{ "uniprot_canonical_ac": "Q8BH53-1", "uniprot_ac": "Q8BH53", "uniprot_id": "CFA69_MOUSE", "mass": { "chemical_mass": 106233.0, "monoisotopic_mass": 106233.0 }, "refseq": { "ac": "NP_766035", "name": "cilia- and flagella-associated protein 69", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" }, "gene_names": [ { "name": "Cfap69", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8BH53", "id": "Q8BH53" }, { "name": "4921525K03; A330021E22Rik", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035", "id": "NP_766035" }, { "name": "A330021E22Rik", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8BH53", "id": "Q8BH53" }, { "name": "Cfap69", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035", "id": "NP_766035" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 69", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8BH53" }, { "name": "cilia- and flagella-associated protein 69", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035", "id": "NP_766035" } ], "function": [ { "annotation": "A330021E22Rik is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.", "evidence": [ { "database": "RefSeq", "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" }, { "database": "PubMed", "id": "17971504", "url": "https://glygen.org/publication/PubMed/17971504" } ] }, { "annotation": "CFAP69 is necessary for flagellum assembly/stability and that in both humans and mice", "evidence": [ { "database": "RefSeq", "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" }, { "database": "PubMed", "id": "29606301", "url": "https://glygen.org/publication/PubMed/29606301" } ] }, { "annotation": "Cilium- and flagellum-associated protein (PubMed:28495971, 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 (PubMed:28495971). Required for sperm flagellum assembly and stability (PubMed:29606301).", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53#function" }, { "database": "PubMed", "id": "29606301", "url": "https://glygen.org/publication/PubMed/29606301" }, { "database": "PubMed", "id": "28495971", "url": "https://glygen.org/publication/PubMed/28495971" } ] }, { "annotation": "Homozygous loss-of-function mutations of CFAP69 are associated with abnormalities of the sperm flagella and severe asthenoteratospermia.", "evidence": [ { "database": "RefSeq", "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" }, { "database": "PubMed", "id": "30415212", "url": "https://glygen.org/publication/PubMed/30415212" } ] }, { "annotation": "Therefore, the role of CFAP69 in the olfactory system seems to be to allow the olfactory transduction machinery to work at a precisely regulated range of response kinetics for robust olfactory behavior.SIGNIFICANCE STATEMENT Sensory receptor cells are generally thought to evolve to respond to sensory cues as fast as they can.", "evidence": [ { "database": "RefSeq", "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" }, { "database": "PubMed", "id": "28495971", "url": "https://glygen.org/publication/PubMed/28495971" } ] } ], "disease": [ { "disease_id": "DOID:0111929", "recommended_name": { "id": "DOID:0111929", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111929", "name": "spermatogenic failure 24", "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13." }, "synonyms": [ { "id": "DOID:0111929", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111929", "name": "SPGF24", "description": "" }, { "id": "MONDO:0054728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054728", "name": "spermatogenic failure 24", "description": "" }, { "id": "MONDO:0054728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054728", "name": "spermatogenic failure 24", "description": "" }, { "id": "MONDO:0054728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054728", "name": "SPGF24", "description": "" }, { "id": "MIM:617959", "resource": "MIM", "url": "https://www.omim.org/entry/617959", "name": "Spermatogenic failure 24", "description": "Spermatogenic failure 24" } ], "evidence": [ { "id": "0111929", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111929" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Cfap69", "url": "https://www.uniprot.org/uniprot/Q8BH53", "locus": { "chromosome": "5", "start_pos": 5629278, "end_pos": 5714239, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000040473", "url": "https://www.ensembl.org/id/ENSMUSG00000040473" } ] } } ], "crossref": [ { "id": "ENSMUSG00000040473", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000040473", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "207686", "url": "https://www.ncbi.nlm.nih.gov/gene/207686", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:207686", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:207686", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "2443778", "url": "http://www.informatics.jax.org/marker/MGI:2443778", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "TINSDLC", "url": "https://omabrowser.org/oma/group/TINSDLC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1331946at2759", "url": "http://www.orthodb.org/?query=1331946at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14716", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14716", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14716:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14716:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PR_Q8BH53", "url": "http://purl.obolibrary.org/obo/PR_Q8BH53", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0G2JG21", "url": "https://www.uniprot.org/uniprot/A0A0G2JG21", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JG21-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JG21-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YV72", "url": "https://