{ "uniprot_canonical_ac": "P00367-1", "uniprot_ac": "P00367", "uniprot_id": "DHE3_HUMAN", "mass": { "chemical_mass": 61398.0, "monoisotopic_mass": 61398.0 }, "refseq": { "ac": "NP_001305829", "name": "glutamate dehydrogenase 1, mitochondrial isoform b", "summary": "This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829" }, "gene_names": [ { "name": "GLUD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00367", "id": "P00367" }, { "name": "GDH; GDH1; GLUD; hGDH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829", "id": "NP_001305829" }, { "name": "GLUD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829", "id": "NP_001305829" }, { "name": "GLUD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00367", "id": "P00367" } ], "protein_names": [ { "name": "Glutamate dehydrogenase 1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00367" }, { "name": "1.4.1.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00367" }, { "name": "GDH 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00367" }, { "name": "glutamate dehydrogenase 1, mitochondrial isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829", "id": "NP_001305829" }, { "name": "glutamate dehydrogenase 1, mitochondrial; glutamate dehydrogenase (NAD(P)+); epididymis tissue sperm binding protein Li 18mP; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829", "id": "NP_001305829" } ], "function": [ { "annotation": "Bioinformatics analysis identifies GLUD1 as a prognostic indicator for clear cell renal cell carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001305829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829" }, { "database": "PubMed", "id": "38245763", "url": "https://glygen.org/publication/PubMed/38245763" } ] }, { "annotation": "Glutamate dehydrogenase1 supports HIF-1alpha stability to promote colorectal tumorigenesis under hypoxia.", "evidence": [ { "database": "RefSeq", "id": "NP_001305829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829" }, { "database": "PubMed", "id": "37092319", "url": "https://glygen.org/publication/PubMed/37092319" } ] }, { "annotation": "Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (PubMed:11032875, PubMed:16959573, PubMed:11254391, PubMed:16023112). Plays a role in insulin homeostasis (PubMed:9571255, PubMed:11297618). May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367#function" }, { "database": "PubMed", "id": "11254391", "url": "https://glygen.org/publication/PubMed/11254391" }, { "database": "PubMed", "id": "16023112", "url": "https://glygen.org/publication/PubMed/16023112" }, { "database": "UniProtKB", "id": "P10860", "url": "https://www.uniprot.org/uniprot/P10860#function" }, { "database": "PubMed", "id": "11297618", "url": "https://glygen.org/publication/PubMed/11297618" }, { "database": "PubMed", "id": "16959573", "url": "https://glygen.org/publication/PubMed/16959573" }, { "database": "PubMed", "id": "11032875", "url": "https://glygen.org/publication/PubMed/11032875" }, { "database": "PubMed", "id": "9571255", "url": "https://glygen.org/publication/PubMed/9571255" } ] }, { "annotation": "This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001305829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829" } ] } ], "disease": [ { "disease_id": "DOID:0070217", "recommended_name": { "id": "DOID:0070217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070217", "name": "familial hyperinsulinemic hypoglycemia 6", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3." }, "synonyms": [ { "id": "DOID:0070217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070217", "name": "HHF6", "description": "" }, { "id": "DOID:0070217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070217", "name": "HI/HA syndrome", "description": "" }, { "id": "DOID:0070217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070217", "name": "hyperinsulinism-hyperammonemia syndrome", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "hyperinsulinism-hyperammonemia syndrome", "description": "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "GDH hyperinsulinism", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "GLUD1 hyperinsulinism", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "glutamate dehydrogenase 1 hyperinsulinism", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "hi/HA syndrome", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "hyperinsulinemic hypoglycemia, familial, type 6", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "hyperinsulinism-hyperammonemia syndrome", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "hyperinsulinism/hyperammonemia