CEP78_MOUSE
ID CEP78_MOUSE Reviewed; 790 AA.
AC Q6IRU7;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Centrosomal protein of 78 kDa;
DE Short=Cep78;
GN Name=Cep78;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP DEVELOPMENTAL STAGE.
RX PubMed=27588451; DOI=10.1016/j.ajhg.2016.07.009;
RA Nikopoulos K., Farinelli P., Giangreco B., Tsika C., Royer-Bertrand B.,
RA Mbefo M.K., Bedoni N., Kjellstroem U., El Zaoui I., Di Gioia S.A.,
RA Balzano S., Cisarova K., Messina A., Decembrini S., Plainis S.,
RA Blazaki S.V., Khan M.I., Micheal S., Boldt K., Ueffing M., Moulin A.P.,
RA Cremers F.P., Roepman R., Arsenijevic Y., Tsilimbaris M.K., Andreasson S.,
RA Rivolta C.;
RT "Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated
RT with primary-cilia defects.";
RL Am. J. Hum. Genet. 99:770-776(2016).
RN [3]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=27588452; DOI=10.1016/j.ajhg.2016.07.010;
RA Namburi P., Ratnapriya R., Khateb S., Lazar C.H., Kinarty Y., Obolensky A.,
RA Erdinest I., Marks-Ohana D., Pras E., Ben-Yosef T., Newman H., Gross M.,
RA Swaroop A., Banin E., Sharon D.;
RT "Bi-allelic truncating mutations in CEP78, encoding centrosomal protein 78,
RT cause cone-rod degeneration with sensorineural hearing loss.";
RL Am. J. Hum. Genet. 99:777-784(2016).
CC -!- FUNCTION: May be required for efficient PLK4 centrosomal localization
CC and PLK4-induced overduplication of centrioles. May play a role in
CC cilium biogenesis. {ECO:0000250|UniProtKB:Q5JTW2}.
CC -!- SUBUNIT: Interacts with PLK4. Interacts with FAM161A.
CC {ECO:0000250|UniProtKB:Q5JTW2}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000250|UniProtKB:Q5JTW2}. Cytoplasm,
CC cytoskeleton, microtubule organizing center, centrosome, centriole
CC {ECO:0000250|UniProtKB:Q5JTW2}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000250|UniProtKB:Q5JTW2}. Note=Mainly localizes at the
CC centriolar wall, but also found in the pericentriolar material.
CC Expressed in photoreceptor inner segment.
CC {ECO:0000269|PubMed:27588452}.
CC -!- TISSUE SPECIFICITY: Expressed by photoreceptor cells in the retina.
CC {ECO:0000269|PubMed:27588452}.
CC -!- DEVELOPMENTAL STAGE: Expressed at all stages of development with higher
CC expression during embryogenesis. {ECO:0000269|PubMed:27588451,
CC ECO:0000269|PubMed:27588452}.
CC -!- SIMILARITY: Belongs to the CEP78 family. {ECO:0000305}.
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DR EMBL; BC070400; AAH70400.1; -; mRNA.
DR CCDS; CCDS29682.1; -.
DR RefSeq; NP_932136.2; NM_198019.2.
DR AlphaFoldDB; Q6IRU7; -.
DR SMR; Q6IRU7; -.
DR BioGRID; 228987; 36.
DR IntAct; Q6IRU7; 35.
DR STRING; 10090.ENSMUSP00000037596; -.
DR iPTMnet; Q6IRU7; -.
DR PhosphoSitePlus; Q6IRU7; -.
DR EPD; Q6IRU7; -.
DR MaxQB; Q6IRU7; -.
DR PaxDb; Q6IRU7; -.
DR PeptideAtlas; Q6IRU7; -.
DR PRIDE; Q6IRU7; -.
DR ProteomicsDB; 280003; -.
DR Antibodypedia; 27392; 88 antibodies from 21 providers.
DR DNASU; 208518; -.
DR Ensembl; ENSMUST00000047704; ENSMUSP00000037596; ENSMUSG00000041491.
DR GeneID; 208518; -.
DR KEGG; mmu:208518; -.
DR UCSC; uc008gwq.1; mouse.
DR CTD; 84131; -.
DR MGI; MGI:1924386; Cep78.
DR VEuPathDB; HostDB:ENSMUSG00000041491; -.
DR eggNOG; KOG4308; Eukaryota.
DR GeneTree; ENSGT00390000013287; -.
