{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P57076","secondaryAccessions":["Q53FH0"],"uniProtkbId":"CF298_HUMAN","entryAudit":{"firstPublicDate":"2000-12-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2000-12-01","entryVersion":168,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Cilia- and flagella-associated protein 298"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Protein kurly homolog"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:1301"}],"value":"CFAP298"},"synonyms":[{"value":"C21orf48"},{"value":"C21orf59"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6DRC3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24094744"}],"value":"Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29601588"}],"value":"Interacts with ZMYND10"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P57076","intActId":"EBI-7205010"},"interactantTwo":{"uniProtKBAccession":"O00628","geneName":"PEX7","intActId":"EBI-5238811"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q5U3Z0"}],"value":"Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29601588"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A0A1L8HCK2"}],"value":"Cytoplasm, cytoskeleton, cilium basal body","id":"SL-0087"}}]},{"commentType":"DISEASE","disease":{"diseaseId":"Ciliary dyskinesia, primary, 26","diseaseAccession":"DI-03936","acronym":"CILD26","description":"A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.","diseaseCrossReference":{"database":"MIM","id":"615500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24094744"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the CFAP298 family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":290,"modifier":"EXACT"}},"description":"Cilia- and flagella-associated protein 298","featureId":"PRO_0000079523"},{"type":"Modified residue","location":{"start":{"value":264,"modifier":"EXACT"},"end":{"value":264,"modifier":"EXACT"}},"description":"Phosphotyrosine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"15592455"}]},{"type":"Natural variant","location":{"start":{"value":33,"modifier":"EXACT"},"end":{"value":33,"modifier":"EXACT"}},"description":"in dbSNP:rs753786167","featureCrossReferences":[{"database":"dbSNP","id":"rs753786167"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24094744"}],"featureId":"VAR_070200","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":141,"modifier":"EXACT"},"end":{"value":141,"modifier":"EXACT"}},"description":"in CILD26; uncertain significance; hypomorphic mutation; dbSNP:rs140727644","featureCrossReferences":[{"database":"dbSNP","id":"rs140727644"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24094744"}],"featureId":"VAR_070201","alternativeSequence":{"originalSequence":"D","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":173,"modifier":"EXACT"},"end":{"value":173,"modifier":"EXACT"}},"description":"in dbSNP:rs540473945","featureCrossReferences":[{"database":"dbSNP","id":"rs540473945"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24094744"}],"featureId":"VAR_070202","alternativeSequence":{"originalSequence":"D","alternativeSequences":["Y"]}},{"type":"Sequence conflict","location":{"start":{"value":176,"modifier":"EXACT"},"end":{"value":176,"modifier":"EXACT"}},"description":"in Ref. 2; BAD97038","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}}],"keywords":[{"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"id":"KW-1186","category":"Disease","name":"Ciliopathy"},{"id":"KW-0969","category":"Cellular component","name":"Cilium"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0206","category":"Cellular component","name":"Cytoskeleton"},{"id":"KW-1012","category":"Disease","name":"Kartagener syndrome"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-0990","category":"Disease","name":"Primary ciliary dyskinesia"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"CI-3RB5H4K63OE3H","citationType":"submission","authors":["Lutfalla G."],"publicationDate":"JUN-2000","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA]"]},{"referenceNumber":2,"citation":{"id":"CI-5AVBODINQ93DF","citationType":"submission","authors":["Suzuki Y.","Sugano S.","Totoki Y.","Toyoda A.","Takeda T.","Sakaki Y.","Tanaka A.","Yokoyama S."],"publicationDate":"APR-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Thymus","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"10830953","citationType":"journal article","authors":["Hattori M.","Fujiyama A.","Taylor T.D.","Watanabe H.","Yada T.","Park H.-S.","Toyoda A.","Ishii K.","Totoki Y.","Choi D.