www.uniprot.org/uniprot/D3YV72", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YV72-1", "url": "https://www.uniprot.org/uniprot/D3YV72-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RFV9", "url": "https://www.uniprot.org/uniprot/D6RFV9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RFV9-1", "url": "https://www.uniprot.org/uniprot/D6RFV9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6Q7Y3", "url": "https://www.uniprot.org/uniprot/F6Q7Y3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6Q7Y3-1", "url": "https://www.uniprot.org/uniprot/F6Q7Y3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6S241", "url": "https://www.uniprot.org/uniprot/F6S241", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6S241-1", "url": "https://www.uniprot.org/uniprot/F6S241-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6WCD2", "url": "https://www.uniprot.org/uniprot/F6WCD2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6WCD2-1", "url": "https://www.uniprot.org/uniprot/F6WCD2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3X999", "url": "https://www.uniprot.org/uniprot/G3X999", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3X999-1", "url": "https://www.uniprot.org/uniprot/G3X999-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BH53-1", "url": "https://www.uniprot.org/uniprot/Q8BH53-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BH53-2", "url": "https://www.uniprot.org/uniprot/Q8BH53-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BH53-3", "url": "https://www.uniprot.org/uniprot/Q8BH53-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BH53-4", "url": "https://www.uniprot.org/uniprot/Q8BH53-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLATVQLLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDRNGKIVDTKRPLFTSFQEEQKTMPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 942, "header": "sp|Q8BH53-1|CFA69_MOUSE Isoform 1 of Cilia- and flagella-associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JG21-1", "url": "", "sequence": { "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLATVQLLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIDTKRPLFTSFQEEQKTMPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 771, "header": "tr|A0A0G2JG21-1|CFA69_MOUSE Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5714030, "end_pos": 5631199, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000196165.5", "url": "https://www.ensembl.org/id/ENSMUST00000196165.5" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000143393.2", "url": "https://www.ensembl.org/id/ENSMUSP00000143393.2" } ] } }, { "isoform_ac": "D3YV72-1", "url": "", "sequence": { "sequence": "MDLNRIIKVLEEEDKDVSEEKQLNYIKKLIH", "length": 31, "header": "tr|D3YV72-1|CFA69_MOUSE Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5707832, "end_pos": 5699808, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000148193.2", "url": "https://www.ensembl.org/id/ENSMUST00000148193.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000114623.2", "url": "https://www.ensembl.org/id/ENSMUSP00000114623.2" } ] } }, { "isoform_ac": "D6RFV9-1", "url": "", "sequence": { "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCG", "length": 120, "header": "tr|D6RFV9-1|D6RFV9_MOUSE Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=4 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5714030, "end_pos": 5690227, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000132510.8", "url": "https://www.ensembl.org/id/ENSMUST00000132510.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000122569.2", "url": "https://www.ensembl.org/id/ENSMUSP00000122569.2" } ] } }, { "isoform_ac": "F6Q7Y3-1", "url": "", "sequence": { "sequence": "XPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 170, "header": "tr|F6Q7Y3-1|F6Q7Y3_MOUSE Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5637211, "end_pos": 5631197, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000124734.8", "url": "https://www.ensembl.org/id/ENSMUST00000124734.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000119859.2", "url": "https://www.ensembl.org/id/ENSMUSP00000119859.2" } ] } }, { "isoform_ac": "F6S241-1", "url": "", "sequence": { "sequence": "ELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDRNGKIVDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 478, "header": "tr|F6S241-1|F6S241_MOUSE Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5667289, "end_pos": 5631199, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000148347.8", "url": "https://www.ensembl.org/id/ENSMUST00000148347.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000119944.2", "url": "https://www.ensembl.org/id/ENSMUSP00000119944.2" } ] } }, { "isoform_ac": "F6WCD2-1", "url": "", "sequence": { "sequence": "QANKSWENFLARTSNAKTLKVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 76, "header": "tr|F6WCD2-1|CFA69_MOUSE Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5632501, "end_pos": 5631199, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000155048.2", "url": "https://www.ensembl.org/id/ENSMUST00000155048.