647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228383647" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 746, "end_pos": 746, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "219997288", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T746", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469346382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469346382" }, { "id": "rs1469346382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469346382#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 746, "end_pos": 746, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "219997287", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T746", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P07814", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07814" }, { "id": "rs1293805075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293805075" }, { "id": "rs1293805075", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1293805075" }, { "id": "rs1293805075", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293805075" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 891, "end_pos": 891, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "219988693", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S891", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs769822889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769822889" }, { "id": "rs769822889", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769822889" }, { "id": "rs769822889", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769822889" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 898, "end_pos": 898, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "219988673", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T898", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550792257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550792257" }, { "id": "rs550792257", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550792257" }, { "id": "rs550792257", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550792257" }, { "id": "rs550792257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550792257" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 898, "end_pos": 898, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "219988672", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T898", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs989450613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989450613" }, { "id": "rs989450613", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs989450613" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 984, "end_pos": 984, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDG->NDS).", "chr_id": "1", "chr_pos": "219987230", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G984", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 1097, "end_pos": 1097, "sequence_org": "F", "sequence_mut": "A", "comment": "Almost complete loss of prolyl-tRNA ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "24100331", "url": "https://glygen.org/publication/PubMed/24100331" } ] }, { "start_pos": 1097, "end_pos": 1097, "sequence_org": "F", "sequence_mut": "W", "comment": "No effect on prolyl-tRNA ligase activity. Decreases inhibition by halofuginone.", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "24100331", "url": "https://glygen.org/publication/PubMed/24100331" } ] }, { "start_pos": 1152, "end_pos": 1152, "sequence_org": "R", "sequence_mut": "K", "comment": "No effect on prolyl-tRNA ligase activity. Decreases inhibition by halofuginone.", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "24100331", "url": "https://glygen.org/publication/PubMed/24100331" } ] }, { "start_pos": 1152, "end_pos": 1152, "sequence_org": "R", "sequence_mut": "L", "comment": "Almost complete loss of prolyl-tRNA ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "24100331", "url": "https://glygen.org/publication/PubMed/24100331" } ] }, { "start_pos": 886, "end_pos": 886, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes release from the aminoacyl-tRNA synthetase multienzyme complex and association with the GAIT complex upon interferon-gamma treatment. Abolishes interaction with SYNCRIP.", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23071094", "url": "https://glygen.org/publication/PubMed/23071094" } ] }, { "start_pos": 886, "end_pos": 886, "sequence_org": "S", "sequence_mut": "D", "comment": "Not active in translation inhibition (phosphomimetic) and abolishes GAIT complex association with eiF4G. No effect on interaction with SYNCRIP.", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23071094", "url": "https://glygen.org/publication/PubMed/23071094" } ] }, { "start_pos": 999, "end_pos": 999, "sequence_org": "S", "sequence_mut": "A", "comment": "Not active in translation inhibition, abolishes release from the aminoacyl-tRNA synthetase multienzyme complex and association with the GAIT complex upon interferon-gamma treatment.", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23071094", "url": "https://glygen.org/publication/PubMed/23071094" } ] }, { "start_pos": 999, "end_pos": 999, "sequence_org": "S", "sequence_mut": "D", "comment": "Active in translation inhibition (phosphomimetic). No effect on GAIT complex association with eiF4G.", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23071094", "url": "https://glygen.org/publication/PubMed/23071094" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "78.08", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "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": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "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": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "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": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "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": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "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": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07814" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "common_name": "Human" } ], "gene": [ { "name": "EPRS1", "url": "https://www.uniprot.org/uniprot/P07814", "locus": { "chromosome": "1", "start_pos": 219968600, "end_pos": 220046530, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136628", "url": "https://www.ensembl.org/id/ENSG00000136628" } ] } } ], "crossref": [ { "id": "ENSG00000136628", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136628", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P07814", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07814", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "6.1.1.15", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=6.1.1.15&UniProtAcc=P07814", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "6.1.1.17", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=6.1.1.17&UniProtAcc=P07814", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00778", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00778", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00807", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00807", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00862", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00862", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00936", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00936", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd10309", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd10309", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3873", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3873", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "EPRS1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2058", "url": "https://www.ncbi.nlm.nih.gov/gene/2058", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3418", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3418", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P07814", "url": "https://www.ebi.ac.uk/intact/interactors/id:P07814*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "V9GYZ6", "url": "https://www.ebi.ac.uk/intact/interactors/id:V9GYZ6*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000738", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000738", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000924", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000924", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001412", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001412", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002314", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002314", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004046", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004046", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004154", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004154", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004499", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004499", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004526", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004526", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006195", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006195", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009068", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009068", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011035", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011035", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014729", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014729", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016061", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016061", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017449", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017449", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020056", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020056", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020058", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020058", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020059", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020059", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020061", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020061", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033721", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033721", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036282", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036282", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036621", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036621", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042450", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042450", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045864", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045864", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR049437", "url": "https://www.ebi.ac.uk/interpro/entry/IPR049437", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2058", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2058", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "138295", "url": "http://www.omim.org/entry/138295", "database": "MIM", "categories": [ "Other" ] }, { "id": "617951", "url": "http://www.omim.org/entry/617951", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P07814", "url": "https://www.nextprot.org/entry/NX_P07814", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P07814", "url": "https://oglcnac.org/atlas/detail/P07814", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WDPKGNN", "url": "https://omabrowser.org/oma/group/WDPKGNN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2733051at2759", "url": "http://www.orthodb.org/?query=2733051at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43097", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43097", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43097:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43097:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43382", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43382", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43382:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43382:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR44490", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44490", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR44490:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44490:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1FYJ", "url": "https://www.rcsb.org/structure/1FYJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HVC", "url": "https://www.rcsb.org/structure/4HVC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4K86", "url": "https://www.rcsb.org/structure/4K86", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4K87", "url": "https://www.rcsb.org/structure/4K87", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4K88", "url": "https://www.rcsb.org/structure/4K88", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5A1N", "url": "https://www.rcsb.org/structure/5A1N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5A34", "url": "https://www.rcsb.org/structure/5A34", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5A5H", "url": "https://www.rcsb.org/structure/5A5H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5BMU", "url": "https://www.rcsb.org/structure/5BMU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5V58", "url": "https://www.rcsb.org/structure/5V58", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5VAD", "url": "https://www.rcsb.org/structure/5VAD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5Y6L", "url": "https://www.rcsb.org/structure/5Y6L", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6IY6", "url": "https://www.rcsb.org/structure/6IY6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7BBU", "url": "https://www.rcsb.org/structure/7BBU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7F98", "url": "https://www.rcsb.org/structure/7F98", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7F99", "url": "https://www.rcsb.org/structure/7F99", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7F9A", "url": "https://www.rcsb.org/structure/7F9A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7F9B", "url": "https://www.rcsb.org/structure/7F9B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7F9C", "url": "https://www.rcsb.org/structure/7F9C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7F9D", "url": "https://www.rcsb.org/structure/7F9D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OSY", "url": "https://www.rcsb.org/structure/7OSY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OSZ", "url": "https://www.rcsb.org/structure/7OSZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OT0", "url": "https://www.rcsb.org/structure/7OT0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OT1", "url": "https://www.rcsb.org/structure/7OT1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OT2", "url": "https://www.rcsb.org/structure/7OT2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OT3", "url": "https://www.rcsb.org/structure/7OT3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7X09", "url": "https://www.rcsb.org/structure/7X09", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7X1O", "url": "https://www.rcsb.org/structure/7X1O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y1H", "url": "https://www.rcsb.org/structure/7Y1H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y1W", "url": "https://www.rcsb.org/structure/7Y1W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y28", "url": "https://www.rcsb.org/structure/7Y28", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y3S", "url": "https://www.rcsb.org/structure/7Y3S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00043", "url": "http://pfam.xfam.org/family/PF00043", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00458", "url": "http://pfam.xfam.org/family/PF00458", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00587", "url": "http://pfam.xfam.org/family/PF00587", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00749", "url": "http://pfam.xfam.org/family/PF00749", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03129", "url": "http://pfam.xfam.org/family/PF03129", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03950", "url": "http://pfam.xfam.org/family/PF03950", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF09180", "url": "http://pfam.xfam.org/family/PF09180", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20974", "url": "http://pfam.xfam.org/family/PF20974", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P07814", "url": "https://pharos.nih.gov/targets/P07814", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P07814", "url": "http://purl.obolibrary.org/obo/PR_P07814", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2408522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2408522", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "14305", "url": "https://www.rhea-db.org/rhea/14305", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "23540", "url": "https://www.rhea-db.org/rhea/23540", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07814-1", "url": "https://www.uniprot.org/uniprot/P07814-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYZ6", "url": "https://www.uniprot.org/uniprot/V9GYZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYZ6-1", "url": "https://www.uniprot.org/uniprot/V9GYZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GZ76", "url": "https://www.uniprot.org/uniprot/V9GZ76", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GZ76-1", "url": "https://www.uniprot.org/uniprot/V9GZ76-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATLSLTVNSGDPPLGALLAVEHVKDDVSISVEEGKENILHVSENVIFTDVNSILRYLARVATTAGLYGSNLMEHTEIDHWLEFSATKLSSCDSFTSTINELNHCLSLRTYLVGNSLSLADLCVWATLKGNAAWQEQLKQKKAPVHVKRWFGFLEAQQAFQSVGTKWDVSTTKARVAPEKKQDVGKFVELPGAEMGKVTVRFPPEASGYLHIGHAKAALLNQHYQVNFKGKLIMRFDDTNPEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIQEGKAYVDDTPAEQMKAEREQRIDSKHRKNPIEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCKIQPHPRTGNKYNVYPTYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYIWEYSRLNLNNTVLSKRKLTWFVNEGLVDGWDDPRFPTVRGVLRRGMTVEGLKQFIAAQGSSRSVVNMEWDKIWAFNKKVIDPVAPRYVALLKKEVIPVNVPEAQEEMKEVAKHPKNPEVGLKPVWYSPKVFIEGADAETFSEGEMVTFINWGNLNITKIHKNADGKIISLDAKLNLENKDYKKTTKVTWLAETTHALPIPVICVTYEHLITKPVLGKDEDFKQYVNKNSKHEELMLGDPCLKDLKKGDIIQLQRRGFFICDQPYEPVSPYSCKEAPCVLIYIPDGHTKEMPTSGSKEKTKVEATKNETSAPFKERPTPSLNNNCTTSEDSLVLYNRVAVQGDVVRELKAKKAPKEDVDAAVKQLLSLKAEYKEKTGQEYKPGNPPAEIGQNISSNSSASILESKSLYDEVAAQGEVVRKLKAEKSPKAKINEAVECLLSLKAQYKEKTGKEYIPGQPPLSQSSDSSPTRNSEPAGLETPEAKVLFDKVASQGEVVRKLKTEKAPKDQVDIAVQELLQLKAQYKSLIGVEYKPVSATGAEDKDKKKKEKENKSEKQNKPQKQNDGQRKDPSKNQGGGLSSSGAGEGQGPKKQTRLGLEAKKEENLADWYSQVITKSEMIEYHDISGCYILRPWAYAIWEAIKDFFDAEIKKLGVENCYFPMFVSQSALEKEKTHVADFAPEVAWVTRSGKTELAEPIAIRPTSETVMYPAYAKWVQSHRDLPIKLNQWCNVVRWEFKHPQPFLRTREFLWQEGHSAFATMEEAAEEVLQILDLYAQVYEELLAIPVVKGRKTEKEKFAGGDYTTTIEAFISASGRAIQGGTSHHLGQNFSKMFEIVFEDPKIPGEKQFAYQNSWGLTTRTIGVMTMVHGDNMGLVLPPRVACVQVVIIPCGITNALSEEDKEALIAKCNDYRRRLLSVNIRVRADLRDNYSPGWKFNHWELKGVPIRLEVGPRDMKSCQFVAVRRDTGEKLTVAENEAETKLQAILEDIQVTLFTRASEDLKTHMVVANTMEDFQKILDSGKIVQIPFCGEIDCEDWIKKTTARDQDLEPGAPSMGAKSLCIPFKPLCELQPGAKCVCGKNPAKYYTLFGRSY", "length": 1512, "header": "sp|P07814-1|SYEP_HUMAN Isoform 1 of Bifunctional glutamate/proline--tRNA ligase OS=Homo sapiens OX=9606 GN=EPRS1 PE=1 SV=5 CANONICAL=P07814-1" }, "isoforms": [ { "isoform_ac": "P07814-1", "url": "", "sequence": { "sequence": "MATLSLTVNSGDPPLGALLAVEHVKDDVSISVEEGKENILHVSENVIFTDVNSILRYLARVATTAGLYGSNLMEHTEIDHWLEFSATKLSSCDSFTSTINELNHCLSLRTYLVGNSLSLADLCVWATLKGNAAWQEQLKQKKAPVHVKRWFGFLEAQQAFQSVGTKWDVSTTKARVAPEKKQDVGKFVELPGAEMGKVTVRFPPEASGYLHIGHAKAALLNQHYQVNFKGKLIMRFDDTNPEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIQEGKAYVDDTPAEQMKAEREQRIDSKHRKNPIEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCKIQPHPRTGNKYNVYPTYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYIWEYSRLNLNNTVLSKRKLTWFVNEGLVDGWDDPRFPTVRGVLRRGMTVEGLKQFIAAQGSSRSVVNMEWDKIWAFNKKVIDPVAPRYVALLKKEVIPVNVPEAQEEMKEVAKHPKNPEVGLKPVWYSPKVFIEGADAETFSEGEMVTFINWGNLNITKIHKNADGKIISLDAKLNLENKDYKKTTKVTWLAETTHALPIPVICVTYEHLITKPVLGKDEDFKQYVNKNSKHEELMLGDPCLKDLKKGDIIQLQRRGFFICDQPYEPVSPYSCKEAPCVLIYIPDGHTKEMPTSGSKEKTKVEATKNETSAPFKERPTPSLNNNCTTSEDSLVLYNRVAVQGDVVRELKAKKAPKEDVDAAVKQLLSLKAEYKEKTGQEYKPGNPPAEIGQNISSNSSASILESKSLYDEVAAQGEVVRKLKAEKSPKAKINEAVECLLSLKAQYKEKTGKEYIPGQPPLSQSSDSSPTRNSEPAGLETPEAKVLFDKVASQGEVVRKLKTEKAPKDQVDIAVQELLQLKAQYKSLIGVEYKPVSATGAEDKDKKKKEKENKSEKQNKPQKQNDGQRKDPSKNQGGGLSSSGAGEGQGPKKQTRLGLEAKKEENLADWYSQVITKSEMIEYHDISGCYILRPWAYAIWEAIKDFFDAEIKKLGVENCYFPMFVSQSALEKEKTHVADFAPEVAWVTRSGKTELAEPIAIRPTSETVMYPAYAKWVQSHRDLPIKLNQWCNVVRWEFKHPQPFLRTREFLWQEGHSAFATMEEAAEEVLQILDLYAQVYEELLAIPVVKGRKTEKEKFAGGDYTTTIEAFISASGRAIQGGTSHHLGQNFSKMFEIVFEDPKIPGEKQFAYQNSWGLTTRTIGVMTMVHGDNMGLVLPPRVACVQVVIIPCGITNALSEEDKEALIAKCNDYRRRLLSVNIRVRADLRDNYSPGWKFNHWELKGVPIRLEVGPRDMKSCQFVAVRRDTGEKLTVAENEAETKLQAILEDIQVTLFTRASEDLKTHMVVANTMEDFQKILDSGKIVQIPFCGEIDCEDWIKKTTARDQDLEPGAPSMGAKSLCIPFKPLCELQPGAKCVCGKNPAKYYTLFGRSY", "length": 1512, "header": "sp|P07814-1|SYEP_HUMAN Isoform 1 of Bifunctional glutamate/proline--tRNA ligase OS=Homo sapiens OX=9606 GN=EPRS1 PE=1 SV=5 CANONICAL=P07814-1" }, "locus": { "chromosome": "1", "start_pos": 220046388, "end_pos": 219968809, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366923.8", "url": "https://www.ensembl.org/id/ENST00000366923.