{ "uniprot_canonical_ac": "A1A4V9-1", "ptm_annotation": [], "sequence": { "header": "sp|A1A4V9-1|CC189_HUMAN Isoform 1 of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=1 CANONICAL=A1A4V9-1", "length": 331, "sequence": "MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRASVRTQWTTAAAAKADEDPGANLFPPPLPRPRICMWKYLDVHSMHQLEKTTNAEMREVLAELLELGCPEQSLRDAITLDLFCHALIFCRQQGFSLEQTSAACALLQDLHKACIATPLGNVEECYRYFTSVLFCHGVRRPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTPQVRLDLSLTYMGLQPPKLWPESETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIHVLRAYIKTQVNKELEQLQGLVEERLKASEERLSSKLTALERPFQLPPGKGKSKTK" }, "uniprot_id": "CC189_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4V9", "id": "A1A4V9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12477932", "type": [ "PubMed" ], "id": "12477932" } ], "title": "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014979.2", "id": "NP_001014979.2", "database": "RefSeq" } ], "authors": "Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA", "date": "2002" } ], "uniprot_ac": "A1A4V9", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1A4V9#A1A4V9-1", "isoform_ac": "A1A4V9-1", "locus": { "end_pos": 30757479, "strand": "+", "start_pos": 30761748, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000543610", "id": "ENST00000543610", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000437532", "id": "ENSP00000437532", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A4V9-1|CC189_HUMAN Isoform 1 of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=1 CANONICAL=A1A4V9-1", "length": 331, "sequence": "MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRASVRTQWTTAAAAKADEDPGANLFPPPLPRPRICMWKYLDVHSMHQLEKTTNAEMREVLAELLELGCPEQSLRDAITLDLFCHALIFCRQQGFSLEQTSAACALLQDLHKACIATPLGNVEECYRYFTSVLFCHGVRRPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTPQVRLDLSLTYMGLQPPKLWPESETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIHVLRAYIKTQVNKELEQLQGLVEERLKASEERLSSKLTALERPFQLPPGKGKSKTK" } }, { "url": "https://www.uniprot.org/uniprot/A1A4V9#A1A4V9-2", "isoform_ac": "A1A4V9-2", "locus": {}, "sequence": { "header": "sp|A1A4V9-2|CC189_HUMAN Isoform 2 of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=1 CANONICAL=A1A4V9-1", "length": 294, "sequence": "MASYSGFSGLLEIRYGPGHRSCLPQFAFFPQPPLPRPRICMWKYLDVHSMHQLEKTTNAEMREVLAELLELGCPEQSLRDAITLDLFCHALIFCRQQGFSLEQTSAACALLQDLHKACIATPLGNVEECYRYFTSVLFCHGVRRPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTPQVRLDLSLTYMGLQPPKLWPESETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIHVLRAYIKTQVNKELEQLQGLVEERLKASEERLSSKLTALERPFQLPPGKGKSKTK" } }, { "url": "https://www.uniprot.org/uniprot/A1A4V9#A1A4V9-3", "isoform_ac": "A1A4V9-3", "locus": {}, "sequence": { "header": "sp|A1A4V9-3|CC189_HUMAN Isoform 3 of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=1 CANONICAL=A1A4V9-1", "length": 103, "sequence": "MGLQPPKLWPESETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIHVLRAYIKTQVNKELEQLQGLVEERLKASEERLSSKLTALERPFQLPPGKGKSKTK" } }, { "url": "https://www.uniprot.org/uniprot/A1A4V9#A1A4V9-4", "isoform_ac": "A1A4V9-4", "locus": { "end_pos": 30760222, "strand": "+", "start_pos": 30761748, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000545825", "id": "ENST00000545825", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000441164", "id": "ENSP00000441164", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A4V9-4|CC189_HUMAN Isoform 4 of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=1 CANONICAL=A1A4V9-1", "length": 177, "sequence": "MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRASVRTQWTTAAAAKADEDPGANLFPPPLPRPRICMWKYLDVHSMHQLEKTTNAEMREVLAELLELGCPEQSLRDAITLDLFCHALIFCRQQGFSLEQTSAACALLQDLHKACIGERGQLPGLSPREKRNRAWHK" } }, { "url": "https://www.uniprot.org/uniprot/A1A4V9#F5H7A8-1", "isoform_ac": "F5H7A8-1", "locus": { "end_pos": 30761327, "strand": "+", "start_pos": 30761748, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000545809", "id": "ENST00000545809", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000442648", "id": "ENSP00000442648", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F5H7A8-1|CC189_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=1 CANONICAL=A1A4V9-1", "length": 71, "sequence": "MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRASVRTQWTTAAAAKADEDPGANLFPSLR" } }, { "url": "https://www.uniprot.org/uniprot/A1A4V9#H0YGC5-1", "isoform_ac": "H0YGC5-1", "locus": { "end_pos": 30757478, "strand": "+", "start_pos": 30759724, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000535476", "id": "ENST00000535476", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000442644", "id": "ENSP00000442644", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YGC5-1|CC189_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=2 CANONICAL=A1A4V9-1", "length": 145, "sequence": "XTPLGNVEECYRYFTSVLFCHGVRRPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTPQVRLDLSLTYMGLQPPKLWPESETGHIHVLRAYIKTQVNKELEQLQGLVEERLKASEERLSSKLTALERPFQLPPGKGKSKTK" } }, { "url": "https://www.uniprot.org/uniprot/A1A4V9#H3BNW1-1", "isoform_ac": "H3BNW1-1", "locus": { "end_pos": 30759228, "strand": "+", "start_pos": 30760419, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000544613", "id": "ENST00000544613", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000455034", "id": "ENSP00000455034", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BNW1-1|CC189_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=1 