{ "uniprot_canonical_ac": "A0A140LIX9-1", "uniprot_ac": "A0A140LIX9", "uniprot_id": "A0A140LIX9_MOUSE", "mass": { "chemical_mass": 75936.0, "monoisotopic_mass": 75936.0 }, "refseq": { "ac": "XP_006504280", "name": "cilia- and flagella-associated protein 99", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006504280" }, "gene_names": [ { "name": "Cfap99", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A140LIX9", "id": "A0A140LIX9" }, { "name": "Cfap99", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006504280", "id": "XP_006504280" }, { "name": "Gm21446", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006504280", "id": "XP_006504280" } ], "protein_names": [ { "name": "Cilia and flagella associated protein 99", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A140LIX9/entry#names_and_taxonomy", "id": "A0A140LIX9" }, { "name": "cilia- and flagella-associated protein 99", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006504280", "id": "XP_006504280" } ], "function": [], "disease": [], "snv": [ { "evidence": [ { "id": "rs3543348097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543348097" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 302, "end_pos": 302, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "5", "chr_pos": "34469031", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A302", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140LIX9", "url": "https://www.uniprot.org/uniprot/A0A140LIX9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "gene": [ { "name": "Cfap99", "url": "https://www.uniprot.org/uniprot/A0A140LIX9", "locus": { "chromosome": "5", "start_pos": 34484671, "end_pos": 34445944, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000109572", "url": "https://www.ensembl.org/id/ENSMUSG00000109572" } ] } } ], "crossref": [ { "id": "A0A140LIX9", "url": "https://alphafold.ebi.ac.uk/entry/A0A140LIX9", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSMUSG00000109572", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000109572", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "100862066", "url": "https://www.ncbi.nlm.nih.gov/gene/100862066", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR039341", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039341", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "5434801", "url": "http://www.informatics.jax.org/marker/MGI:5434801", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "QLDKFKP", "url": "https://omabrowser.org/oma/group/QLDKFKP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A140LIX9", "url": "https://www.orthodb.org/?gene=A0A140LIX9", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR34649", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR34649", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR34649:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR34649:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "XP_006504280", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006504280", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A140LIX9", "url": "https://www.uniprot.org/uniprot/A0A140LIX9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LIX9-1", "url": "https://www.uniprot.org/uniprot/A0A140LIX9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTYYEKCIEIVIKQLDKFKPGKDNPEQFVETVFTSLQQTLSPQKFGFVLEVLSGCLEYHKLLTIVVDAFYARDGHTCLWSDYSLFEVICYLAIFQLEELGFQLFCSIIKSQPVRKMCKFLRFFFNPLNLSSWIKDEWSLIYETAHVMENWIDPLLRWQPEVQKLIKQLEGVPTDQIPVLKTKAKVTVPKEFNLTVPRPRAITMPEPVPTMDKPRPVPQSTYKEPKEQKLLQIIKTCNRRTAEELLLKANMEELQCAMPRVQREPQEQDVEKQLWHQSVPHIRRTPNLTFYKPNNLPVKLNTATILREGALYQRQVEKELQRVDKLVDGAGDFSEFLKWQKKMQAQDLEEQLAAGECRRLQGKLSHEEAILARQNLMQENKQKADRQKEETAELMLQCAERRLQEEKAMKELVEQVTEAQKNVKIVQTKLVKGRQQIVQEVIEESRELLQRSAKEAKEEQKRRCELIAHLRAMETQPTRKGKLVDLTQIPGYGLEGEMSVVELRERLAMLKETQKREQEEKRDQIIQDKRAKSQMIQNTVEQISLCRAAMGRTAALRWEEKKAQATSPGTPSQDERVLELKRKMEERAAERRRQTAPQLTSPPRALRPNQRAQEEMQHWLELDQSRERRLRARQEANRTCHATHHLEAS", "length": 648, "header": "tr|A0A140LIX9-1|A0A140LIX9_MOUSE Isoform 1 of Cilia and flagella associated protein 99 OS=Mus musculus OX=10090 GN=Cfap99 PE=4 SV=1 CANONICAL=A0A140LIX9-1" }, "isoforms": [ { "isoform_ac": "A0A140LIX9-1", "url": "https://www.uniprot.org/uniprotkb/A0A140LIX9/entry#A0A140LIX9-1", "sequence": { "sequence": "MTYYEKCIEIVIKQLDKFKPGKDNPEQFVETVFTSLQQTLSPQKFGFVLEVLSGCLEYHKLLTIVVDAFYARDGHTCLWSDYSLFEVICYLAIFQLEELGFQLFCSIIKSQPVRKMCKFLRFFFNPLNLSSWIKDEWSLIYETAHVMENWIDPLLRWQPEVQKLIKQLEGVPTDQIPVLKTKAKVTVPKEFNLTVPRPRAITMPEPVPTMDKPRPVPQSTYKEPKEQKLLQIIKTCNRRTAEELLLKANMEELQCAMPRVQREPQEQDVEKQLWHQSVPHIRRTPNLTFYKPNNLPVKLNTATILREGALYQRQVEKELQRVDKLVDGAGDFSEFLKWQKKMQAQDLEEQLAAGECRRLQGKLSHEEAILARQNLMQENKQKADRQKEETAELMLQCAERRLQEEKAMKELVEQVTEAQKNVKIVQTKLVKGRQQIVQEVIEESRELLQRSAKEAKEEQKRRCELIAHLRAMETQPTRKGKLVDLTQIPGYGLEGEMSVVELRERLAMLKETQKREQEEKRDQIIQDKRAKSQMIQNTVEQISLCRAAMGRTAALRWEEKKAQATSPGTPSQDERVLELKRKMEERAAERRRQTAPQLTSPPRALRPNQRAQEEMQHWLELDQSRERRLRARQEANRTCHATHHLEAS", "length": 648, "header": "tr|A0A140LIX9-1|A0A140LIX9_MOUSE Isoform 1 of Cilia and flagella associated protein 99 OS=Mus musculus OX=10090 GN=Cfap99 PE=4 SV=1 CANONICAL=A0A140LIX9-1" }, "locus": { "chromosome": "5", "start_pos": 34484668, "end_pos": 34454853, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000207754.2", "url": "https://www.ensembl.org/id/ENSMUST00000207754.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000146999.2", "url": "https://www.ensembl.org/id/ENSMUSP00000146999.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool": "isoglyp", "mining_tool": "", "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "start_pos": 569, "start_aa": "T", "end_pos": 569, "end_aa": "T", "residue": "Thr", "site_lbl": "Thr569", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ], "filter_code": "00000000000000001000.00000000001000.1.01000" } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "A0A3Q1M0E2-1", "protein_name": "Cilia and flagella associated protein 99", "gene_name": "CFAP99", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MTYYGKCIEMVMKHLDRFQPEKDSPEQFLEATAASLQTLSPQKQAFIMEILSGCLEYHKLLTIVVDAFYVRDGRLCLRADYSLFEVICYLATFQLEELGFQLFRDVVRSQPVHKVCQFLRFLFNPLNLGSWIKDEWSLVYETSHVKENWIDPLMRWQPEIQELIDQLQGELTSQLSPPKSKAKVTEPKELSLTTPRPRAIPVPEPVPQVAKTRPVSGAGLRGPGLCRQGAWELLLQANFEELRCAVPRSRGEPQLQVTPPLMPPPTPVTSCPNPLPQPNDNAPVKLNTAAILREGALYQRQVEKELQRVDRLVDGAGDFSEFLEWQRRMQAKDREEQLAAGEVRRLRGKLSHEEAVLARQQVAREKRRTAELKKEETAELMQRCAERRLQEEKSTKELVEQVMETQKNVRVAQTELRKGRRRIAQEVTEENRELLQRSAEAAKEEQRRRCTLVSQLRALEFQPTRRGKLVDLTQIPGHGLEGEMSVVELRERLALLKETRRLQEEERRDQIIQGKRAKSQELRDTVEQVALCRAAMGRSAALRWEEKKARWAAAGAPSQDERVLELQRRIQERRASRRPPPPALPQAQLEAQRRLELERSRERWLRAQQPGCGPARRLGAA", "length": 621 }, "evidence": [ { "id": "A0A140LIX9", "url": "https://omabrowser.org/oma/group/A0A140LIX9/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" }, { "uniprot_canonical_ac": "A0A8I6A7Q4-1", "protein_name": "Cilia and flagella associated protein 99", "gene_name": "Cfap99", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAYYEKCIETVIKQLDKFKPEKDNPEQFLETVFTSLQQTLTPQKLGFVLEVLSGCLEYQKLLTIVVDAFYARDGRLCLWSDYSLFEVICYLATFQLDELGFQLFCSIIKSQPVGKICKFLRFFFNPLNLCSWIKDEWSLIYETDHVTENWINPLMRWQPEIQELIKQLEGGPSDHIPLLKTKAKLTVPKEFNLTVPRPRAITMPEPVPTIPKSKPVPQSTYQEPKEQKLLQMIKTHNRRTAEELLLKANMEELRCAMPRLQKEPQAQEVEKKLWHQSVPSIRRTPNLTFYKPNKLPVKLNTATILREGALYQRQVEKELQRVDKLVDGAGDFSEFLEWQKKMQAKDLEEQLAAGECRRLQGKLSHEEAILARQNLVQENKQKADKQKEESAELMLQCAERRLQEEKAMKELVEQVMEAQKNVKIVQMKLVKGRQQIVQEVIEESRELLQNSTKAAKEEQKRRCELIAQLRALETQPTRKEKLVDLTEIPGYGLEGEMSVVELRERLALLKESQKREQEEKRDQIIQSKRAKSQMLQNTVEQISLCRAAMGRTAALRWEEKKAQATSLATPSQDERVLELKRKMEERAAERRRQTAAPQQVVSPPRTQRPQLRAQEMLQHWVEMDQSRERRLRERQEANRPCHPTHHHLEAS", "length": 651 }, "evidence": [ { "id": "47570599", "url": "http://www.informatics.jax.org/homology/47570599", "database": "MGI" }, { "id": "A0A140LIX9", "url": "https://omabrowser.org/oma/group/A0A140LIX9/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "D6REC4-1", "protein_name": "Cilia- and flagella-associated protein 99", "gene_name": "CFAP99", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAYYGKCIETVIEQLDKFTPKRDNPEQFLEAAATSLQALSPQKQSFVLEVLSGCLEYRKLLTVVVDAFYVEDGRLCLRVDHSRFEVICYLATFLLEELGFQLFCNIIKSQPVDKMCKFLRFFFNPLHLCSWIKDEWSLIYEPAHVKENWIDPLMRWQPEVQELINHLEGVSASQSSPLKTKAKVTEPKEFNLTAPRPRTIPAPEPVPVVAKPRPVPQSTYQPPKEQQQLETVKRYNRRKAEELLLRANIEELRCAMPRSCRERVQGSKQQLRLQFPPRIRKTPKLTFYRPDNILVKLNTTAILREGALYQRQVEQELQRVDKLVDGAGDFSEFFEWQKKMQAKDREEQLAASECRRLQGKLSHEEAVLARQSLMQENKQRVEQQKEQMAKLMLQRAERRLREDRSRKELVEQVIEGQKNAKAAQTKLAKGRQQTVQEAIEESRGLLQRRAQAAQEEQRRRCELISQLRALETQPTRKGKLVDLTQIPGYGLEGEMSIVELRERLALLKENQRRKEEEKRDQIIQGKHTKSQELQNMVEQISLCRAAMGRSAALRWEEKKALAAAPAAPSQDERVQQLRRRISERAAERSRQAALLHVSAPRTARPKPRVSPDWWEEPGRLKAGAGWGWRARRAGTGVPGRGWRGDRVRSAAGRYAAAGAGGGGGVPARADAFPGLQAQLEAQHWLELERSRERRLQALQQGGSGPGPARRLEAA", "length": 714 }, "evidence": [ { "id": "A0A140LIX9", "url": "https://omabrowser.org/oma/group/A0A140LIX9/", "database": "OMA" } ], "glygen_name": "Human", "common_name": "Human" } ], "go_annotation": {}, "pro_annotation": [], "site_annotation": [ { "start_pos": 128, "end_pos": 130, "annotation": "n_glycosylation_sequon" }, { "start_pos": 192, "end_pos": 194, "annotation": "n_glycosylation_sequon" }, { "start_pos": 286, "end_pos": 288, "annotation": "n_glycosylation_sequon" }, { "start_pos": 636, "end_pos": 638, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [ { "pdb_id": "AF-A0A140LIX9-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 648, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-A0A140LIX9-F1.pdb" } ], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 569 ], "snv_sites": [ 302 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 128, "end_pos": 130 }, { "start_pos": 192, "end_pos": 194 }, { "start_pos": 286, "end_pos": 288 }, { "start_pos": 636, "end_pos": 638 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "prediction_tool", "mining_tool", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "prediction_tool", "mining_tool", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }