{ "uniprot_canonical_ac": "P07101-1", "uniprot_ac": "P07101", "uniprot_id": "TY3H_HUMAN", "mass": { "chemical_mass": 58600.0, "monoisotopic_mass": 58600.0 }, "refseq": { "ac": "NP_000351", "name": "tyrosine 3-monooxygenase isoform b", "summary": "The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351" }, "gene_names": [ { "name": "TH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07101", "id": "P07101" }, { "name": "DYT14; DYT5b; TYH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351", "id": "NP_000351" }, { "name": "TH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351", "id": "NP_000351" }, { "name": "TYH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07101", "id": "P07101" } ], "protein_names": [ { "name": "Tyrosine 3-monooxygenase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07101" }, { "name": "1.14.16.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07101" }, { "name": "TH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07101" }, { "name": "Tyrosine 3-hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07101" }, { "name": "tyrosine 3-monooxygenase isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351", "id": "NP_000351" }, { "name": "tyrosine 3-monooxygenase; dystonia 14; tyrosine 3-hydroxylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351", "id": "NP_000351" } ], "function": [ { "annotation": "Aging accentuates decrease in tyrosine hydroxylase immunoreactivity associated with the increase in the motor impairment in a model of reserpine-induced parkinsonism.", "evidence": [ { "database": "RefSeq", "id": "NP_000351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351" }, { "database": "PubMed", "id": "36115503", "url": "https://glygen.org/publication/PubMed/36115503" } ] }, { "annotation": "Catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-Dopa), the rate-limiting step in the biosynthesis of cathecolamines, dopamine, noradrenaline, and adrenaline. Uses tetrahydrobiopterin and molecular oxygen to convert tyrosine to L-Dopa (PubMed:17391063, PubMed:1680128, PubMed:15287903, PubMed:8528210, Ref.18, PubMed:34922205, PubMed:24753243). In addition to tyrosine, is able to catalyze the hydroxylation of phenylalanine and tryptophan with lower specificity (By similarity). Positively regulates the regression of retinal hyaloid vessels during postnatal development (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101#function" }, { "database": "PubMed", "id": "24753243", "url": "https://glygen.org/publication/PubMed/24753243" }, { "database": "PubMed", "id": "8528210", "url": "https://glygen.org/publication/PubMed/8528210" }, { "database": "UniProtKB", "id": "P24529", "url": "https://www.uniprot.org/uniprot/P24529#function" }, { "database": "PubMed", "id": "34922205", "url": "https://glygen.org/publication/PubMed/34922205" }, { "database": "UniProtKB", "id": "SIP5FC33B42DE05F477", "url": "https://www.uniprot.org/uniprot/SIP5FC33B42DE05F477#function" }, { "database": "PubMed", "id": "15287903", "url": "https://glygen.org/publication/PubMed/15287903" }, { "database": "PubMed", "id": "17391063", "url": "https://glygen.org/publication/PubMed/17391063" }, { "database": "UniProtKB", "id": "P04177", "url": "https://www.uniprot.org/uniprot/P04177#function" }, { "database": "PubMed", "id": "1680128", "url": "https://glygen.org/publication/PubMed/1680128" } ] }, { "annotation": "Expression Quantitative Trait Locus rs6356 Is Associated with Susceptibility to Heroin Addiction by Potentially Influencing TH Gene Expression in the Hippocampus and Nucleus Accumbens.", "evidence": [ { "database": "RefSeq", "id": "NP_000351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351" }, { "database": "PubMed", "id": "35258801", "url": "https://glygen.org/publication/PubMed/35258801" } ] }, { "annotation": "Lacks catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101#function" }, { "database": "PubMed", "id": "17391063", "url": "https://glygen.org/publication/PubMed/17391063" } ] }, { "annotation": "The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351" } ] }, { "annotation": "[Clinical and genetic analysis of tyrosine hydroxylase deficiency of six cases].", "evidence": [ { "database": "RefSeq", "id": "NP_000351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351" }, { "database": "PubMed", "id": "37840187", "url": "https://glygen.org/publication/PubMed/37840187" } ] }, { "annotation": "[Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations].", "evidence": [ { "database": "RefSeq", "id": "NP_000351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351" }, { "database": "PubMed", "id": "37011980", "url": "https://glygen.org/publication/PubMed/37011980" } ] } ], "disease": [ { "disease_id": "MONDO:0011551", "recommended_name": { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "TH-deficient dopa-responsive dystonia", "description": "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." }, "synonyms": [ { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "DYT5b", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "Dopa-responsive dystonia, autosomal recessive", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "Segawa syndrome, recessive", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "autosomal recessive Segawa syndrome", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "autosomal recessive dopa-responsive dystonia", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "dopa-responsive dystonia, autosomal recessive", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "tyrosine hydroxylase-deficient dopa-responsive dystonia", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "DOPA responsive dystonia, autosomal recessive", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "Parkinsonism, infantile, autosomal recessive", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "Segawa syndrome, autosomal recessive", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "dystonia, DOPA responsive, autosomal recessive", "description": "" }, { "id": "MONDO:0011551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011551", "name": "dystonia, Dopa-responsive, autosomal recessive", "description": "" }, { "id": "MIM:605407", "resource": "MIM", "url": "https://www.omim.org/entry/605407", "name": "Segawa syndrome autosomal recessive", "description": "Segawa syndrome autosomal recessive" } ], "evidence": [ { "id": "605407", "database": "MIM", "url": "https://www.omim.org/entry/605407" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 207, "end_pos": 207, "sequence_org": "C", "sequence_mut": "A", "comment": "Suppresses the decrease in tyrosine 3-monooxygenase activity induced by NEM modification. Suppresses feedback inhibition induced by dopamine; when associated with E-71.", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" }, { "database": "PubMed", "id": "34922205", "url": "https://glygen.org/publication/PubMed/34922205" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "S", "sequence_mut": "A", "comment": "Affects subcellular localization. Accumulates mainly in the soma of the neuroblastoma cells.", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" }, { "database": "PubMed", "id": "28637871", "url": "https://glygen.org/publication/PubMed/28637871" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "S", "sequence_mut": "E", "comment": "Does not affect subcellular localization. Distributed throughout the soma and neurites.", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" }, { "database": "PubMed", "id": "28637871", "url": "https://glygen.org/publication/PubMed/28637871" } ] }, { "start_pos": 71, "end_pos": 71, "sequence_org": "S", "sequence_mut": "E", "comment": "Suppresses feedback inhibition induced by dopamine. Suppresses feedback inhibition induced by dopamine; when associated with A-207.", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" }, { "database": "PubMed", "id": "34922205", "url": "https://glygen.org/publication/PubMed/34922205" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "44.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": 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"ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "60.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "45.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "47.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "49.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "44.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07101", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07101" } ], "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 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"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", 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"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": "" 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"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 - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric 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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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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07101", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07101" } ], "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/P07101" } ], "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 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P07101", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07101" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07101", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07101" } ], "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": "P07101", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07101" } ], "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": "P07101", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07101" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "common_name": "Human" } ], "gene": [ { "name": "TH", "url": "https://www.uniprot.org/uniprot/P07101", "locus": { "chromosome": "11", "start_pos": 2163929, "end_pos": 2171815, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000180176", "url": "https://www.ensembl.org/id/ENSG00000180176" } ] } } ], "crossref": [ { "id": "ENSG00000180176", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180176", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "1.14.16.2", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.14.16.2&UniProtAcc=P07101", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd03345", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03345", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd04930", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04930", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1969", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1969", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "TH", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7054", "url": "https://www.ncbi.nlm.nih.gov/gene/7054", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11782", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11782", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P07101", "url": "https://www.ebi.ac.uk/intact/interactors/id:P07101*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001273", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001273", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005962", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005962", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018301", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018301", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019773", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019773", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019774", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019774", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021164", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021164", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036329", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036329", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036951", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036951", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041903", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041903", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045865", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045865", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR049321", "url": "https://www.ebi.ac.uk/interpro/entry/IPR049321", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7054", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7054", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "191290", "url": "http://www.omim.org/entry/191290", "database": "MIM", "categories": [ "Other" ] }, { "id": "605407", "url": "http://www.omim.org/entry/605407", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P07101", "url": "https://www.nextprot.org/entry/NX_P07101", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "KHACSEY", "url": "https://omabrowser.org/oma/group/KHACSEY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "275463at2759", "url": "http://www.orthodb.org/?query=275463at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11473", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11473", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11473:SF18", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11473:SF18", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2XSN", "url": "https://www.rcsb.org/structure/2XSN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4J6S", "url": "https://www.rcsb.org/structure/4J6S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ZN2", "url": "https://www.rcsb.org/structure/6ZN2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ZVP", "url": "https://www.rcsb.org/structure/6ZVP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ZZU", "url": "https://www.rcsb.org/structure/6ZZU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7A2G", "url": "https://www.rcsb.org/structure/7A2G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7PIM", "url": "https://www.rcsb.org/structure/7PIM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00351", "url": "http://pfam.xfam.org/family/PF00351", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12549", "url": "http://pfam.xfam.org/family/PF12549", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21417", "url": "http://pfam.xfam.org/family/PF21417", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P07101", "url": "https://pharos.nih.gov/targets/P07101", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P07101", "url": "http://purl.obolibrary.org/obo/PR_P07101", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-209905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "18201", "url": "https://www.rhea-db.org/rhea/18201", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E7EQI0", "url": "https://www.uniprot.org/uniprot/E7EQI0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EQI0-1", "url": "https://www.uniprot.org/uniprot/E7EQI0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W8M5", "url": "https://www.uniprot.org/uniprot/F8W8M5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W8M5-1", "url": "https://www.uniprot.org/uniprot/F8W8M5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y670", "url": "https://www.uniprot.org/uniprot/H0Y670", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y670-1", "url": "https://www.uniprot.org/uniprot/H0Y670-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y677", "url": "https://www.uniprot.org/uniprot/H0Y677", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y677-1", "url": "https://www.uniprot.org/uniprot/H0Y677-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07101-1", "url": "https://www.uniprot.org/uniprot/P07101-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07101-2", "url": "https://www.uniprot.org/uniprot/P07101-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07101-3", "url": "https://www.uniprot.org/uniprot/P07101-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07101-4", "url": "https://www.uniprot.org/uniprot/P07101-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07101-5", "url": "https://www.uniprot.org/uniprot/P07101-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07101-6", "url": "https://www.uniprot.org/uniprot/P07101-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQGAPGPSLTGSPWPGTAAPAASYTPTPRSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNIPQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG", "length": 528, "header": "sp|P07101-1|TY3H_HUMAN Isoform 1 of Tyrosine 3-monooxygenase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=5 CANONICAL=P07101-1" }, "isoforms": [ { "isoform_ac": "E7EQI0-1", "url": "", "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQGHQALGAVPSCEGV", "length": 48, "header": "tr|E7EQI0-1|E7EQI0_HUMAN Computationally mapped isoform of Tyrosine hydroxylase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=1 CANONICAL=P07101-1" }, "locus": { "chromosome": "11", "start_pos": 2171786, "end_pos": 2169654, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381168.7", "url": "https://www.ensembl.org/id/ENST00000381168.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000370560.3", "url": "https://www.ensembl.org/id/ENSP00000370560.3" } ] } }, { "isoform_ac": "F8W8M5-1", "url": "", "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMGHQALGAVPSCEGV", "length": 44, "header": "tr|F8W8M5-1|F8W8M5_HUMAN Computationally mapped isoform of Tyrosine hydroxylase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=1 CANONICAL=P07101-1" }, "locus": { "chromosome": "11", "start_pos": 2171786, "end_pos": 2169654, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000324155.8", "url": "https://www.ensembl.org/id/ENST00000324155.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000325831.3", "url": "https://www.ensembl.org/id/ENSP00000325831.3" } ] } }, { "isoform_ac": "H0Y670-1", "url": "", "sequence": { "sequence": "XDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIAT", "length": 45, "header": "tr|H0Y670-1|H0Y670_HUMAN Computationally mapped isoform of Tyrosine hydroxylase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=1 CANONICAL=P07101-1" }, "locus": { "chromosome": "11", "start_pos": 2168106, "end_pos": 2167435, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416223.5", "url": "https://www.ensembl.org/id/ENST00000416223.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403440.1", "url": "https://www.ensembl.org/id/ENSP00000403440.1" } ] } }, { "isoform_ac": "H0Y677-1", "url": "", "sequence": { "sequence": "XDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSY", "length": 116, "header": "tr|H0Y677-1|H0Y677_HUMAN Computationally mapped isoform of Tyrosine hydroxylase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=1 CANONICAL=P07101-1" }, "locus": { "chromosome": "11", "start_pos": 2168106, "end_pos": 2165679, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412076.1", "url": "https://www.ensembl.org/id/ENST00000412076.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000403546.1", "url": "https://www.ensembl.org/id/ENSP00000403546.1" } ] } }, { "isoform_ac": "P07101-1", "url": "", "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQGAPGPSLTGSPWPGTAAPAASYTPTPRSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNIPQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG", "length": 528, "header": "sp|P07101-1|TY3H_HUMAN Isoform 1 of Tyrosine 3-monooxygenase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=5 CANONICAL=P07101-1" }, "locus": { "chromosome": "11", "start_pos": 2171786, "end_pos": 2164236, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381178.5", "url": "https://www.ensembl.org/id/ENST00000381178.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000370571.1", "url": "https://www.ensembl.org/id/ENSP00000370571.1" } ] } }, { "isoform_ac": "P07101-2", "url": "", "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMGAPGPSLTGSPWPGTAAPAASYTPTPRSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNIPQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG", "length": 524, "header": "sp|P07101-2|TY3H_HUMAN Isoform 2 of Tyrosine 3-monooxygenase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=5 CANONICAL=P07101-1" }, "locus": { "chromosome": "11", "start_pos": 2171786, "end_pos": 2164236, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381175.5", "url": "https://www.ensembl.org/id/ENST00000381175.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000370567.1", "url": "https://www.ensembl.org/id/ENSP00000370567.1" } ] } }, { "isoform_ac": "P07101-3", "url": "", "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNIPQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG", "length": 497, "header": "sp|P07101-3|TY3H_HUMAN Isoform 3 of Tyrosine 3-monooxygenase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=5 CANONICAL=P07101-1" }, "locus": { "chromosome": "11", "start_pos": 2171786, "end_pos": 2164236, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000352909.8", "url": "https://www.ensembl.org/id/ENST00000352909.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000325951.4", "url": "https://www.ensembl.org/id/ENSP00000325951.4" } ] } }, { "isoform_ac": "P07101-4", "url": "", "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNIPQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG", "length": 501, "header": "sp|P07101-4|TY3H_HUMAN Isoform 4 of Tyrosine 3-monooxygenase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=5 CANONICAL=P07101-1" }, "locus": {} }, { "isoform_ac": "P07101-5", "url": "", "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG", "length": 407, "header": "sp|P07101-5|TY3H_HUMAN Isoform 5 of Tyrosine 3-monooxygenase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=5 CANONICAL=P07101-1" }, "locus": {} }, { "isoform_ac": "P07101-6", "url": "", "sequence": { "sequence": "MPTPDATTPQAKGFRRAVSELDAKQAEAIMSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG", "length": 403, "header": "sp|P07101-6|TY3H_HUMAN Isoform 6 of Tyrosine 3-monooxygenase OS=Homo sapiens OX=9606 GN=TH PE=1 SV=5 CANONICAL=P07101-1" }, "locus": { "chromosome": "11", "start_pos": 2171786, "end_pos": 2164236, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000333684.9", "url": "https://www.ensembl.org/id/ENST00000333684.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000328814.6", "url": "https://www.ensembl.org/id/ENSP00000328814.6" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 19, "end_pos": 19, "kinase_uniprot_canonical_ac": "P49137-1", "kinase_gene_name": "MAPKAPK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" }, { "database": "PubMed", "id": "11359875", "url": "https://glygen.org/publication/PubMed/11359875" }, { "database": "PubMed", "id": "6150037", "url": "https://glygen.org/publication/PubMed/6150037" }, { "database": "PubMed", "id": "7901013", "url": "https://glygen.org/publication/PubMed/7901013" }, { "database": "phospho.ELM", "id": "P07101", "url": "http://phospho.elm.eu.org/byAccession/P07101.html" } ], "site_lbl": "Ser19" }, { "start_pos": 19, "end_pos": 19, "kinase_uniprot_canonical_ac": "Q13555-1", "kinase_gene_name": "CAMK2G", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" }, { "database": "PubMed", "id": "11359875", "url": 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Genet.", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.", "journal": "Clinical chemistry", "date": "1999", "authors": "Brautigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "10585338", "url": "https://glygen.org/publication/PubMed/10585338" } ] }, { "title": "Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.", "journal": "Journal of inherited metabolic disease", "date": "2000", "authors": "DE Lonlay P, Nassogne MC, van Gennip AH, van Cruchten AC, Billatte de Villemeur T, Cretz M, Stoll C, Launay JM, Steenberger-Spante GC, van den Heuvel LP, Wevers RA, Saudubray JM, Abeling NG", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "11196107", "url": "https://glygen.org/publication/PubMed/11196107" } ] }, { "title": "Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.", "journal": "Annals of human genetics", "date": "2000", "authors": "Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "11246459", "url": "https://glygen.org/publication/PubMed/11246459" } ] }, { "title": "Interaction of phosphorylated tyrosine hydroxylase with 14-3-3 proteins: evidence for a phosphoserine 40-dependent association.", "journal": "Journal of neurochemistry", "date": "2001", "authors": "Kleppe R, Toska K, Haavik J", "evidence": [ { "database": "iPTMnet", "id": "P07101-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101-1" } ], "reference": [ { "type": "PubMed", "id": "11359875", "url": "https://glygen.org/publication/PubMed/11359875" } ] }, { "title": "Effects of substitution at serine 40 of tyrosine hydroxylase on catecholamine binding.", "journal": "Biochemistry", "date": "2001-06-19", "authors": "McCulloch R I, Daubner S C, Fitzpatrick P F", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" } ], "reference": [ { "type": "PubMed", "id": "11401575", "url": 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"url": "https://glygen.org/publication/PubMed/12421349" } ] }, { "title": "ERK1 and ERK2, two microtubule-associated protein 2 kinases, mediate the phosphorylation of tyrosine hydroxylase at serine-31 in situ.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Haycock JW, Ahn NG, Cobb MH, Krebs EG", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" } ], "reference": [ { "type": "PubMed", "id": "1347949", "url": "https://glygen.org/publication/PubMed/1347949" } ] }, { "title": "Effects of phosphorylation by protein kinase A on binding of catecholamines to the human tyrosine hydroxylase isoforms.", "journal": "Journal of neurochemistry", "date": "2004", "authors": "Sura GR, Daubner SC, Fitzpatrick PF", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" }, { "database": "iPTMnet", "id": 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BT, Fitzpatrick PF, Bibb JA", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" } ], "reference": [ { "type": "PubMed", "id": "15447670", "url": "https://glygen.org/publication/PubMed/15447670" } ] }, { "title": "Cyclin-dependent kinase 5 phosphorylates serine 31 of tyrosine hydroxylase and regulates its stability.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Moy LY, Tsai LH", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" } ], "reference": [ { "type": "PubMed", "id": "15471880", "url": "https://glygen.org/publication/PubMed/15471880" } ] }, { "title": "Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.", "journal": "Neurology", "date": "2004", "authors": "Schiller A, Wevers RA, Steenbergen GC, Blau N, Jung HH", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "15505183", "url": "https://glygen.org/publication/PubMed/15505183" } ] }, { "title": "Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.", "journal": "Movement disorders : official journal of the Movement Disorder Society", "date": "2005", "authors": "Diepold K, Schutz B, Rostasy K, Wilken B, Hougaard P, Guttler F, Romstad A, Birk Moller L", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "15747353", "url": "https://glygen.org/publication/PubMed/15747353" } ] }, { "title": "Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.", "journal": "Prenatal diagnosis", "date": "2005", "authors": "Moller LB, Romstad A, Paulsen M, Hougaard P, Ormazabal A, Pineda M, Blau N, Guttler F, Artuch R", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "16049992", "url": "https://glygen.org/publication/PubMed/16049992" } ] }, { "title": "Differential regulation of the human tyrosine hydroxylase isoforms via hierarchical phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2006-06-30", "authors": "Lehmann Ingo T, Bobrovskaya Larisa, Gordon Sarah L, Dunkley Peter R, Dickson Phillip W", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" } ], "reference": [ { "type": "PubMed", "id": "16644734", "url": "https://glygen.org/publication/PubMed/16644734" } ] }, { "title": "Different effects on activity caused by phosphorylation of tyrosine hydroxylase at serine 40 by three multifunctional protein kinases.", "journal": "The Journal of biological chemistry", "date": "1991-08-25", "authors": 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Absence or Presence of Hif2\u03b1 in Pheochromocytoma Cells.", "journal": "Cancers", "date": "2019-04-28", "authors": "Bechmann Nicole, Poser Isabel, Seifert Verena, Greunke Christian, Ullrich Martin, Qin Nan, Walch Axel, Peitzsch Mirko, Robledo Mercedes, Pacak Karel, Pietzsch Jens, Richter Susan, Eisenhofer Graeme", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" } ], "reference": [ { "type": "PubMed", "id": "31035382", "url": "https://glygen.org/publication/PubMed/31035382" } ] }, { "title": "Molecular cloning of cDNA and chromosomal assignment of the gene for human phenylethanolamine N-methyltransferase, the enzyme for epinephrine biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Kaneda N, Ichinose H, Kobayashi K, Oka K, Kishi F, Nakazawa A, Kurosawa Y, Fujita K, Nagatsu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-209905", "url": 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Henry JP, Mallet J", "evidence": [ { "database": "Reactome", "id": "R-HSA-209905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905" } ], "reference": [ { "type": "PubMed", "id": "3443096", "url": "https://glygen.org/publication/PubMed/3443096" } ] }, { "title": "Tyrosine hydroxylase activity is regulated through the modification of the 176th cysteine residue.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Inukai S, Hara S, Ichinose H", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "34922205", "url": "https://glygen.org/publication/PubMed/34922205" } ] }, { "title": "Structural mechanism for tyrosine hydroxylase inhibition by dopamine and reactivation by Ser40 phosphorylation.", "journal": "Nature communications", "date": "2022", "authors": "Bueno-Carrasco MT, Cuellar J, Flydal MI, Santiago C, Krakenes TA, Kleppe R, Lopez-Blanco JR, Marcilla M, Teigen K, Alvira S, Chacon P, Martinez A, Valpuesta JM", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" } ], "reference": [ { "type": "PubMed", "id": "35013193", "url": "https://glygen.org/publication/PubMed/35013193" } ] }, { "title": "Expression Quantitative Trait Locus rs6356 Is Associated with Susceptibility to Heroin Addiction by Potentially Influencing TH Gene Expression in the Hippocampus and Nucleus Accumbens.", "journal": "Journal of molecular neuroscience : MN", "date": "2022", "authors": "Wang K, Zhang H, Ji J, Zhang R, Dang W, Xie Q, Zhu Y, Zhang J", "evidence": [ { "database": "RefSeq", "id": "NP_000351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351" } ], "reference": [ { "type": "PubMed", "id": "35258801", "url": "https://glygen.org/publication/PubMed/35258801" } ] }, { "title": "Aging accentuates decrease in tyrosine hydroxylase immunoreactivity associated with the increase in the motor impairment in a model of reserpine-induced parkinsonism.", "journal": "Journal of chemical neuroanatomy", "date": "2022-11", "authors": "Melo Jo\u00e3o E C, Santos Thassya F O, Santos Rodolfo S, Franco Heitor S, Monteiro Milena C N, Bispo Jos\u00e9 M M, Mendon\u00e7a Mylaine S, Ribeiro Alessandra M, Silva Regina H, Gois Auderlan M, Marchioro Murilo, Lins L\u00edvia C R F, Santos Jos\u00e9 R", "evidence": [ { "database": "RefSeq", "id": "NP_000351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000351" } ], "reference": [ { "type": "PubMed", "id": "36115503", "url": "https://glygen.org/publication/PubMed/36115503" } ] }, { "title": "[Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations].", "journal": "Zhonghua er ke za zhi = Chinese journal of pediatrics", "date": "2023-04-02", "authors": "Zhang G Y, Cai Z J, Zhang X L, Yang L, Li Y Z, Wei L K, Zhang Y P, Chang P P, Zhu D