syndrome", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "HA/hi syndrome", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "HHF6", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "hyperinsulinemic hypoglycemia familial 6", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "hyperinsulinemic hypoglycemia, familial, 6", "description": "" }, { "id": "MONDO:0011717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011717", "name": "hyperinsulinism hyperammonemia syndrome", "description": "" }, { "id": "MIM:606762", "resource": "MIM", "url": "https://www.omim.org/entry/606762", "name": "Hyperinsulinemic hypoglycemia, familial, 6", "description": "Hyperinsulinemic hypoglycemia, familial, 6" } ], "evidence": [ { "id": "606762", "database": "MIM", "url": "https://www.omim.org/entry/606762" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 501, "end_pos": 501, "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces activity and inhibition by GTP.", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" }, { "database": "PubMed", "id": "11903050", "url": "https://glygen.org/publication/PubMed/11903050" } ] }, { "start_pos": 516, "end_pos": 516, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes activation by ADP.", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" }, { "database": "PubMed", "id": "11903050", "url": "https://glygen.org/publication/PubMed/11903050" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "91.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148672", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148672" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "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 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"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, 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"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 - 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"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", 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"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 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"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": "P00367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P00367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "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": "P00367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P00367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P00367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "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": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P00367", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00367" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"id": "PTHR11606:SF13", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11606:SF13", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1L1F", "url": "https://www.rcsb.org/structure/1L1F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1NR1", "url": "https://www.rcsb.org/structure/1NR1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6DQG", "url": "https://www.rcsb.org/structure/6DQG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UZM", "url": "https://www.rcsb.org/structure/7UZM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00208", "url": "http://pfam.xfam.org/family/PF00208", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02812", "url": "http://pfam.xfam.org/family/PF02812", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P00367", "url": "https://pharos.nih.gov/targets/P00367", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P00367", "url": "http://purl.obolibrary.org/obo/PR_P00367", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001305829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305829", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "11612", "url": "https://www.rhea-db.org/rhea/11612", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "15133", "url": "https://www.rhea-db.org/rhea/15133", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A804HHS2", "url": "https://www.uniprot.org/uniprot/A0A804HHS2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HHS2-1", "url": "https://www.uniprot.org/uniprot/A0A804HHS2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HHU3", "url": "https://www.uniprot.org/uniprot/A0A804HHU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HHU3-1", "url": "https://www.uniprot.org/uniprot/A0A804HHU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIA0", "url": "https://www.uniprot.org/uniprot/A0A804HIA