DR HOGENOM; CLU_021273_0_0_1; -.
DR InParanoid; Q6IRU7; -.
DR OMA; MTLKLCK; -.
DR OrthoDB; 982225at2759; -.
DR PhylomeDB; Q6IRU7; -.
DR TreeFam; TF328928; -.
DR Reactome; R-MMU-2565942; Regulation of PLK1 Activity at G2/M Transition.
DR Reactome; R-MMU-380259; Loss of Nlp from mitotic centrosomes.
DR Reactome; R-MMU-380270; Recruitment of mitotic centrosome proteins and complexes.
DR Reactome; R-MMU-380284; Loss of proteins required for interphase microtubule organization from the centrosome.
DR Reactome; R-MMU-380320; Recruitment of NuMA to mitotic centrosomes.
DR Reactome; R-MMU-5620912; Anchoring of the basal body to the plasma membrane.
DR Reactome; R-MMU-8854518; AURKA Activation by TPX2.
DR BioGRID-ORCS; 208518; 4 hits in 71 CRISPR screens.
DR ChiTaRS; Cep78; mouse.
DR PRO; PR:Q6IRU7; -.
DR Proteomes; UP000000589; Chromosome 19.
DR RNAct; Q6IRU7; protein.
DR Bgee; ENSMUSG00000041491; Expressed in spermatocyte and 183 other tissues.
DR ExpressionAtlas; Q6IRU7; baseline and differential.
DR Genevisible; Q6IRU7; MM.
DR GO; GO:0005814; C:centriole; ISO:MGI.
DR GO; GO:0005813; C:centrosome; ISO:MGI.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0044782; P:cilium organization; ISS:UniProtKB.
DR Gene3D; 3.80.10.10; -; 2.
DR InterPro; IPR026212; Cep78.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13516; LRR_6; 3.
DR PRINTS; PR02062; CENTROSOME78.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Coiled coil;
KW Cytoplasm; Cytoskeleton; Phosphoprotein; Reference proteome.
FT CHAIN 1..790
FT /note="Centrosomal protein of 78 kDa"
FT /id="PRO_0000291953"
FT REGION 325..345
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 362..385
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 428..462
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 654..732
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 756..790
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 455..510
FT /evidence="ECO:0000255"
FT COMPBIAS 695..711
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 762..790
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 330
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5JTW2"
FT MOD_RES 332
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5JTW2"
SQ SEQUENCE 790 AA; 86890 MW; 3A6A098B010B6869 CRC64;
MIDSVKLRRD CAADFFSHYE YLCALQDSVP LPAVRACLRD GVLDFNADRL RAVDWAPLLS
TLRVNRDLPL VAIKSSFQPW LGETVLRSGG ADTHRICRNR VPAVRSKDIS FQLCKALRGC
LSVSGVLRNL ELNGLILRER DLTSLTKGLS KSTSLVHLSL ANCPIGDGGL EIICQGIKNS
VTLKTVNFTG CNLTWQGACH MAKILKYQTM RRHEETWAES LRYRRPDLDC MAGLRRITLN
CNTLIGDQGA SAFADSLSED LWLRALDLQQ CGLTSEGAKA LLEALETNRT LVVLDIRKNP
LIDHSMMKAV IKKVLQNGRS ADSEYQWVTS PSSKEPSKTA KQRKKTIVLG SSRKGKATIR
IGLATKKPSS NGRKQGLGKD CYAPNPLPPG ASGFLPWRTA ERAKRSRSSS LIKTRDLSNH
LKKSDFPVTV TVESPSSSET DETEDSSESV QEAPQKTSIK EETLQEKLEE CLRQLKEERV
IRLKADKRVS ELEHENAQLR NINFSLSEAL HAQSLTNMIL DDEGVLGSIE NSFQKFHAFL
DLLKDAGLGQ LATMAGIDQS DFHLLGRPQM NSTVNTPIQE QKALEDETLH PKQTATGQMQ
DIRFQKITSD ALIPLPLNTV QDPASAQEAV GASRDHLGVV GLEQQEGSAA GFIAKTGSPL
AGGIPGGRSQ REEEVLSKHS RSSSEKGSTA SEPSRRPSAE RHPRKDLLSD ADPPGNSESK
GPGDRRSLLN EPIKSESLKK CISIKKENRI VTVSSKTIKS KPNLLEHSES DTLGSDFELQ
ERVHSSAHLT