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000355890.3", "url": "https://www.ensembl.org/id/ENSP00000355890.3" } ] } }, { "isoform_ac": "V9GYZ6-1", "url": "", "sequence": { "sequence": "MATLSLTVNSGDPPLGALLAVEHVKDDVSISVEEGKENILHVSENVIFTDVNSILRYLARVATTAGLYGSNLMEHTEIDHWLEFSATKLSSCDSFTSTINELNHCLSLRTYLVGNSLSLADLCVWATLKGNAAWQEQLKQKKAPVHVKRWFGFLEAQQAFQSVGTKWDVSTTKARVAPEKKQDVGKFVELPGAEMGKVTVRFPPEASGYLHIGHAKAALLNQHYQVNFKGKLIMRFDDTNPEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIQEGKAYVDDTPAEQMKAEREQRIDSKHRKNPIEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCKIQPHPRTGNKYNVYPTYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYIWEYSRLNLNNTVLSKRKLTWFVNEGLVDGWDDPRFPTVRGVLRRGMTVEGLKQFIAAQGSSRSVVNMEWDKIWAFNKKLRALCKKVIDPVAPRYVALLKKEVIPVNVPEAQEEMKEVAKHPKNPEVGLKPVWYSPKVFIEGADAETFSEGEMVTFINWGNLNITKIHKNADGKIISLDAKLNLENKDYKKTTKVTWLAETTHALPIPVICVTYEHLITKPVLGKDEDFKQYVNKNSKHEELMLGDPCLKDLKKGDIIQLQRRGFFICDQPYEPVSPYSCKEAPCVLIYIPDGHTKEMPTSGSKEKTKVEATKNETSAPFKERPTPSLNNNCTTSEDSLVLYNRVAVQGDVVRELKAKKAPKEDVDAAVKQLLSLKAEYKEKTGQEYKPGNPPAEIGQNISSNSSASILESKSLYDEVAAQGEVVRKLKAEKSPKAKINEAVECLLSLKAQYKEKTGKEYIPGQPPLSQSSDSSPTRNSEPAGLETPEAKVLFDKVASQGEVVRKLKTEKAPKDQVDIAVQELLQLKAQYKSLIGVEYKPVSATGAEDK", "length": 968, "header": "tr|V9GYZ6-1|V9GYZ6_HUMAN Computationally mapped isoform of glutamate--tRNA ligase OS=Homo sapiens OX=9606 GN=EPRS1 PE=1 SV=1 CANONICAL=P07814-1" }, "locus": { "chromosome": "1", "start_pos": 220046388, "end_pos": 219987297, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609181.5", "url": "https://www.ensembl.org/id/ENST00000609181.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000477245.1", "url": "https://www.ensembl.org/id/ENSP00000477245.1" } ] } }, { "isoform_ac": "V9GZ76-1", "url": "", "sequence": { "sequence": "MATLSLTVNSGDPPLGALLAVEHVKDDVSISVEEGKENILHVSENVIFTDVNSILRYLARVATTAGLYGSNLMEHTEIDHWLEFSATKLSSCDSFTSTINELNHCLSLRTYLVGNSLSLADLCVWATLKGNAAWQEQLKQKKAPVHVKRWFGFLEAQQAFQSVGTKWDVSTTKARVLLTHWACKSCSSEPALPG", "length": 194, "header": "tr|V9GZ76-1|V9GZ76_HUMAN Computationally mapped isoform of Glutamyl-prolyl-tRNA synthetase 1 OS=Homo sapiens OX=9606 GN=EPRS1 PE=1 SV=1 CANONICAL=P07814-1" }, "locus": { "chromosome": "1", "start_pos": 220046388, "end_pos": 220025205, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000477030.2", "url": "https://www.ensembl.org/id/ENST00000477030.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000477493.1", "url": "https://www.ensembl.org/id/ENSP00000477493.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1083, "start_aa": "Ser", "end_pos": 1083, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1083", "evidence": [ { "id": "P07814", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" }, { "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": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P07814", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07814" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 613, "start_aa": "Thr", "end_pos": 613, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr613", "evidence": [ { "id": "P07814", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" }, { "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": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P07814", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07814" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 613, "start_aa": "Thr", "end_pos": 613, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr613", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 631, "start_aa": "Thr", "end_pos": 631, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr631", "evidence": [ { "id": "P07814", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" }, { "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": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P07814", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07814" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 631, "start_aa": "Thr", "end_pos": 631, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr631", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 728, "start_aa": "Thr", "end_pos": 728, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr728", "evidence": [ { "id": "P07814", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" }, { "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": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P07814", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07814" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 745, "start_aa": "Thr", "end_pos": 745, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr745", "evidence": [ { "id": "P07814", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" }, { "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": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 746, "start_aa": "Thr", "end_pos": 746, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr746", "evidence": [ { "id": "P07814", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" }, { "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": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 891, "start_aa": "Ser", "end_pos": 891, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser891", "evidence": [ { "id": "P07814", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07814" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 898, "start_aa": "Thr", "end_pos": 898, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr898", "evidence": [ { "id": "P07814", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07814" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] } ], "phosphorylation": [ { "start_pos": 1000, "end_pos": 1000, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1000" }, { "start_pos": 1012, "end_pos": 1012, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr1012" }, { "start_pos": 1121, "end_pos": 1121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr1121" }, { "start_pos": 1336, "end_pos": 1336, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1336" }, { "start_pos": 1350, "end_pos": 1350, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "site_lbl": "Ser1350" }, { "start_pos": 355, "end_pos": 355, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "site_lbl": "Thr355" }, { "start_pos": 434, "end_pos": 434, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser434" }, { "start_pos": 57, "end_pos": 57, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr57" }, { "start_pos": 713, "end_pos": 713, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser713" }, { "start_pos": 747, "end_pos": 747, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "site_lbl": "Ser747" }, { "start_pos": 813, "end_pos": 813, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "P07814", "url": "http://phospho.elm.eu.org/byAccession/P07814.html" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ], "site_lbl": "Ser813" }, { "start_pos": 814, "end_pos": 814, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P07814", "url": "http://phospho.elm.eu.org/byAccession/P07814.html" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser814" }, { "start_pos": 819, "end_pos": 819, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P07814", "url": "http://phospho.elm.eu.org/byAccession/P07814.html" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser819" }, { "start_pos": 845, "end_pos": 845, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser845" }, { "start_pos": 872, "end_pos": 872, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "site_lbl": "Tyr872" }, { "start_pos": 880, "end_pos": 880, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser880" }, { "start_pos": 882, "end_pos": 882, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser882" }, { "start_pos": 883, "end_pos": 883, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser883" }, { "start_pos": 885, "end_pos": 885, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser885" }, { "start_pos": 886, "end_pos": 886, "kinase_uniprot_canonical_ac": "Q00535-1", "kinase_gene_name": "CDK5", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "19647514", "url": "https://glygen.org/publication/PubMed/19647514" }, { "database": "PubMed", "id": "21220307", "url": "https://glygen.org/publication/PubMed/21220307" } ], "site_lbl": "Ser886" }, { "start_pos": 886, "end_pos": 886, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CDK5", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" }, { "database": "PubMed", "id": "21220307", "url": "https://glygen.org/publication/PubMed/21220307" }, { "database": "PRO", "id": "P07814", "url": "http://purl.obolibrary.org/obo/P07814" }, { "database": "PubMed", "id": "19647514", "url": "https://glygen.org/publication/PubMed/19647514" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser886" }, { "start_pos": 888, "end_pos": 888, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr888" }, { "start_pos": 891, "end_pos": 891, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser891" }, { "start_pos": 898, "end_pos": 898, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr898" }, { "start_pos": 998, "end_pos": 998, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "site_lbl": "Ser998" }, { "start_pos": 999, "end_pos": 999, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by