ID   CCD39_CANLF             Reviewed;         939 AA.
AC   E2R1I5;
DT   08-MAR-2011, integrated into UniProtKB/Swiss-Prot.
DT   30-NOV-2010, sequence version 1.
DT   25-MAY-2022, entry version 45.
DE   RecName: Full=Coiled-coil domain-containing protein 39 {ECO:0000305};
GN   Name=CCDC39;
OS   Canis lupus familiaris (Dog) (Canis familiaris).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis.
OX   NCBI_TaxID=9615;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Boxer;
RX   PubMed=16341006; DOI=10.1038/nature04338;
RA   Lindblad-Toh K., Wade C.M., Mikkelsen T.S., Karlsson E.K., Jaffe D.B.,
RA   Kamal M., Clamp M., Chang J.L., Kulbokas E.J. III, Zody M.C., Mauceli E.,
RA   Xie X., Breen M., Wayne R.K., Ostrander E.A., Ponting C.P., Galibert F.,
RA   Smith D.R., deJong P.J., Kirkness E.F., Alvarez P., Biagi T., Brockman W.,
RA   Butler J., Chin C.-W., Cook A., Cuff J., Daly M.J., DeCaprio D., Gnerre S.,
RA   Grabherr M., Kellis M., Kleber M., Bardeleben C., Goodstadt L., Heger A.,
RA   Hitte C., Kim L., Koepfli K.-P., Parker H.G., Pollinger J.P.,
RA   Searle S.M.J., Sutter N.B., Thomas R., Webber C., Baldwin J., Abebe A.,
RA   Abouelleil A., Aftuck L., Ait-Zahra M., Aldredge T., Allen N., An P.,
RA   Anderson S., Antoine C., Arachchi H., Aslam A., Ayotte L., Bachantsang P.,
RA   Barry A., Bayul T., Benamara M., Berlin A., Bessette D., Blitshteyn B.,
RA   Bloom T., Blye J., Boguslavskiy L., Bonnet C., Boukhgalter B., Brown A.,
RA   Cahill P., Calixte N., Camarata J., Cheshatsang Y., Chu J., Citroen M.,
RA   Collymore A., Cooke P., Dawoe T., Daza R., Decktor K., DeGray S.,
RA   Dhargay N., Dooley K., Dooley K., Dorje P., Dorjee K., Dorris L.,
RA   Duffey N., Dupes A., Egbiremolen O., Elong R., Falk J., Farina A., Faro S.,
RA   Ferguson D., Ferreira P., Fisher S., FitzGerald M., Foley K., Foley C.,
RA   Franke A., Friedrich D., Gage D., Garber M., Gearin G., Giannoukos G.,
RA   Goode T., Goyette A., Graham J., Grandbois E., Gyaltsen K., Hafez N.,
RA   Hagopian D., Hagos B., Hall J., Healy C., Hegarty R., Honan T., Horn A.,
RA   Houde N., Hughes L., Hunnicutt L., Husby M., Jester B., Jones C., Kamat A.,
RA   Kanga B., Kells C., Khazanovich D., Kieu A.C., Kisner P., Kumar M.,
RA   Lance K., Landers T., Lara M., Lee W., Leger J.-P., Lennon N., Leuper L.,
RA   LeVine S., Liu J., Liu X., Lokyitsang Y., Lokyitsang T., Lui A.,
RA   Macdonald J., Major J., Marabella R., Maru K., Matthews C., McDonough S.,
RA   Mehta T., Meldrim J., Melnikov A., Meneus L., Mihalev A., Mihova T.,
RA   Miller K., Mittelman R., Mlenga V., Mulrain L., Munson G., Navidi A.,
RA   Naylor J., Nguyen T., Nguyen N., Nguyen C., Nguyen T., Nicol R., Norbu N.,
RA   Norbu C., Novod N., Nyima T., Olandt P., O'Neill B., O'Neill K., Osman S.,
RA   Oyono L., Patti C., Perrin D., Phunkhang P., Pierre F., Priest M.,
RA   Rachupka A., Raghuraman S., Rameau R., Ray V., Raymond C., Rege F.,
RA   Rise C., Rogers J., Rogov P., Sahalie J., Settipalli S., Sharpe T.,
RA   Shea T., Sheehan M., Sherpa N., Shi J., Shih D., Sloan J., Smith C.,
RA   Sparrow T., Stalker J., Stange-Thomann N., Stavropoulos S., Stone C.,
RA   Stone S., Sykes S., Tchuinga P., Tenzing P., Tesfaye S., Thoulutsang D.,
RA   Thoulutsang Y., Topham K., Topping I., Tsamla T., Vassiliev H.,
RA   Venkataraman V., Vo A., Wangchuk T., Wangdi T., Weiand M., Wilkinson J.,
RA   Wilson A., Yadav S., Yang S., Yang X., Young G., Yu Q., Zainoun J.,
RA   Zembek L., Zimmer A., Lander E.S.;
RT   "Genome sequence, comparative analysis and haplotype structure of the
RT   domestic dog.";
RL   Nature 438:803-819(2005).
