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"DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A4D263", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D263" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A4D263", "url": "https://www.uniprot.org/uniprot/A4D263" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "gene": [ { "name": "SPMIP7", "url": "https://www.uniprot.org/uniprot/A4D263", "locus": { "chromosome": "7", "start_pos": 50159256, "end_pos": 50095883, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000164500", "url": "https://www.ensembl.org/id/ENSG00000164500" } ] } } ], "crossref": [ { "id": "ENSG00000164500", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164500", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "SPMIP7", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPMIP7", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "22564", "url": 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Classification" ] }, { "id": "PTHR34759:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR34759:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF15073", "url": "http://pfam.xfam.org/family/PF15073", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A4D263", "url": "https://pharos.nih.gov/targets/A4D263", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A4D263", "url": "http://purl.obolibrary.org/obo/PR_A4D263", "database": "PRO", "categories": [ "Protein" ] }, { "id": "A4D263", "url": "https://www.uniprot.org/uniprot/A4D263", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A4D263-1", "url": "https://www.uniprot.org/uniprot/A4D263-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDVEIQDTPGKISISKRSILSGTVENIDYPHYCDLLRKMNMPFVKGLENRHNYGRFEKKCNPAFLKFHPYPPSVLPDYHLHDPYPPPYGPHYPLFPLRDDVTLGDSCSGFMSPGGDADLNPGIGRTIPTLVDFSDVKPQHRVPRPDTGFQTTIKRQKILSEELQQNRRWNSREVPDISIRARLGGWTSPLKVTPLQPHHEGRSLSHIFTFDEEATCTDEGEPLVQTNKKCNAKDSFYKSSTQKAYEDVPWDKMLPPKLVPEETTLEKTADPISQCFTLKRYKGVPAITQMVGELWDRFQTRSFLAPVKPINFVSSSSRSKYIPLYTGHVQSTNADDVDNPLGDIASLAKQRYSKPLYTNTSRAANIPGYTGKVHFTATHPANSNIPSTTPSPDSELHRVFQKEMAVDLFRHQAPLSRLVTTVRPYNPFNKKDKETIDY", "length": 438, "header": "sp|A4D263-1|SMIP7_HUMAN Isoform 1 of Protein SPMIP7 OS=Homo sapiens OX=9606 GN=SPMIP7 PE=1 SV=2 CANONICAL=A4D263-1" }, "isoforms": [ { "isoform_ac": "A4D263-1", "url": "https://www.uniprot.org/uniprotkb/A4D263/entry#A4D263-1", "sequence": { "sequence": "MDVEIQDTPGKISISKRSILSGTVENIDYPHYCDLLRKMNMPFVKGLENRHNYGRFEKKCNPAFLKFHPYPPSVLPDYHLHDPYPPPYGPHYPLFPLRDDVTLGDSCSGFMSPGGDADLNPGIGRTIPTLVDFSDVKPQHRVPRPDTGFQTTIKRQKILSEELQQNRRWNSREVPDISIRARLGGWTSPLKVTPLQPHHEGRSLSHIFTFDEEATCTDEGEPLVQTNKKCNAKDSFYKSSTQKAYEDVPWDKMLPPKLVPEETTLEKTADPISQCFTLKRYKGVPAITQMVGELWDRFQTRSFLAPVKPINFVSSSSRSKYIPLYTGHVQSTNADDVDNPLGDIASLAKQRYSKPLYTNTSRAANIPGYTGKVHFTATHPANSNIPSTTPSPDSELHRVFQKEMAVDLFRHQAPLSRLVTTVRPYNPFNKKDKETIDY", "length": 438, "header": "sp|A4D263-1|SMIP7_HUMAN Isoform 1 of Protein SPMIP7 OS=Homo sapiens OX=9606 GN=SPMIP7 PE=1 SV=2 CANONICAL=A4D263-1" }, "locus": { "chromosome": "7", "start_pos": 50159166, "end_pos": 50096086, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000297001.7", "url": "https://www.ensembl.org/id/ENST00000297001.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000297001.7", "url": "https://www.ensembl.org/id/ENSP00000297001.7" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 237, "end_pos": 237, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A4D263", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D263" } ], "site_lbl": "Tyr237" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Spermatogenesis-associated 48 is essential for spermatogenesis in mice.", "journal": "Andrologia", "date": "2018", "authors": "Zhang J, Yan R, Wu C, Wang H, Yang G, Zhong Y, Liu Y, Wan L, Tang A", "evidence": [ { "database": "UniProtKB", "id": "A4D263", "url": "https://www.uniprot.org/uniprot/A4D263" } ], "reference": [ { "type": "PubMed", "id": "29700843", "url": "https://glygen.org/publication/PubMed/29700843" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "A0A8V0X5T2-1", "protein_name": "Spermatogenesis associated 48", "gene_name": "C7orf72", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": 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"MRQSMDMEVKHIPGKISIPKRFIFSEGKAIEHPDYPHYHDLLQKMNMPFVKGFEDRHNCGRFEKKFNPTFLKFHPYPPSVLPDYHVHYPYPPPFGKAYPLAPLRDDVPLGDPCSGFMSPGGDADLKPGVGRAIPNLVSFHDVKPQNRVPRPDKGFHTTIKRQTILTEELKQDRRWNSRKVSDIFIRAKLGGWTSPRKVIPVPVHEHEVGTLSRLYTFEEEATSTDDSEPLVQLDKKTNTKDSFYKSSTQKAYENVPWDKILSPKLDPEETTLEKAADHISQCFTLKRYERLPAITQMVGGLWDRFQTRLFSAPVKPINFVSPSTRSKYIPLYTGHVQSTNADDVDNPYGDIKSVASPRHSKLLYTDTSRSANIPGYTGKVHFTATHPTNSNIPPTMPLSDSEMNRLLLQEMRVDRFRHQGPLSQMVTTVKPYNPFNRKEKEALEY", "length": 445 }, "evidence": [ { "id": "A4D263", "url": "https://omabrowser.org/oma/group/A4D263/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "F1SF27-1", "protein_name": "Spermatosis associated 48", "gene_name": "SPMIP7", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MDMDSQHTPGKISISEGSFLSRARAVENVDYPHHRDLLRKLNMPFVKGVEDRHDYGRIEKKCNPAFLKFHPYPPSALPDYHLHYPYPPPYGPDYPLFPLRDDVPLGDSCSGFLSPGGDADLKPGVGRAIPSLVDFSDVKPQHQVPRPDTGFQTTLKRKNLLFEELKQDRRWNSRAVPDVSIRARLGGWTSPVKVTPLRTHHEEYSTHHPYTFDEEATSTDDGDTLVQPNKKYSAKDSFYKSSTQKAYEAVPWDKMLPPKVDPEETTVERAADPISQCFTLKRYERLPAITQMVGGLWDRFQTRSFLAPVKPVNFVSPSSRSKYLPLYTGCVQSTNAEDIDNPHGDTASLAGARSSEVLSANTSRSANIPGYTGKVHFTATHPANSNIPSTTPSPDSEVHRVLGKEMAVDVFRHQGPLSQMVTTVKPHNPFEKKEKETVGS", "length": 440 }, "evidence": [ { "id": "A4D263", "url": "https://omabrowser.org/oma/group/A4D263/", "database": "OMA" } ], "glygen_name": "Pig", "common_name": "Pig" }, { "uniprot_canonical_ac": "Q5NC83-1", "protein_name": "Protein SPMIP7", "gene_name": "Spmip7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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