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIA0-1", "url": "https://www.uniprot.org/uniprot/A0A804HIA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJD7", "url": "https://www.uniprot.org/uniprot/A0A804HJD7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJD7-1", "url": "https://www.uniprot.org/uniprot/A0A804HJD7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJH3", "url": "https://www.uniprot.org/uniprot/A0A804HJH3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJH3-1", "url": "https://www.uniprot.org/uniprot/A0A804HJH3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJZ0", "url": "https://www.uniprot.org/uniprot/A0A804HJZ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJZ0-1", "url": "https://www.uniprot.org/uniprot/A0A804HJZ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKE0", "url": "https://www.uniprot.org/uniprot/A0A804HKE0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKE0-1", "url": "https://www.uniprot.org/uniprot/A0A804HKE0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HLC0", "url": "https://www.uniprot.org/uniprot/A0A804HLC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HLC0-1", "url": "https://www.uniprot.org/uniprot/A0A804HLC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00367-1", "url": "https://www.uniprot.org/uniprot/P00367-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00367-2", "url": "https://www.uniprot.org/uniprot/P00367-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00367-3", "url": "https://www.uniprot.org/uniprot/P00367-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADREDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFGDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT", "length": 558, "header": "sp|P00367-1|DHE3_HUMAN Isoform 1 of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=2 CANONICAL=P00367-1" }, "isoforms": [ { "isoform_ac": "A0A804HHS2-1", "url": "", "sequence": { "sequence": "MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADREDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGVTTCT", "length": 153, "header": "tr|A0A804HHS2-1|A0A804HHS2_HUMAN Computationally mapped isoform of Glutamate dehydrogenase 1 OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=1 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87094769, "end_pos": 87091610, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682622.1", "url": "https://www.ensembl.org/id/ENST00000682622.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506732.1", "url": "https://www.ensembl.org/id/ENSP00000506732.1" } ] } }, { "isoform_ac": "A0A804HHU3-1", "url": "", "sequence": { "sequence": "GILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGDAQLSPVFISRSSANSLKQLVYHSLGRN", "length": 73, "header": "tr|A0A804HHU3-1|DHE3_HUMAN Computationally mapped isoform of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=1 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87094460, "end_pos": 87089779, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682396.1", "url": "https://www.ensembl.org/id/ENST00000682396.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506764.1", "url": "https://www.ensembl.org/id/ENSP00000506764.1" } ] } }, { "isoform_ac": "A0A804HIA0-1", "url": "", "sequence": { "sequence": "DDGSWEVIEGYRAQHSQHRTPCKGEAEINTDSSVHYQVGIVNM", "length": 43, "header": "tr|A0A804HIA0-1|DHE3_HUMAN Computationally mapped isoform of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=1 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87094397, "end_pos": 87089733, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684032.1", "url": "https://www.ensembl.org/id/ENST00000684032.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506969.1", "url": "https://www.ensembl.org/id/ENSP00000506969.1" } ] } }, { "isoform_ac": "A0A804HJD7-1", "url": "", "sequence": { "sequence": "MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADREDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFGDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARVCVQMLFAFQLVT", "length": 532, "header": "tr|A0A804HJD7-1|A0A804HJD7_HUMAN Computationally mapped isoform of Glutamate dehydrogenase OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=1 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87094769, "end_pos": 87053303, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684338.1", "url": "https://www.ensembl.org/id/ENST00000684338.