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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
 
 
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