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CCD39_DANRE
ID   CCD39_DANRE             Reviewed;         947 AA.
AC   P0CK98; E7F0V3;
DT   08-MAR-2011, integrated into UniProtKB/Swiss-Prot.
DT   04-FEB-2015, sequence version 2.
DT   03-AUG-2022, entry version 55.
DE   RecName: Full=Coiled-coil domain-containing protein 39 {ECO:0000305};
GN   Name=ccdc39;
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   DISRUPTION PHENOTYPE.
RX   PubMed=21131972; DOI=10.1038/ng.726;
RA   Merveille A.C., Davis E.E., Becker-Heck A., Legendre M., Amirav I.,
RA   Bataille G., Belmont J., Beydon N., Billen F., Clement A., Clercx C.,
RA   Coste A., Crosbie R., de Blic J., Deleuze S., Duquesnoy P., Escalier D.,
RA   Escudier E., Fliegauf M., Horvath J., Hill K., Jorissen M., Just J.,
RA   Kispert A., Lathrop M., Loges N.T., Marthin J.K., Momozawa Y.,
RA   Montantin G., Nielsen K.G., Olbrich H., Papon J.F., Rayet I., Roger G.,
RA   Schmidts M., Tenreiro H., Towbin J.A., Zelenika D., Zentgraf H.,
RA   Georges M., Lequarre A.S., Katsanis N., Omran H., Amselem S.;
RT   "CCDC39 is required for assembly of inner dynein arms and the dynein
RT   regulatory complex and for normal ciliary motility in humans and dogs.";
RL   Nat. Genet. 43:72-78(2011).
CC   -!- FUNCTION: Required for assembly of dynein regulatory complex (DRC) and
CC       inner dynein arm (IDA) complexes, which are responsible for ciliary
CC       beat regulation, thereby playing a central role in motility in cilia
CC       and flagella. Probably acts together with ccdc40 to form a molecular
CC       ruler that determines the 96 nanometer (nm) repeat length and
CC       arrangements of components in cilia and flagella. Not required for
CC       outer dynein arm complexes assembly. {ECO:0000250|UniProtKB:A8IQT2,
CC       ECO:0000250|UniProtKB:Q9UFE4}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC       {ECO:0000250|UniProtKB:Q9UFE4}.
CC   -!- DISRUPTION PHENOTYPE: Defects are the cause of a phenotype related to
CC       primary ciliary dyskinesia (PCD). Embryos display heart-looping defects
CC       at 36 hours post-fertilization and bilateral or lack of spaw expression
CC       at the left lateral plate mesoderm in 14 somite embryos, consistent
CC       with compromised fluid flow at the Kupffer's vesicle due to impaired
CC       ciliary motility. {ECO:0000269|PubMed:21131972}.
CC   -!- SIMILARITY: Belongs to the CCDC39 family. {ECO:0000305}.
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DR   EMBL; CABZ01021592; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CABZ01055305; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CABZ01055306; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CABZ01055307; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CABZ01055310; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CABZ01068420; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CABZ01068421; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CABZ01080220; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; XP_017206828.1; XM_017351339.1.
DR   AlphaFoldDB; P0CK98; -.
DR   SMR; P0CK98; -.
DR   STRING; 7955.ENSDARP00000022810; -.
DR   PaxDb; P0CK98; -.
DR   ZFIN; ZDB-GENE-110603-1; ccdc39.
DR   eggNOG; ENOG502QS0D; Eukaryota.
DR   InParanoid; P0CK98; -.
DR   PhylomeDB; P0CK98; -.
DR   TreeFam; TF329312; -.
DR   PRO; PR:P0CK98; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR   GO; GO:0005576; C:extracellular region; IEA:GOC.
DR   GO; GO:0070286; P:axonemal dynein complex assembly; ISS:UniProtKB.
DR   GO; GO:0003341; P:cilium movement; IBA:GO_Central.
DR   GO; GO:0060285; P:cilium-dependent cell motility; 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:UniProtKB.
DR   GO; GO:0036159; P:inner dynein arm assembly; IBA:GO_Central.
DR   InterPro; IPR033290; CCDC39.
DR   PANTHER; PTHR18962; PTHR18962; 1.
PE   3: Inferred from homology;
KW   Cell projection; Ciliopathy; Cilium; Coiled coil; Cytoplasm; Cytoskeleton;
KW   Primary ciliary dyskinesia; Reference proteome.
FT   CHAIN           1..947
FT                   /note="Coiled-coil domain-containing protein 39"
FT                   /id="PRO_0000405818"
FT   REGION          866..947
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          16..194
FT                   /evidence="ECO:0000255"
FT   COILED          221..402
FT                   /evidence="ECO:0000255"
FT   COILED          471..522
FT                   /evidence="ECO:0000255"
FT   COILED          582..813
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        866..916
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        924..947
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   947 AA;  108989 MW;  BBC9949973C51E69 CRC64;
     MSSALLEEVG WDADFAIPVA NAENKALEEQ IRKKQKDILN LDNKLNKHKD VINALTEHLK
     NLKQEVSHNQ ALCKAKEKET ESEVHLKALA ERETGRLKQE ITRLESQLTT LNEKKNAQEN
     SIFKATQKID ELTSQLNWDQ QTLEAFLQES AHKDEDTMAI IKYAKQDERK IKELTLNIEK
     LTLESNQKRK TLDNELTETV TSQIALDKTA ESFRQAHTER QELISQWENT IEQMRKRDQD
     IQQCAMMLAE LNQTIREKND LIKERKDFLE REIENNKELE RNIGTVERQA FRLRQQLQEE
     EKNQRRLQDE VEVLKGTVDR TATDVETSRS QLSSMKKDIQ DKTTKVEEAQ LHNAALEEKL
     RMVTEAVLNG EEQAAQMEQL LREQEQNIKE IDSQLLRQKE LLFKKSQEVQ ALRDKEKNVT
     AEICATRTAL SNLDSKLRKL DQNFLQQQMI ISNQDFQIQM LERKTLHLQG KVNTEEKKAL
     EKKVADLAAS LEEKKKTAAN LNKQLKKLQD DIRCIKKDTE KIGAEKTNLS TKIQEVELFI
     ETSEKERKKS RLKKQDSMVE KGLLKMEVQR LRNLLYDRAD GVLTLEKRRL QLQTAMKERE
     EEIRVHREML NKQVKLTEQE RQGLSAAVNE AMSKIDKQRK RYEVLSVSLA PPEGEEDKSQ
     AYFIIKAAQE KEELQRKGDE LDAKIRKTEK EIHALENTLQ VVNNCNSTHR KALTKVTESS
     PAHQEKLKLE EQRRAAEEKY KYKRRQTQEL QEDIESMSNT LEGLLQEEKV LNEGIERTQA
     HVLSLNKDIL SQEEKINRAV KQCAKYTKEI RSGKQSTEKT FEERDIELRE LRDFNKSINK
     MLLDAMEGNP ELSSILQIHF TQAGLSLPSP SSTPSSRLSS KPSSARSSAS LHRSSNLSAS
     SSPRSQSVSS PQMKTVDLGL GLSVTSPRGS QPSSAGSSRS SSKCKSP
 
 
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