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000120771.2", "url": "https://www.ensembl.org/id/ENSMUSP00000120771.2" } ] } }, { "isoform_ac": "G3X999-1", "url": "", "sequence": { "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMILLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILAKDLTAASLLIKLW", "length": 576, "header": "tr|G3X999-1|G3X999_MOUSE Computationally mapped isoform of Cilia and flagella associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=4 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5714030, "end_pos": 5639175, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000061008.10", "url": "https://www.ensembl.org/id/ENSMUST00000061008.10" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000051741.4", "url": "https://www.ensembl.org/id/ENSMUSP00000051741.4" } ] } }, { "isoform_ac": "Q8BH53-1", "url": "", "sequence": { "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLATVQLLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDRNGKIVDTKRPLFTSFQEEQKTMPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 942, "header": "sp|Q8BH53-1|CFA69_MOUSE Isoform 1 of Cilia- and flagella-associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5714030, "end_pos": 5631199, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000054865", "url": "https://www.ensembl.org/id/ENSMUST00000054865" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000053206", "url": "https://www.ensembl.org/id/ENSMUSP00000053206" } ] } }, { "isoform_ac": "Q8BH53-2", "url": "", "sequence": { "sequence": "MIMFYCLLLPAVPVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLATVQLLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDRNGKIVDTKRPLFTSFQEEQKTMPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 610, "header": "sp|Q8BH53-2|CFA69_MOUSE Isoform 2 of Cilia- and flagella-associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": {} }, { "isoform_ac": "Q8BH53-3", "url": "", "sequence": { "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMILLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDKLAKDLTAASLLIKLWRKEEKELGVKRDRNGKIVDTKRPLFTSFQEEQKTMPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT", "length": 852, "header": "sp|Q8BH53-3|CFA69_MOUSE Isoform 3 of Cilia- and flagella-associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": {} }, { "isoform_ac": "Q8BH53-4", "url": "", "sequence": { "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLATVQLLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILAVSNIHLL", "length": 627, "header": "sp|Q8BH53-4|CFA69_MOUSE Isoform 4 of Cilia- and flagella-associated protein 69 OS=Mus musculus OX=10090 GN=Cfap69 PE=1 SV=1 CANONICAL=Q8BH53-1" }, "locus": { "chromosome": "5", "start_pos": 5714030, "end_pos": 5643751, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000135252", "url": "https://www.ensembl.org/id/ENSMUST00000135252" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000117518", "url": "https://www.ensembl.org/id/ENSMUSP00000117518" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Tissue expression patterns identify mouse cilia genes.", "journal": "Physiological genomics", "date": "2008", "authors": "McClintock TS, Glasser CE, Bose SC, Bergman DA", "evidence": [ { "database": "RefSeq", "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" } ], "reference": [ { "type": "PubMed", "id": "17971504", "url": "https://glygen.org/publication/PubMed/17971504" } ] }, { "title": "Cilia- and Flagella-Associated Protein 69 Regulates Olfactory Transduction Kinetics in Mice.", "journal": "J. Neurosci.", "date": "2017", "authors": "Talaga AK, Dong FN, Reisert J, Zhao H", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" }, { "database": "RefSeq", "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" } ], "reference": [ { "type": "PubMed", "id": "28495971", "url": "https://glygen.org/publication/PubMed/28495971" } ] }, { "title": "Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.", "journal": "Am. J. Hum. Genet.", "date": "2018", "authors": "Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lores P, Karaouzene T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Toure A, Ray PF, Zhao H, Coutton C", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" }, { "database": "RefSeq", "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" } ], "reference": [ { "type": "PubMed", "id": "29606301", "url": "https://glygen.org/publication/PubMed/29606301" } ] }, { "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", "date": "2019", "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", "evidence": [ { "database": "RefSeq", "id": "NP_766035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766035" } ], "reference": [ { "type": "PubMed", "id": "30415212", "url": "https://glygen.org/publication/PubMed/30415212" } ] } ], "pathway": [ { "id": "mmu:207686", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:207686", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A5D8W1-1", "protein_name": "Cilia- and flagella-associated protein 69", "gene_name": "CFAP69", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT", "length": 941 }, "evidence": [ { "id": "45240803", "url": "http://www.informatics.jax.org/homology/45240803", "database": "MGI" }, { "id": "Q8BH53", "url": "https://omabrowser.org/oma/group/Q8BH53/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "olfactory behavior", "id": "GO:0042048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "response to odorant", "id": "GO:1990834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "positive regulation of fertilization", "id": "GO:1905516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905516", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility", "id": "GO:1902093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902093", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" }, { "name": "axonemal central pair projection", "id": "GO:1990718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990718", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprot/Q8BH53" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 231, "end_pos": 233, "annotation": "n_glycosylation_sequon" }, { "start_pos": 834, "end_pos": 836, "annotation": "n_glycosylation_sequon" }, { "start_pos": 872, "end_pos": 874, "annotation": "n_glycosylation_sequon" }, { "start_pos": 884, "end_pos": 886, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }