CF298_HUMAN
ID CF298_HUMAN Reviewed; 290 AA.
AC P57076; Q53FH0;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2000, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Cilia- and flagella-associated protein 298 {ECO:0000305};
DE AltName: Full=Protein kurly homolog {ECO:0000305};
GN Name=CFAP298 {ECO:0000312|HGNC:HGNC:1301}; Synonyms=C21orf48, C21orf59;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Lutfalla G.;
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Thymus;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-264, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=15592455; DOI=10.1038/nbt1046;
RA Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H.,
RA Zha X.-M., Polakiewicz R.D., Comb M.J.;
RT "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.";
RL Nat. Biotechnol. 23:94-101(2005).
RN [6]
RP FUNCTION, INVOLVEMENT IN CILD26, AND VARIANTS TRP-33; GLY-141 AND TYR-173.
RX PubMed=24094744; DOI=10.1016/j.ajhg.2013.08.015;
RA Austin-Tse C., Halbritter J., Zariwala M.A., Gilberti R.M., Gee H.Y.,
RA Hellman N., Pathak N., Liu Y., Panizzi J.R., Patel-King R.S.,
RA Tritschler D., Bower R., O'Toole E., Porath J.D., Hurd T.W., Chaki M.,
RA Diaz K.A., Kohl S., Lovric S., Hwang D.Y., Braun D.A., Schueler M.,
RA Airik R., Otto E.A., Leigh M.W., Noone P.G., Carson J.L., Davis S.D.,
RA Pittman J.E., Ferkol T.W., Atkinson J.J., Olivier K.N., Sagel S.D.,
RA Dell S.D., Rosenfeld M., Milla C.E., Loges N.T., Omran H., Porter M.E.,
RA King S.M., Knowles M.R., Drummond I.A., Hildebrandt F.;
RT "Zebrafish ciliopathy screen plus human mutational analysis identifies
RT C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia.";
RL Am. J. Hum. Genet. 93:672-686(2013).
RN [7]
RP INTERACTION WITH ZMYND10, AND SUBCELLULAR LOCATION.
RX PubMed=29601588; DOI=10.1371/journal.pgen.1007316;
RA Cho K.J., Noh S.H., Han S.M., Choi W.I., Kim H.Y., Yu S., Lee J.S.,
RA Rim J.H., Lee M.G., Hildebrandt F., Gee H.Y.;
RT "ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-
RT assembly of dynein arms.";
RL PLoS Genet. 14:E1007316-E1007316(2018).
CC -!- FUNCTION: Plays a role in motile cilium function, possibly by acting on
CC outer dynein arm assembly (PubMed:24094744). Seems to be important for
CC initiation rather than maintenance of cilium motility (By similarity).
CC Required for correct positioning of the cilium at the apical cell
CC surface, suggesting an additional role in the planar cell polarity
CC (PCP) pathway (By similarity). May suppress canonical Wnt signaling
CC activity (By similarity). {ECO:0000250|UniProtKB:Q6DRC3,
CC ECO:0000269|PubMed:24094744}.
CC -!- SUBUNIT: Interacts with ZMYND10. {ECO:0000269|PubMed:29601588}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29601588}.
CC Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250|UniProtKB:A0A1L8HCK2}. Note=Partially colocalized with
CC SASS6 in cytoplasmic puncta, suggesting a centrosomal localization.
CC {ECO:0000250|UniProtKB:Q5U3Z0}.
CC -!- DISEASE: Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia. Patients may
CC exhibit randomization of left-right body asymmetry and situs inversus,
CC due to dysfunction of monocilia at the embryonic node. Primary ciliary
CC dyskinesia associated with situs inversus is referred to as Kartagener
CC syndrome. {ECO:0000269|PubMed:24094744}. Note=The disease is caused by
CC variants affecting the gene represented in this entry. Cilia in nasal
CC epithelia show the absence of both outer and inner dynein-arm
CC components and complete paralysis.
CC -!- SIMILARITY: Belongs to the CFAP298 family. {ECO:0000305}.
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DR EMBL; AF282851; AAG00496.1; -; mRNA.
DR EMBL; AK223318; BAD97038.1; -; mRNA.
DR EMBL; AP000275; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000709; AAH00709.1; -; mRNA.
DR CCDS; CCDS13617.1; -.
DR RefSeq; NP_067077.1; NM_021254.2.
DR AlphaFoldDB; P57076; -.
DR BioGRID; 121187; 52.
DR IntAct; P57076; 32.
DR MINT; P57076; -.
DR STRING; 9606.ENSP00000290155; -.
DR GlyGen; P57076; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P57076; -.
DR PhosphoSitePlus; P57076; -.
DR BioMuta; C21orf59; -.
