{ "uniprot_canonical_ac": "A5D8V7-1", "ptm_annotation": [], "sequence": { "header": "sp|A5D8V7-1|CC151_HUMAN Isoform 1 of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 595, "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" }, "uniprot_id": "K7EPB4_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "pmid": "25192045", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "axoneme", "id": "GO:0005930" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "cilium", "id": "GO:0005929" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "centriole", "id": "GO:0005814" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "ciliary basal body", "id": "GO:0036064" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "pmid": "25192045", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "determination of left/right symmetry", "id": "GO:0007368" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "pmid": "25192045", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "cilium movement", "id": "GO:0003341" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036158", "pmid": "25192045", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "outer dynein arm assembly", "id": "GO:0036158" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "regulation of cilium assembly", "id": "GO:1902017" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "cilium movement", "id": "GO:0003341" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070286", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" } ], "name": "axonemal dynein complex assembly", "id": "GO:0070286" } ], "total": 6, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23455924", "type": "PubMed", "id": "23455924" } ], "title": "A Y2H-seq approach defines the human protein methyltransferase interactome.", "journal": "Nature methods", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer D, Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S, Stelzl U", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24067530", "type": "PubMed", "id": "24067530" } ], "title": "The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24088566", "type": "PubMed", "id": "24088566" } ], "title": "Chlamydomonas ODA10 is a conserved axonemal protein that plays a unique role in outer dynein arm assembly.", "journal": "Molecular biology of the cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Dean AB, Mitchell DR", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25192045", "type": "PubMed", "id": "25192045" } ], "title": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "id": "NP_001289383.1", "database": "RefSeq" } ], "authors": "Li Y., Sheridan E., Carr I.M., Loges N.T., Omran H., Letteboer S.J., Lo C.W., Mans D.A., Roepman R., Dougherty G.W., Hjeij R., Pennekamp P., Werner C., Watson C.M., Burdine R.D., Chung E.M., Marthin J.K., Mitchison H.M., Nielsen K.G., O'Callaghan C., Onoufriadis A., Rutman A., Bartscherer K., Burgoyne T., Diggle C.P., Gabriel G.C., Klena N.T., Konert F., Kurkowiak M., Lemke K.L., Menchen T., Morante N.F., Moya E., Slagle C.E., Westermann C.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25224326", "type": "PubMed", "id": "25224326" } ], "title": "Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.", "journal": "Hum. Mutat.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "id": "NP_001289383.1", "database": "RefSeq" } ], "authors": "Rodriguez S., Al-Rikabi A.C., Alharbi K.K., Alsaadi M.M., Day I.N., Erzurumluoglu A.M., Gaunt T.R., Guthrie P.A., Mubarak M., Omar H.Z.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27486780", "type": "PubMed", "id": "27486780" } ], "title": "TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ], "authors": "Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30504913", "type": "PubMed", "id": "30504913" } ], "title": "Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.", "journal": "Journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "id": "NP_001289383.1", "database": "RefSeq" } ], "authors": "Zhang W, Li D, Wei S, Guo T, Wang J, Luo H, Yang Y, Tan Z", "date": "2019" } ], "uniprot_ac": "A5D8V7", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A5D8V7", "type": "synonym", "resource": "RefSeq", "name": "CCDC151; CILD30; ODA10" }, { "url": "https://www.uniprot.org/uniprot/A5D8V7", "type": "recommended", "resource": "UniProtKB", "name": "CCDC151" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5D8V7", "type": "synonym", "resource": "RefSeq", "name": "ODAD3" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7#A5D8V7-1", "isoform_ac": "A5D8V7-1", "locus": { "end_pos": 11420838, "strand": "+", "start_pos": 11435016, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000356392", "id": "ENST00000356392", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000348757", "id": "ENSP00000348757", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8V7-1|CC151_HUMAN Isoform 1 of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 