N", 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Genet.", "date": "1995", "authors": "L\u00fcdecke B, Bartholom\u00e9 K", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "7789962", "url": "https://glygen.org/publication/PubMed/7789962" } ] }, { "title": "A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.", "journal": "Human genetics", "date": "1995", "authors": "Ludecke B, Dworniczak B, Bartholome K", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "7814018", "url": "https://glygen.org/publication/PubMed/7814018" } ] }, { "title": "Phosphorylation and activation of human tyrosine hydroxylase in vitro by mitogen-activated protein (MAP) kinase and MAP-kinase-activated kinases 1 and 2.", "journal": "European journal of biochemistry", "date": "1993", "authors": "Sutherland C, Alterio J, Campbell DG, Le Bourdelles B, Mallet J, Haavik J, Cohen P", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" }, { "database": "iPTMnet", "id": "P07101-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101-1" } ], "reference": [ { "type": "PubMed", "id": "7901013", "url": "https://glygen.org/publication/PubMed/7901013" } ] }, { "title": "Functional and high level expression of human dopamine beta-hydroxylase in transgenic mice.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Kobayashi K, Morita S, Mizuguchi T, Sawada H, Yamada K, Nagatsu I, Fujita K, Nagatsu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-209905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905" } ], "reference": [ { "type": "PubMed", "id": "7961964", "url": "https://glygen.org/publication/PubMed/7961964" } ] }, { "title": "Four isoforms of tyrosine hydroxylase are expressed in human brain.", "journal": "Neuroscience", "date": "1993", "authors": "Lewis DA, Melchitzky DS, Haycock JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-209905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905" } ], "reference": [ { "type": "PubMed", "id": "8101641", "url": "https://glygen.org/publication/PubMed/8101641" } ] }, { "title": "Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.", "journal": "Human molecular genetics", "date": "1995", "authors": "Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "8528210", "url": "https://glygen.org/publication/PubMed/8528210" } ] }, { "title": "Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.", "journal": "Human molecular genetics", "date": "1996", "authors": "Ludecke B, Knappskog PM, Clayton PT, Surtees RA, Clelland JD, Heales SJ, Brand MP, Bartholome K, Flatmark T", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "8817341", "url": "https://glygen.org/publication/PubMed/8817341" } ] }, { "title": "The effect of phosphorylation at Ser-40 on the structure and thermal stability of tyrosine hydroxylase.", "journal": "Advances in pharmacology (San Diego, Calif.)", "date": "1998", "authors": "Muga A, Arrondo JL, Martinez A, Flatmark T, Haavik J", "evidence": [ { "database": "iPTMnet", "id": "P07101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07101" } ], "reference": [ { "type": "PubMed", "id": "9327834", "url": "https://glygen.org/publication/PubMed/9327834" } ] }, { "title": "Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.", "journal": "American journal of medical genetics", "date": "1998", "authors": "Kunugi H, Kawada Y, Hattori M, Ueki A, Otsuka M, Nanko S", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "9613851", "url": "https://glygen.org/publication/PubMed/9613851" } ] }, { "title": "A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.", "journal": "Human genetics", "date": "1998", "authors": "van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "9703425", "url": "https://glygen.org/publication/PubMed/9703425" } ] }, { "title": "Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism.", "journal": "Am. J. Med. Genet.", "date": "1998", "authors": "Ishiguro H, Arinami T, Saito T, Akazawa S, Enomoto M, Mitushio H, Fujishiro H, Tada K, Akimoto Y, Mifune H, Shiozuka S, Hamaguchi H, Toru M, Shibuya H", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "reference": [ { "type": "PubMed", "id": "9754624", "url": "https://glygen.org/publication/PubMed/9754624" } ] } ], "pathway": [ { "id": "hsa:7054", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7054", "resource": "KEGG Pathway" }, { "id": "R-HSA-209905", "name": "Catecholamine biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905", "resource": "Reactome", "description": "Catecholamine biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "P04177-1", "protein_name": "Tyrosine 3-monooxygenase", "gene_name": "Th", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "mating behavior", "id": "GO:0007617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007617", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to isolation stress", "id": "GO:0035900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035900", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "sphingolipid metabolic process", "id": "GO:0006665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006665", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "dopamine biosynthetic process", "id": "GO:0042416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042416", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cellular response to alkaloid", "id": "GO:0071312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071312", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to salt stress", "id": "GO:0009651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009651", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to immobilization stress", "id": "GO:0035902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035902", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to herbicide", "id": "GO:0009635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009635", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to ether", "id": "GO:0045472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045472", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "epinephrine biosynthetic process", "id": "GO:0042418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042418", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "circadian sleep/wake cycle", "id": "GO:0042745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042745", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "norepinephrine biosynthetic process", "id": "GO:0042421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042421", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cellular response to nicotine", "id": "GO:0071316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071316", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "embryonic camera-type eye morphogenesis", "id": "GO:0048596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048596", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "phthalate metabolic process", "id": "GO:0018963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018963", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "isoquinoline alkaloid metabolic process", "id": "GO:0033076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033076", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "aminergic neurotransmitter loading into synaptic vesicle", "id": "GO:0015842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015842", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "response to pyrethroid", "id": "GO:0046684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046684", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "phytoalexin metabolic process", "id": "GO:0052314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052314", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 15, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Phosphorylated on Ser-19, Ser-62 and Ser-71 by several protein kinases with different site specificities. Phosphorylation at Ser-62 and Ser-71 leads to an increase of TH activity (PubMed:7901013). Phosphorylation at Ser-71 activates the enzyme and also counteracts the feedback inhibition of TH by catecholamines (PubMed:15287903). Phosphorylation of Ser-19 and Ser-62 triggers the proteasomal degradation of TH through the ubiquitin-proteasome pathway (By similarity). Phosphorylation at Ser-62 facilitates transport of TH from the soma to the nerve terminals via the microtubule network (PubMed:28637871). Phosphorylation at Ser-19 induces the high-affinity binding to the 14-3-3 protein YWHAG; this interaction may influence the phosphorylation and dephosphorylation of other sites (PubMed:24947669). Ser-19 increases the phosphorylation at Ser-71 in a hierarchical manner, leading to increased activity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P07101", "url": "https://www.uniprot.org/uniprot/P07101" }, { "database": "PubMed", "id": "7901013", "url": "https://glygen.org/publication/PubMed/7901013" }, { "database": "PubMed", "id": "24947669", "url": "https://glygen.org/publication/PubMed/24947669" }, { "database": "PubMed", "id": "28637871", "url": "https://glygen.org/publication/PubMed/28637871" }, { "database": "PubMed", "id": "15287903", "url": "https://glygen.org/publication/PubMed/15287903" } ] } ], "interactions": [], "reactions": [ { "id": "18201", "name": "", "equation": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-dopa", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04177-1", "P07101-1", "P24529-1", "P18459-1" ], "evidence": [ { "id": "18201", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18201" } ] }, { "id": "R-HSA-209823", "name": "Tyrosine is hydroxylated to dopa", "equation": "", "summary": "Tyrosine hydroxylase (TH) is the first enzyme in catecholamine biosynthesis, as well as being the rate-limiting enzyme in that process. TH requires tetrahydrobiopterin and uses iron as a cofactor in the 3,4-hydroxylation of tyrosine to produce dopa. Four isoforms of TH are expressed in the human brain and all have enzymatic activity (Nagatsu, T, 1989; Lewis, DA et al, 1993).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07101-1" ], "evidence": [ { "id": "R-HSA-209823", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209823" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P04177", "gene_name": "Th", "activity": [ { "ec_number": "1.14.16.2", "activity": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-dopa.", "evidence": [ { "id": "P04177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04177" } ] }, { "ec_number": "1.14.16.2", "activity": "", "evidence": [ { "id": "P04177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04177" } ] } ] }, { "uniprot_ac": "P07101", "gene_name": "TH", "activity": 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