{ "uniprot_canonical_ac": "O95050-1", "uniprot_ac": "O95050", "uniprot_id": "INMT_HUMAN", "mass": { "chemical_mass": 28891.0, "monoisotopic_mass": 28891.0 }, "refseq": { "ac": "NP_001186148", "name": "indolethylamine N-methyltransferase isoform 2", "summary": "N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream MINDY4 (aka FAM188B) gene. In rodents and other mammals such as cetartiodactyla this gene is in the opposite orientation compared to its orientation in human and other primates and this gene appears to have been lost in carnivora and chiroptera. [provided by RefSeq, Jul 2019].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" }, "gene_names": [ { "name": "INMT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95050", "id": "O95050" }, { "name": "INMT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148", "id": "NP_001186148" }, { "name": "TEMT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148", "id": "NP_001186148" } ], "protein_names": [ { "name": "Indolethylamine N-methyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95050" }, { "name": "2.1.1.49", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95050" }, { "name": "2.1.1.96", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95050" }, { "name": "Amine N-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95050" }, { "name": "Aromatic alkylamine N-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95050" }, { "name": "Arylamine N-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95050" }, { "name": "Indolamine N-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95050" }, { "name": "TEMT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95050" }, { "name": "Thioether S-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95050" }, { "name": "aromatic alkylamine N-methyltransferase; arylamine N-methyltransferase; amine N-methyltransferase; nicotine N-methyltransferase; indolamine N-methyltransferase; thioether S-methyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148", "id": "NP_001186148" }, { "name": "indolethylamine N-methyltransferase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148", "id": "NP_001186148" } ], "function": [ { "annotation": "Analysis of 254C and 254F variants of hINMT reveals differences in methylation of tryptamine, dimethylsulfide and dimethylselenide Erratum:[PLoS One. 2019 Oct 1;14(10):e0223546. PMID: 31574131] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" }, { "database": "PubMed", "id": "31310642", "url": "https://glygen.org/publication/PubMed/31310642" } ] }, { "annotation": "Functions as a thioether S-methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3-methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2-methylthioethylamine, 2-methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity). Catalyzes the N-methylation of tryptamine and structurally related compounds.", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050#function" }, { "database": "PubMed", "id": "10552930", "url": "https://glygen.org/publication/PubMed/10552930" } ] }, { "annotation": "Genome-wide association studies in populations in Argentina/Bangladeshi: Three SNPs in INMT (rs6970396, rs1061644, rs4270015) are associated with production of trimethylselenonium (TMSe); urinary Se excretion is up-regulated in TMSe-producing women.", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" }, { "database": "PubMed", "id": "26537946", "url": "https://glygen.org/publication/PubMed/26537946" } ] }, { "annotation": "N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream MINDY4 (aka FAM188B) gene. In rodents and other mammals such as cetartiodactyla this gene is in the opposite orientation compared to its orientation in human and other primates and this gene appears to have been lost in carnivora and chiroptera. [provided by RefSeq, Jul 2019].", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" } ] }, { "annotation": "Study suggests that rs77743549 of INMT may be associated with the risk for Hirschsprung's disease", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" }, { "database": "PubMed", "id": "26183064", "url": "https://glygen.org/publication/PubMed/26183064" } ] }, { "annotation": "Targeting INMT and interrupting its methylation pathway for the treatment of castration resistant prostate cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" }, { "database": "PubMed", "id": "34587977", "url": "https://glygen.org/publication/PubMed/34587977" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95050", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95050" } ], "glycoeffect": [], "start_pos": 89, "end_pos": 89, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "30753842", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R89", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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": 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"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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"score": "67.