CF298_DANRE
ID CF298_DANRE Reviewed; 290 AA.
AC Q6DRC3; Q7T371;
DT 20-JAN-2009, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 1.
DT 03-AUG-2022, entry version 82.
DE RecName: Full=Cilia- and flagella-associated protein 298 {ECO:0000305};
DE AltName: Full=Protein kurly {ECO:0000303|PubMed:26904945};
GN Name=cfap298 {ECO:0000250|UniProtKB:P57076};
GN Synonyms=kur {ECO:0000303|PubMed:26904945};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15256591; DOI=10.1073/pnas.0403929101;
RA Amsterdam A., Nissen R.M., Sun Z., Swindell E.C., Farrington S.,
RA Hopkins N.;
RT "Identification of 315 genes essential for early zebrafish development.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:12792-12797(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney, and Ovary;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP FUNCTION, TISSUE SPECIFICITY, AND DISRUPTION PHENOTYPE.
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 [4]
RP FUNCTION, INTERACTION WITH DNAAF1; DVL AND LRRC6, SUBCELLULAR LOCATION,
RP DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, AND MUTAGENESIS OF ILE-44.
RX PubMed=26904945; DOI=10.1016/j.celrep.2016.01.069;
RA Jaffe K.M., Grimes D.T., Schottenfeld-Roames J., Werner M.E., Ku T.S.,
RA Kim S.K., Pelliccia J.L., Morante N.F., Mitchell B.J., Burdine R.D.;
RT "c21orf59/kurly controls both cilia motility and polarization.";
RL Cell Rep. 14:1841-1849(2016).
CC -!- FUNCTION: Plays a role in motile cilium function, possibly by acting on
CC outer dynein arm assembly (PubMed:24094744, PubMed:26904945). Seems to
CC be important for initiation rather than maintenance of cilium motility
CC (PubMed:26904945). Required for correct positioning of cilia at the
CC apical cell surface, suggesting an additional role in the planar cell
CC polarity (PCP) pathway (PubMed:26904945). May suppress canonical Wnt
CC signaling activity (PubMed:26904945). {ECO:0000269|PubMed:24094744,
CC ECO:0000269|PubMed:26904945}.
CC -!- SUBUNIT: Interacts with dnaaf1/swt. Interacts with lrrc6/sea. Interacts
CC with dvl (via DEP and PDZ domains). {ECO:0000269|PubMed:26904945}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26904945}.
CC Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250|UniProtKB:A0A1L8HCK2}. Note=Appears in cytoplasmic puncta,
CC compatible with a centrosomal localization.
CC {ECO:0000269|PubMed:26904945}.
CC -!- TISSUE SPECIFICITY: Strongly expressed in ciliated tissues of the
CC embryonic trunk, including the pronephric ducts and spinal canal.
CC {ECO:0000269|PubMed:24094744}.
CC -!- DEVELOPMENTAL STAGE: Detected at the 1-cell embryo stage, probably due
CC to inheritance of maternal transcripts. At the 50% ebiboly stage,
CC detected in dorsal forerunner cells. At the 3-somite stage, found in
CC Kupffer's vesicle. At the 8-somite stage, expressed in the pronephros,
CC the floorplate of the neural tube, and otic vesicles. Expression in the
CC pronephros continues to the 24-somite stage.
CC {ECO:0000269|PubMed:26904945}.
CC -!- DISRUPTION PHENOTYPE: Larval lethal (PubMed:26904945). Animals show
CC strong ciliopathy phenotypes, including pronephric cysts, axis
CC curvature, left-right asymmetry defects and hydrocephalus
CC (PubMed:26904945). Kidney tubules are dilated and polarity of cilia in
CC the epithelium is disorganized (PubMed:26904945). Cilia length and
CC number appear normal, but outer dynein arms are missing and cilia are
CC paralyzed (PubMed:26904945). Morpholino knockdown of the protein
CC results in similar phenotypes (PubMed:24094744, PubMed:26904945).
CC {ECO:0000269|PubMed:24094744, ECO:0000269|PubMed:26904945}.
CC -!- SIMILARITY: Belongs to the CFAP298 family. {ECO:0000305}.
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DR EMBL; AY648836; AAT68154.1; -; mRNA.
DR EMBL; BC053230; AAH53230.1; -; mRNA.
DR EMBL; BC154333; AAI54334.1; -; mRNA.
DR RefSeq; NP_956382.1; NM_200088.1.
DR AlphaFoldDB; Q6DRC3; -.
DR STRING; 7955.ENSDARP00000104844; -.
DR PaxDb; Q6DRC3; -.
DR GeneID; 792532; -.
DR KEGG; dre:792532; -.
DR CTD; 56683; -.
DR ZFIN; ZDB-GENE-040930-8; cfap298.
DR eggNOG; ENOG502QQ3Z; Eukaryota.
DR InParanoid; Q6DRC3; -.
DR OrthoDB; 1079968at2759; -.
DR PhylomeDB; Q6DRC3; -.
DR PRO; PR:Q6DRC3; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IMP:ZFIN.
DR GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:ZFIN.
DR GO; GO:0044458; P:motile cilium assembly; IMP:ZFIN.
DR GO; GO:0048793; P:pronephros development; IMP:ZFIN.
DR GO; GO:0072114; P:pronephros morphogenesis; IGI:ZFIN.
DR GO; GO:0003352; P:regulation of cilium movement; IEA:InterPro.
DR InterPro; IPR021298; CFAP298.
DR PANTHER; PTHR13238; PTHR13238; 1.
DR Pfam; PF11069; CFAP298; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..290
FT /note="Cilia- and flagella-associated protein 298"
FT /id="PRO_0000360153"
FT MUTAGEN 44
FT /note="I->N: In tm304; temperature sensitive allele with
FT strongest phenotypes at 32 degrees Celsius and milder
FT phenotypes at 25 degrees Celsius. Body curvature defects
FT and kidney cysts are seen in larval stages. Left-right
FT asymmetry is abnormal with reversed or random positioning
FT of heart, liver and pancreas. Males are infertile. Cilium
FT length and number are unaffected. Initiation of cilium
FT motility is impaired, and cilium outer dynein arms are
FT absent. Cilium polarity is disorganized."
FT /evidence="ECO:0000269|PubMed:26904945"
FT CONFLICT 46
FT /note="T -> S (in Ref. 2; AAH53230)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 290 AA; 33540 MW; 8E12125FD5468A43 CRC64;
MVQLHVKRGD ESQFLFNTTV DVQIETLTQQ ICEIYNARLK VDRICTEIPE LADHGISLPP
NMQGLTDDQI VELKLKDEWE ERCIPSGGAE FKKDEIGRRN GHAPNEKMKD VLRRTMEEAK
ALISKKQLQA NVCVTMEMVK EALDQLRGAV MIVYPMGLPP HDPIRMEIEN QEDLTGTQAS
LQVITNEEAQ LWWASKELHR GKKLQDYIGK NEKTKIIVKI QKRGQGAPAR EPVVSEDEQK
QMMLHYYKRQ EELKKLEEAD DDTHLQSEWS DRQALKRQFQ GLTNIKWGPR