DR DMDM; 10719917; -.
DR EPD; P57076; -.
DR jPOST; P57076; -.
DR MassIVE; P57076; -.
DR MaxQB; P57076; -.
DR PaxDb; P57076; -.
DR PeptideAtlas; P57076; -.
DR PRIDE; P57076; -.
DR ProteomicsDB; 56984; -.
DR Antibodypedia; 6941; 187 antibodies from 20 providers.
DR DNASU; 56683; -.
DR Ensembl; ENST00000290155.8; ENSP00000290155.3; ENSG00000159079.19.
DR GeneID; 56683; -.
DR KEGG; hsa:56683; -.
DR MANE-Select; ENST00000290155.8; ENSP00000290155.3; NM_021254.4; NP_067077.1.
DR UCSC; uc002yqc.4; human.
DR CTD; 56683; -.
DR DisGeNET; 56683; -.
DR GeneCards; CFAP298; -.
DR GeneReviews; CFAP298; -.
DR HGNC; HGNC:1301; CFAP298.
DR HPA; ENSG00000159079; Low tissue specificity.
DR MalaCards; CFAP298; -.
DR MIM; 615494; gene.
DR MIM; 615500; phenotype.
DR neXtProt; NX_P57076; -.
DR OpenTargets; ENSG00000159079; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA25854; -.
DR VEuPathDB; HostDB:ENSG00000159079; -.
DR eggNOG; ENOG502QQ3Z; Eukaryota.
DR GeneTree; ENSGT00390000006278; -.
DR HOGENOM; CLU_064854_0_0_1; -.
DR InParanoid; P57076; -.
DR OMA; QKQMMMH; -.
DR OrthoDB; 1079968at2759; -.
DR PhylomeDB; P57076; -.
DR TreeFam; TF323482; -.
DR PathwayCommons; P57076; -.
DR SignaLink; P57076; -.
DR BioGRID-ORCS; 56683; 764 hits in 1055 CRISPR screens.
DR ChiTaRS; C21orf59; human.
DR GeneWiki; C21orf59; -.
DR GenomeRNAi; 56683; -.
DR Pharos; P57076; Tbio.
DR PRO; PR:P57076; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P57076; protein.
DR Bgee; ENSG00000159079; Expressed in right uterine tube and 106 other tissues.
DR ExpressionAtlas; P57076; baseline and differential.
DR Genevisible; P57076; HS.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0005829; C:cytosol; HDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0003352; P:regulation of cilium movement; IMP:UniProtKB.
DR InterPro; IPR021298; CFAP298.
DR PANTHER; PTHR13238; PTHR13238; 1.
DR Pfam; PF11069; CFAP298; 1.
PE 1: Evidence at protein level;
KW Cell projection; Ciliopathy; Cilium; Cytoplasm; Cytoskeleton;
KW Kartagener syndrome; Phosphoprotein; Primary ciliary dyskinesia;
KW Reference proteome.
FT CHAIN 1..290
FT /note="Cilia- and flagella-associated protein 298"
FT /id="PRO_0000079523"
FT MOD_RES 264
FT /note="Phosphotyrosine"
FT /evidence="ECO:0007744|PubMed:15592455"
FT VARIANT 33
FT /note="R -> W (in dbSNP:rs753786167)"
FT /evidence="ECO:0000269|PubMed:24094744"
FT /id="VAR_070200"
FT VARIANT 141
FT /note="D -> G (in CILD26; unknown pathological
FT significance; hypomorphic mutation; dbSNP:rs140727644)"
FT /evidence="ECO:0000269|PubMed:24094744"
FT /id="VAR_070201"
FT VARIANT 173
FT /note="D -> Y (in dbSNP:rs540473945)"
FT /evidence="ECO:0000269|PubMed:24094744"
FT /id="VAR_070202"
FT CONFLICT 176
FT /note="G -> E (in Ref. 2; BAD97038)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 290 AA; 33224 MW; 4C56A8C989B108DD CRC64;
MVLLHVKRGD ESQFLLQAPG STELEELTVQ VARVYNGRLK VQRLCSEMEE LAEHGIFLPP
NMQGLTDDQI EELKLKDEWG EKCVPSGGAV FKKDDIGRRN GQAPNEKMKQ VLKKTIEEAK
AIISKKQVEA GVCVTMEMVK DALDQLRGAV MIVYPMGLPP YDPIRMEFEN KEDLSGTQAG
LNVIKEAEAQ LWWAAKELRR TKKLSDYVGK NEKTKIIAKI QQRGQGAPAR EPIISSEEQK
QLMLYYHRRQ EELKRLEEND DDAYLNSPWA DNTALKRHFH GVKDIKWRPR