RPS6KB1", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PRO", "id": "P07814", "url": "http://purl.obolibrary.org/obo/P07814" }, { "database": "PubMed", "id": "19647514", "url": "https://glygen.org/publication/PubMed/19647514" }, { "database": "PubMed", "id": "21220307", "url": "https://glygen.org/publication/PubMed/21220307" }, { "database": "PubMed", "id": "28178239", "url": "https://glygen.org/publication/PubMed/28178239" } ], "site_lbl": "Ser999" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification and characterization of a human tRNA-specific adenosine deaminase related to the ADAR family of pre-mRNA editing enzymes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Maas S, Gerber AP, Rich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "10430867", "url": "https://glygen.org/publication/PubMed/10430867" } ] }, { "title": "Nucleolar localization of human methionyl-tRNA synthetase and its role in ribosomal RNA synthesis.", "journal": "J. Cell Biol.", "date": "2000", "authors": "Ko YG, Kang YS, Kim EK, Park SG, Kim S", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "10791971", "url": "https://glygen.org/publication/PubMed/10791971" } ] }, { "title": "The human tRNA(m(2)(2)G(26))dimethyltransferase: functional expression and characterization of a cloned hTRM1 gene.", "journal": "Nucleic acids research", "date": "2000", "authors": "Liu J, Straby KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "10982862", "url": "https://glygen.org/publication/PubMed/10982862" } ] }, { "title": "Pseudouridine synthase 3 from mouse modifies the anticodon loop of tRNA.", "journal": "Biochemistry", "date": "2000", "authors": "Chen J, Patton JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "11027153", "url": "https://glygen.org/publication/PubMed/11027153" } ] }, { "title": "Cloning of a human tRNA isopentenyl transferase.", "journal": "Gene", "date": "2000", "authors": "Golovko A, Hjalm G, Sitbon F, Nicander B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "11111046", "url": "https://glygen.org/publication/PubMed/11111046" } ] }, { "title": "Structural analysis of multifunctional peptide motifs in human bifunctional tRNA synthetase: identification of RNA-binding residues and functional implications for tandem repeats.", "journal": "Biochemistry", "date": "2000", "authors": "Jeong E J, Hwang G S, Kim K H, Kim M J, Kim S, Kim K S", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "11123902", "url": "https://glygen.org/publication/PubMed/11123902" } ] }, { "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": "Two proteins that form a complex are required for 7-methylguanosine modification of yeast tRNA.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Alexandrov A, Martzen MR, Phizicky EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "12403464", "url": "https://glygen.org/publication/PubMed/12403464" } ] }, { "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": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Andersen Jens S, Wilkinson Christopher J, Mayor Thibault, Mortensen Peter, Nigg Erich A, Mann Matthias", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "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": "https://glygen.org/publication/PubMed/14671330" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Noncanonical function of glutamyl-prolyl-tRNA synthetase: gene-specific silencing of translation.", "journal": "Cell", "date": "2004", "authors": "Sampath P, Mazumder B, Seshadri V, Gerber CA, Chavatte L, Kinter M, Ting SM, Dignam JD, Kim S, Driscoll DM, Fox PL", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "15479637", "url": "https://glygen.org/publication/PubMed/15479637" } ] }, { "title": "Exons encoding the highly conserved part of human glutaminyl-tRNA synthetase.", "journal": "J. Mol. Evol.", "date": "1992", "authors": "Kaiser E, Eberhard D, Knippers R", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "1556743", "url": "https://glygen.org/publication/PubMed/1556743" } ] }, { "title": "The tRNA methylase METTL1 is phosphorylated and inactivated by PKB and RSK in vitro and in cells.", "journal": "The EMBO journal", "date": "2005", "authors": "Cartlidge RA, Knebel A, Peggie M, Alexandrov A, Phizicky EM, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15861136", "url": "https://glygen.org/publication/PubMed/15861136" } ] }, { "title": "Identification and functional characterization of the candidate tumor suppressor gene TRIT1 in human lung cancer.", "journal": "Oncogene", "date": "2005", "authors": "Spinola M, Galvan A, Pignatiello C, Conti B, Pastorino U, Nicander B, Paroni R, Dragani TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15870694", "url": "https://glygen.org/publication/PubMed/15870694" } ] }, { "title": "A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis.", "journal": "Cancer Res.", "date": "2005", "authors": "Kato T, Daigo Y, Hayama S, Ishikawa N, Yamabuki T, Ito T, Miyamoto M, Kondo S, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15994936", "url": "https://glygen.org/publication/PubMed/15994936" } ] }, { "title": "The bipartite structure of the tRNA m1A58 methyltransferase from S. cerevisiae is conserved in humans.", "journal": "RNA (New York, N.Y.)", "date": "2005", "authors": "Ozanick S, Krecic A, Andersland J, Anderson JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "16043508", "url": "https://glygen.org/publication/PubMed/16043508" } ] }, { "title": "The C-terminal appended domain of human cytosolic leucyl-tRNA synthetase is indispensable in its interaction with arginyl-tRNA synthetase in the multi-tRNA synthetase complex.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Ling C, Yao YN, Zheng YG, Wei H, Wang L, Wu XF, Wang ED", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "16055448", "url": "https://glygen.org/publication/PubMed/16055448" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Methylation of tRNAAsp by the DNA methyltransferase homolog Dnmt2.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Goll MG, Kirpekar F, Maggert KA, Yoder JA, Hsieh CL, Zhang X, Golic KG, Jacobsen SE, Bestor TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "16424344", "url": "https://glygen.org/publication/PubMed/16424344" } ] }, { "title": "Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.", "journal": "Nature genetics", "date": "2006", "authors": "Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "16429158", "url": "https://glygen.org/publication/PubMed/16429158" } ] }, { "title": "Methionyl-tRNA Synthetase from Phaseolus aureus: Purification and Properties.", "journal": "Plant physiology", "date": "1981", "authors": "Burnell JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2408522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2408522" } ], "reference": [ { "type": "PubMed", "id": "16661668", "url": "https://glygen.org/publication/PubMed/16661668" } ] }, { "title": "Selenium toxicity: aminoacylation and Peptide bond formation with selenomethionine.", "journal": "Plant physiology", "date": "1981", "authors": "Eustice DC, Kull FJ, Shrift A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2408522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2408522" } ], "reference": [ { "type": "PubMed", "id": "16661782", "url": "https://glygen.org/publication/PubMed/16661782" } ] }, { "title": "Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration.", "journal": "Nature", "date": "2006", "authors": "Lee JW, Beebe K, Nangle LA, Jang J, Longo-Guess CM, Cook SA, Davisson MT, Sundberg JP, Schimmel P, Ackerman SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "16906134", "url": "https://glygen.org/publication/PubMed/16906134" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA).", "journal": "Nucleic acids research", "date": "2006", "authors": "Brzezicha B, Schmidt M, Makalowska I, Jarmolowski A, Pienkowska J, Szweykowska-Kulinska Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "17071714", "url": "https://glygen.org/publication/PubMed/17071714" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Interferon induces tryptophanyl-tRNA synthetase expression in human fibroblasts.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Rubin BY, Anderson SL, Xing L, Powell RJ, Tate WP", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "1761529", "url": "https://glygen.org/publication/PubMed/1761529" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "J. Proteome Res.", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Human DNMT2 methylates tRNA(Asp) molecules using a DNA methyltransferase-like catalytic mechanism.", "journal": "RNA (New York, N.Y.)", "date": "2008", "authors": "Jurkowski TP, Meusburger M, Phalke S, Helm M, Nellen W, Reuter G, Jeltsch A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "18567810", "url": "https://glygen.org/publication/PubMed/18567810" } ] }, { "title": "TiO(2)-based phosphoproteomic analysis of the plasma membrane and the effects of phosphatase inhibitor treatment.", "journal": "Journal of proteome research", "date": "2008", "authors": "Thingholm TE, Larsen MR, Ingrell CR, Kassem M, Jensen ON", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "A functional proteomics approach links the ubiquitin-related modifier Urm1 to a tRNA modification pathway.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Schlieker CD, Van der Veen AG, Damon JR, Spooner E, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "19017811", "url": "https://glygen.org/publication/PubMed/19017811" } ] }, { "title": "Dissection of the structural organization of the aminoacyl-tRNA synthetase complex.", "journal": "J. Biol. Chem.", "date": "2009", "authors": "Kaminska M, Havrylenko S, Decottignies P, Gillet S, Le Marechal P, Negrutskii B, Mirande M", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "19131329", "url": "https://glygen.org/publication/PubMed/19131329" } ] }, { "title": "Dynamic Organization of Aminoacyl-tRNA Synthetase Complexes in the Cytoplasm of Human Cells.", "journal": "J. Biol. Chem.", "date": "2009", "authors": "Kaminska Monika, Havrylenko Svitlana, Decottignies Paulette, Le Mar\u00e9chal Pierre, Negrutskii Boris, Mirande Marc", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "19289464", "url": "https://glygen.org/publication/PubMed/19289464" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Queuosine formation in eukaryotic tRNA occurs via a mitochondria-localized heteromeric transglycosylase.