{ "uniprot_canonical_ac": "A2RUT3-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RUT3-1|TMM89_HUMAN Isoform 1 of Transmembrane protein 89 OS=Homo sapiens OX=9606 GN=TMEM89 PE=2 SV=1 CANONICAL=A2RUT3-1", "length": 159, "sequence": "MLHVLASLPLLLLLVTSASTHAWSRPLWYQVGLDLQPWGCQPKSVEGCRGGLSCPGYWLGPGASRIYPVAAVMITTTMLMICRKILQGRRRSQATKGEHPQVTTEPCGPWKRRAPISDHTLLRGVLHMLDALLVHIEGHLRHLATQRQIQIKGTSTQSG" }, "uniprot_id": "TMM89_HUMAN", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUT3", "id": "A2RUT3", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21630459", "type": "PubMed", "id": "21630459" } ], "title": "Proteomic characterization of the human sperm nucleus.", "journal": "Proteomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008270.1", "id": "NP_001008270.1", "database": "RefSeq" } ], "authors": "de Mateo S, Castillo J, Estanyol JM, Ballesca JL, Oliva R", "date": "2011" } ], "uniprot_ac": "A2RUT3", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RUT3", "type": "synonym", "resource": "RefSeq", "name": "TMEM89" }, { "url": "https://www.uniprot.org/uniprot/A2RUT3", "type": "recommended", "resource": "UniProtKB", "name": "TMEM89" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RUT3#A2RUT3-1", "isoform_ac": "A2RUT3-1", "locus": { "end_pos": 48620845, "strand": "+", "start_pos": 48621756, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000330862", "id": "ENST00000330862", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000329557", "id": "ENSP00000329557", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RUT3-1|TMM89_HUMAN Isoform 1 of Transmembrane protein 89 OS=Homo sapiens OX=9606 GN=TMEM89 PE=2 SV=1 CANONICAL=A2RUT3-1", "length": 159, "sequence": "MLHVLASLPLLLLLVTSASTHAWSRPLWYQVGLDLQPWGCQPKSVEGCRGGLSCPGYWLGPGASRIYPVAAVMITTTMLMICRKILQGRRRSQATKGEHPQVTTEPCGPWKRRAPISDHTLLRGVLHMLDALLVHIEGHLRHLATQRQIQIKGTSTQSG" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:440955", "resource": "KEGG Pathway", "id": "hsa:440955", "name": "" } ], "reaction_participants": [], "function": [], "orthologs": [ { "uniprot_canonical_ac": "D3Z9I5-1", "protein_name": "RCG25530, isoform CRA_c", "sequence": { "length": 758, "sequence": "MGLPDGSDHGTQQTQALLSATQEMELERRDYHVERPLLNQEQLEDLGHWGPVSKTHPWRTWFRCSRARAKSLLIQHVPVLGWLPRYPVREWLLGDLLSGLSVAIMQLPQGLAYALLAGLPPMFGLYSSFYPVFVYFLFGTSRHISVGTFAVMSVMVGGVTESLTADEAFVQSLNTTVDGARVQVAYTLSFLVGLFQVGLGLVHFGFVVTYLSEPLVRSYTTAASVQVLVSQLKYVFGIKLNSHSGPLSVIYTVLEVCAQLPKTVPGTVVTAIVAGVVLVLVKLLNEKLRRRLPLPIPGELLTLIGATAISYGVKLNDRFKVDVVGNITTGLIPPVAPKTELFATLVGNAFAIAVVGFAIAISLGKIFALRHGYRVDSNQELVALGLSNLIGGFFQCFPVSCSMSRSLVQESTGGNTQIAGAVSSLFILLIIVKLGELFRDLPKAVLAAVIIVNLKGMMKQFSDICSLWKANRVDLLIWLVTFVATILLNLDIGLAVSIVFSLLLVVIRMQLPHYSVLGQVPDTDIYRDVAEYSGAKEVPGVKVFRSSATMYFANAELYSDSLKKKCGVDVDRLITQKKKRIKKQEMKIKRMNKAKKSQKQAASSKISSVSVNVNTNFEDIKSNDVEGSEAKVHQGEELEDVVASNQEDAKPPIMTSLKALGLPQPDFHSLILDLSTVSFVDTVCIKSLKNIFRDFREIEVEVYIAACYSPVVTQLEAGHFFDESITKQHVFASVHDAVTFALHHRKSGPKSPVLATKL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/52857", "id": "52857", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Slc26a6", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q9DA04-1", "protein_name": "Transmembrane protein 89", "sequence": { "length": 169, "sequence": "MLYTLLLVPSLFLLVMPVPSQGWSRPLWYQVGLDLQPWGCQPNSPDIWGCQPNSLDSCKNSLGCPGYWLGLGGNRIYPVAGVTITTTMLLVVSRVIVHRWRAKVAKGQLPAVTSSSGKHWKEQPTVSDRTLVLRVLHMLDAILLHIEGHLQGLASQQQIQIKGSPPQSG" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RUT3/", "id": "A2RUT3", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/52857", "id": "52857", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Tmem89", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "L", "start_pos": 35, "alt_nt": "G", "chr_id": "3", "subjects_positive": "1", "chr_pos": "48659086", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUT3", "id": "A2RUT3", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 35, "minor_allelic_frequency": "", "ref_nt": "A" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUT3", "id": "A2RUT3", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "Q", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 86, "minor_allelic_frequency": "", "ref_nt": "A" } ], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008270.1", "ac": "NP_001008270.1", "name": "transmembrane protein 89 precursor", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "21630459", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUT3", "id": "A2RUT3", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUT3", "id": "A2RUT3", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 2, "name": "Cellular Component" } ] }, "site_annotation": [], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183396", "id": "ENSG00000183396", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUT3", "id": "A2RUT3", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM89", "id": "TMEM89", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/440955", "id": "440955", "database": "GeneID" 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