{ "uniprot_canonical_ac": "P11086-1", "uniprot_ac": "P11086", "uniprot_id": "PNMT_HUMAN", "mass": { "chemical_mass": 30855.0, "monoisotopic_mass": 30855.0 }, "refseq": { "ac": "NP_002677", "name": "phenylethanolamine N-methyltransferase", "summary": "The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677" }, "gene_names": [ { "name": "PNMT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11086", "id": "P11086" }, { "name": "PENT; PNMTase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677", "id": "NP_002677" }, { "name": "PENT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11086", "id": "P11086" }, { "name": "PNMT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677", "id": "NP_002677" } ], "protein_names": [ { "name": "Phenylethanolamine N-methyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11086" }, { "name": "2.1.1.28", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11086" }, { "name": "Noradrenaline N-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11086" }, { "name": "PNMTase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11086" }, { "name": "phenylethanolamine N-methylase; noradrenaline N-methyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677", "id": "NP_002677" }, { "name": "phenylethanolamine N-methyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677", "id": "NP_002677" } ], "function": [ { "annotation": "Catalyzes the transmethylation of nonepinephrine (noradrenaline) to form epinephrine (adrenaline), using S-adenosyl-L-methionine as the methyl donor (PubMed:20496117). Other substrates include phenylethanolamine and octopamine (PubMed:8812853, PubMed:16363801, PubMed:16277617). Also methylates normetanephrine (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086#function" }, { "database": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" }, { "database": "PubMed", "id": "16277617", "url": "https://glygen.org/publication/PubMed/16277617" }, { "database": "PubMed", "id": "8812853", "url": "https://glygen.org/publication/PubMed/8812853" }, { "database": "UniProtKB", "id": "P10937", "url": "https://www.uniprot.org/uniprot/P10937#function" }, { "database": "PubMed", "id": "20496117", "url": "https://glygen.org/publication/PubMed/20496117" } ] }, { "annotation": "Composite paraganglioma-ganglioneuroma with atypical catecholamine profile and phenylethanolamine N-methyltransferase expression: a case report and literature review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677" }, { "database": "PubMed", "id": "37952980", "url": "https://glygen.org/publication/PubMed/37952980" } ] }, { "annotation": "Overexpression of miR-375 and L-type Amino Acid Transporter 1 in Pheochromocytoma and Their Molecular and Functional Implications. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677" }, { "database": "PubMed", "id": "35269556", "url": "https://glygen.org/publication/PubMed/35269556" } ] }, { "annotation": "The effect of transcutaneous electrical nerve stimulation (TENS) on pain control and phenylethanolamine-N-methyltransferase (PNMT) gene expression after cesarean section. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677" }, { "database": "PubMed", "id": "34933717", "url": "https://glygen.org/publication/PubMed/34933717" } ] }, { "annotation": "The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_002677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 185, "end_pos": 185, "sequence_org": "E", "sequence_mut": "A", "comment": "Strongly reduced enzyme activity towards phenylethanolamine. Increases affinity for S-adenosyl-L-methionine.", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" } ] }, { "start_pos": 185, "end_pos": 185, "sequence_org": "E", "sequence_mut": "D", "comment": "Strongly reduced enzyme activity towards phenylethanolamine. Decreases affinity for phenylethanolamine and S-adenosyl-L-methionine 3-fold.", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" } ] }, { "start_pos": 185, "end_pos": 185, "sequence_org": "E", "sequence_mut": "Q", "comment": "Strongly reduced enzyme activity towards phenylethanolamine. Increases affinity for S-adenosyl-L-methionine.", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" } ] }, { "start_pos": 219, "end_pos": 219, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduced enzyme activity towards phenylethanolamine. Decreases affinity for phenylethanolamine 6-fold. Decreases affinity for S-adenosyl-L-methionine 2-fold.", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" } ] }, { "start_pos": 267, "end_pos": 267, "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly reduced enzyme activity towards phenylethanolamine. Decreases affinity for phenylethanolamine 200-fold. Decreases affinity for S-adenosyl-L-methionine 3-fold.", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" } ] }, { "start_pos": 267, "end_pos": 267, "sequence_org": "D", "sequence_mut": "N", "comment": "Strongly reduced enzyme activity towards phenylethanolamine. Decreases affinity for phenylethanolamine 200-fold. Decreases affinity for S-adenosyl-L-methionine 3-fold.", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" } ] }, { "start_pos": 35, "end_pos": 35, "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly increases KM for phenylethanolamine and S-adenosyl-L-methionine.", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "65.