-K.","Groner Y.","Soeda E.","Ohki M.","Takagi T.","Sakaki Y.","Taudien S.","Blechschmidt K.","Polley A.","Menzel U.","Delabar J.","Kumpf K.","Lehmann R.","Patterson D.","Reichwald K.","Rump A.","Schillhabel M.","Schudy A.","Zimmermann W.","Rosenthal A.","Kudoh J.","Shibuya K.","Kawasaki K.","Asakawa S.","Shintani A.","Sasaki T.","Nagamine K.","Mitsuyama S.","Antonarakis S.E.","Minoshima S.","Shimizu N.","Nordsiek G.","Hornischer K.","Brandt P.","Scharfe M.","Schoen O.","Desario A.","Reichelt J.","Kauer G.","Bloecker H.","Ramser J.","Beck A.","Klages S.","Hennig S.","Riesselmann L.","Dagand E.","Wehrmeyer S.","Borzym K.","Gardiner K.","Nizetic D.","Francis F.","Lehrach H.","Reinhardt R.","Yaspo M.-L."],"citationCrossReferences":[{"database":"PubMed","id":"10830953"},{"database":"DOI","id":"10.1038/35012518"}],"title":"The DNA sequence of human chromosome 21.","publicationDate":"2000","journal":"Nature","firstPage":"311","lastPage":"319","volume":"405"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"15592455","citationType":"journal article","authors":["Rush J.","Moritz A.","Lee K.A.","Guo A.","Goss V.L.","Spek E.J.","Zhang H.","Zha X.-M.","Polakiewicz R.D.","Comb M.J."],"citationCrossReferences":[{"database":"PubMed","id":"15592455"},{"database":"DOI","id":"10.1038/nbt1046"}],"title":"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.","publicationDate":"2005","journal":"Nat. Biotechnol.","firstPage":"94","lastPage":"101","volume":"23"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-264","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":6,"citation":{"id":"24094744","citationType":"journal article","authors":["Austin-Tse C.","Halbritter J.","Zariwala M.A.","Gilberti R.M.","Gee H.Y.","Hellman N.","Pathak N.","Liu Y.","Panizzi J.R.","Patel-King R.S.","Tritschler D.","Bower R.","O'Toole E.","Porath J.D.","Hurd T.W.","Chaki M.","Diaz K.A.","Kohl S.","Lovric S.","Hwang D.Y.","Braun D.A.","Schueler M.","Airik R.","Otto E.A.","Leigh M.W.","Noone P.G.","Carson J.L.","Davis S.D.","Pittman J.E.","Ferkol T.W.","Atkinson J.J.","Olivier K.N.","Sagel S.D.","Dell S.D.","Rosenfeld M.","Milla C.E.","Loges N.T.","Omran H.","Porter M.E.","King S.M.","Knowles M.R.","Drummond I.A.","Hildebrandt F."],"citationCrossReferences":[{"database":"PubMed","id":"24094744"},{"database":"DOI","id":"10.1016/j.ajhg.2013.08.015"}],"title":"Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia.","publicationDate":"2013","journal":"Am. J. Hum. Genet.","firstPage":"672","lastPage":"686","volume":"93"},"referencePositions":["FUNCTION","INVOLVEMENT IN CILD26","VARIANTS TRP-33; GLY-141 AND TYR-173"]},{"referenceNumber":7,"citation":{"id":"29601588","citationType":"journal article","authors":["Cho K.J.","Noh S.H.","Han S.M.","Choi W.I.","Kim H.Y.","Yu S.","Lee J.S.","Rim J.H.","Lee M.G.","Hildebrandt F.","Gee H.Y."],"citationCrossReferences":[{"database":"PubMed","id":"29601588"},{"database":"DOI","id":"10.1371/journal.pgen.1007316"}],"title":"ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.","publicationDate":"2018","journal":"PLoS Genet.","firstPage":"E1007316","lastPage":"E1007316","volume":"14"},"referencePositions":["INTERACTION WITH ZMYND10","SUBCELLULAR LOCATION"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AF282851","properties":[{"key":"ProteinId","value":"AAG00496.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK223318","properties":[{"key":"ProteinId","value":"BAD97038.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AP000275","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC000709","properties":[{"key":"ProteinId","value":"AAH00709.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS13617.1","properties":[{"key":"Description","value":"-"}]},{"database":"RefSeq","id":"NP_067077.1","properties":[{"key":"NucleotideSequenceId","value":"NM_021254.4"}]},{"database":"AlphaFoldDB","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"121187","properties":[{"key":"Interactions","value":"88"}]},{"database":"CORUM","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"P57076","properties":[{"key":"Number of interactors","value":"2392"}]},{"database":"IntAct","id":"P57076","properties":[{"key":"Interactions","value":"70"}]},{"database":"MINT","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"STRING","id":"9606.ENSP00000290155","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"P57076","properties":[{"key":"glycosylation","value":"1 site, 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"C21orf59","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"10719917","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000290155","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"56984","properties":[{"key":"Description","value":"-"}]},{"database":"Pumba","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"6941","properties":[{"key":"antibodies","value":"196 