CCD40_DANRE
ID CCD40_DANRE Reviewed; 941 AA.
AC Q56A40;
DT 08-MAR-2011, integrated into UniProtKB/Swiss-Prot.
DT 08-MAR-2011, sequence version 2.
DT 03-AUG-2022, entry version 84.
DE RecName: Full=Coiled-coil domain-containing protein 40 {ECO:0000305};
DE AltName: Full=Protein locke {ECO:0000303|PubMed:21131972};
GN Name=ccdc40; Synonyms=lok {ECO:0000303|PubMed:21131972};
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] OF 337-941.
RC TISSUE=Embryo;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
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 ccdc39 to form a molecular
CC ruler that determines the 96 nanometer (nm) repeat length and
CC arrangements of components in cilia and flagella.
CC {ECO:0000250|UniProtKB:A8IQT2, ECO:0000250|UniProtKB:Q4G0X9}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BI79}. Cell
CC projection, cilium {ECO:0000250|UniProtKB:Q8BI79}. Note=Localizes to
CC cytoplasm and motile cilium. {ECO:0000250|UniProtKB:Q8BI79}.
CC -!- TISSUE SPECIFICITY: Expressed in tissues that contain motile cilia,
CC including Kupffer's vesicle, the floorplate, the pronephric tubules and
CC the otic vesicle. {ECO:0000269|PubMed:21131972}.
CC -!- DISRUPTION PHENOTYPE: Defects are the cause of the lok phenotype, a
CC phenotype related to primary ciliary dyskinesia (PCD). PCD is
CC characterized by curly-tail down phenotype, laterality defects and
CC pronephric cysts, but without defects in sensory cilia and without the
CC presence of hydrocephalus. {ECO:0000269|PubMed:21131972}.
CC -!- SIMILARITY: Belongs to the CCDC40 family. {ECO:0000305}.
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DR EMBL; BX005286; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR854963; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC092181; AAH92181.1; -; mRNA.
DR RefSeq; NP_001258742.1; NM_001271813.1.
DR AlphaFoldDB; Q56A40; -.
DR SMR; Q56A40; -.
DR STRING; 7955.ENSDARP00000121686; -.
DR PaxDb; Q56A40; -.
DR Ensembl; ENSDART00000169752; ENSDARP00000139124; ENSDARG00000100584.
DR GeneID; 568590; -.
DR KEGG; dre:568590; -.
DR CTD; 55036; -.
DR ZFIN; ZDB-GENE-060503-723; ccdc40.
DR eggNOG; ENOG502QQ91; Eukaryota.
DR GeneTree; ENSGT00440000035688; -.
DR HOGENOM; CLU_008826_1_0_1; -.
DR InParanoid; Q56A40; -.
DR OMA; IHKMEMR; -.
DR OrthoDB; 323186at2759; -.
DR PhylomeDB; Q56A40; -.
DR TreeFam; TF325559; -.
DR PRO; PR:Q56A40; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 6.
DR Bgee; ENSDARG00000100584; Expressed in testis and 24 other tissues.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; 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:0035082; P:axoneme assembly; IMP:ZFIN.
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:0003143; P:embryonic heart tube morphogenesis; IMP:ZFIN.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IMP:UniProtKB.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IMP:ZFIN.
DR GO; GO:0003146; P:heart jogging; IMP:ZFIN.
DR GO; GO:0001947; P:heart looping; IMP:ZFIN.
DR GO; GO:0048793; P:pronephros development; IMP:ZFIN.
DR InterPro; IPR037386; CCDC40.
DR PANTHER; PTHR16275; PTHR16275; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Ciliopathy; Cilium; Coiled coil; Cytoplasm;
KW Primary ciliary dyskinesia; Reference proteome.
FT CHAIN 1..941
FT /note="Coiled-coil domain-containing protein 40"
FT /id="PRO_0000405821"
FT REGION 1..31
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 130..154
FT /evidence="ECO:0000255"
FT COILED 210..430
FT /evidence="ECO:0000255"
FT COILED 548..572
FT /evidence="ECO:0000255"
FT COILED 609..765
FT /evidence="ECO:0000255"
FT COILED 814..856
FT /evidence="ECO:0000255"
FT COILED 895..915
FT /evidence="ECO:0000255"
FT COMPBIAS 1..30
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 337
FT /note="I -> G (in Ref. 2; AAH92181)"
FT /evidence="ECO:0000305"
FT CONFLICT 466
FT /note="F -> L (in Ref. 2; AAH92181)"
FT /evidence="ECO:0000305"
FT CONFLICT 730
FT /note="R -> Q (in Ref. 2; AAH92181)"
FT /evidence="ECO:0000305"
FT CONFLICT 765
FT /note="K -> E (in Ref. 2; AAH92181)"
FT /evidence="ECO:0000305"
FT CONFLICT 780
FT /note="H -> Q (in Ref. 2; AAH92181)"
FT /evidence="ECO:0000305"
FT CONFLICT 854
FT /note="I -> T (in Ref. 2; AAH92181)"
FT /evidence="ECO:0000305"
FT CONFLICT 882
FT /note="P -> A (in Ref. 2; AAH92181)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 941 AA; 109492 MW; 197773239C344FEC CRC64;
MEGRQEDQMN RQEEVEQSNN YDRSVDHART GRSSWIDNSE INSKWIPQHS LQLEMNNIEG
EGSVRENDEE EEEIVVLDPE HPLMKRFQTA LKNNFTNQLE RLNLDLCEKV VVEKAEAQRR
HDLAEEVYMV QEMLARLQAS LEVCQETNSE AAAQHRQAED HLYVVKNQYQ DTASQTNVQR
LQVLELQSKV DNLALKLLYM QEAKSDLCSD IKAIINASNK AQKERTQTEE QKHQQDIYVE
RLTNRVEKLL EQISLYDLQL ISQTEQTRAA KDSLSEAQLE LDSVIVEHRQ LLQQWKSSLL
MMKRRDEAYT AMQEELRQAN DQMLSLDTEI ESYKKSITQE EEQNECLTLR LNRGQTDCTT
SRKLITHSQN LQEVLQAQLS TYTRILQETE NTLSTLHGNL EMHQSALKAL RKQMEKVSAV
RLDLESQIMN KLQEQLTHNN AAKYSRRMND KTAVYRREKE AQLIKFENDF NTVTLEGQEL
ATHLDSLLAF QAELEQKSTQ RHLLLSSREE EIVKQITDIE RKQATISIYN KKIKDIVSST
GHEDLGPLEI HAATLSKELE EVGAKIKECQ QLWLWQQGEL VRFTQEKQAH SSSVQILQTQ
LTILQQGKIR RESEMEQDQS ELADLDKQIK VLMADMVKLN SLLNKNSDLN HALQQSSNLM
ETEFRQRLKE AEKDSAETQL KLERLNEEKE RLINSLVEAE RQVMLWGKRT QLMQETCSAI
DSDIGQGDIR TMRAEIHRME VRYAQLMKQQ ERLLRDMESV VAKSKTIAVW SEAQARTQAH
KQPTHNDYHN TIQSLRRKIL QTKKQTEECD GVIAQLEERL GSMTSRLQDK QMHLNNIQNT
EAFLSQDLRR LQEIKERNLY RLPVLQTRAK HLHAVKEGRY TPMATGVTAL ELGTHKQEER
LKMVSLTLQR LAQEYPQHHS TLHRMNSILA EHLHGECPNS Q
