CEP55_DANRE
ID CEP55_DANRE Reviewed; 435 AA.
AC Q502I3;
DT 22-NOV-2017, integrated into UniProtKB/Swiss-Prot.
DT 07-JUN-2005, sequence version 1.
DT 03-AUG-2022, entry version 104.
DE RecName: Full=Centrosomal protein of 55 kDa {ECO:0000250|UniProtKB:Q53EZ4};
DE AltName: Full=Centrosomal protein 55-like;
GN Name=cep55 {ECO:0000250|UniProtKB:Q53EZ4}; Synonyms=cep55l, zgc:112184;
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 {ECO:0000312|EMBL:AAH95686.1};
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].
RC TISSUE=Embryo;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=28264986; DOI=10.1136/jmedgenet-2016-104296;
RG FORGE Canada Consortium;
RG Canadian Rare Diseases: Models & Mechanisms Network,;
RA Frosk P., Arts H.H., Philippe J., Gunn C.S., Brown E.L., Chodirker B.,
RA Simard L., Majewski J., Fahiminiya S., Russell C., Liu Y.P., Hegele R.,
RA Katsanis N., Goerz C., Del Bigio M.R., Davis E.E.;
RT "A truncating mutation in CEP55 is the likely cause of MARCH, a novel
RT syndrome affecting neuronal mitosis.";
RL J. Med. Genet. 54:490-501(2017).
CC -!- FUNCTION: Plays a role in mitotic exit and cytokinesis. Recruits
CC PDCD6IP and TSG101 to midbody during cytokinesis. Required for
CC successful completion of cytokinesis. Not required for microtubule
CC nucleation (By similarity). Plays a role in the development of the
CC brain and kidney (PubMed:28264986). {ECO:0000250|UniProtKB:Q53EZ4,
CC ECO:0000269|PubMed:28264986}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q53EZ4}.
CC Cytoplasm, cytoskeleton, microtubule organizing center, centrosome,
CC centriole {ECO:0000250|UniProtKB:Q53EZ4}. Cytoplasm, cytoskeleton,
CC microtubule organizing center, centrosome
CC {ECO:0000250|UniProtKB:Q53EZ4}. Cleavage furrow
CC {ECO:0000250|UniProtKB:Q53EZ4}. Midbody, Midbody ring
CC {ECO:0000250|UniProtKB:Q53EZ4}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein increases jaw
CC cartilage disorganization, decreases the size of brain structures and
CC the lateral area and convolution of proximal renal tubules at 4 days
CC post-fertilization (dpf) (PubMed:28264986). Embryos with CRISPR-induced
CC cep55l null mutations display altered craniofacial patterning and
CC atrophy of the proximal renal tubules (PubMed:28264986).
CC {ECO:0000269|PubMed:28264986}.
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DR EMBL; AL929469; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CT033834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU459019; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU459121; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU459209; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU463858; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC095686; AAH95686.1; -; mRNA.
DR RefSeq; NP_001018598.1; NM_001020762.1.
DR AlphaFoldDB; Q502I3; -.
DR SMR; Q502I3; -.
DR STRING; 7955.ENSDARP00000048255; -.
DR PaxDb; Q502I3; -.
DR Ensembl; ENSDART00000166600; ENSDARP00000136406; ENSDARG00000102349.
DR GeneID; 553800; -.
DR KEGG; dre:553800; -.
DR CTD; 553800; -.
DR ZFIN; ZDB-GENE-050522-222; cep55l.
DR eggNOG; ENOG502QTDI; Eukaryota.
DR GeneTree; ENSGT00510000047961; -.
DR HOGENOM; CLU_047132_0_0_1; -.
DR InParanoid; Q502I3; -.
DR OMA; KHSSCLD; -.
DR OrthoDB; 850483at2759; -.
DR PhylomeDB; Q502I3; -.
DR TreeFam; TF331107; -.
DR PRO; PR:Q502I3; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 12.
DR Bgee; ENSDARG00000102349; Expressed in testis and 29 other tissues.
DR GO; GO:0005814; C:centriole; IEA:UniProtKB-SubCell.
DR GO; GO:0032154; C:cleavage furrow; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0090543; C:Flemming body; IEA:UniProtKB-SubCell.
DR GO; GO:0030496; C:midbody; IBA:GO_Central.
DR GO; GO:0021549; P:cerebellum development; IMP:ZFIN.
DR GO; GO:1904888; P:cranial skeletal system development; IMP:ZFIN.
DR GO; GO:0045184; P:establishment of protein localization; IBA:GO_Central.
DR GO; GO:0000281; P:mitotic cytokinesis; IBA:GO_Central.
DR GO; GO:0014066; P:regulation of phosphatidylinositol 3-kinase signaling; IMP:ZFIN.
DR GO; GO:0051896; P:regulation of protein kinase B signaling; IMP:ZFIN.
DR InterPro; IPR038926; CEP55.
DR InterPro; IPR022008; EABR.
DR PANTHER; PTHR31838; PTHR31838; 1.
DR Pfam; PF12180; EABR; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Cytoplasm; Cytoskeleton; Developmental protein;
KW Reference proteome.
FT CHAIN 1..435
FT /note="Centrosomal protein of 55 kDa"
FT /id="PRO_0000442364"
FT REGION 1..63
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 213..239
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 268..287
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 18..140
FT /evidence="ECO:0000255"
FT COILED 185..373
FT /evidence="ECO:0000255"
FT COMPBIAS 27..63
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 435 AA; 50949 MW; C2B7C4B7B7E53875 CRC64;
MAAKGAKETL VNKLGFKSSS SSSKSAELEV EKLKRENQQM KKSLEDMKRA GRHQHTHPDT
DKARLLERIL ALETLREKNN QQLLGREQEI TTLRQQLRSA HGEVVSSLQS QLENKQHEAE
QRERQYQALV KETEDLKNKY CAVSERCDTL EKQKGSSGEL AVVQEQLRDA LEKNQHWLVY
DQQREAYVQG VLARIKDLEA QLNEANQALQ QQHKEAKSDD QSAQKVQQEL EAERNKVSRM
QMEVEDLQVR YEEKSREAAQ AREQLLEERR REREDRKSSV ERDALLQDQH RKREAELIMQ
VNLLQKSLMN QKEEQKRMAI LEQQIQLSAK ESENEKLDRQ TLQHQLHKVL KELRKARDQI
TRLESSKQQR ESRFSEPSSY NRMDLERLTI QDHMTSPSKV HNILDESVLE CPNCGASYPT
SQHRELLAHL DYCFT