{ "uniprot_canonical_ac": "A1Y9I9-1", "ptm_annotation": [], "sequence": { "header": "sp|A1Y9I9-1|TOMT_MOUSE Isoform 1 of Transmembrane O-methyltransferase homolog OS=Mus musculus OX=10090 GN=Tomt PE=1 SV=1 CANONICAL=A1Y9I9-1", "length": 258, "sequence": "MSPAIALAFLPLVVTLLVRYRHHFRLLVRTVLLRGFRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSCCEYLSHMGPVKGQILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGSRLLTVERDSRTAAVAEKVIRLAGFDEQMVELIAGSSEEVIPRLRAQHQLNRADLVLLAHRPRYYLRDLQLLEAHALLPHGATVLADHVLFPGAPRFLQYTKSCGRYRCRLHHTSLPDFPAIKDGIAQLTYTGPG" }, "uniprot_id": "TOMT_MOUSE", "enzyme_annotation": [ { "ec": "2.1.1.6", "activity": "" }, { "ec": "2.1.1.6", "activity": "S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol." } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18794526", "type": [ "PubMed" ], "id": "18794526" } ], "title": "A catechol-O-methyltransferase that is essential for auditory function in mice and humans.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "id": "NP_001075148.1", "database": "RefSeq" } ], "authors": "Najmabadi H., Mueller U., Smith R.J.H., Du X., Hildebrand M.S., Richardson H., Ryan A.F., Beutler B., Schwander M., Haller C., Koob G., Moresco E.M.Y., Pak K., Roberts A., Tarantino L., Viviani P.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18953341", "type": [ "PubMed" ], "id": "18953341" } ], "title": "Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.", "journal": "Nat. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "id": "NP_001075148.1", "database": "RefSeq" } ], "authors": "Venselaar H., Kalay E., Ahmed Z.M., Kremer H., Morell R.J., Riazuddin S., Ayadi H., Masmoudi S., Oostrik J., Belyantseva I.A., Friedman T.B., Griffith A.J., Riazuddin S.', Collin R.W.J., Riazuddin S.A., van der Zwaag B., Karaguzel A., Ghorbel A., Caylan R., Khan S.Y., Ayadi L., Charfedine I., Hmani-Aifa M., Kawar M.N., Mosrati M.A., Tlili A.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28504928", "type": [ "PubMed" ], "id": "28504928" } ], "title": "The murine catecholamine methyltransferase mTOMT is essential for mechanotransduction by cochlear hair cells.", "journal": "eLife", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "id": "NP_001075148.1", "database": "RefSeq" } ], "authors": "Cunningham CL, Wu Z, Jafari A, Zhao B, Schrode K, Harkins-Perry S, Lauer A, Muller U", "date": "2017" } ], "uniprot_ac": "A1Y9I9", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9#A1Y9I9-1", "isoform_ac": "A1Y9I9-1", "locus": { "end_pos": 101900306, "strand": "+", "start_pos": 101902271, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000106969", "id": "ENSMUST00000106969", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000102582", "id": "ENSMUSP00000102582", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1Y9I9-1|TOMT_MOUSE Isoform 1 of Transmembrane O-methyltransferase homolog OS=Mus musculus OX=10090 GN=Tomt PE=1 SV=1 CANONICAL=A1Y9I9-1", "length": 258, "sequence": "MSPAIALAFLPLVVTLLVRYRHHFRLLVRTVLLRGFRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSCCEYLSHMGPVKGQILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGSRLLTVERDSRTAAVAEKVIRLAGFDEQMVELIAGSSEEVIPRLRAQHQLNRADLVLLAHRPRYYLRDLQLLEAHALLPHGATVLADHVLFPGAPRFLQYTKSCGRYRCRLHHTSLPDFPAIKDGIAQLTYTGPG" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:791260", "resource": "KEGG Pathway", "id": "mmu:791260", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-379397", "resource": "Reactome", "id": "R-MMU-379397", "name": "Enzymatic degradation of dopamine by COMT" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9#function", "annotation": "Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (PubMed:18794526). Required for auditory function (PubMed:18794526, PubMed:28504928). Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (PubMed:28504928).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9#function", "id": "A1Y9I9", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "annotation": "Mice homozygous for a missense mutation in Comt2 show vestibular impairment, profound sensorineuronal deafness, and progressive degeneration of the organ of Corti", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "id": "NP_001075148.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "annotation": "These studies thus suggest functional diversification between mCOMT and mTOMT, where mTOMT is critical for the assembly of the mechanotransduction machinery of hair cells. Erratum:[Elife. 2017 Nov 08;6:. PMID: 29116042] Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "id": "NP_001075148.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "B6CZ62-1", "protein_name": "Transmembrane O-methyltransferase homolog", "sequence": { "length": 258, "sequence": "MSPAIALAFLPLVVTLLVRYRHHFRLLVRTVLLRSFRDCLSGLRIEERAFSYVITHALPGDPGHILTTLDHWSSCCEYLSHMGPIKGQILMRLVEEKAPACVLELGTHCGYSTLLIARALPPGSRLLTVERDSRTAAVAEKVIRLAGFDEQMVELIAGSSEEVIPRLRAQHQLNRADLVLLAHRPRYYLRDLQLLEAHALLPHGATVLADHVLFPGAPRFLQYTKSCGRYRCRLHHTSLPDFPAIKDGIAQLTYTGPG" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1Y9I9/", "id": "A1Y9I9", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/19664", "id": "19664", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Tomt", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8WZ04-1", "protein_name": "Transmembrane O-methyltransferase", "sequence": { "length": 291, "sequence": "MGTPWRKRKGIAGPGLPDLSCALVLQPRAQVGTMSPAIALAFLPLVVTLLVRYRHYFRLLVRTVLLRSLRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKGQILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGGRLLTVERDPRTAAVAEKLIRLAGFDEHMVELIVGSSEDVIPCLRTQYQLSRADLVLLAHRPRCYLRDLQLLEAHALLPAGATVLADHVLFPGAPRFLQYAKSCGRYRCRLHHTGLPDFPAIKDGIAQLTYAGPG" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1Y9I9/", "id": "A1Y9I9", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/19664", "id": "19664", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "LRTOMT", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "ac": "NP_001075148.1", "name": "transmembrane O-methyltransferase homolog", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008171", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "O-methyltransferase activity", "id": "GO:0008171" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016206", "pmid": "18794526", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "catechol O-methyltransferase activity", "id": "GO:0016206" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102084", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "L-dopa O-methyltransferase activity", "id": "GO:0102084" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102938", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "orcinol O-methyltransferase activity", "id": "GO:0102938" } ], "total": 4, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "28504928", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "28504928", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "pmid": "28504928", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "apical part of cell", "id": "GO:0045177" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904591", "pmid": "28504928", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "positive regulation of protein import", "id": "GO:1904591" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "developmental process", "id": "GO:0032502" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "pmid": "18794526", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "sensory perception of sound", "id": "GO:0007605" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "pmid": "28504928", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "sensory perception of sound", "id": "GO:0007605" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "dopamine metabolic process", "id": "GO:0042417" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060117", "pmid": "18794526", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "auditory receptor cell development", "id": "GO:0060117" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042424", "pmid": "18794526", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "catecholamine catabolic process", "id": "GO:0042424" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042135", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "neurotransmitter catabolic process", "id": "GO:0042135" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "name": "methylation", "id": "GO:0032259" } ], "total": 9, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "type": "synonym", "resource": "UniProtKB", "name": "Comt2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1Y9I9", "type": "synonym", "resource": "RefSeq", "name": "Comt; Comt2; F930017I19Rik" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1Y9I9", "type": "synonym", "resource": "RefSeq", "name": "Tomt" }, { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "type": "recommended", "resource": "UniProtKB", "name": "Tomt" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000078630", "id": "ENSMUSG00000078630", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/791260", "id": "791260", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR002935", "id": "IPR002935", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029063", "id": "IPR029063", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR033025", "id": "IPR033025", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:791260", "id": "mmu:791260", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:3769724", "id": "3769724", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/EERAYQY/", "id": "EERAYQY", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1274244at2759", "id": "1274244at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43836:SF1", "id": "PTHR43836:SF1", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF01596", "id": "PF01596", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A1Y9I9", "id": "PR_A1Y9I9", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-379397", "id": "R-MMU-379397", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075148.1", "id": "NP_001075148.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [ { "sequence_org": "Y", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28504928", "id": "28504928", "database": "PubMed" } ], "sequence_mut": "A", "start_pos": 108, "end_pos": 108, "annotation": "Is able to rescue the mechanotransduction defect of L-48." }, { "sequence_org": "H", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28534737", "id": "28534737", "database": "PubMed" } ], "sequence_mut": "A", "start_pos": 183, "end_pos": 183, "annotation": "Enhanced interaction with TMC1." }, { "sequence_org": "HHFR", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28504928", "id": "28504928", "database": "PubMed" } ], "sequence_mut": "", "start_pos": 22, "end_pos": 25, "annotation": "Absence of auditory brain stem response (ABR) to click stimuli demonstrates that the mice are profoundly deaf. Distortion product otoacoustic emissions (DPOAEs) are absent at 4 weeks of age at all