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000241644", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241644" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241644", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241644" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241644", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241644" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241644", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241644" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000241644", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241644" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241644", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241644" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241644", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241644" } ] }, { "tissue": { "name": "Prostate 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"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": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95050", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95050" } ], "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": 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"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": "O95050", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95050" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95050" } ], "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": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "23136", "url": "https://www.rhea-db.org/rhea/23136", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "53924", "url": "https://www.rhea-db.org/rhea/53924", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "53928", "url": "https://www.rhea-db.org/rhea/53928", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95050-1", "url": "https://www.uniprot.org/uniprot/O95050-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95050-2", "url": "https://www.uniprot.org/uniprot/O95050-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKGGFTGGDEYQKHFLPRDYLATYYSFDGSPSPEAEMLKFNLECLHKTFGPGGLQGDTLIDIGSGPTIYQVLAACDSFQDITLSDFTDRNREELEKWLKKEPGAYDWTPAVKFACELEGNSGRWEEKEEKLRAAVKRVLKCDVHLGNPLAPAVLPLADCVLTLLAMECACCSLDAYRAALCNLASLLKPGGHLVTTVTLRLPSYMVGKREFSCVALEKEEVEQAVLDAGFDIEQLLHSPQSYSVTNAANNGVCFIVARKKPGP", "length": 263, "header": "sp|O95050-1|INMT_HUMAN Isoform 1 of Indolethylamine N-methyltransferase OS=Homo sapiens OX=9606 GN=INMT PE=1 SV=3 CANONICAL=O95050-1" }, "isoforms": [ { "isoform_ac": "O95050-1", "url": "", "sequence": { "sequence": "MKGGFTGGDEYQKHFLPRDYLATYYSFDGSPSPEAEMLKFNLECLHKTFGPGGLQGDTLIDIGSGPTIYQVLAACDSFQDITLSDFTDRNREELEKWLKKEPGAYDWTPAVKFACELEGNSGRWEEKEEKLRAAVKRVLKCDVHLGNPLAPAVLPLADCVLTLLAMECACCSLDAYRAALCNLASLLKPGGHLVTTVTLRLPSYMVGKREFSCVALEKEEVEQAVLDAGFDIEQLLHSPQSYSVTNAANNGVCFIVARKKPGP", "length": 263, "header": "sp|O95050-1|INMT_HUMAN Isoform 1 of Indolethylamine N-methyltransferase OS=Homo sapiens OX=9606 GN=INMT PE=1 SV=3 CANONICAL=O95050-1" }, "locus": { "chromosome": "7", "start_pos": 30755848, 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Biol. Evol.", "date": "2004", "authors": "Kitano Takashi, Liu Yu-Hua, Ueda Shintaroh, Saitou Naruya", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "reference": [ { "type": "PubMed", "id": "15014171", "url": "https://glygen.org/publication/PubMed/15014171" } ] }, { "title": "Potential Association of INMT Nonsynonymous Variant (His46Pro) with Hirschsprung's Disease.", "journal": "Neonatology", "date": "2015", "authors": "Kim JY, Seo JM, Kim DY, Oh JT, Park KW, Kim HY, Jung K, Park BL, Kim JH, Shin HD", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" } ], "reference": [ { "type": "PubMed", "id": "26183064", "url": "https://glygen.org/publication/PubMed/26183064" } ] }, { "title": "Selenium metabolism to the trimethylselenonium ion (TMSe) varies markedly because of polymorphisms in the indolethylamine N-methyltransferase gene.", "journal": "The American journal of clinical nutrition", "date": "2015", "authors": "Kuehnelt D, Engstrom K, Skroder H, Kokarnig S, Schlebusch C, Kippler M, Alhamdow A, Nermell B, Francesconi K, Broberg K, Vahter M", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" } ], "reference": [ { "type": "PubMed", "id": "26537946", "url": "https://glygen.org/publication/PubMed/26537946" } ] }, { "title": "Human indole(ethyl)amine-N-methyltransferase (hINMT) catalyzed methylation of tryptamine, dimethylsulfide and dimethylselenide is enhanced under reducing conditions - A comparison between 254C and 254F, two common hINMT variants.", "journal": "PloS one", "date": "2019", "authors": "Torres B, Tyler JS, Satyshur KA, Ruoho AE", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" } ], "reference": [ { "type": "PubMed", "id": "31310642", "url": "https://glygen.org/publication/PubMed/31310642" } ] }, { "title": "S-adenosyl-L-methionine:thioether S-methyltransferase, a new enzyme in sulfur and selenium metabolism.