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