CCD32_DANRE
ID CCD32_DANRE Reviewed; 182 AA.
AC X1WGV5;
DT 29-SEP-2021, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 1.
DT 03-AUG-2022, entry version 39.
DE RecName: Full=Coiled-coil domain-containing protein 32 {ECO:0000312|ZFIN:ZDB-GENE-131127-581};
GN Name=ccdc32 {ECO:0000312|ZFIN:ZDB-GENE-131127-581};
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 FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=32307552; DOI=10.1093/hmg/ddaa073;
RA Harel T., Griffin J.N., Arbogast T., Monroe T.O., Palombo F.,
RA Martinelli M., Seri M., Pippucci T., Elpeleg O., Katsanis N.;
RT "Loss of function mutations in CCDC32 cause a congenital syndrome
RT characterized by craniofacial, cardiac and neurodevelopmental anomalies.";
RL Hum. Mol. Genet. 29:1489-1497(2020).
CC -!- FUNCTION: Has a role in ciliogenesis and is required for proper
CC cephalic and left/right axis development.
CC {ECO:0000269|PubMed:32307552}.
CC -!- DISRUPTION PHENOTYPE: Depletion of ccdc32 using CRISPR-Cas9-mediated
CC gene editing results in disrupted cardiac looping in embryos at 2 dpf,
CC reduced number and length of cilia in Kupffer's vesicle, and in a
CC significant reduction of head size at 3 dpf. Furthermore, ccdc32
CC crispants exhibit significant alterations in facial skeletal morphology
CC and have hypoplastic cerebella. {ECO:0000269|PubMed:32307552}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; BX649281; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_001185682.1; NM_001198753.1.
DR AlphaFoldDB; X1WGV5; -.
DR STRING; 7955.ENSDARP00000102439; -.
DR PaxDb; X1WGV5; -.
DR Ensembl; ENSDART00000155580; ENSDARP00000129464; ENSDARG00000073962.
DR GeneID; 564862; -.
DR KEGG; dre:564862; -.
DR CTD; 90416; -.
DR ZFIN; ZDB-GENE-131127-581; ccdc32.
DR eggNOG; KOG4106; Eukaryota.
DR GeneTree; ENSGT00390000014780; -.
DR HOGENOM; CLU_119111_0_0_1; -.
DR OMA; ALKPWAP; -.
DR OrthoDB; 1421909at2759; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 17.
DR Bgee; ENSDARG00000073962; Expressed in brain and 21 other tissues.
DR GO; GO:0044782; P:cilium organization; IMP:UniProtKB.
DR GO; GO:0060322; P:head development; IMP:UniProtKB.
DR InterPro; IPR028039; CCDC32.
DR PANTHER; PTHR31800; PTHR31800; 1.
DR Pfam; PF14989; CCDC32; 1.
PE 4: Predicted;
KW Cilium biogenesis/degradation; Reference proteome.
FT CHAIN 1..182
FT /note="Coiled-coil domain-containing protein 32"
FT /id="PRO_0000453674"
FT REGION 1..61
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 153..182
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 153..167
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 168..182
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 182 AA; 20615 MW; 0BB75270487FBC3A CRC64;
MMIDDFETHA ARSSGDLWSE VCSSLPEPRE QHGGQFTDSF EPSSPGDPHT DSPRAANFSP
WEPMADSEVY IAGLENRLKR IKGQTSEVTS REMLRSLSQA KKECWDRFLH DAQTSELFQE
GNFDQSALEQ FKRWLSPERV AINAEELEYL LLPTQNSETP ASSSQTDKPC VEEEEECPSP
EK