frequencies tested. Normal hair bundle morphology as at postnatal day (P) 5 the sensory epithelia are patterned into three rows of outer hair cells (OHCs) and one row of inner hair cells (IHCs). The bundles of OHCs appear similar in size to those of wild-type mice and form a normal staircase pattern." }, { "sequence_org": "R", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "id": "A1Y9I9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28504928", "id": "28504928", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18794526", "id": "18794526", "database": "PubMed" } ], "sequence_mut": "L", "start_pos": 48, "end_pos": 48, "annotation": "In add; reduces methyltransferase activity; causes hyperkinesis, circling, head-tossing, aggression, progressive degeneration of the organ of Corti, hair cell defects and profound deafness. Distortion product otoacoustic emissions (DPOAEs) are absent at 4 weeks of age at all frequencies tested. At postnatal day (P) 5 the sensory epithelia are patterned into three rows of outer hair cells (OHCs) and one row of inner hair cells (IHCs) with no obvious structural abnormalities. The bundles of OHCs appear similar in size to those of wild-type mice and form a normal staircase pattern. The hair bundles of OHCs have a slightly more rounded morphology, especially in basal regions of the cochlea. The morphology of IHCs is not significantly altered. Hair cells are maintained in the presence of gentamicin, an aminoglycoside antibiotic that enters hair cells through their transduction channels and normally causes hair cell death. Mechanotransduction currents are very small in P4 hair cells and completely absent in P7 hair cells. Membrane potential, outward-evoked currents and nonlinear capacitance are normal in OHCs. No difference in the expression or localization of tip link proteins CDH23 and PCDH15 or ATP2B2, MYO7A, ESPN and WHRN proteins at P5-P8 in hair bundles of hair cells. No difference in the number of tip links in IHCs and OHCs at P7-P8. No difference in the levels of catecholamines, including norepinephrine, homovanillic acid (HVA) and norepinephrine, or serotonin levels in the inner ear. Loss of reverse polarity currents." } ], "disease": [ { "synonyms": [ { "id": "MONDO:0012670", "url": "https://monarchinitiative.org/disease/MONDO:0012670", "resource": "MONDO", "name": "deafness, autosomal recessive 63", "description": "" }, { "id": "MONDO:0012670", "url": "https://monarchinitiative.org/disease/MONDO:0012670", "resource": "MONDO", "name": "deafness, autosomal recessive 63; DFNB63", "description": "" }, { "id": "MONDO:0012670", "url": "https://monarchinitiative.org/disease/MONDO:0012670", "resource": "MONDO", "name": "LRTOMT autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012670", "url": "https://monarchinitiative.org/disease/MONDO:0012670", "resource": "MONDO", "name": "autosomal recessive deafness 63", "description": "" }, { "id": "MONDO:0012670", "url": "https://monarchinitiative.org/disease/MONDO:0012670", "resource": "MONDO", "name": "DFNB63", "description": "" }, { "id": "MONDO:0012670", "url": "https://monarchinitiative.org/disease/MONDO:0012670", "resource": "MONDO", "name": "deafness, autosomal recessive type 63", "description": "" }, { "id": "MONDO:0012670", "url": "https://monarchinitiative.org/disease/MONDO:0012670", "resource": "MONDO", "name": "autosomal recessive nonsyndromic deafness type 63", "description": "" }, { "id": "MONDO:0012670", "url": "https://monarchinitiative.org/disease/MONDO:0012670", "resource": "MONDO", "name": "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT", "description": "" }, { "id": "DOID:0110515", "url": "http://disease-ontology.org/term/DOID:0110515", "resource": "Disease Ontology", "name": "DFNB63", "description": "" }, { "id": "DOID:0110515", "url": "http://disease-ontology.org/term/DOID:0110515", "resource": "Disease Ontology", "name": "autosomal recessive deafness 63", "description": "" } ], "recommended_name": { "id": "DOID:0110515", "url": "http://disease-ontology.org/term/DOID:0110515", "resource": "Disease Ontology", "name": "autosomal recessive nonsyndromic deafness 63", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0110515#disease-associations", "id": "0110515", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 28846.0, "chemical_mass": 28846.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9", "name": "Tomt", "locus": { "end_pos": 101898370, "strand": "-", "start_pos": 101906359, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000078630", "id": "ENSMUSG00000078630", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A1Y9I9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "2.1.1.6" }, { "url": "https://www.uniprot.org/uniprot/A1Y9I9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Catechol O-methyltransferase 2" }, { "url": "https://www.uniprot.org/uniprot/A1Y9I9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Protein LRTOMT2" }, { "url": "https://www.uniprot.org/uniprot/A1Y9I9#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Transmembrane O-methyltransferase homolog" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1Y9I9", "type": "synonym", "resource": "RefSeq", "name": "catechol O-methyltransferase 2" }, { "url": "https://www.uniprot.org/uniprot/A1Y9I9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "mTOMT" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1Y9I9", "type": "synonym", "resource": "RefSeq", "name": "transmembrane O-methyltransferase homolog" } ] }