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Boland C, Hayes P, Santa-Maria I, Nishimura S, Kelly VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "19414587", "url": "https://glygen.org/publication/PubMed/19414587" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Two-site phosphorylation of EPRS coordinates multimodal regulation of noncanonical translational control activity.", "journal": "Molecular cell", "date": "2009", "authors": "Arif A, Jia J, Mukhopadhyay R, Willard B, Kinter M, Fox PL", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "19647514", "url": "https://glygen.org/publication/PubMed/19647514" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "The primary structure of human glutaminyl-tRNA synthetase. A highly conserved core, amino acid repeat regions, and homologies with translation elongation factors.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Fett R, Knippers R", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "1988429", "url": "https://glygen.org/publication/PubMed/1988429" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Mammalian ALKBH8 possesses tRNA methyltransferase activity required for the biogenesis of multiple wobble uridine modifications implicated in translational decoding.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Songe-Moller L, van den Born E, Leihne V, Vagbo CB, Kristoffersen T, Krokan HE, Kirpekar F, Falnes PO, Klungland A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "20123966", "url": "https://glygen.org/publication/PubMed/20123966" } ] }, { "title": "Phosphoproteomic analysis of primary human multiple myeloma cells.", "journal": "Journal of proteomics", "date": "2010", "authors": "Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ] }, { "title": "Glycopeptide-specific monoclonal antibodies suggest new roles for O-GlcNAc.", "journal": "Nature chemical biology", "date": "2010", "authors": "Teo CF, Ingale S, Wolfert MA, Elsayed GA, Not LG, Chatham JC, Wells L, Boons GJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "20305658", "url": "https://glygen.org/publication/PubMed/20305658" } ] }, { "title": "Human AlkB homolog ABH8 Is a tRNA methyltransferase required for wobble uridine modification and DNA damage survival.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Fu D, Brophy JA, Chan CT, Atmore KA, Begley U, Paules RS, Dedon PC, Begley TJ, Samson LD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "20308323", "url": "https://glygen.org/publication/PubMed/20308323" } ] }, { "title": "Characterization of the human tRNA-guanine transglycosylase: confirmation of the heterodimeric subunit structure.", "journal": "RNA (New York, N.Y.)", "date": "2010", "authors": "Chen YC, Kelly VP, Stachura SV, Garcia GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "20354154", "url": "https://glygen.org/publication/PubMed/20354154" } ] }, { "title": "Identification of eukaryotic and prokaryotic methylthiotransferase for biosynthesis of 2-methylthio-N6-threonylcarbamoyladenosine in tRNA.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Arragain S, Handelman SK, Forouhar F, Wei FY, Tomizawa K, Hunt JF, Douki T, Fontecave M, Mulliez E, Atta M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "20584901", "url": "https://glygen.org/publication/PubMed/20584901" } ] }, { "title": "tRNA(His) guanylyltransferase (THG1), a unique 3'-5' nucleotidyl transferase, shares unexpected structural homology with canonical 5'-3' DNA polymerases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Hyde SJ, Eckenroth BE, Smith BA, Eberley WA, Heintz NH, Jackman JE, Doublie S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "title": "Evolution of eukaryal tRNA-guanine transglycosylase: insight gained from the heterocyclic substrate recognition by the wild-type and mutant human and Escherichia coli tRNA-guanine transglycosylases.", "journal": "Nucleic acids research", "date": "2011", "authors": "Chen YC, Brooks AF, Goodenough-Lashua DM, Kittendorf JD, Showalter HD, Garcia GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "21131277", "url": "https://glygen.org/publication/PubMed/21131277" } ] }, { "title": "Phosphorylation of glutamyl-prolyl tRNA synthetase by cyclin-dependent kinase 5 dictates transcript-selective translational control.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Arif A, Jia J, Moodt RA, DiCorleto PE, Fox PL", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "21220307", "url": "https://glygen.org/publication/PubMed/21220307" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Combining high-energy C-trap dissociation and electron transfer dissociation for protein O-GlcNAc modification site assignment.", "journal": "Journal of proteome research", "date": "2011", "authors": "Zhao P, Viner R, Teo CF, Boons GJ, Horn D, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "21740066", "url": "https://glygen.org/publication/PubMed/21740066" } ] }, { "title": "The first identification of lysine malonylation substrates and its regulatory enzyme.", "journal": "Molecular & cellular proteomics : MCP", "date": "2011", "authors": "Peng C, Lu Z, Xie Z, Cheng Z, Chen Y, Tan M, Luo H, Zhang Y, He W, Yang K, Zwaans BM, Tishkoff D, Ho L, Lombard D, He TC, Dai J, Verdin E, Ye Y, Zhao Y", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "21908771", "url": "https://glygen.org/publication/PubMed/21908771" } ] }, { "title": "Widespread occurrence of 5-methylcytosine in human coding and non-coding RNA.", "journal": "Nucleic acids research", "date": "2012", "authors": "Squires JE, Patel HR, Nousch M, Sibbritt T, Humphreys DT, Parker BJ, Suter CM, Preiss T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "22344696", "url": "https://glygen.org/publication/PubMed/22344696" } ] }, { "title": "Mapping the tRNA binding site on the surface of human DNMT2 methyltransferase.", "journal": "Biochemistry", "date": "2012", "authors": "Jurkowski TP, Shanmugam R, Helm M, Jeltsch A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "22591353", "url": "https://glygen.org/publication/PubMed/22591353" } ] }, { "title": "The human tRNA m (5) C methyltransferase Misu is multisite-specific.", "journal": "RNA biology", "date": "2012", "authors": "Auxilien S, Guerineau V, Szweykowska-Kulinska Z, Golinelli-Pimpaneau B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "22995836", "url": "https://glygen.org/publication/PubMed/22995836" } ] }, { "title": "A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.", "journal": "Nucleic acids research", "date": "2012", "authors": "Vilardo E, Nachbagauer C, Buzet A, Taschner A, Holzmann J, Rossmanith W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "23042678", "url": "https://glygen.org/publication/PubMed/23042678" } ] }, { "title": "CDK5 regulatory subunit-associated protein 1-like 1 (CDKAL1) is a tail-anchored protein in the endoplasmic reticulum (ER) of insulinoma cells.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Brambillasca S, Altkrueger A, Colombo SF, Friederich A, Eickelmann P, Mark M, Borgese N, Solimena M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "23048041", "url": "https://glygen.org/publication/PubMed/23048041" } ] }, { "title": "Heterotrimeric GAIT complex drives transcript-selective translation inhibition in murine macrophages.", "journal": "Molecular and cellular biology", "date": "2012", "authors": "Arif A, Chatterjee P, Moodt RA, Fox PL", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "23071094", "url": "https://glygen.org/publication/PubMed/23071094" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "ATP-directed capture of bioactive herbal-based medicine on human tRNA synthetase.", "journal": "Nature", "date": "2013", "authors": "Zhou H, Sun L, Yang XL, Schimmel P", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "23263184", "url": "https://glygen.org/publication/PubMed/23263184" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "A human tRNA methyltransferase 9-like protein prevents tumour growth by regulating LIN9 and HIF1-alpha.", "journal": "EMBO molecular medicine", "date": "2013", "authors": "Begley U, Sosa MS, Avivar-Valderas A, Patil A, Endres L, Estrada Y, Chan CT, Su D, Dedon PC, Aguirre-Ghiso JA, Begley T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "23381944", "url": "https://glygen.org/publication/PubMed/23381944" } ] }, { "title": "Identification of direct targets and modified bases of RNA cytosine methyltransferases.", "journal": "Nature biotechnology", "date": "2013", "authors": "Khoddami V, Cairns BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "23604283", "url": "https://glygen.org/publication/PubMed/23604283" } ] }, { "title": "Conformational changes in human prolyl-tRNA synthetase upon binding of the substrates proline and ATP and the inhibitor halofuginone.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2013", "authors": "Son J, Lee EH, Park M, Kim JH, Kim J, Kim S, Jeon YH, Hwang KY", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "24100331", "url": "https://glygen.org/publication/PubMed/24100331" } ] }, { "title": "Human cells have a limited set of tRNA anticodon loop substrates of the tRNA isopentenyltransferase TRIT1 tumor suppressor.