RN   [2]
RP   INVOLVEMENT IN PRIMARY CILIARY DYSKINESIA.
RC   STRAIN=Bobtails;
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).
RN   [3]
RP   INVOLVEMENT IN PRIMARY CILIARY DYSKINESIA.
RX   PubMed=24773602; DOI=10.1111/jvim.12336;
RA   Merveille A.C., Battaille G., Billen F., Deleuze S., Fredholm M.,
RA   Thomas A., Clercx C., Lequarre A.S.;
RT   "Clinical findings and prevalence of the mutation associated with primary
RT   ciliary dyskinesia in Old English Sheepdogs.";
RL   J. Vet. Intern. Med. 28:771-778(2014).
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}. Note=CCDC40 is required for
CC       localization to axonemes. {ECO:0000250|UniProtKB:Q9UFE4}.
CC   -!- DISEASE: Note=Defects in CCDC39 are a cause of a primary ciliary
CC       dyskinesia (PCD). PCD is characterized by recurrent respiratory
CC       infections and situs inversus. A spermogram showed oligoasthenospermia:
CC       the midpiece is narrowed in around one-third of sperm cells and the
CC       flagellum is shortened in around one-fifth.
CC       {ECO:0000269|PubMed:21131972, ECO:0000269|PubMed:24773602}.
CC   -!- SIMILARITY: Belongs to the CCDC39 family. {ECO:0000305}.
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DR   AlphaFoldDB; E2R1I5; -.
DR   SMR; E2R1I5; -.
DR   STRING; 9612.ENSCAFP00000016966; -.
DR   PaxDb; E2R1I5; -.
DR   PRIDE; E2R1I5; -.
DR   eggNOG; ENOG502QS0D; Eukaryota.
DR   InParanoid; E2R1I5; -.
DR   Proteomes; UP000002254; Unplaced.
DR   GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR   GO; GO:0005576; C:extracellular region; IEA:GOC.
DR   GO; GO:0003341; P:cilium movement; IBA:GO_Central.
DR   GO; GO:0060285; P:cilium-dependent cell motility; IMP:UniProtKB.
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   Phosphoprotein; Primary ciliary dyskinesia; Reference proteome.
FT   CHAIN           1..939
FT                   /note="Coiled-coil domain-containing protein 39"
FT                   /id="PRO_0000405816"
FT   REGION          776..796
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          867..892
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          912..939
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          16..124
FT                   /evidence="ECO:0000255"
FT   COILED          164..425
FT                   /evidence="ECO:0000255"
FT   COILED          457..512
FT                   /evidence="ECO:0000255"
FT   COILED          540..825
FT                   /evidence="ECO:0000255"
FT   MOD_RES         898
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q9D5Y1"
SQ   SEQUENCE   939 AA;  110367 MW;  FF5375C0410B0BB1 CRC64;
     MSSELLEELH WDDGFAIPVA NEENKMLEDQ LSKLQEERAS LQDQLRDYED RINAMTSHFK
     NVKQEFSFTQ SLCKAREHEI ESEEHFKIIA ERELGRIKDE IQRLENEMTS IREKKSDKEN
     NIFKTTQKLD GLKCQINWDQ QALEAWLEES AHKDSDALTL QKYAQQDDNK IRALTLQLER
     LTLECNQRRK VLDNELTETL SAQLELDKAA QDFRKIHNER QELIKQWENT IEQMRKRDRD
     IDNGALALAR IKQELREKEN LVKEKIKFLE SEIGNNTEYE KRISVADRKL LKCRTEYQHH
     ETNRNQLKDE LDSLKATVNR SSSDLEALRK NISKIKKDIQ EETARLQKIK NHNQSVKKKL
     KQITEKTMSV EEKATNLEDM LREEEKSVKE VEVQLNIVKD VLFKKVQELQ TEAMKEKAVV
     SEIEGTRSSL KHLNHQLHKL DFETLKQQEI MYSQDFYIQQ VERRMSRLKG EINSEEKQAL
     ETKIVELKKI LEEKKSTFDL LESQIKKLHN DLYFIKKSNS KNCDEKQFLM TKVNELNLFN
     DRSEKELNKT KALKQDLMIE DNLLKLEVKR TREMLHSKAE EVLSLEKRKQ QLHTAMEERM
     EEIKVHKTML ASQIRYIDQE RQNLSAEFHE RLSKIDKLKN RYEILTVVML PPEGEEEKTQ
     AYYVIKAAQE KEELQREGDS LDAKINKAEK EIYALENTLQ VLRSCNNNYK QSFQKITPSS
     DEYELKIQLE EQKRAIDEKY RYKQRQIREL QEDIQSMENT LEVIEHLTNN VKEKLSEKQA
     YSSQLNRETE EQRPKLERVT KQCAKLTKEI RLLKDTKDET LEEQDIKLRE VKHFHKIIDE
     MLAEVTEENA EIHIILQTYF QQNGLELPTA GTKGSRQSSR SPSQTSLLSA RSTTSVASQT
     SIKVLELNFP ASSSVTGNIS RPASATTIPS NGKNKKGSK