{ "uniprot_canonical_ac": "A2RUB6-1", "sequence": { "header": "sp|A2RUB6-1|CCD66_HUMAN Isoform 1 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 948, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRETVLLEHPFSAVKQELQRKWIEELNKQIEDDRQRKIEEKIIYSKGEEHDRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTYMNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENNRCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYPKQLQKQREEKKVRRQMELLHLVEKNNPGHLSQNRGISPEIFHSSHQETESKLRWHLVKKEEEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERENLISGSNQTELSSGISESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPNMVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF" }, "uniprot_id": "CCD66_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29855336", "type": "PUBMED", "id": "29855336" } ], "title": "The role of HGF-MET pathway and CCDC66 cirRNA expression in EGFR resistance and epithelial-to-mesenchymal transition of lung adenocarcinoma cells.", "journal": "Journal of hematology & oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Joseph NA, Chiou SH, Lung Z, Yang CL, Lin TY, Chang HW, Sun HS, Gupta SK, Yen L, Wang SD, Chow KC", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21680557", "type": "PUBMED", "id": "21680557" } ], "title": "Ccdc66 null mutation causes retinal degeneration and dysfunction.", "journal": "Hum. Mol. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Gal A., Epplen J.T., Schreiber S., Akkad D.A., Dekomien G., Gerding W.M., Petrasch-Parwez E., Ruelicke T., Ibrahim S., Dermietzel R., Atorf J., Kremers J., Schulte-Middelmann T., de Castro Marques A.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28369829", "type": "PUBMED", "id": "28369829" } ], "title": "Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.", "journal": "Clinical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Khan AO, Budde BS, Nurnberg P, Kawalia A, Lenzner S, Bolz HJ", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28249903", "type": "PUBMED", "id": "28249903" } ], "title": "Noncoding Effects of Circular RNA CCDC66 Promote Colon Cancer Growth and Metastasis.", "journal": "Cancer research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Hsiao KY, Lin YC, Gupta SK, Chang N, Yen L, Sun HS, Tsai SJ", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28235840", "type": "PUBMED", "id": "28235840" } ], "title": "The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.", "journal": "J. Cell Sci.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Yates J.R. III, Firat-Karalar E.N., Rauniyar N., Conkar D., Culfa E., Odabasi E.", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19777273", "type": "PUBMED", "id": "19777273" } ], "title": "Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene.", "journal": "Neurogenetics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Epplen J.T., Akkad D.A., Dekomien G., Gerding W.M., Petrasch-Parwez E., Boeve M.H., Vollrath C.", "date": "2010" } ], "uniprot_ac": "A2RUB6", "site_annotation": [ { "end_pos": 219, "annotation": "n_glycosylation_sequon", "start_pos": 217 }, { "end_pos": 170, "annotation": "n_glycosylation_sequon", "start_pos": 168 }, { "end_pos": 581, "annotation": "n_glycosylation_sequon", "start_pos": 579 }, { "end_pos": 641, "annotation": "n_glycosylation_sequon", "start_pos": 639 }, { "end_pos": 821, "annotation": "n_glycosylation_sequon", "start_pos": 819 }, { "end_pos": 806, "annotation": "n_glycosylation_sequon", "start_pos": 804 }, { "end_pos": 584, "annotation": "n_glycosylation_sequon", "start_pos": 582 }, { "end_pos": 834, "annotation": "n_glycosylation_sequon", "start_pos": 832 }, { "end_pos": 604, "annotation": "n_glycosylation_sequon", "start_pos": 602 }, { "end_pos": 128, "annotation": "n_glycosylation_sequon", "start_pos": 126 } ], "mutation": [ { "sequence_org": "E", "start_pos": 592, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "" } }, { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } }, { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUB6", "id": "A2RUB6", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "Q", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 592, "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. 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(2.0%)." }, { "sequence_org": "L", "start_pos": 929, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUB6", "id": "A2RUB6", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 929, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "C", "start_pos": 677, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUB6", "id": "A2RUB6", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "F", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 677, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6#F8WCY0-1", "isoform_ac": "F8WCY0-1", "locus": { "end_pos": 56557243, "start_pos": 56566740, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000341455", "id": "ENST00000341455", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000343840", "id": "ENSP00000343840", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WCY0-1|CCD66_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 230, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#C9JYB8-1", "isoform_ac": "C9JYB8-1", "locus": { "end_pos": 56557243, "start_pos": 56617299, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000422222", "id": "ENST00000422222", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000401451", "id": "ENSP00000401451", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JYB8-1|CCD66_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 633, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRGEEHDRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTYMNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENNRC" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#F8WDJ0-1", "isoform_ac": "F8WDJ0-1", "locus": { "end_pos": 56563684, "start_pos": 56572363, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000471681", "id": "ENST00000471681", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000420192", "id": "ENSP00000420192", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WDJ0-1|CCD66_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 287, "sequence": "MGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRLFKHSITVS" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#A2RUB6-4", "isoform_ac": "A2RUB6-4", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2RUB6-4|CCD66_HUMAN Isoform 4 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 196, "sequence": "MGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#A2RUB6-1", "isoform_ac": "A2RUB6-1", "locus": { "end_pos": 56557243, "start_pos": 56621615, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000394672", "id": "ENST00000394672", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000378167", "id": "ENSP00000378167", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RUB6-1|CCD66_HUMAN Isoform 1 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 948, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRETVLLEHPFSAVKQELQRKWIEELNKQIEDDRQRKIEEKIIYSKGEEHDRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTYMNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENNRCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYPKQLQKQREEKKVRRQMELLHLVEKNNPGHLSQNRGISPEIFHSSHQETESKLRWHLVKKEEEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERENLISGSNQTELSSGISESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPNMVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#A2RUB6-2", "isoform_ac": "A2RUB6-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2RUB6-2|CCD66_HUMAN Isoform 2 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 287, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELVLQTVQAWYQHLLGFW" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#A2RUB6-3", "isoform_ac": "A2RUB6-3", "locus": { "end_pos": 56563684, "start_pos": 56621615, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000326595", "id": "ENST00000326595", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000326050", "id": "ENSP00000326050", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RUB6-3|CCD66_HUMAN Isoform 3 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 914, "sequence": "MGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRETVLLEHPFSAVKQELQRKWIEELNKQIEDDRQRKIEEKIIYSKGEEHDRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTYMNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENNRCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYPKQLQKQREEKKVRRQMELLHLVEKNNPGHLSQNRGISPEIFHSSHQETESKLRWHLVKKEEEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERENLISGSNQTELSSGISESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPNMVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#F2Z2K6-1", "isoform_ac": "F2Z2K6-1", "locus": { "end_pos": 56557243, "start_pos": 56560939, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000434467", "id": "ENST00000434467", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000394704", "id": "ENSP00000394704", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F2Z2K6-1|CCD66_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 60, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKCLKVFACLWIEPSLDDVPLYPSTLSP" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#F8WB87-1", "isoform_ac": "F8WB87-1", "locus": { "end_pos": 56557243, "start_pos": 56561268, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000422788", "id": "ENST00000422788", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410510", "id": "ENSP00000410510", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WB87-1|CCD66_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 38, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKADLL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:285331", "resource": "KEGG Pathway", "id": "hsa:285331", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "In-depth characterization revealed that circCCDC66 exerts its function via regulation of a subset of oncogenes, and knockdown of circCCDC66 inhibited tumor growth and cancer invasion in xenograft and orthotopic mouse models, respectively. Taken together, these findings highlight a novel oncogenic function of circRNA in cancer progression and metastasis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#function", "annotation": "Microtubule-binding protein required for ciliogenesis (PubMed:28235840). May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (PubMed:28235840). Plays a role in retina morphogenesis and/or homeostasis (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6#function", "id": "A2RUB6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "This study identifies CCDC66 as a targeting factor for centrosome and cilium proteins", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "HGF/c-Met regulates expression of SAE2 and cirRNA CCDC66 to increase epithelial-to-mesenchymal transition and drug resistance of lung adenocarcinoma cells. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "ac": "NP_001012524.4", "name": "coiled-coil domain-containing protein 66 isoform 2", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "microtubule binding", "id": "GO:0008017" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "protein homodimerization activity", "id": "GO:0042803" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "centrosome", "id": "GO:0005813" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "microtubule", "id": "GO:0005874" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "cilium", "id": "GO:0005929" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "pmid": "19777273", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "photoreceptor inner segment", "id": "GO:0001917" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "centriolar satellite", "id": "GO:0034451" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "ciliary basal body", "id": "GO:0036064" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "photoreceptor outer segment", "id": "GO:0001750" } ], "total": 7, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "cilium assembly", "id": "GO:0060271" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "microtubule bundle formation", "id": "GO:0001578" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903564", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "regulation of protein localization to cilium", "id": "GO:1903564" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "retina homeostasis", "id": "GO:0001895" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046548", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "retinal rod cell development", "id": "GO:0046548" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050908", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "detection of light stimulus involved in visual perception", "id": "GO:0050908" } ], "total": 6, "name": "Biological Process" } ] }, "gene_names": [ { "type": "synonym", "resource": "refseq", "name": "CCDC66" }, { "type": "recommended", "resource": "uniprotkb", "name": "CCDC66" } ], "crossref": [ { "url": "http://www.orthodb.org/?query=1468611at2759", "id": "1468611at2759", "database": "OrthoDB" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR040467", "id": "IPR040467", "database": "InterPro" }, { "url": "https://pharos.nih.gov/targets/A2RUB6", "id": "A2RUB6", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2RUB6", "id": "PR_A2RUB6", "database": "PRO" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=27709", "id": 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"id": "ENSG00000180376", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180376", "id": "ENSG00000180376", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180376", "id": "ENSG00000180376", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180376", "id": "ENSG00000180376", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": 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protein 66 isoform 2" }, { "type": "recommended", "resource": "uniprotkb", "name": "Coiled-coil domain-containing protein 66" } ] }