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Mozier NM, McConnell KP, Hoffman JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2408552", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2408552" } ], "reference": [ { "type": "PubMed", "id": "3350800", "url": "https://glygen.org/publication/PubMed/3350800" } ] }, { "title": "Targeting INMT and interrupting its methylation pathway for the treatment of castration resistant prostate cancer.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2021", "authors": "Zhong S, Jeong JH, Huang C, Chen X, Dickinson SI, Dhillon J, Yang L, Luo JL", "evidence": [ { "database": "RefSeq", "id": "NP_001186148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186148" } ], "reference": [ { "type": "PubMed", "id": "34587977", "url": "https://glygen.org/publication/PubMed/34587977" } ] } ], "pathway": [ { "id": "hsa:11185", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11185", "resource": "KEGG Pathway" }, { "id": "R-HSA-2408552", "name": "Methylation of MeSeH for excretion", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2408552", "resource": "Reactome", "description": "Methylation of MeSeH for excretion" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A287B0Z8-1", "protein_name": "Indolethylamine N-methyltransferase isoform 1", "gene_name": "INMT", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MEGKLYRGEDYKEFDSQDYLKTYYTFDSGTVAENEILKFNLKNLFQTFSSGGVGGDILIDIGTGPTIYQLLSACEVFREIIVSDYTDQNLREVEKWLKEEPGAYDWSPAVQYVCELEGDRSRWQEKEARLRRTVTRLLKCDVTEPHPLGPAQVLPADCVLTLLALECACHDVDTYRAAIRNLVSLLKPGGYLVTAVTLGFQGYIVGNKNFFGLHLEKETVEKALQDAGCQVLRCQHSPISYTETFCISKGMCFAVARKSPSA", "length": 262 }, "evidence": [ { "id": "O95050", "url": "https://omabrowser.org/oma/group/O95050/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "D3ZNJ5-1", "protein_name": "Indolethylamine N-methyltransferase", "gene_name": "Inmt", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAGKVYMGGEDYEKEFTPKDYLTTFYSFDSGTVAEQEIVKFSLQNLYQTFSTGGVGGDVLIDIGSGPTIYQLLSACEVFREIIATDYTPQNLQELQKWLKKEPGAYDWSSIVQHVCELEGDRSRWQEKEAKLRRTVTRVLRCDVTKTPPLGSAQVPLADCVLTFLAMECACPDVDTYRAALRRLAGLLKPGGHLVTLVTLRFQHYMVGPKKFSGVYLEKETVEKAIQDAGFQVLRCNCVSLSYSEAYCVNDGLYFVVARKGPSA", "length": 264 }, "evidence": [ { "id": "45929741", "url": "http://www.informatics.jax.org/homology/45929741", "database": "MGI" }, { "id": "O95050", "url": "https://omabrowser.org/oma/group/O95050/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P40936-1", "protein_name": "Indolethylamine N-methyltransferase", "gene_name": "Inmt", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEGKVYIGGEDYEKEFTPKDYLTTYYSFHSGPVAEQEIVKFSLQNLYQTFSTGGVGGDVLIDIGSGPTIYQLLSACEVFREIIVTDYTPQNLQELQKWLKKEPGAYDWSSIVQHACELEGDRSRWQEKEAKLRRTVTRVLRCDVTKTPPLGSAQVPLADCVLTFLAMECACPDIDTYRAALRRLAGLLKPGGHLVTLVTLRFQHYMVGPKKFSGVYLEKEVVEKAIQDAGCQVLKCNCVSLSYSEAYCSHDGLCFVVARKGPSA", "length": 264 }, "evidence": [ { "id": "45929741", "url": "http://www.informatics.jax.org/homology/45929741", "database": "MGI" }, { "id": "O95050", "url": "https://omabrowser.org/oma/group/O95050/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "thioether S-methyltransferase activity", "id": "GO:0004790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004790", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "pmid": "" }, { "name": "amine N-methyltransferase activity", "id": "GO:0030748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030748", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "pmid": "" }, { "name": "S-adenosyl-L-methionine:beta-alanine N-methyltransferase activity", "id": "GO:0102707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102707", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "pmid": "" }, { "name": "N-methyltransferase activity", "id": "GO:0008170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008170", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "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": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "pmid": "" }, { "name": "amine metabolic