{ "uniprot_canonical_ac": "A5D8W1-1", "ptm_annotation": [], "sequence": { "header": "sp|A5D8W1-1|CFA69_HUMAN Isoform 1 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 941, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" }, "uniprot_id": "CFA69_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18288132", "type": [ "PubMed" ], "id": "18288132" } ], "title": "DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status.", "journal": "Leukemia", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ], "authors": "Pike BL, Greiner TC, Wang X, Weisenburger DD, Hsu YH, Renaud G, Wolfsberg TG, Kim M, Weisenberger DJ, Siegmund KD, Ye W, Groshen S, Mehrian-Shai R, Delabie J, Chan WC, Laird PW, Hacia JG", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29606301", "type": [ "PubMed" ], "id": "29606301" } ], "title": "Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ], "authors": "Martinez G., Zhao H., Hosseini S.H., Arnoult C., Ray P.F., Coutton C., Lores P., Toure A., Satre V., Dulioust E., Amiri-Yekta A., Daneshipour A., Gourabi H., Karaouzene T., Thierry-Mieg N., Dong F.N., Bonhivers M., Brouillet S., Saut A., Stouvenel L., Tek J.", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30415212", "type": [ "PubMed" ], "id": "30415212" } ], "title": "Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.", "journal": "Journal of medical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ], "authors": "He X, Li W, Wu H, Lv M, Liu W, Liu C, Zhu F, Li C, Fang Y, Yang C, Cheng H, Zhang J, Tan J, Chen T, Tang D, Song B, Wang X, Zha X, Wang H, Wei Z, Yang S, Saiyin H, Zhou P, Jin L, Wang J, Zhang Z, Zhang F, Cao Y", "date": "2019" } ], "uniprot_ac": "A5D8W1", "site_annotation": [ { "end_pos": 21, "annotation": "n_glycosylation_sequon", "start_pos": 19 }, { "end_pos": 232, "annotation": "n_glycosylation_sequon", "start_pos": 230 }, { "end_pos": 835, "annotation": "n_glycosylation_sequon", "start_pos": 833 }, { "end_pos": 885, "annotation": "n_glycosylation_sequon", "start_pos": 883 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-1", "isoform_ac": "A5D8W1-1", "locus": { "end_pos": 90245425, "strand": "-", "start_pos": 90310235, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389297", "id": "ENST00000389297", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000373948", "id": "ENSP00000373948", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8W1-1|CFA69_HUMAN Isoform 1 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 941, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-2", "isoform_ac": "A5D8W1-2", "locus": {}, "sequence": { "header": "sp|A5D8W1-2|CFA69_HUMAN Isoform 2 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 895, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-3", "isoform_ac": "A5D8W1-3", "locus": { "end_pos": 90245425, "strand": "-", "start_pos": 90273991, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000451029", "id": "ENST00000451029", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000411234", "id": "ENSP00000411234", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8W1-3|CFA69_HUMAN Isoform 3 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 229, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSGL" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-4", "isoform_ac": "A5D8W1-4", "locus": {}, "sequence": { "header": "sp|A5D8W1-4|CFA69_HUMAN Isoform 4 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 227, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSGL" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-5", "isoform_ac": "A5D8W1-5", "locus": { "end_pos": 90245425, "strand": "-", "start_pos": 90310235, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000497910", "id": "ENST00000497910", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419549", "id": "ENSP00000419549", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8W1-5|CFA69_HUMAN Isoform 5 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 923, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#F8WBX7-1", "isoform_ac": "F8WBX7-1", "locus": { "end_pos": 90245425, "strand": "-", "start_pos": 90268286, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000427396", "id": "ENST00000427396", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000411143", "id": "ENSP00000411143", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WBX7-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 119, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCG" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7BZV2-1", "isoform_ac": "H7BZV2-1", "locus": { "end_pos": 90279773, "strand": "-", "start_pos": 90310235, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000449577", "id": "ENST00000449577", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391571", "id": "ENSP00000391571", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BZV2-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 478, "sequence": "ELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7C002-1", "isoform_ac": "H7C002-1", "locus": { "end_pos": 90258098, "strand": "-", "start_pos": 90300004, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000457170", "id": "ENST00000457170", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000392365", "id": "ENSP00000392365", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C002-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 515, "sequence": "DGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMILLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLAKDQTAASLLIKLW" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7C076-1", "isoform_ac": "H7C076-1", "locus": { "end_pos": 90271589, "strand": "-", "start_pos": 90271960, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000418199", "id": "ENST00000418199", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000393339", "id": "ENSP00000393339", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C076-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 89, "sequence": "XMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLL" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7C3Z7-1", "isoform_ac": "H7C3Z7-1", "locus": { "end_pos": 90307077, "strand": "-", "start_pos": 90310237, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000445156", "id": "ENST00000445156", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000414772", "id": "ENSP00000414772", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C3Z7-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 93, "sequence": "XEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7C468-1", "isoform_ac": "H7C468-1", "locus": { "end_pos": 90304036, "strand": "-", "start_pos": 90310237, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000412839", "id": "ENST00000412839", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000415818", "id": "ENSP00000415818", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C468-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 170, "sequence": "XPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79846", "resource": "KEGG Pathway", "id": "hsa:79846", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "annotation": "A CpG island proximal to FLJ21062 is frequently methylated in diffuse large B-cell lymphoma (DLBCL).", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "annotation": "CFAP69 is necessary for flagellum assembly/stability and that in both humans and mice", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#function", "annotation": "Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1#function", "id": "A5D8W1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "annotation": "Homozygous loss-of-function mutations of CFAP69 are associated with abnormalities of the sperm flagella and severe asthenoteratospermia.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4A7D1-1", "protein_name": "Cilia and flagella-associated protein 69", "sequence": { "length": 941, "sequence": "MSTAEASAVAADAAEVGGRTKTGSPRTIPVFGVAIPDGEMQDIFKPMDLNRIIKLLEEDDKDVSEEKQLKYIKKLTHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASEIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSKLRIQICKCIVDFYHAEPLKKHISGYQQVSSSFKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASRICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLTLKEVFKNLVMRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLTTVQLLIDGKVILALLTYVKKPERLKIIEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNARILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYSSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDKNGKIVDTKRPLFTSFQEEQKIVPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWTEVSEEIKLEKLRLVTVDEKSLHSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQRDQAHKSWENFLARTSNAKTLKKAKRLQEKAIESSRYSKRPQNAIFHQTVIKGLNTTVTSGQVVTVESTPTRLLGGPLADTDIALKKLPIRGGALQKVKVKPLDGLKKTVPI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A5D8W1/", "id": "A5D8W1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/11718", "id": "11718", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Cfap69", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BH53-1", "protein_name": "Cilia- and flagella-associated protein 69", "sequence": { "length": 942, "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLATVQLLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDRNGKIVDTKRPLFTSFQEEQKTMPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A5D8W1/", "id": "A5D8W1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/11718", "id": "11718", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Cfap69", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "G", "start_pos": 119, "alt_nt": "T", "chr_id": "7", "ref_nt": "G", "chr_pos": "89891369", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "C", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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