antibodies from 20 providers"}]},{"database":"DNASU","id":"56683","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000290155.8","properties":[{"key":"ProteinId","value":"ENSP00000290155.3"},{"key":"GeneId","value":"ENSG00000159079.20"}]},{"database":"GeneID","id":"56683","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:56683","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000290155.8","properties":[{"key":"ProteinId","value":"ENSP00000290155.3"},{"key":"RefSeqNucleotideId","value":"NM_021254.4"},{"key":"RefSeqProteinId","value":"NP_067077.1"}]},{"database":"UCSC","id":"uc002yqc.4","properties":[{"key":"OrganismName","value":"human"}]},{"database":"AGR","id":"HGNC:1301","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA25854","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"56683","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"56683","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"CFAP298","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:1301","properties":[{"key":"GeneName","value":"CFAP298"}]},{"database":"HPA","id":"ENSG00000159079","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"CFAP298","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"615494","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"615500","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000159079","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"244","properties":[{"key":"Disease","value":"Primary ciliary dyskinesia"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000159079","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QQ3Z","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000006278","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_064854_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"YRKQEEW","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"276065at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"P57076","properties":[{"key":"Number of GO annotations","value":"0 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"P57076","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000159079","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"56683","properties":[{"key":"hits","value":"800 hits in 1138 CRISPR screens"}]},{"database":"ChiTaRS","id":"C21orf59","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"C21orf59","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"56683","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"P57076","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:P57076","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 21"}]},{"database":"RNAct","id":"P57076","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000159079","properties":[{"key":"ExpressionPatterns","value":"Expressed in right uterine tube and 108 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"P57076","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29601588"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"HDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0007005","source":"PubMed","id":"16780588"}]},{"database":"GO","id":"GO:0060271","properties":[{"key":"GoTerm","value":"P:cilium assembly"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"24094744"}]},{"database":"GO","id":"GO:0003352","properties":[{"key":"GoTerm","value":"P:regulation of cilium movement"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"24094744"}]},{"database":"InterPro","id":"IPR021298","properties":[{"key":"EntryName","value":"CFAP298"}]},{"database":"PANTHER","id":"PTHR13238:SF0","properties":[{"key":"EntryName","value":"CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 298"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR13238","properties":[{"key":"EntryName","value":"PROTEIN C21ORF59"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF11069","properties":[{"key":"EntryName","value":"CFAP298"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWGEKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPPYDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQGAPAREPIISSEEQKQLMLYYHRRQEELKRLEENDDDAYLNSPWADNTALKRHFHGVKDIKWRPR","length":290,"molWeight":33224,"crc64":"4C56A8C989B108DD","md5":"A73E6ABA9F5CB5E98EF93EC7BC20843E"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":1,"SUBCELLULAR LOCATION":1,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Chain":1,"Modified residue":1,"Natural variant":3,"Sequence conflict":1},"uniParcId":"UPI00001286B0"}}