process", "id": "GO:0009308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009308", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "O95050", "url": "https://www.uniprot.org/uniprot/O95050" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19613", "name": "", "equation": "dimethyl sulfide + S-adenosyl-L-methionine = S-adenosyl-L-homocysteine + trimethylsulfonium", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95050-1", "P40936-1" ], "evidence": [ { "id": "19613", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19613" } ] }, { "id": "23136", "name": "", "equation": "a primary amine + S-adenosyl-L-methionine = a methylated primary amine + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95050-1", "P40936-1" ], "evidence": [ { "id": "23136", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23136" } ] }, { "id": "53924", "name": "", "equation": "a secondary amine + S-adenosyl-L-methionine = a methylated secondary amine + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95050-1", "P40936-1" ], "evidence": [ { "id": "53924", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53924" } ] }, { "id": "53928", "name": "", "equation": "a tertiary amine + S-adenosyl-L-methionine = a methylated tertiary amine + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95050-1", "P40936-1" ], "evidence": [ { "id": "53928", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53928" } ] }, { "id": "R-HSA-2408554", "name": "Me2Se is methylated to Me3Se+ by INMT", "equation": "", "summary": "Indolethylamine N-methyltransferase (INMT) is involved in the methylation of dimethyl selenide (Me2Se) into trimethylselenonium (Me3Se+) in tandem with S-adenosylmethionine (AdoMet) transforming into S-adenosylhomocysteine (AdoHcy). This reaction is inferred from the event in mouse (Mozier et al. 1988).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-5357673" ], "output_participant_list": [ "R-ALL-5357659" ], "enzyme_list": [ "O95050-1" ], "evidence": [ { "id": "R-HSA-2408554", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2408554" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-5357659", "participant_name": "Me3Se+ [cytosol]", "crossref": [ { "id": "HMDB0042052", "database": "HMDB Metabolite", "url": "" }, { "id": "77058", "database": "ChEBI", "url": "" }, { "id": "C18872", "database": "COMPOUND", "url": "" }, { "id": "77058", "database": "ChEBI", "url": "" }, { "id": "C18872", "database": "COMPOUND", "url": "" }, { "id": "HMDB0042052", "database": "HMDB Metabolite", "url": "" } ] }, { "participant_id": "R-ALL-5357673", "participant_name": "Me2Se [cytosol]", "crossref": [ { "id": "4610", "database": "ChEBI", "url": "" }, { "id": "HMDB0033212", "database": "HMDB Metabolite", "url": "" }, { "id": "C02535", "database": "COMPOUND", "url": "" }, { "id": "4610", "database": "ChEBI", "url": "" }, { "id": "HMDB0033212", "database": "HMDB Metabolite", "url": "" }, { "id": "C02535", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O95050", "gene_name": "INMT", "activity": [ { "ec_number": "2.1.1.49", "activity": "a secondary amine + S-adenosyl-L-methionine = a methylated secondary amine + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "O95050", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95050" } ] }, { "ec_number": "2.1.1.96", "activity": "dimethyl sulfide + S-adenosyl-L-methionine = S-adenosyl-L-homocysteine + trimethylsulfonium.", "evidence": [ { "id": "O95050", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95050" } ] }, { "ec_number": "2.1.1.96", "activity": "", "evidence": [ { "id": "O95050", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95050" } ] }, { "ec_number": "2.1.1.49", "activity": "", "evidence": [ { "id": "O95050", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95050" } ] } ] }, { "uniprot_ac": "P40936", "gene_name": "Inmt", "activity": [ { "ec_number": "2.1.1.49", "activity": "a secondary amine + S-adenosyl-L-methionine = a methylated secondary amine + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "P40936", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40936" } ] }, { "ec_number": "2.1.1.96", "activity": "dimethyl sulfide + S-adenosyl-L-methionine = S-adenosyl-L-homocysteine + trimethylsulfonium.", "evidence": [ { "id": "P40936", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40936" } ] }, { "ec_number": "2.1.1.49", "activity": "", "evidence": [ { "id": "P40936", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40936" } ] }, { "ec_number": "2.1.1.96", "activity": "", "evidence": [ { "id": "P40936", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40936" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 89 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", 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