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "Lamichhane TN, Mattijssen S, Maraia RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "24126054", "url": "https://glygen.org/publication/PubMed/24126054" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.", "journal": "PLoS genetics", "date": "2013", "authors": "Igoillo-Esteve M, Genin A, Lambert N, Desir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "24204302", "url": "https://glygen.org/publication/PubMed/24204302" } ] }, { "title": "Reinvestigation of aminoacyl-tRNA synthetase core complex by affinity purification-mass spectrometry reveals TARSL2 as a potential member of the complex.", "journal": "PLoS ONE", "date": "2013", "authors": "Kim K, Park SJ, Na S, Kim JS, Choi H, Kim YK, Paek E, Lee C", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "24312579", "url": "https://glygen.org/publication/PubMed/24312579" } ] }, { "title": "Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.", "journal": "PLoS genetics", "date": "2014", "authors": "Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "24901367", "url": "https://glygen.org/publication/PubMed/24901367" } ] }, { "title": "The cytoplasmic and nuclear populations of the eukaryote tRNA-isopentenyl transferase have distinct functions with implications in human cancer.", "journal": "Gene", "date": "2015", "authors": "Smaldino PJ, Read DF, Pratt-Hyatt M, Hopper AK, Engelke DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "25261850", "url": "https://glygen.org/publication/PubMed/25261850" } ] }, { "title": "Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotes.", "journal": "RNA (New York, N.Y.)", "date": "2015", "authors": "Guy MP, Phizicky EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "25404562", "url": "https://glygen.org/publication/PubMed/25404562" } ] }, { "title": "Inosine modifications in human tRNAs are incorporated at the precursor tRNA level.", "journal": "Nucleic acids research", "date": "2015", "authors": "Torres AG, Pineyro D, Rodriguez-Escriba M, Camacho N, Reina O, Saint-Leger A, Filonava L, Batlle E, Ribas de Pouplana L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "25916855", "url": "https://glygen.org/publication/PubMed/25916855" } ] }, { "title": "NSUN6 is a human RNA methyltransferase that catalyzes formation of m5C72 in specific tRNAs.", "journal": "RNA (New York, N.Y.)", "date": "2015", "authors": "Haag S, Warda AS, Kretschmer J, Gunnigmann MA, Hobartner C, Bohnsack MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "26160102", "url": "https://glygen.org/publication/PubMed/26160102" } ] }, { "title": "Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.", "journal": "Human mutation", "date": "2015", "authors": "Guy MP, Shaw M, Weiner CL, Hobson L, Stark Z, Rose K, Kalscheuer VM, Gecz J, Phizicky EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "26310293", "url": "https://glygen.org/publication/PubMed/26310293" } ] }, { "title": "Assembly of Multi-tRNA Synthetase Complex via Heterotetrameric Glutathione Transferase-homology Domains.", "journal": "J. Biol. Chem.", "date": "2015", "authors": "Cho HY, Maeng SJ, Cho HJ, Choi YS, Chung JM, Lee S, Kim HK, Kim JH, Eom CY, Kim YG, Guo M, Jung HS, Kang BS, Kim S", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "26472928", "url": "https://glygen.org/publication/PubMed/26472928" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.", "journal": "Human genetics", "date": "2016", "authors": "Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "27055666", "url": "https://glygen.org/publication/PubMed/27055666" } ] }, { "title": "Global Analysis of O-GlcNAc Glycoproteins in Activated Human T Cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2016", "authors": "Lund PJ, Elias JE, Davis MM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "27655845", "url": "https://glygen.org/publication/PubMed/27655845" } ] }, { "title": "EPRS is a critical mTORC1-S6K1 effector that influences adiposity in mice.", "journal": "Nature", "date": "2017", "authors": "Arif A, Terenzi F, Potdar AA, Jia J, Sacks J, China A, Halawani D, Vasu K, Li X, Brown JM, Chen J, Kozma SC, Thomas G, Fox PL", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "iPTMnet", "id": "P07814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07814" } ], "reference": [ { "type": "PubMed", "id": "28178239", "url": "https://glygen.org/publication/PubMed/28178239" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" }, { "database": "O-GlcNAc Atlas", "id": "P07814", "url": "https://oglcnac.org/atlas/detail/P07814" }, { "database": "GlyGen", "id": "GLY_000142", "url": "https://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.", "journal": "American journal of human genetics", "date": "2018", "authors": "Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "29576217", "url": "https://glygen.org/publication/PubMed/29576217" } ] }, { "title": "Structural control of caspase-generated glutamyl-tRNA synthetase by appended noncatalytic WHEP domains.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Halawani D, Gogonea V, DiDonato JA, Pipich V, Yao P, China A, Topbas C, Vasu K, Arif A, Hazen SL, Fox PL", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" } ], "reference": [ { "type": "PubMed", "id": "29643180", "url": "https://glygen.org/publication/PubMed/29643180" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P07814", "url": "https://oglcnac.org/atlas/detail/P07814" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Glutamyl-Prolyl-tRNA Synthetase Regulates Proline-Rich Pro-Fibrotic Protein Synthesis During Cardiac Fibrosis.", "journal": "Circulation research", "date": "2020", "authors": "Wu J, Subbaiah KCV, Xie LH, Jiang F, Khor ES, Mickelsen D, Myers JR, Tang WHW, Yao P", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" } ], "reference": [ { "type": "PubMed", "id": "32611237", "url": "https://glygen.org/publication/PubMed/32611237" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers Endogenous Cotranslationally O-GlcNAc Modified Nascent Proteins.", "journal": "Journal of the American Chemical Society", "date": "2020", "authors": "Zhu Y, Willems LI, Salas D, Cecioni S, Wu WB, Foster LJ, Vocadlo DJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "32870666", "url": "https://glygen.org/publication/PubMed/32870666" } ] }, { "title": "The core region of human glutaminyl-tRNA synthetase homologies with the Escherichia coli and yeast enzymes.", "journal": "Nucleic acids research", "date": "1988-06-24", "authors": "Th\u00f6mmes P, Fett R, Schray B, Kunze N, Knippers R", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "3290852", "url": "https://glygen.org/publication/PubMed/3290852" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" }, { "database": "O-GlcNAc Atlas", "id": "P07814", "url": "https://oglcnac.org/atlas/detail/P07814" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Jin D, Wek SA, Kudlapur NT, Cantara WA, Bakhtina M, Wek RC, Musier-Forsyth K", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" } ], "reference": [ { "type": "PubMed", "id": "34537243", "url": "https://glygen.org/publication/PubMed/34537243" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07814", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07814" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Prolyl-tRNA synthetase as a novel therapeutic target in multiple myeloma.", "journal": "Blood cancer journal", "date": "2023-01-12", "authors": "Kurata Keiji, James-Bott Anna, Tye Mark A, Yamamoto Leona, Samur Mehmet K, Tai Yu-Tzu, Dunford James, Johansson Catrine, Senbabaoglu Filiz, Philpott Martin, Palmer Charlotte, Ramasamy Karthik, Gooding Sarah, Smilova Mihaela, Gaeta Giorgia, Guo Manman, Christianson John C, Payne N Connor, Singh Kritika, Karagoz Kubra, Stokes Matthew E, Ortiz Maria, Hagner Patrick, Thakurta Anjan, Cribbs Adam, Mazitschek Ralph, Hideshima Teru, Anderson Kenneth C, Oppermann Udo", "evidence": [ { "database": "RefSeq", "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437" } ], "reference": [ { "type": "PubMed", "id": "36631435", "url": "https://glygen.org/publication/PubMed/36631435" } ] }, { "title": "Control of fibrosis with enhanced safety via asymmetric inhibition of prolyl-tRNA synthetase 1.", "journal": "EMBO molecular medicine", "date": "2023-07-10", "authors": "Yoon Ina, Kim Sulhee, Cho Minjae, You Kyung Ah, Son Jonghyeon, Lee Caroline, Suh Ji Hun, Bae Da-Jeong, Kim Jong Min, Oh Sinae, Park Songhwa, Kim Sanga, Cho Seong Hyeok, Park Seonha, Bang Kyuhyeon, Seo Minjeong, Kim Jong Hyun, Lee Bongyong, Park Joon Seok, Hwang Kwang Yeon, Kim Sunghoon", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "reference": [ { "type": "PubMed", "id": "37212275", "url": "https://glygen.org/publication/PubMed/37212275" } ] }, { "title": "Studies on human erythrocyte inorganic pyrophosphatase.", "journal": "Annals of human genetics", "date": "1974", "authors": "Fisher RA, Turner BM, Dorkin HL, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "4130389", "url": "https://glygen.org/publication/PubMed/4130389" } ] }, { "title": "Purification and some properties of inorganic pyrophosphatase from human erythrocytes.", "journal": "The Journal of biological chemistry", "date": "1967", "authors": "Pynes GD, Younathan ES", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "6022858", "url": "https://glygen.org/publication/PubMed/6022858" } ] }, { "title": "Purification and kinetic properties of human erythrocyte Mg2+-dependent inorganic pyrophosphatase.", "journal": "Biochimica et biophysica acta", "date": "1978", "authors": "Thuillier L", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "656444", "url": "https://glygen.org/publication/PubMed/656444" } ] }, { "title": "Purification and subunit structure studies of human placental threonyl-tRNA synthetase.", "journal": "International journal of peptide and protein research", "date": "1982", "authors": "Pan F, Lee HH, Pai SH, Lo KY", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "7118399", "url": "https://glygen.org/publication/PubMed/7118399" } ] }, { "title": "Human alanyl-tRNA synthetase: conservation in evolution of catalytic core and microhelix recognition.", "journal": "Biochemistry", "date": "1995", "authors": "Shiba K, Ripmaster T, Suzuki N, Nichols R, Plotz P, Noda T, Schimmel P", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "7654687", "url": "https://glygen.org/publication/PubMed/7654687" } ] }, { "title": "Human cytoplasmic isoleucyl-tRNA synthetase: selective divergence of the anticodon-binding domain and acquisition of a new structural unit.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Shiba K, Suzuki N, Shigesada K, Namba Y, Schimmel P, Noda T", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "8052601", "url": "https://glygen.org/publication/PubMed/8052601" } ] }, { "title": "Evolution of the Glx-tRNA synthetase family: the glutaminyl enzyme as a case of horizontal gene transfer.