CANONICAL=A1A4V9-1", "length": 91, "sequence": "XAEPEGRHHPGPLLPRAHFLPPAGLLTGADVSGLCPAPGSSQGLYCGLLSASTSSKRNSCWPWKTTWSTLTSATSSSINTSSHPRCGWICL" } }, { "url": "https://www.uniprot.org/uniprot/A1A4V9#H3BTQ9-1", "isoform_ac": "H3BTQ9-1", "locus": { "end_pos": 30757479, "strand": "+", "start_pos": 30761748, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000541260", "id": "ENST00000541260", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457287", "id": "ENSP00000457287", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BTQ9-1|CC189_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 189 OS=Homo sapiens OX=9606 GN=CCDC189 PE=2 SV=1 CANONICAL=A1A4V9-1", "length": 396, "sequence": "MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRASVRTQWTTAAAAKADEDPGANLFPPPLPRPRICMWKYLDVHSMHQLEKTTNAEMREVLAELLELGCPEQSLRDAITLDLFCHALIFCRQQGFSLEQTSAACALLQDLHKACIATPLGNVEECYRYFTSVLFCHGVRVSSPGTFWKLYPSPDKVSPSLSHIHHPYLLVKTPVGSPCSCCWAFGGKARAPEGSQGSNSESPPQRPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTPQVRLDLSLTYMGLQPPKLWPESETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIHVLRAYIKTQVNKELEQLQGLVEERLKASEERLSSKLTALERPFQLPPGKGKSKTK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:90835", "resource": "KEGG Pathway", "id": "hsa:90835", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "B0BMZ6-1", "protein_name": "LOC691909 protein", "sequence": { "length": 332, "sequence": "MITPRSSQSLEMKVQTELEHSPKLQEEPDRSPSLVDSSVIRIGTDEQNESPAEATSSPVEVAEDPGANLFPPPLPQPRICMWKYLDIHSMHRLEKAATVEEMREVLAELLELGGPEQSLRDAIILDLFSHALIFCRQQGFSLEQTSAACALLQDLHKACVATPLGNVEECYRYFTSVLFCHGVRRPPFSIDLFKEEQLLALADYVVNTYFRHFKLYKYVFTPQVRLDLSLSYMGLQSLHLWPEEKEDEEATVEQAATPQEEEPEAVTEAEQQPSEVCILQTYIKCQLNKELRQLQQLVEERLKESEERLSNRLAALERPYQTPPSKGKSKAK" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/79950", "id": "79950", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Ccdc189", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q6NZQ0-1", "protein_name": "Coiled-coil domain-containing protein 189", "sequence": { "length": 333, "sequence": "MITPSSSQSLGMKVQMESEQSPKLQEELDRSPSSVDGSAIRNGTDMQTESPAEATSSPVEVAEDPGANLFPPPLPQPRICMWKYLDIHSMHRLEKAATVEKMREVLAELLELGFPEQSLRDAIILDLFSHALIFCRQQGFSPEQTSAACAMLQDLHKACVATPLGNVEECYRYFTSVLFCHGIRRPPFSIDLFKEEQLLALADYVVNTYFRHFKLYKYVFTPQVRLDLSLTYTGLQPLTLWPEEKENEEMMVVEQVATPQEEEPETVTEPEQQPSEVCILQTYIKSQLSKELRQLQQLVEERLKESEERLSSKLAALEQPFQTPPSKGKTKTK" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/79950", "id": "79950", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Ccdc189", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 271, "alt_nt": "A", "chr_id": "16", "ref_nt": "T", "chr_pos": "30770338", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4V9", "id": "A1A4V9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 271, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "start_pos": 7, "alt_nt": "A", "chr_id": "16", "ref_nt": "C", "chr_pos": "30773050", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4V9", "id": "A1A4V9", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "I", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 7, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014979.2", "ac": "NP_001014979.2", "name": "coiled-coil domain-containing protein 189 isoform 1", "summary": "" }, "go_annotation": {}, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A4V9", "type": "synonym", "resource": "RefSeq", "name": "C16orf93" }, { "url": "https://www.uniprot.org/uniprot/A1A4V9", "type": "synonym", "resource": "UniProtKB", "name": "C16orf93" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A4V9", "type": "synonym", "resource": "RefSeq", "name": "CCDC189" }, { "url": "https://www.uniprot.org/uniprot/A1A4V9", "type": "recommended", "resource": "UniProtKB", "name": "CCDC189" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196118", "id": "ENSG00000196118", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4V9", "id": "A1A4V9", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC189", "id": "CCDC189", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/90835", "id": "90835", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=28078", "id": "28078", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A1A4V9*", "id": "A1A4V9", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR032727", "id": "IPR032727", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:90835", "id": "hsa:90835", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/618318", "id": "618318", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A1A4V9", "id": "NX_A1A4V9", "database": "neXtProt" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR28457", "id": "PTHR28457", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF14769", "id": "PF14769", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A1A4V9", "id": "A1A4V9", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A1A4V9", "id": "PR_A1A4V9", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014979.2", "id": "NP_001014979.2", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A1A4V9", "id": "A1A4V9", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": 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