ID   CFA53_DANRE             Reviewed;         519 AA.
AC   A0A0R4IFG5; Q08CF5;
DT   15-FEB-2017, integrated into UniProtKB/Swiss-Prot.
DT   20-JAN-2016, sequence version 1.
DT   03-AUG-2022, entry version 35.
DE   RecName: Full=Cilia- and flagella-associated protein 53 {ECO:0000305};
GN   Name=cfap53 {ECO:0000303|PubMed:26531781,
GN   ECO:0000312|ZFIN:ZDB-GENE-060503-508};
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 GENOMIC DNA].
RC   STRAIN=Tuebingen;
RX   PubMed=23594743; DOI=10.1038/nature12111;
RA   Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA   Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA   Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA   White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA   Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA   Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA   Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA   Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA   Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA   Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA   Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA   Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA   Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA   Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA   Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA   McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA   Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA   Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA   Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA   Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA   Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA   Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA   Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA   Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA   Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA   Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA   Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA   Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA   de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA   Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT   "The zebrafish reference genome sequence and its relationship to the human
RT   genome.";
RL   Nature 496:498-503(2013).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Olfactory epithelium;
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX   PubMed=26531781; DOI=10.1002/humu.22928;
RA   Noel E.S., Momenah T.S., Al-Dagriri K., Al-Suwaid A., Al-Shahrani S.,
RA   Jiang H., Willekers S., Oostveen Y.Y., Chocron S., Postma A.V.,
RA   Bhuiyan Z.A., Bakkers J.;
RT   "A zebrafish loss-of-function model for human CFAP53 mutations reveals its
RT   specific role in laterality organ function.";
RL   Hum. Mutat. 37:194-200(2016).
CC   -!- FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated
CC       doublet microtubules (DMTs) in cilia axoneme, which is required for
CC       motile cilia beating (By similarity). May play a role in the beating of
CC       primary cilia and thereby be involved in the establishment of organ
CC       laterality during embryogenesis (PubMed:26531781).
CC       {ECO:0000250|UniProtKB:F1N7G5, ECO:0000269|PubMed:26531781}.
CC   -!- SUBUNIT: Interacts with PIERCE1 and PIERCE2; the interactions link
CC       outer dynein arms docking complex (ODA-DC) to the internal microtubule
CC       inner proteins (MIP) in cilium axoneme. {ECO:0000250|UniProtKB:F1N7G5}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC       {ECO:0000250|UniProtKB:F1N7G5}.
CC   -!- DEVELOPMENTAL STAGE: First observed at tailbud stage in the developing
CC       Kupffer's vesicle, the zebrafish laterality organ. At the 10 somites
CC       stage, it is expressed in the otic vesicle and the floorplate. At 18
CC       somites it is expressed in the pronephros. From 23 somites, it is no
CC       longer detected. {ECO:0000269|PubMed:26531781}.
CC   -!- DISRUPTION PHENOTYPE: Zebrafish mutants lacking cfap53 display total
CC       organ heterotaxia. {ECO:0000269|PubMed:26531781}.
CC   -!- SIMILARITY: Belongs to the CFAP53 family. {ECO:0000305}.
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DR   EMBL; CU928762; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; FO704846; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC124260; AAI24261.1; -; mRNA.
DR   RefSeq; NP_001038595.2; NM_001045130.2.
DR   AlphaFoldDB; A0A0R4IFG5; -.
DR   SMR; A0A0R4IFG5; -.
DR   STRING; 7955.ENSDARP00000109483; -.
DR   PaxDb; A0A0R4IFG5; -.
DR   Ensembl; ENSDART00000167230; ENSDARP00000134066; ENSDARG00000100892.
DR   GeneID; 567344; -.
DR   KEGG; dre:567344; -.
DR   CTD; 220136; -.
DR   ZFIN; ZDB-GENE-060503-508; cfap53.
DR   eggNOG; ENOG502QRDR; Eukaryota.
DR   GeneTree; ENSGT00970000193642; -.
DR   OMA; MQIAHQQ; -.
DR   OrthoDB; 1167111at2759; -.
DR   PhylomeDB; A0A0R4IFG5; -.
DR   PRO; PR:A0A0R4IFG5; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 21.
DR   Bgee; ENSDARG00000100892; Expressed in testis and 22 other tissues.
DR   GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR   GO; GO:0005930; C:axoneme; IDA:ZFIN.
DR   GO; GO:0097546; C:ciliary base; IDA:ZFIN.
DR   GO; GO:0005576; C:extracellular region; IEA:GOC.
DR   GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR   GO; GO:0003341; P:cilium movement; IMP:UniProtKB.
DR   GO; GO:0007368; P:determination of left/right symmetry; IMP:ZFIN.
DR   GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IMP:ZFIN.
DR   InterPro; IPR033365; CFAP53.
DR   InterPro; IPR043596; CFAP53/TCHP.
DR   InterPro; IPR043597; TPH_dom.
DR   PANTHER; PTHR31183; PTHR31183; 1.
DR   PANTHER; PTHR31183:SF1; PTHR31183:SF1; 1.
DR   Pfam; PF13868; TPH; 1.
PE   2: Evidence at transcript level;
KW   Cell projection; Cilium; Coiled coil; Cytoplasm; Cytoskeleton;
KW   Developmental protein; Reference proteome.
FT   CHAIN           1..519
FT                   /note="Cilia- and flagella-associated protein 53"
FT                   /id="PRO_0000438834"
FT   REGION          498..519
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          80..107
FT                   /evidence="ECO:0000255"
FT   COILED          210..339
FT                   /evidence="ECO:0000255"
FT   CONFLICT        133
FT                   /note="R -> G (in Ref. 2; AAI24261)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        347
FT                   /note="S -> T (in Ref. 2; AAI24261)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   519 AA;  63183 MW;  254072D51B54B7F3 CRC64;
     MLTAQRSRIR CREITGPAHS VALKARPPLS RDIDDIFVRR RKQEATRGEV LEFTKDQSSC
     DVRMRWERNT QRRVVSATVN RHLQDALDQY QMGIDEKRER LRELLESEEL ELFKEMEAKK
     ETVLERQAKM HERAKTLRER RESERQRVVA DKLDQLFREQ SEELRAVQIK RRQDQVCTER
     ESQIRTKEEV RRVQEEEEKL FAQMWESDRL AKEERHNLEL QRQRENNLQQ KAVLQTQMDM
     AEQQRIQAKE LKQEEAQLLK DQREMLRLEA EREHRQKLQD QEKRRKQLDL SLRLKMKRLT
     RDRQEELALD MSILEQLLAQ EKDEKQDEVL KKLERQEEQR RYREYLSQQL EEQKRLEAET
     EQLFESELQQ AWARREAQWR LEKTARDRLM KDVMDTLRLQ IQEKLNENMQ KQAEAFKEKE
     ELDRIIQANK LLDEEEKAHF REATKEYQAD LLAQMMYRQR IREAEEAEKE YEFQKGLMYE
     EQYNKKIQDI LSRPISSTTA VHPFRRRDRR CSSSGGQMS