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507457.1", "url": "https://www.ensembl.org/id/ENSP00000507457.1" } ] } }, { "isoform_ac": "A0A804HJH3-1", "url": "", "sequence": { "sequence": "XPGIDVPAPDMSTGEREMSWIADTYASTIGHYDQGSPLC", "length": 39, "header": "tr|A0A804HJH3-1|DHE3_HUMAN Computationally mapped isoform of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=1 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87068157, "end_pos": 87067821, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684434.1", "url": "https://www.ensembl.org/id/ENST00000684434.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507505.1", "url": "https://www.ensembl.org/id/ENSP00000507505.1" } ] } }, { "isoform_ac": "A0A804HJZ0-1", "url": "", "sequence": { "sequence": "XGQPAAAPQPGLALAARRHYSEAVADREDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTVLALMCLLQT", "length": 171, "header": "tr|A0A804HJZ0-1|DHE3_HUMAN Computationally mapped isoform of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=1 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87094668, "end_pos": 87068126, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682833.1", "url": "https://www.ensembl.org/id/ENST00000682833.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507701.1", "url": "https://www.ensembl.org/id/ENSP00000507701.1" } ] } }, { "isoform_ac": "A0A804HKE0-1", "url": "", "sequence": { "sequence": "MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADREDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFGDKTFVVQIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT", "length": 466, "header": "tr|A0A804HKE0-1|DHE3_HUMAN Computationally mapped isoform of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=1 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87094769, "end_pos": 87051754, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684201.1", "url": "https://www.ensembl.org/id/ENST00000684201.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507887.1", "url": "https://www.ensembl.org/id/ENSP00000507887.1" } ] } }, { "isoform_ac": "A0A804HLC0-1", "url": "", "sequence": { "sequence": "XIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGVTTCT", "length": 47, "header": "tr|A0A804HLC0-1|DHE3_HUMAN Computationally mapped isoform of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=1 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87094450, "end_pos": 87091609, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683022.1", "url": "https://www.ensembl.org/id/ENST00000683022.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508288.1", "url": "https://www.ensembl.org/id/ENSP00000508288.1" } ] } }, { "isoform_ac": "P00367-1", "url": "", "sequence": { "sequence": "MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADREDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFGDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT", "length": 558, "header": "sp|P00367-1|DHE3_HUMAN Isoform 1 of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=2 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87094769, "end_pos": 87051754, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000277865.5", "url": "https://www.ensembl.org/id/ENST00000277865.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000277865.4", "url": "https://www.ensembl.org/id/ENSP00000277865.4" } ] } }, { "isoform_ac": "P00367-2", "url": "", "sequence": { "sequence": "MTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFGDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT", "length": 391, "header": "sp|P00367-2|DHE3_HUMAN Isoform 2 of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=2 CANONICAL=P00367-1" }, "locus": { "chromosome": "10", "start_pos": 87076600, "end_pos": 87051754, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684372.1", "url": "https://www.ensembl.org/id/ENST00000684372.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508244.1", "url": "https://www.ensembl.org/id/ENSP00000508244.1" } ] } }, { "isoform_ac": "P00367-3", "url": "", "sequence": { "sequence": "MTCPCDNASSVFLGFCIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFGDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT", "length": 425, "header": "sp|P00367-3|DHE3_HUMAN Isoform 3 of Glutamate dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=GLUD1 PE=1 SV=2 CANONICAL=P00367-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P00367", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00367" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" } ] } ], "phosphorylation": [ { "start_pos": 128, "end_pos": 128, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" }, { "database": "iPTMnet", "id": "P00367", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00367" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser128" }, { "start_pos": 135, "end_pos": 135, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "site_lbl": "Tyr135" }, { "start_pos": 227, "end_pos": 227, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P00367", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00367" } ], "site_lbl": "Ser227" }, { "start_pos": 384, "end_pos": 384, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": 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European patients with the congenital hyperinsulinism-hyperammonemia syndrome.", "journal": "Human genetics", "date": "2001", "authors": "Santer R, Kinner M, Passarge M, Superti-Furga A, Mayatepek E, Meissner T, Schneppenheim R, Schaub J", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "reference": [ { "type": "PubMed", "id": "11214910", "url": "https://glygen.org/publication/PubMed/11214910" } ] }, { "title": "Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Smith TJ, Peterson PE, Schmidt T, Fang J, Stanley CA", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "reference": [ { "type": "PubMed", "id": "11254391", "url": "https://glygen.org/publication/PubMed/11254391" } ] }, { "title": "Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM, Ganguly A, Smith TJ, Stanley CA", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "reference": [ { "type": "PubMed", "id": "11297618", "url": "https://glygen.org/publication/PubMed/11297618" } ] }, { "title": "Pgc-1-related coactivator, a novel, serum-inducible coactivator of nuclear respiratory factor 1-dependent transcription in mammalian cells.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Andersson U, Scarpulla RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "11340167", "url": 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"date": "1998", "authors": "Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "reference": [ { "type": "PubMed", "id": "9571255", "url": "https://glygen.org/publication/PubMed/9571255" } ] } ], "pathway": [ { "id": "hsa:2746", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2746", "resource": "KEGG Pathway" }, { "id": "R-HSA-2151201", "name": "Transcriptional activation of mitochondrial biogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201", "resource": "Reactome", "description": "Transcriptional activation of mitochondrial biogenesis" }, { "id": "R-HSA-8964539", "name": "Glutamate and glutamine metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539", "resource": "Reactome", "description": "Glutamate and glutamine metabolism" }, { "id": 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"OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P10860-1", "protein_name": "Glutamate dehydrogenase 1, mitochondrial", "gene_name": "Glud1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MYRRLGEVLLLSRAGPAALGSAAADSAALLGWARGQPSAVPQPGLTPVARRHYSEAATDREDDPNFFKMVEGFFDRGASIVEDKLVEDLKTRENEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGLGDKTFVVQGFGNVGLHSMRYLHRFGAKCVGVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKVYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPVVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT", "length": 558 }, "evidence": [ { "id": "45929355", "url": "http://www.informatics.jax.org/homology/45929355", "database": "MGI" }, { "id": "P00367", "url": "https://omabrowser.org/oma/group/P00367/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P26443-1", "protein_name": "Glutamate dehydrogenase 1, mitochondrial", "gene_name": "Glud1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MYRRLGEALLLSRAGPAALGSAAADSAALLGWARGQPSAAPQPGLTPVARRHYSEAAADREDDPNFFKMVEGFFDRGASIVEDKLVEDLKTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFGDKTFVVQGFGNVGLHSMRYLHRFGAKCVGVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKVYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPVVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT", "length": 558 }, "evidence": [ { "id": "45929355", "url": "http://www.informatics.jax.org/homology/45929355", "database": "MGI" }, { "id": "P00367", "url": "https://omabrowser.org/oma/group/P00367/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P49448-1", "protein_name": "Glutamate dehydrogenase 2, mitochondrial", "gene_name": "GLUD2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MYRYLAKALLPSRAGPAALGSAANHSAALLGRGRGQPAAASQPGLALAARRHYSELVADREDDPNFFKMVEGFFDRGASIVEDKLVKDLRTQESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTENELEKITRRFTMELAKKGFIGPGVDVPAPDMNTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFRDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEVDCDILIPAATEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNILVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLLSVQESLERKFGKHGGTIPIVPTAEFQDSISGASEKDIVHSALAYTMERSARQIMHTAMKYNLGLDLRTAAYVNAIEKVFKVYSEAGVTFT", "length": 558 }, "evidence": [ { "id": "45929355", "url": "http://www.informatics.jax.org/homology/45929355", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P54385-1", "protein_name": "Glutamate dehydrogenase, mitochondrial", "gene_name": "Gdh", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MYHLKSLARQGARRQQELATLAKALPTAVMQSSRGYATEHQIPDRLKDVPTAKDPRFFDMVEYFFHRGCQIAEESLVDDMKGKLTRDEKKQKVKGILMLMQPCDHIIEIAFPLRRDAGNYEMITGYRAQHSTHKTPTKGGIRFSLDVSRDEVKALSALMTFKCACVDVPFGGAKAGLKINPKEYSEHELEKITRRFTLELAKKGFIGPGVDVPAPDMGTGEREMSWIADTYAKTIGHLDINAHACVTGKPINQGGIHGRVSATGRGVFHGLENFINEANYMSQIGTTPGWGGKTFIVQGFGNVGLHTTRYLTRAGATCIGVIEHDGTLYNPEGIDPKLLEDYKNEHGTIVGYQNAKPYEGENLMFEKCDIFIPAAVEKVITSENANRIQAKIIAEAANGPTTPAADKILIDRNILVIPDLYINAGGVTVSFFEWLKNLNHVSYGRLTFKYERESNYHLLASVQQSIERIINDESVQESLERRFGRVGGRIPVTPSESFQKRISGASEKDIVHSGLDYTMERSARAIMKTAMKYNLGLDLRTAAYVNSIEKIFTTYRDAGLAF", "length": 562 }, "evidence": [ { "id": "P00367", "url": "https://omabrowser.org/oma/group/P00367/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 12, "go_terms": [ { "name": "oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor", "id": "GO:0016639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016639", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "glutamate dehydrogenase (NAD+) activity", "id": "GO:0004352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004352", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "glutamate dehydrogenase [NAD(P)+] activity", "id": "GO:0004353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004353", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "leucine binding", "id": "GO:0070728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070728", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "glutamate dehydrogenase (NADP+) activity", "id": "GO:0004354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004354", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "amino acid metabolic process", "id": "GO:0006520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006520", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "substantia nigra development", "id": "GO:0021762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021762", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "glutamate biosynthetic process", "id": "GO:0006537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006537", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "glutamate catabolic process", "id": "GO:0006538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006538", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" }, { "name": "tricarboxylic acid metabolic process", "id": "GO:0072350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072350", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 192, "end_pos": 194, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (PubMed:16959573). Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer (PubMed:16023112).", "evidence": [ { "database": "UniProtKB", "id": "P00367", "url": "https://www.uniprot.org/uniprot/P00367" }, { "database": "PubMed", "id": "16023112", "url": "https://glygen.org/publication/PubMed/16023112" }, { "database": "PubMed", "id": "16959573", "url": "https://glygen.org/publication/PubMed/16959573" } ] } ], "interactions": [], "reactions": [ { "id": "11612", "name": "", "equation": "H2O + L-glutamate + NADP(+) = 2-oxoglutarate + H(+) + NADPH + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10860-1", "P49448-1", "P00367-1", "P26443-1", "P07262-1", "P39708-1", "Q54KB7-1", "P54385-1" ], "evidence": [ { "id": "11612", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11612" } ] }, { "id": "15133", "name": "", "equation": "H2O + L-glutamate + NAD(+) = 2-oxoglutarate + H(+) + NADH + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10860-1", "P49448-1", "P00367-1", "P26443-1", "P33327-1", "Q54KB7-1", "Q54VI3-1", "P54385-1" ], "evidence": [ { "id": "15133", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15133" } ] }, { "id": "R-HSA-5688276", "name": "SIRT4 transfers ADPRib to GLUD", "equation": "", "summary": "Sirtuin 4 (SIRT4) is a mitochondrial ADP-ribosyltransferase and deacetylase. It uses NAD+ to ADP-ribosylate glutamate dehydrogenase (GLUD), reducing its enzyme activity by at least 50%, leading to reduced insulin secretion in pancreatic beta cells (Haigis et al. 2006, Ahuja et al. 2007).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [ "R-ALL-5688274" ], "enzyme_list": [ "P49448-1", "Q9Y6E7-1", "P00367-1" ], "evidence": [ { "id": "R-HSA-5688276", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5688276" } ] }, { "id": "R-HSA-5688289", "name": "SIRT3 deacetylates ACCS2, GLUD, IDH2, SOD2", "equation": "", "summary": "Sirtuin 3 (SIRT3) is the most extensively studied of the mitochondrial sirtuins. It deacetylates and thereby activates Acetyl-CoA synthetase 2 (ACCS2), Glutamate dehydrogenase (GLUD), Isocitrate dehydrogenase 2 (IDH2) and Superoxide dismutase 2 (SOD2) (Schwer et al. 2006, Lombard et al. 2007, Schlicker et al. 2008, Tao et al. 2010).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [ "R-ALL-5688337" ], "enzyme_list": [ "P48735-1", "P49448-1", "Q9NR19-1", "Q9NTG7-1", "P04179-1", "P00367-1" ], "evidence": [ { "id": "R-HSA-5688289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5688289" } ] }, { "id": "R-HSA-70589", "name": "alpha-ketoglutarate + NH4+ + NAD(P)H + H+ <=> glutamate + NAD(P)+ [GLUD1]", "equation": "", "summary": "Mitochondrial glutamate dehydrogenase 1 (GLUD1) catalyzes the reversible reaction of 2-oxoglutarate, NAD(P)H + H+, and ammonia to form glutamate and NAD(P)+ (Fang et al. 2002). Mature GLUD1 protein lacks the 53 aminoterminal residues of the nascent protein (Julliard and Smith 1979), which function as a mitochondrial import signal. The active form of the enzyme is a hexamer, allosterically activated by ADP and inhibited by GTP (Fang et al. 2002; Smith et al. 2002).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-113561" ], "output_participant_list": [], "enzyme_list": [ "P49448-1", "P00367-1" ], "evidence": [ { "id": "R-HSA-70589", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70589" } ] }, { "id": "R-HSA-70600", "name": "glutamate + NAD(P)+ => alpha-ketoglutarate + NH4+ + NAD(P)H + H+ [GLUD1]", "equation": "", "summary": "Mitochondrial glutamate dehydrogenase 1 (GLUD1) catalyzes the reversible reaction of glutamate and NAD(P)+ to form 2-oxoglutarate, NAD(P)H + H+, and ammonia (Fang et al. 2002). Mature GLUD1 protein lacks the 53 aminoterminal residues of the nascent protein (Julliard and Smith 1979), which function as a mitochondrial import signal. The active form of the enzyme is a hexamer, allosterically activated by ADP and inhibited by GTP (Fang et al. 2002; Smith et al. 2002).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P49448-1", "P00367-1" ], "evidence": [ { "id": "R-HSA-70600", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70600" } ] }, { "id": "R-HSA-9838081", "name": "LONP1 degrades mitochondrial matrix proteins", "equation": "", "summary": "ATP hydrolysis drives translocation of the substrate protein to the active site of LONP1 (Ambro et al. 2014, Mohammed et al. 2022) where it induces the active conformation of LONP1 (Shin et al. 2021). LONP1 predominantly cleaves peptide bonds adjacent to hydrophobic amino acid residues (He et al. 2018). LONP1 degrades several mitochondrial matrix proteins (Lee et al. 2021), including steroidogenic acute regulatory protein (STAR) (Ondrovicova et al. 2005), the helicase TWNK (Twinkle, PEO1) (Kunova et al. 2017), oxidized aconitase (ACO2) (Bota and Davies 2002), HMGCS2 (Bai et al. 2023), and unassembled ribosomal subunits (Kunova et al. 2017). Phosphorylation of the HMG1 domain of TFAM prevents DNA binding and LONP1 specifically degrades TFAM that is not bound to DNA (Lu et al. 2013). LONP1 in association with mtHSP70 also possesses an ATP-dependent chaperone (protein folding) activity that is independent of its protease activity (Shin et al. 2021, Matsushima et al. 2021). A dominant mutation in LONP1 (c.901C>T; p.R301W) causes excessive protease activity and reduced chaperone activity that results in reduced mitochondrial function and encephalopathy (Besse et al. 2020). Mutations in LONP1 cause cerebral, ocular, dental, auricular, and skeletal anomalies (CODAS) syndrome (MIM 600373) (Dikoglu et al. 2015, Strauss et al. 2015).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "P54868-1", "P28331-1", "Q02218-1", "P07954-1", "Q4G0N4-1", "P11182-1", "P49753-1", "Q99714-1", "Q99798-1", "P45954-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "P22830-1", "Q9NWU1-1", "Q96RR1-1", "P55809-1", "P42126-1", "Q13011-1", "P10809-1", "P00367-1", "P36776-1", "P11177-1", "P24752-1", "P40926-1", "P05166-1", "P23368-1", "Q16836-1", "Q15118-1", "Q9NSE4-1" ], "evidence": [ { "id": "R-HSA-9838081", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838081" } ] }, { "id": "R-HSA-9838093", "name": "LONP1 binds mitochondrial matrix proteins", "equation": "", "summary": "LONP1 binds substrate proteins and degrades them using an ATP-dependent mechanism (Mohammed et al. 2022). The binding of proteins to LONP1 can allosterically stimulate its ATPase activity (inferred from bacterial