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "35.98", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "39.7", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "71.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "72.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "61.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "48.64", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "76.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "71.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141744", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141744" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11086", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11086" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": 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"url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11086", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11086" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"categories": [ "Protein Classification" ] }, { "id": "NP_002677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "12176", "url": "https://www.rhea-db.org/rhea/12176", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "25269", "url": "https://www.rhea-db.org/rhea/25269", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70519", "url": "https://www.rhea-db.org/rhea/70519", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70683", "url": "https://www.rhea-db.org/rhea/70683", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A8MT87", "url": "https://www.uniprot.org/uniprot/A8MT87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MT87-1", "url": "https://www.uniprot.org/uniprot/A8MT87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRI3", "url": "https://www.uniprot.org/uniprot/J3QRI3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRI3-1", "url": "https://www.uniprot.org/uniprot/J3QRI3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11086-1", "url": "https://www.uniprot.org/uniprot/P11086-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSGADRSPNAGAAPDSAPGQAAVASAYQRFEPRAYLRNNYAPPRGDLCNPNGVGPWKLRCLAQTFATGEVSGRTLIDIGSGPTVYQLLSACSHFEDITMTDFLEVNRQELGRWLQEEPGAFNWSMYSQHACLIEGKGECWQDKERQLRARVKRVLPIDVHQPQPLGAGSPAPLPADALVSAFCLEAVSPDLASFQRALDHITTLLRPGGHLLLIGALEESWYLAGEARLTVVPVSEEEVREALVRSGYKVRDLRTYIMPAHLQTGVDDVKGVFFAWAQKVGL", "length": 282, "header": "sp|P11086-1|PNMT_HUMAN Isoform 1 of Phenylethanolamine N-methyltransferase OS=Homo sapiens OX=9606 GN=PNMT PE=1 SV=1 CANONICAL=P11086-1" }, "isoforms": [ { "isoform_ac": "A8MT87-1", "url": "", "sequence": { "sequence": "MTDFLEVNRQELGRWLQEEPGAFNWSMYSQHACLIEGKGECWQDKERQLRARVKRVLPIDVHQPQPLGAGSPAPLPADALVSAFCLEAVSPDLASFQRALDHITTLLRPGGHLLLIGALEESWYLAGEARLTVVPVSEEEVREALVRSGYKVRDLRTYIMPAHLQTGVDDVKGVFFAWAQKVGL", "length": 184, "header": "tr|A8MT87-1|A8MT87_HUMAN Computationally mapped isoform of Phenylethanolamine N-methyltransferase OS=Homo sapiens OX=9606 GN=PNMT PE=1 SV=1 CANONICAL=P11086-1" }, "locus": { "chromosome": "17", "start_pos": 39670386, "end_pos": 39669721, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394246.1", "url": "https://www.ensembl.org/id/ENST00000394246.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000377791.1", "url": "https://www.ensembl.org/id/ENSP00000377791.1" } ] } }, { "isoform_ac": "J3QRI3-1", "url": "", "sequence": { "sequence": "MSGADRSPNAGAAPDSAPGQAAVASAYQRFEPRAYLRNNYAPPRGDLCNPNGVGPWKLRCLAQTFATGEVSGRTLIDIGSGPTVYQLLSACSHFEDITMTDFLEVNRQELGRWLQEEPGAFNWSMYSQHACLIEGKG", "length": 137, "header": "tr|J3QRI3-1|J3QRI3_HUMAN Computationally mapped isoform of Phenylethanolamine N-methyltransferase OS=Homo sapiens OX=9606 GN=PNMT PE=1 SV=1 CANONICAL=P11086-1" }, "locus": { "chromosome": "17", "start_pos": 39669837, "end_pos": 39668476, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581428.1", "url": "https://www.ensembl.org/id/ENST00000581428.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464234.1", "url": "https://www.ensembl.org/id/ENSP00000464234.1" } ] } }, { "isoform_ac": "P11086-1", "url": "", "sequence": { "sequence": "MSGADRSPNAGAAPDSAPGQAAVASAYQRFEPRAYLRNNYAPPRGDLCNPNGVGPWKLRCLAQTFATGEVSGRTLIDIGSGPTVYQLLSACSHFEDITMTDFLEVNRQELGRWLQEEPGAFNWSMYSQHACLIEGKGECWQDKERQLRARVKRVLPIDVHQPQPLGAGSPAPLPADALVSAFCLEAVSPDLASFQRALDHITTLLRPGGHLLLIGALEESWYLAGEARLTVVPVSEEEVREALVRSGYKVRDLRTYIMPAHLQTGVDDVKGVFFAWAQKVGL", "length": 282, "header": "sp|P11086-1|PNMT_HUMAN Isoform 1 of Phenylethanolamine N-methyltransferase OS=Homo sapiens OX=9606 GN=PNMT PE=1 SV=1 CANONICAL=P11086-1" }, "locus": { "chromosome": "17", "start_pos": 39670386, "end_pos": 39668476, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000269582.3", "url": "https://www.ensembl.org/id/ENST00000269582.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000269582.2", "url": "https://www.ensembl.org/id/ENSP00000269582.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 35, "end_pos": 35, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11086", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11086" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ], "site_lbl": "Tyr35" }, { "start_pos": 40, "end_pos": 40, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11086", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11086" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Tyr40" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11086", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11086" } ], "site_lbl": "Ser7" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Getting the adrenaline going: crystal structure of the adrenaline-synthesizing enzyme PNMT.", "journal": "Structure", "date": "2001", "authors": "Martin J L, Begun J, McLeish M J, Caine J M, Grunewald G L", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "reference": [ { "type": "PubMed", "id": "11591352", "url": "https://glygen.org/publication/PubMed/11591352" } ] }, { "title": "Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic L-amino acid decarboxylase, the enzyme for catecholamine and serotonin biosynthesis.", "journal": "Biochemistry", "date": "1992", "authors": "Sumi-Ichinose C, Ichinose H, Takahashi E, Hori T, Nagatsu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-209905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905" } ], "reference": [ { "type": "PubMed", "id": "1540578", "url": "https://glygen.org/publication/PubMed/1540578" } ] }, { "title": "Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics.", "journal": "Journal of neurochemistry", "date": "2005", "authors": "Ji Y, Salavaggione OE, Wang L, Adjei AA, Eckloff B, Wieben ED, Weinshilboum RM", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "reference": [ { "type": "PubMed", "id": "16277617", "url": "https://glygen.org/publication/PubMed/16277617" } ] }, { "title": "Mode of binding of methyl acceptor substrates to the adrenaline-synthesizing enzyme phenylethanolamine N-methyltransferase: implications for catalysis.", "journal": "Biochemistry", "date": "2005", "authors": "Gee CL, Tyndall JD, Grunewald GL, Wu Q, McLeish MJ, Martin JL", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "reference": [ { "type": "PubMed", "id": "16363801", "url": "https://glygen.org/publication/PubMed/16363801" } ] }, { "title": "Comparison of the binding of 3-fluoromethyl-7-sulfonyl-1,2,3,4-tetrahydroisoquinolines with their isosteric sulfonamides to the active site of phenylethanolamine N-methyltransferase.", "journal": "J. Med. Chem.", "date": "2006", "authors": "Grunewald Gary L, Seim Mitchell R, Regier Rachel C, Martin Jennifer L, Gee Christine L, Drinkwater Nyssa, Criscione Kevin R", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "reference": [ { "type": "PubMed", "id": "16942016", "url": "https://glygen.org/publication/PubMed/16942016" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P11086", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11086" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Enzyme adaptation to inhibitor binding: a cryptic binding site in phenylethanolamine N-methyltransferase.", "journal": "J. Med. Chem.", "date": "2007", "authors": "Gee Christine L, Drinkwater Nyssa, Tyndall Joel D A, Grunewald Gary L, Wu Qian, McLeish Michael J, Martin Jennifer L", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "reference": [ { "type": "PubMed", "id": "17845018", "url": "https://glygen.org/publication/PubMed/17845018" } ] }, { "title": "Expression of two forms of human dopamine-beta-hydroxylase in COS cells.", "journal": "Neuroscience letters", "date": "1991", "authors": "Ishii A, Kobayashi K, Kiuchi K, Nagatsu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-209905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905" } ], "reference": [ { "type": "PubMed", "id": "1857555", "url": "https://glygen.org/publication/PubMed/1857555" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P11086", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11086" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Discovery of novel human phenylethanolamine N-methyltransferase (hPNMT) inhibitors using 3D pharmacophore-based in silico, biophysical screening and enzymatic activity assays.", "journal": "Molecules and cells", "date": "2010-06", "authors": "Kang Dong-Il, Lee Jee-Young, Kim Woonghee, Jeong Ki-Woong, Shin Soyoung, Yang Jiyoung, Park Eujin, Chae Young Kee, Kim Yangmee", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "reference": [ { "type": "PubMed", "id": "20496117", "url": "https://glygen.org/publication/PubMed/20496117" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "iPTMnet", "id": "P11086", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11086" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Isolation and characterization of a cDNA clone encoding human aromatic L-amino acid decarboxylase.", "journal": "Biochemical and biophysical research communications", "date": "1989", "authors": "Ichinose H, Kurosawa Y, Titani K, Fujita K, Nagatsu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-209905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905" } ], "reference": [ { "type": "PubMed", "id": "2590185", "url": "https://glygen.org/publication/PubMed/2590185" } ] }, { "title": "Transgenic mice express the human phenylethanolamine N-methyltransferase gene in adrenal medulla and retina.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1988", "authors": "Baetge E E, Behringer R R, Messing A, Brinster R L, Palmiter R D", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "reference": [ { "type": "PubMed", "id": "2835776", "url": "https://glygen.org/publication/PubMed/2835776" } ] }, { "title": "Molecular cloning of cDNA and chromosomal assignment of the gene for human phenylethanolamine N-methyltransferase, the enzyme for epinephrine biosynthesis.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Kaneda N, Ichinose H, Kobayashi K, Oka K, Kishi F, Nakazawa A, Kurosawa Y, Fujita K, Nagatsu T", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" }, { "database": "Reactome", "id": "R-HSA-209905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209905" } ], "reference": [ { "type": "PubMed", "id": "3372503", "url": "https://glygen.org/publication/PubMed/3372503" } ] }, { "title": "The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme.", "journal": "The EMBO journal", "date": "1987", "authors": "Lamouroux A, Vigny A, Faucon Biguet N, Darmon MC, Franck R, 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": "The effect of transcutaneous electrical nerve stimulation (TENS) on pain control and phenylethanolamine-N-methyltransferase (PNMT) gene expression after cesarean section.", "journal": "Cellular and molecular biology (Noisy-le-Grand, France)", "date": "2021", "authors": "Chen W, Liu C, Yang Y, Tian L", "evidence": [ { "database": "RefSeq", "id": "NP_002677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677" } ], "reference": [ { "type": "PubMed", "id": "34933717", "url": "https://glygen.org/publication/PubMed/34933717" } ] }, { "title": "Overexpression of miR-375 and L-type Amino Acid Transporter 1 in Pheochromocytoma and Their Molecular and Functional Implications.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Manso J, Bertazza L, Barollo S, Mondin A, Censi S, Carducci S, Ferrara AM, Boschin IM, Zovato S, Schiavi F, Gregianin M, Pennelli G, Iacobone M, Mian C", "evidence": [ { "database": "RefSeq", "id": "NP_002677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677" } ], "reference": [ { "type": "PubMed", "id": "35269556", "url": "https://glygen.org/publication/PubMed/35269556" } ] }, { "title": "Composite paraganglioma-ganglioneuroma with atypical catecholamine profile and phenylethanolamine N-methyltransferase expression: a case report and literature review.", "journal": "Endocrine journal", "date": "2023-11-11", "authors": "Sasaki Yuriko, Kanzawa Maki, Yamamoto Masaaki, Kanie Keitaro, Bando Hironori, Yoshino Kei, Hirota Yushi, Shigemura Katsumi, Fujisawa Masato, Ogawa Wataru, Fukuoka Hidenori", "evidence": [ { "database": "RefSeq", "id": "NP_002677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002677" } ], "reference": [ { "type": "PubMed", "id": "37952980", "url": "https://glygen.org/publication/PubMed/37952980" } ] }, { "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": "Recombinant human phenylethanolamine N-methyltransferase: overproduction in Escherichia coli, purification, and characterization.", "journal": "Protein expression and purification", "date": "1996-09", "authors": "Caine J M, Macreadie I G, Grunewald G L, McLeish M J", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "reference": [ { "type": "PubMed", "id": "8812853", "url": "https://glygen.org/publication/PubMed/8812853" } ] } ], "pathway": [ { "id": "hsa:5409", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5409", "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": "P10937-1", "protein_name": "Phenylethanolamine N-methyltransferase", "gene_name": "Pnmt", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDRGSDPKHTAGMDSDSDPGQAEVALAYQRFEPRAYLRNNYAPPRGDLSNPDGVGPWKLRCMAQVFATGEVSGQVLIDIGSGPTIYQLLSACAHFEDITMTDFLEVNRQELGLWLREEPGAFDWSVYSQHVCLIEDKGESWQEKERQLRARVKRVLPIDVHKPQPLGASGLAPLPADALVSAFCLEAVSPDLPSFRQALYHITTLLRPGGNLLFIGALEESWYLAGEARLSVVPVSEEEVREALVCSGYEVRDLRTYIMPAHLRTGVDDVKGIFFAWAQKIEVQV", "length": 285 }, "evidence": [ { "id": "45935778", "url": "http://www.informatics.jax.org/homology/45935778", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P40935-1", "protein_name": "Phenylethanolamine N-methyltransferase", "gene_name": "Pnmt", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNGGSDLKHATGSGSDPKHAAEMDPDSDAGQVAVALAYQRFEPRAYLRNNYAPPRGDLSNPDGVGPWKLRCMAQVFATGEVSGRVLIDIGSGPTIYQLLSACAHFEDITMTDFLEVNRQELGLWLREEPGAFDWSVYSQHACLIEDKGESWQEKERQLRARVKRVLPIDVHKPQPLGTPSLVPLPADALVSAFCLEAVSPDLTSFQRALHHITTLLRPGGHLLLIGALEESWYLAGEARLSVVPVSEEEVREALVLGGYEVRELRTYIMPAHLCTGVDDVKGIFFAWAQKMEVQV", "length": 295 }, "evidence": [ { "id": "45935778", "url": "http://www.informatics.jax.org/homology/45935778", "database": "MGI" }, { "id": "P11086", "url": "https://omabrowser.org/oma/group/P11086/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q06AU9-1", "protein_name": "Phenylethanolamine N-methyltransferase", "gene_name": "PNMT", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MSGTGQSHAADAAPDSDPGQAAVALAYQHFEPRAYLRNNYAPPRGDLSSPDGVGPWKLRCLAQTFATGEVSGRALIDIGSGPTIYQLLSACAHFEDITMTDFLEVNRQELGLWLREEPGAFDWSVYSQHVCLIEGKGESCQEKERQLRARVKRILPIDVHQPQPLGTGSLAPLPADALVSAFCLEAVSPDLASFQRALDHITTLLRSGGHLLLIGALEESWYLAGEARLAVVPVCEEEVREALARSGYEVRDLRTYVMPAHLRTGVDDVKGIFFAWAQKKVGV", "length": 283 }, "evidence": [ { "id": "P11086", "url": "https://omabrowser.org/oma/group/P11086/", "database": "OMA" } ], "common_name": "Pig" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "S-adenosylmethionine-dependent methyltransferase activity", "id": "GO:0008757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008757", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "pmid": "" }, { "name": "phenylethanolamine N-methyltransferase activity", "id": "GO:0004603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004603", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "pmid": "" }, { "name": "epinephrine biosynthetic process", "id": "GO:0042418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042418", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "pmid": "" }, { "name": "catecholamine biosynthetic process", "id": "GO:0042423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042423", "evidence": [ { "database": "UniProtKB", "id": "P11086", "url": "https://www.uniprot.org/uniprot/P11086" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 122, "end_pos": 124, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12176", "name": "", "equation": "phenylethanolamine + S-adenosyl-L-methionine = H(+) + N-methylphenylethanolamine + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10937-1", "P11086-1", "P40935-1" ], "evidence": [ { "id": "12176", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12176" } ] }, { "id": "25269", "name": "", "equation": "(R)-noradrenaline + S-adenosyl-L-methionine = (R)-adrenaline + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10937-1", "P11086-1", "P40935-1" ], "evidence": [ { "id": "25269", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/25269" } ] }, { "id": "70519", "name": "", "equation": "(R)-octopamine + S-adenosyl-L-methionine = (R)-synephrine + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10937-1", "P11086-1", "P40935-1" ], "evidence": [ { "id": "70519", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70519" } ] }, { "id": "70683", "name": "", "equation": "(R)-normetanephrine + S-adenosyl-L-methionine = (R)-metanephrine + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10937-1", "P11086-1", "P40935-1" ], "evidence": [ { "id": "70683", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70683" } ] }, { "id": "R-HSA-209903", "name": "Noradrenaline is converted to adrenaline", "equation": "", "summary": "Phenylethanolamine N-methyltransferase (PNMT) is the terminal enzyme in catecholamine biosynthesis. 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