595, "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#A5D8V7-2", "isoform_ac": "A5D8V7-2", "locus": {}, "sequence": { "header": "sp|A5D8V7-2|CC151_HUMAN Isoform 2 of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 541, "sequence": "MHPPVAPCKKLRCPPTRSFTPTRGRSKEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#K7EN59-1", "isoform_ac": "K7EN59-1", "locus": { "end_pos": 11420838, "strand": "+", "start_pos": 11435016, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000591179", "id": "ENST00000591179", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000466800", "id": "ENSP00000466800", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EN59-1|K7EN59_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 535, "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDLLKALEHLDHRLREKVKQQNALRHQVVLRQRRLEELQLQHSLRLLEMAEAQNRHTEVAKDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" } }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#K7EPB4-1", "isoform_ac": "K7EPB4-1", "locus": { "end_pos": 11431187, "strand": "+", "start_pos": 11435016, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000591345", "id": "ENST00000591345", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467313", "id": "ENSP00000467313", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EPB4-1|CC151_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 115, "sequence": "MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHRGAGKPSVHSQVAELHKKIQLLESHSVARWECSGTISAHCNLRLPESLEPGRRRLW" } }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#K7EPK8-1", "isoform_ac": "K7EPK8-1", "locus": { "end_pos": 11420838, "strand": "+", "start_pos": 11426911, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000586836", "id": "ENST00000586836", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467429", "id": "ENSP00000467429", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EPK8-1|K7EPK8_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 151 OS=Homo sapiens OX=9606 GN=CCDC151 PE=1 SV=1 CANONICAL=A5D8V7-1", "length": 404, "sequence": "MAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDESLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERYISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFGKVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSGEATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVEDGRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLPEYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:115948", "resource": "KEGG Pathway", "id": "hsa:115948", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "annotation": "CCDC151 mutation is associated with primary ciliary dyskinesia and situs inversus. Erratum:[J Hum Genet. 2019 Jun 10;:. PMID: 31178588]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "annotation": "CCDC151 mutation is associated with primary ciliary dyskinesia and situs inversus. Erratum:[J Hum Genet. 2019 Jun 10;:. PMID: 31178588]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "id": "NP_001289383.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "annotation": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "annotation": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "id": "NP_001289383.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A5D8V7#function", "annotation": "Ciliary protein involved in outer dynein arm assembly and required for motile cilia function.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8V7#function", "id": "A5D8V7", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "annotation": "Observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "annotation": "Observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "id": "NP_001289383.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4ABL9-1", "protein_name": "Uncharacterized protein RGD1310048_predicted", "sequence": { "length": 595, "sequence": "MTSPLCWAAATSTVTSQEPVPAPSSKTKGSKVHRPRGKAMGRAQAWPAHHSKTAASFQLMKSSVQAQVLELQRKIQLLEGDRKAFYESSQWNMKKNQDTINHLQEETKSLHMQLKDLLQGDSKVVQAIIQEWRSEKPYLKNRTCEQALEHLEHQLREKMNQLNALRHQVILRQKRLEELRLQHSLRQLEMAEIQDSNTEAAKTMRNLENRLEKARMKAEEAEHITNVYLQLKSYLQEESLNLENRLDSMEAEVMNTKHEVQELKVVNQEAINARDIAKNQLQYLEETAIRDRKKRDHYITDCKKRAEEKKLQTERMERKTHRDHVLLQSEDTIQDHQRHKEQELRQRWSMYQMEVMFGKVKDATGVAESHAVVRRFLAQDETFTQLETLKRDNELALAKLKEEKQRLQRELENLKYSGDATLVSQRKLHEEMKKAFKKEEQRHSEVLERLDRTSRVLELVKDCLEHLANKLSHVQMDDTILAGKKLDRESEDYPSNLLVVVQEKLLKLQEHLDNQDVPEMLRHIADREFLATLEGKLPLYNTRILLPVASVKDKFFDEEESEDDDRDVVTRAAFKIRSQKLIEARSKKRNKSRRS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/16533", "id": "16533", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Ccdc151", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BSN3-1", "protein_name": "Coiled-coil domain-containing protein 151", "sequence": { "length": 593, "sequence": "MTSPLCWAAATTTVTSPEQAPAPSSKAKGSKVHRSKSMGRAQAWPARHPKSATSFHAMKSSVHAQVLELQRKIQLLEGDRKAFYESSQWNMKKNQDTINQLQEETKALHVQLKDLLQGDSKVIQAIIQEWKSEKPFLKNRTCEQALEHLEHQLREKMNQLNALRHQVILRQKRLEDLRLQHSLRQLEMAEVQDSNMEAAKTMRNLENRLEKARMKAEEAEHITNVYLQLKSYLQEESLNLESRLDSMEAEVMNTKHEVQELKVVNQEAINARDIAKNQLQYLEESAIRDRKKREHYITDCKKRAEEKKLQTERMERKTHRDHVLLQSEDTIQDHQRHREEELRQRWSMYQMEVMFGKVKDATGVAESHAVVRRFLAQDETFTQLENLKKDNELALAKLKEEKQRLQRELENLKYSGDATLVSQRRLHEEMQKTFKKEEQRHNDVHERLEHTSRILQLVKDCLEHLANKLSHVKLDDTVLAGKKLDRDSEDYAYNLLVVVQEKLLKLQDQLESQDVPELLRHIADREFLATLEGKLPLYNTRILLPVASVKDKFFDEEESEDDDRDVVTRAAFKLRSQKLIEARSKKRNRLRRS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/16533", "id": "16533", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Ccdc151", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "H", "start_pos": 155, "alt_nt": "T", "chr_id": "19", "ref_nt": "G", "chr_pos": "11537842", "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/A5D8V7", "id": "A5D8V7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "N", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 155, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 376, "alt_nt": "A", "chr_id": "19", "ref_nt": "G", "chr_pos": "11533520", "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/A5D8V7", "id": "A5D8V7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "W", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 376, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "K", "start_pos": 449, "alt_nt": "G", "chr_id": "19", "ref_nt": "T", "chr_pos": "11533227", "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/A5D8V7", "id": "A5D8V7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 449, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 454, "alt_nt": "A", "chr_id": "19", "ref_nt": "C", "chr_pos": "11533212", "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/A5D8V7", "id": "A5D8V7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 454, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 8, "alt_nt": "A", "chr_id": "19", "ref_nt": "G", "chr_pos": "11545815", "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/A5D8V7", "id": "A5D8V7", "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": 8, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Q", "start_pos": 93, "alt_nt": "A", "chr_id": "19", "ref_nt": "G", "chr_pos": "11541808", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8V7", "id": "A5D8V7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "*", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 93, "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_001289382.1", "ac": "NP_001289382.1", "name": "coiled-coil domain-containing protein 151 isoform 2", "summary": "This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]." }, "reaction_enzymes": [], "site_annotation": [ { "end_pos": 146, "annotation": "n_glycosylation_sequon", "start_pos": 144 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198003", "id": "ENSG00000198003", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8V7", "id": "A5D8V7", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC151", "id": "CCDC151", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/115948", "id": "115948", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=28303", "id": "28303", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A5D8V7*", "id": "A5D8V7", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR033192", "id": "IPR033192", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:115948", "id": "hsa:115948", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/615956", "id": "615956", "database": "MIM" }, { "url": "http://www.omim.org/entry/616037", "id": "616037", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A5D8V7", "id": "NX_A5D8V7", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/AVIQEWK/", "id": "AVIQEWK", "database": "OMA" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46518", "id": "PTHR46518", "database": "PANTHER" }, { "url": "https://pharos.nih.gov/targets/A5D8V7", "id": "A5D8V7", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A5D8V7", "id": "PR_A5D8V7", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382", "id": "NP_001289382", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382.1", "id": "NP_001289382.1", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383", "id": "NP_001289383", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289383.1", "id": "NP_001289383.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A5D8V7", "id": "A5D8V7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5D8V7-1", "id": "A5D8V7-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A5D8V7-2", "id": "A5D8V7-2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/K7EN59", "id": "K7EN59", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/K7EN59-1", "id": "K7EN59-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/K7EPB4", "id": "K7EPB4", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/K7EPB4-1", "id": "K7EPB4-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/K7EPK8", "id": "K7EPK8", "database": "UniProtKB" }, { "url": 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