Lon proteases in Waxman et al. 1986, Lin et al. 2016). Human LONP1 binds, unfolds, and degrades several mitochondrial matrix proteins (Lee et al. 2021), including oxidized aconitase in which hydrophobic regions are exposed (Bota and Davies 2002). However, LONP1 is unable to degrade aggregated oxidized aconitase (Bota and Davies 2002). Steroidogenic acute regulatory protein (STAR) is directed to the mitochondrial matrix for degradation by LONP1 and other proteases (Ondrovicova et al. 2005, Granot et al. 2007). The mitochondrial large ribosome subunit MRPL32 is degraded by LONP1 when MRPL32 is not incorporated in the ribosome and hence not bound to nucleic acid (Kunova et al. 2017). Other ribosomal subunits appear to be similarly degraded (Kunova et al. 2017). The helicase TWNK (Twinkle, PEO1) is degraded by LONP1 regardless of its association with nucleic acid (Kunova et al. 2017). 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"P55809", "gene_name": "OXCT1", "activity": [ { "ec_number": "2.8.3.5", "activity": "a 3-oxo acid + succinyl-CoA = a 3-oxoacyl-CoA + succinate.", "evidence": [ { "id": "P55809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55809" } ] }, { "ec_number": "2.8.3.5", "activity": "", "evidence": [ { "id": "P55809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55809" } ] } ] }, { "uniprot_ac": "P78540", "gene_name": "ARG2", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] } ] }, { "uniprot_ac": "Q02218", "gene_name": "OGDH", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase] = CO2 + N(6)-[(R)-S(8)-succinyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase].", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] } ] }, { "uniprot_ac": "Q13011", "gene_name": "ECH1", "activity": [ { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "Q13011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13011" } ] } ] }, { "uniprot_ac": "Q15118", "gene_name": "PDK1", "activity": [ { "ec_number": "2.7.11.-", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit].", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] } ] }, { "uniprot_ac": "Q16836", "gene_name": "HADH", "activity": [ { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q16836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16836" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "Q16836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16836" } ] } ] }, { "uniprot_ac": "Q4G0N4", "gene_name": "NADK2", "activity": [ { "ec_number": "2.7.1.23", "activity": "ATP + NAD(+) = ADP + H(+) + NADP(+).", "evidence": [ { "id": "Q4G0N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4G0N4" } ] }, { "ec_number": "2.7.1.23", "activity": "", "evidence": [ { "id": "Q4G0N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4G0N4" } ] } ] }, { "uniprot_ac": "Q54KB7", "gene_name": "gluD", "activity": [ { "ec_number": "1.4.1.3", "activity": "H2O + L-glutamate + NAD(+) = 2-oxoglutarate + H(+) + NADH + NH4(+).", "evidence": [ { "id": "Q54KB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KB7" } ] }, { "ec_number": "1.4.1.3", "activity": "", "evidence": [ { "id": "Q54KB7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KB7" } ] } ] }, { "uniprot_ac": "Q54VI3", "gene_name": "glud2", "activity": [ { "ec_number": "1.4.1.2", "activity": "H2O + L-glutamate + NAD(+) = 2-oxoglutarate + H(+) + NADH + NH4(+).", "evidence": [ { "id": "Q54VI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54VI3" } ] }, { "ec_number": "1.4.1.2", "activity": "", "evidence": [ { "id": "Q54VI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54VI3" } ] } ] }, { "uniprot_ac": "Q96RR1", "gene_name": "TWNK", "activity": [ { "ec_number": "5.6.2.3", "activity": "Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction. This creates two antiparallel DNA single strands (ssDNA). The leading ssDNA polymer is the template for DNA polymerase III holoenzyme which synthesizes a continuous strand.", "evidence": [ { "id": "Q96RR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96RR1" } ] }, { "ec_number": "5.6.2.3", "activity": "", "evidence": [ { "id": "Q96RR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96RR1" } ] } ] }, { "uniprot_ac": "Q99714", "gene_name": "HSD17B10", "activity": [ { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.178", "activity": "(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3-oxobutanoyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.159", "activity": "cholate + NAD(+) = 3alpha,12alpha-dihydroxy-7-oxo-5beta-cholanate + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] } ] }, { 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