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Lamour V, Quevillon S, Diriong S, N'Guyen VC, Lipinski M, Mirande M", "evidence": [ { "database": "Reactome", "id": "R-HSA-379716", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716" } ], "reference": [ { "type": "PubMed", "id": "8078941", "url": "https://glygen.org/publication/PubMed/8078941" } ] }, { "title": "The human EPRS locus (formerly the QARS locus): a gene encoding a class I and a class II aminoacyl-tRNA synthetase.", "journal": "Genomics", "date": "1994", "authors": "Kaiser E, Hu B, 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": "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": "Characterization of yeast protein Deg1 as pseudouridine synthase (Pus3) catalyzing the formation of psi 38 and psi 39 in tRNA anticodon loop.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lecointe F, Simos G, Sauer A, Hurt EC, Motorin Y, Grosjean H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "9430663", "url": "https://glygen.org/publication/PubMed/9430663" } ] }, { "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": "The essential Gcd10p-Gcd14p nuclear complex is required for 1-methyladenosine modification and maturation of initiator methionyl-tRNA.", "journal": "Genes & development", "date": "1998", "authors": "Anderson J, Phan L, Cuesta R, Carlson BA, Pak M, Asano K, Bjork GR, Tamame M, Hinnebusch AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "9851972", "url": "https://glygen.org/publication/PubMed/9851972" } ] } ], "pathway": [ { "id": "hsa:2058", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2058", "resource": "KEGG Pathway" }, { "id": "R-HSA-2408522", "name": "Selenoamino acid metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2408522", "resource": "Reactome", "description": "Selenoamino acid metabolism" }, { "id": "R-HSA-379716", "name": "Cytosolic tRNA aminoacylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379716", "resource": "Reactome", "description": "Cytosolic tRNA aminoacylation" }, { "id": "R-HSA-6782315", "name": "tRNA modification in the nucleus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315", "resource": "Reactome", "description": "tRNA modification in the nucleus and cytosol" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6GJ92-1", "protein_name": "Glutamyl-prolyl-tRNA synthetase", "gene_name": "Eprs1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAALCLTVNAGNPPLEALLAVEHVKGDVSISVEEGKENLLRVSESVVFTDTNSILRYLARVAATSGLYGSNLMEHTEIDHWLEFSATKLSSCDVLTSAIKELNHCLSLRTYLVGNSLTLADLCVWATLKGNAACQEHLRQSKTLVHVNRWYGFLEAQQAFRSVGTKWDASANKATGAPDRKQDIGKFVELPGAEMGKVTVRFPPEASGYLHIGHAKAALLNQHYQVNFKGKLIMRFDDTNPEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIEEGKAYVDDTPADEMKAEREQRIESRHRKNPVEKNLQMWEEMKRGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCKIQPHPRTGNKYNVYPTYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYIWEYSRLNLNNTVLSKRKLTWFVNEGLVDGWDDPRFPTVRGVLRRGMTVEGLKQFIAAQGSSRSVVNMEWDKIWAFNKKLRALCKKVIDPVAPRYVALLKKEVIPVNILDAQEEMKEVARHPKNPDVGLKPVWYSPKVFIEGADAETFSEGEMVTFINWGNINITKIHKNPDGKITSLDAKLNLENKDYKKTTKITWLAETTQALPVPAVCVTYEHLITKPVLGKDEDFKQYVNKDSKHEELMLGDPCLKDLKKGDIIQLQRRGFFICDQPYEPVSPYSCKEAPCILIYIPDGHTKEMPTSGSKEKTKVEISKKETGSAPKERPAAAVSAPCAAAEDAAILYSRVAVQGDAVRDLKAKKAPKEDIDAAVKQLLTLKAEYKEKTGQEYRPGNPPTAAVQTVSTKSPSNTGEYTSLYNKVAAQGELVRKLKAEKAPKAKINDAVECLLSLKAEYKEKTGKEYVPGQLPASQNSHSSPVSNAKPVGSETPEAKLLFDRVACQGEVVRKLKAEKASKDQVDSAVQELLQLKAQYKSLTGIEYKPVSATGAEDKDKKKKEKENKSEKQNKPQKQNDGQGKDSSKSQGSGLSSGGAGEGQGPKKQTRLGLEAKKEENLAEWYSQVITKSEMIEYYDVSGCYILRPWSYSIWESIKDFFDAEIKKLGVENCYFPIFVSQGALEKEKNHIADFAPEVAWVTRSGKTELAEPIAIRPTSETVMYPAYAKWVQSHRDLPIRLNQWCNVVRWEFKHPQPFLRTREFLWQEGHSAFATFEEAADEVLQILELYARVYEELLAIPVVRGRKTEKEKFAGGDYTTTLEAFISASGRAIQGATSHHLGQNFSKMCEIVFEDPKTPGEKQFAYQCSWGLTTRTIGVMIMVHGDNMGLVLPPRVASVQVVVIPCGITNTLSEEDREALMAKCNEYRRRLLGADIRARVDLRDNYSPGWKFNHWELKGVPVRLEVGPRDMKSCQFVAVRRDTGEKLTIAEKEAESKLKGVLEDIQLNLFTRASEDLKSHMVVSDTLEDFQKVLDSGKVAQIPFCGEIDCEDWIKKTTARDQDVEPGAPSMGAKSLCIPFNPLCELQPGAMCVCGKNPAKFYTLFGRSY", "length": 1519 }, "evidence": [ { "id": "45922587", "url": "http://www.informatics.jax.org/homology/45922587", "database": "MGI" }, { "id": "P07814", "url": "https://omabrowser.org/oma/group/P07814/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P28668-1", "protein_name": "Bifunctional glutamate/proline--tRNA ligase", "gene_name": "GluProRS", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSIKLKANLNNPPISGLATAHLINGTVPVEIVWSKEETSLQFPDNRLLVCHSNNDVLRALARAAPDYKLYGETAIERTQIDHWLSFSLTCEDDISWALSFLDKSIAPVTYLVANKLTIADFALFNEMHSRYEFLAAKGIPQHVQRWYDLITAQPLIQKVLQSLPEDAKVKRSPQSSKEQTPAKTGERKQEGKFVDLPGAEMGKVVVRFPPEASGYLHIGHAKAALLNQYYALAFQGTLIMRFDDTNPAKETVEFENVILGDLEQLQIKPDVFTHTSNYFDLMLDYCVRLIKESKAYVDDTPPEQMKLEREQRVESANRSNSVEKNLSLWEEMVKGSEKGQKYCVRAKIDMSSPNGCMRDPTIYRCKNEPHPRTGTKYKVYPTYDFACPIVDAIENVTHTLRTTEYHDRDDQFYWFIDALKLRKPYIWSYSRLNMTNTVLSKRKLTWFVDSGLVDGWDDPRFPTVRGIIRRGMTVEGLKEFIIAQGSSKSVVFMNWDKIWAFNKKVIDPIAPRYTALEKEKRVIVNVAGAKVERIQVSVHPKDESLGKKTVLLGPRIYIDYVDAEALKEGENATFINWGNILIRKVNKDASGNITSVDAALNLENKDFKKTLKLTWLAVEDDPSAYPPTFCVYFDNIISKAVLGKDEDFKQFIGHKTRDEVPMLGDPELKKCKKGDIIQLQRRGFFKVDVAYAPPSGYTNVPSPIVLFSIPDGHTKDVPTSGLKVNAPDAKATKKASSPVSSSGQASELDSQISQQGDLVRDLKSKKAAKDQIDVAVKKLLALKADYKSATGKDWKPGQTSASSAPVPAASSSSANDAVSVNASIVKQGDLVRDLKGKKASKPEIDAAVKTLLELKAQYKTLTGQDWKPGTVPTTAAPSASAAPSVGVNDSVAQILSQITAQGDKVRELKSAKADKATVDAAVKTLLSLKADYKAATGSDWKPGTTAPAPAAAPVKVKQEKNPDPASVLTVNTLLNKIAQQGDKIRQLKSAKSEKSLVEAEVKLLLALKTDYKSLTGQEWKPGTVAPAPTTVNVIDLTGGDSGSDVGSVLSKIQAQGDKIRKLKSEKAAKNVIDPEVKTLLALKGEYKTLSGKDWTPDAKSEPAVVKKEASPVSMASPAKDELTQEINAQGEKVRAAKGNKAAKEVIDAEVAKLLALKAKYKEVTGTDFPVAGRGGGGGGGSAKKAPKEAQPKPAKPVKKEPAADASGAVKKQTRLGLEATKEDNLPDWYSQVITKGEMIEYYDVSGCYILRQWSFAIWKAIKTWFDAEITRMGVKECYFPIFVSKAVLEKEKTHIADFAPEVAWVTKSGDSDLAEPIAVRPTSETVMYPAYAKWVQSYRDLPIRLNQWNNVVRWEFKQPTPFLRTREFLWQEGHTAFADKEEAAKEVLDILDLYALVYTHLLAIPVVKGRKTEKEKFAGGDYTTTVEAFISASGRAIQGATSHHLGQNFSKMFEIVYEDPETQQKKYVYQNSWGITTRTIGVMIMVHADNQGLVLPPHVACIQAIVVPCGITVNTKDDERAQLLDACKALEKRLVGGGVRCEGDYRDNYSPGWKFNHWELKGVPLRLEVGPKDLKAQQLVAVRRDTVEKITIPLADVEKKIPALLETIHESMLNKAQEDMTSHTKKVTNWTDFCGFLEQKNILLAPFCGEISCEDKIKADSARGEEAEPGAPAMGAKSLCIPFDQPAPIAASDKCINPSCTNKPKFYTLFGRSY", "length": 1714 }, "evidence": [ { "id": "P07814", "url": "https://omabrowser.org/oma/group/P07814/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q8CGC7-1", "protein_name": "Bifunctional glutamate/proline--tRNA ligase", "gene_name": "Eprs1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAALCLTVNAGNPPLEALLAVEHVKGDVSISVEEGKENLLRVSETVAFTDVNSILRYLARIATTSGLYGTNLMEHTEIDHWLEFSATKLSSCDRLTSAINELNHCLSLRTYLVGNSLTLADLCVWATLKGSAAWQEHLKQNKTLVHVKRWFGFLEAQQAFRSVGTKWDVSGNRATVAPDKKQDVGKFVELPGAEMGKVTVRFPPEASGYLHIGHAKAALLNQHYQVNFKGKLIMRFDDTNPEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIQEGKAYVDDTPAEQMKAEREQRTESKHRKNSVEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCKIQPHPRTGNKYNVYPTYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYIWEYSRLNLNNTVLSKRKLTWFVNEGLVDGWDDPRFPTVRGVLRRGMTVEGLKQFIAAQGSSRSVVNMEWDKIWAFNKKVIDPVAPRYVALLKKEVVPVNVLDAQEEMKEVARHPKNPDVGLKPVWYSPKVFIEGADAETFSEGEMVTFINWGNINITKIHKNADGKITSLDAKLNLENKDYKKTTKITWLAESTHALSIPAVCVTYEHLITKPVLGKDEDFKQYINKDSKHEELMLGDPCLKDLKKGDIIQLQRRGFFICDQPYEPVSPYSCREAPCILIYIPDGHTKEMPTSGSKEKTKVEISKKETSSAPKERPAPAVSSTCATAEDSSVLYSRVAVQGDVVRELKAKKAPKEDIDAAVKQLLTLKAEYKEKTGQEYKPGNPSAAAVQTVSTKSSSNTVESTSLYNKVAAQGEVVRKLKAEKAPKAKVTEAVECLLSLKAEYKEKTGKDYVPGQPPASQNSHSNPVSNAQPAGAEKPEAKVLFDRVACQGEVVRKLKAEKASKDQVDSAVQELLQLKAQYKSLTGIEYKPVSATGAEDKDKKKKEKENKSEKQNKPQKQNDGQGKDSSKSQGSGLSSGGAGEGQGPKKQTRLGLEAKKEENLAEWYSQVITKSEMIEYYDVSGCYILRPWSYSIWESIKDFFDAEIKKLGVENCYFPIFVSQAALEKEKNHIEDFAPEVAWVTRSGKTELAEPIAIRPTSETVMYPAYAKWVQSHRDLPVRLNQWCNVVRWEFKHPQPFLRTREFLWQEGHSAFATFEEAADEVLQILELYARVYEELLAIPVVRGRKTEKEKFAGGDYTTTIEAFISASGRAIQGATSHHLGQNFSKMCEIVFEDPKTPGEKQFAYQCSWGLTTRTIGVMVMVHGDNMGLVLPPRVASVQVVVIPCGITNALSEEDREALMAKCNEYRRRLLGANIRVRVDLRDNYSPGWKFNHWELKGVPVRLEVGPRDMKSCQFVAVRRDTGEKLTIAEKEAEAKLEKVLEDIQLNLFTRASEDLKTHMVVSNTLEDFQKVLDAGKVAQIPFCGEIDCEDWIKKMTARDQDVEPGAPSMGAKSLCIPFNPLCELQPGAMCVCGKNPAKFYTLFGRSY", "length": 1512 }, "evidence": [ { "id": "45922587", "url": "http://www.informatics.jax.org/homology/45922587", "database": "MGI" }, { "id": "P07814", "url": "https://omabrowser.org/oma/group/P07814/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "aminoacyl-tRNA synthetase multienzyme complex", "id": "GO:0017101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017101", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "GAIT complex", "id": "GO:0097452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097452", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "positive regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043517", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "glutamyl-tRNA aminoacylation", "id": "GO:0006424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006424", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "prolyl-tRNA aminoacylation", "id": "GO:0006433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006433", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "tRNA aminoacylation for protein translation", "id": "GO:0006418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006418", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "regulation of long-chain fatty acid import into cell", "id": "GO:0140212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140212", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "glutamate-tRNA ligase activity", "id": "GO:0004818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004818", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "proline-tRNA ligase activity", "id": "GO:0004827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004827", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" }, { "name": "RNA stem-loop binding", "id": "GO:0035613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035613", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1247, "end_pos": 1249, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1348, "end_pos": 1350, "annotation": "n_glycosylation_sequon" }, { "start_pos": 429, "end_pos": 431, "annotation": "n_glycosylation_sequon" }, { "start_pos": 575, "end_pos": 577, "annotation": "n_glycosylation_sequon" }, { "start_pos": 726, "end_pos": 728, "annotation": "n_glycosylation_sequon" }, { "start_pos": 743, "end_pos": 745, "annotation": "n_glycosylation_sequon" }, { "start_pos": 811, "end_pos": 813, "annotation": "n_glycosylation_sequon" }, { "start_pos": 815, "end_pos": 817, "annotation": "n_glycosylation_sequon" }, { "start_pos": 970, "end_pos": 972, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated at Ser-886 by CDK5 (PubMed:19647514, PubMed:21220307). Phosphorylated at Ser-999 by RPS6KB1; triggers EPRS1 release from the aminoacyl-tRNA synthetase multienzyme complex (PubMed:19647514, PubMed:21220307, PubMed:28178239). In monocytes, the IFN-gamma-induced sequential phosphorylation at Ser-886 and Ser-999 releases EPRS1 from the aminoacyl-tRNA synthetase multienzyme complex, allowing its association with the GAIT complex. Phosphorylation at Ser-999 is specifically required for the RPL13A-mediated interaction of the GAIT complex with eIF4G (PubMed:19647514, PubMed:21220307). Phosphorylation at Ser-999 by RPS6KB1, is also induced by insulin through activation of the mTORC1 signaling pathway and promotes the interaction of EPRS1 with SLC27A1 (PubMed:28178239).", "evidence": [ { "database": "UniProtKB", "id": "P07814", "url": "https://www.uniprot.org/uniprot/P07814" }, { "database": "PubMed", "id": "19647514", "url": "https://glygen.org/publication/PubMed/19647514" }, { "database": "PubMed", "id": "21220307", "url": "https://glygen.org/publication/PubMed/21220307" }, { "database": "PubMed", "id": "28178239", "url": "https://glygen.org/publication/PubMed/28178239" } ] } ], "interactions": [], "reactions": [ { "id": "14305", "name": "", "equation": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5M7W7-1", "A0A8I6GJ92-1", "P07814-1", "Q7L3T8-1", "Q8CGC7-1", "Q8CFI5-1", "P38708-1", "P39965-1", "Q54Q07-1", "Q75JK9-1", "P28668-1", "Q9VZY9-1" ], "evidence": [ { "id": "14305", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14305" } ] }, { "id": "23540", "name": "", "equation": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A0A8I6GJ92-1", "M0RAI4-1", "P07814-1", "Q5JPH6-1", "Q9CXJ1-1", "Q8CGC7-1", "P46655-1", "P48525-1", "Q54KB8-1", "Q869Z3-1", "P28668-1", "Q9VV59-1" ], "evidence": [ { "id": "23540", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23540" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6GJ92", "gene_name": "Eprs1", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "A0A8I6GJ92", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GJ92" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "A0A8I6GJ92", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GJ92" } ] } ] }, { "uniprot_ac": "M0RAI4", "gene_name": "Ears2", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "M0RAI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0RAI4" } ] }, { "ec_number": "6.1.1.17", "activity": "", "evidence": [ { "id": "M0RAI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0RAI4" } ] } ] }, { "uniprot_ac": "P07814", "gene_name": "EPRS1", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "P07814", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07814" } ] }, { "ec_number": "6.1.1.17", "activity": "", "evidence": [ { "id": "P07814", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07814" } ] }, { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "P07814", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07814" } ] } ] }, { "uniprot_ac": "P28668", "gene_name": "GluProRS", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "P28668", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28668" } ] }, { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "P28668", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28668" } ] } ] }, { "uniprot_ac": "P38708", "gene_name": "", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "P38708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38708" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "P38708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38708" } ] } ] }, { "uniprot_ac": "P39965", "gene_name": "AIM10", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "P39965", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39965" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "P39965", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39965" } ] } ] }, { "uniprot_ac": "P46655", "gene_name": "GUS1", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "P46655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46655" } ] }, { "ec_number": "6.1.1.17", "activity": "", "evidence": [ { "id": "P46655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46655" } ] } ] }, { "uniprot_ac": "P48525", "gene_name": "MSE1", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "P48525", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48525" } ] }, { "ec_number": "6.1.1.17", "activity": "", "evidence": [ { "id": "P48525", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48525" } ] } ] }, { "uniprot_ac": "Q54KB8", "gene_name": "gluS", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "Q54KB8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KB8" } ] }, { "ec_number": "6.1.1.17", "activity": "", "evidence": [ { "id": "Q54KB8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KB8" } ] } ] }, { "uniprot_ac": "Q54Q07", "gene_name": "proS", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "Q54Q07", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54Q07" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "Q54Q07", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54Q07" } ] } ] }, { "uniprot_ac": "Q5JPH6", "gene_name": "EARS2", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "Q5JPH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5JPH6" } ] }, { "ec_number": "6.1.1.17", "activity": "", "evidence": [ { "id": "Q5JPH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5JPH6" } ] }, { "ec_number": "6.1.1.24", "activity": "ATP + L-glutamate + tRNA(Glx) = AMP + diphosphate + L-glutamyl-tRNA(Glx).", "evidence": [ { "id": "Q5JPH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5JPH6" } ] }, { "ec_number": "6.1.1.24", "activity": "", "evidence": [ { "id": "Q5JPH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5JPH6" } ] } ] }, { "uniprot_ac": "Q5M7W7", "gene_name": "Pars2", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "Q5M7W7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5M7W7" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "Q5M7W7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5M7W7" } ] } ] }, { "uniprot_ac": "Q75JK9", "gene_name": "mproS", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "Q75JK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q75JK9" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "Q75JK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q75JK9" } ] } ] }, { "uniprot_ac": "Q7L3T8", "gene_name": "PARS2", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "Q7L3T8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7L3T8" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "Q7L3T8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7L3T8" } ] } ] }, { "uniprot_ac": "Q869Z3", "gene_name": "mgluS", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "Q869Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q869Z3" } ] }, { "ec_number": "6.1.1.17", "activity": "", "evidence": [ { "id": "Q869Z3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q869Z3" } ] } ] }, { "uniprot_ac": "Q8CFI5", "gene_name": "Pars2", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "Q8CFI5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CFI5" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "Q8CFI5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CFI5" } ] } ] }, { "uniprot_ac": "Q8CGC7", "gene_name": "Eprs1", "activity": [ { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "Q8CGC7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CGC7" } ] }, { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "Q8CGC7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CGC7" } ] } ] }, { "uniprot_ac": "Q9CXJ1", "gene_name": "Ears2", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "Q9CXJ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CXJ1" } ] }, { "ec_number": "6.1.1.24", "activity": "ATP + L-glutamate + tRNA(Glx) = AMP + diphosphate + L-glutamyl-tRNA(Glx).", "evidence": [ { "id": "Q9CXJ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CXJ1" } ] }, { "ec_number": "6.1.1.24", "activity": "", "evidence": [ { "id": "Q9CXJ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CXJ1" } ] } ] }, { "uniprot_ac": "Q9VV59", "gene_name": "GluRS-m", "activity": [ { "ec_number": "6.1.1.17", "activity": "ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).", "evidence": [ { "id": "Q9VV59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VV59" } ] }, { "ec_number": "6.1.1.17", "activity": "", "evidence": [ { "id": "Q9VV59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VV59" } ] } ] }, { "uniprot_ac": "Q9VZY9", "gene_name": "ProRS-m", "activity": [ { "ec_number": "6.1.1.14", "activity": "ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly).", "evidence": [ { "id": "Q9VZY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VZY9" } ] }, { "ec_number": "6.1.1.15", "activity": "ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).", "evidence": [ { "id": "Q9VZY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VZY9" } ] }, { "ec_number": "6.1.1.15", "activity": "", "evidence": [ { "id": "Q9VZY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VZY9" } ] } ] } ], "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": [ 613, 631, 728, 745, 746, 891, 898, 1083 ], "snv_sites": [ 27, 73, 133, 168, 521, 575, 602, 613, 631, 647, 728, 745, 746, 891, 898, 984, 1025, 1119, 1340, 1397, 1459 ], "glycation_sites": [], "phosphorylation_sites": [ 57, 355, 434, 713, 747, 813, 814, 819, 845, 872, 880, 882, 883, 885, 886, 888, 891, 898, 998, 999, 1000, 1012, 1121, 1336, 1350 ], "sequon_annotation_sites": [ { "start_pos": 1247, "end_pos": 1249 }, { "start_pos": 1348, "end_pos": 1350 }, { "start_pos": 429, "end_pos": 431 }, { "start_pos": 575, "end_pos": 577 }, { "start_pos": 726, "end_pos": 728 }, { "start_pos": 743, "end_pos": 745 }, { "start_pos": 811, "end_pos": 813 }, { "start_pos": 815, "end_pos": 817 }, { "start_pos": 970, "end_pos": 972 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 10 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "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_automatic_literature_mining", "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 26 }, { "field": "total_sites", "count": 25 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 24 }, { "field": "total_sites", "count": 21 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 16 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 135 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }