CEP41_DANRE
ID CEP41_DANRE Reviewed; 374 AA.
AC Q6GQN0;
DT 21-MAR-2012, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Centrosomal protein of 41 kDa;
DE Short=Cep41;
DE AltName: Full=Testis-specific gene A14 protein;
GN Name=cep41; Synonyms=tsga14; ORFNames=zgc:91859;
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].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP FUNCTION, DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
RX PubMed=22246503; DOI=10.1038/ng.1078;
RA Lee J.E., Silhavy J.L., Zaki M.S., Schroth J., Bielas S.L., Marsh S.E.,
RA Olvera J., Brancati F., Iannicelli M., Ikegami K., Schlossman A.M.,
RA Merriman B., Attie-Bitach T., Logan C.V., Glass I.A., Cluckey A.,
RA Louie C.M., Lee J.H., Raynes H.R., Rapin I., Castroviejo I.P., Setou M.,
RA Barbot C., Boltshauser E., Nelson S.F., Hildebrandt F., Johnson C.A.,
RA Doherty D.A., Valente E.M., Gleeson J.G.;
RT "CEP41 is mutated in Joubert syndrome and is required for tubulin
RT glutamylation at the cilium.";
RL Nat. Genet. 44:193-199(2012).
CC -!- FUNCTION: Required during ciliogenesis for tubulin glutamylation in
CC cilium. Probably acts by participating in the transport of tubulin
CC polyglutamylases between the basal body and the cilium.
CC {ECO:0000269|PubMed:22246503}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000250}. Cell projection, cilium
CC {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250}. Note=Localizes mainly to the cilium basal body and in
CC primary cilia. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in various ciliary organs, including
CC Kupffer's vesicle, ear and heart, as well as brain and kidney.
CC {ECO:0000269|PubMed:22246503}.
CC -!- DISRUPTION PHENOTYPE: Embryos display peripheral heart edema and tail
CC defects along with ciliopathy-related phenotypes, including
CC hydrocephalus, abnormal ear otolith formation and smaller eyes.
CC {ECO:0000269|PubMed:22246503}.
CC -!- SIMILARITY: Belongs to the CEP41 family. {ECO:0000305}.
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DR EMBL; CT033837; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC072712; AAH72712.1; -; mRNA.
DR RefSeq; NP_001002194.1; NM_001002194.1.
DR AlphaFoldDB; Q6GQN0; -.
DR SMR; Q6GQN0; -.
DR STRING; 7955.ENSDARP00000056179; -.
DR PaxDb; Q6GQN0; -.
DR PRIDE; Q6GQN0; -.
DR Ensembl; ENSDART00000056180; ENSDARP00000056179; ENSDARG00000038500.
DR Ensembl; ENSDART00000178154; ENSDARP00000144297; ENSDARG00000117114.
DR GeneID; 431741; -.
DR KEGG; dre:431741; -.
DR CTD; 95681; -.
DR ZFIN; ZDB-GENE-040704-35; cep41.
DR eggNOG; ENOG502QR8A; Eukaryota.
DR GeneTree; ENSGT00390000002222; -.
DR HOGENOM; CLU_064316_0_0_1; -.
DR InParanoid; Q6GQN0; -.
DR OMA; DRCHIIS; -.
DR OrthoDB; 1216222at2759; -.
DR PhylomeDB; Q6GQN0; -.
DR TreeFam; TF324682; -.
DR Reactome; R-DRE-2565942; Regulation of PLK1 Activity at G2/M Transition.
DR Reactome; R-DRE-380259; Loss of Nlp from mitotic centrosomes.
DR Reactome; R-DRE-380270; Recruitment of mitotic centrosome proteins and complexes.
DR Reactome; R-DRE-380284; Loss of proteins required for interphase microtubule organization from the centrosome.
DR Reactome; R-DRE-380320; Recruitment of NuMA to mitotic centrosomes.
DR Reactome; R-DRE-5620912; Anchoring of the basal body to the plasma membrane.
DR Reactome; R-DRE-8854518; AURKA Activation by TPX2.
DR PRO; PR:Q6GQN0; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 25.
DR Bgee; ENSDARG00000038500; Expressed in testis and 20 other tissues.
DR GO; GO:0005814; C:centriole; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0070740; F:tubulin-glutamic acid ligase activity; IMP:ZFIN.
DR GO; GO:0035082; P:axoneme assembly; IMP:ZFIN.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0001755; P:neural crest cell migration; IMP:ZFIN.
DR GO; GO:0018095; P:protein polyglutamylation; IMP:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR Gene3D; 3.40.250.10; -; 1.
DR InterPro; IPR001763; Rhodanese-like_dom.
DR InterPro; IPR036873; Rhodanese-like_dom_sf.
DR Pfam; PF00581; Rhodanese; 1.
DR SMART; SM00450; RHOD; 1.
DR SUPFAM; SSF52821; SSF52821; 1.
DR PROSITE; PS50206; RHODANESE_3; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Ciliopathy; Cilium; Cilium biogenesis/degradation;
KW Cytoplasm; Cytoskeleton; Protein transport; Reference proteome; Transport.
FT CHAIN 1..374
FT /note="Centrosomal protein of 41 kDa"
FT /id="PRO_0000416267"
FT DOMAIN 176..273
FT /note="Rhodanese"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00173"
FT REGION 279..301
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 329..374
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 374 AA; 41425 MW; FBA84A595EA86273 CRC64;
MSVKRGIGDS AFLKKKIPQN PKYQHVKTRL DTGSSLTKYM ERLEEARKNY RYRKDELFKR
LKVTTFAQLV IQVASVSDQN DNIKDEMAGL EDDVSIFSAS PGLDCLSDQT NGSPQPNLPP
PQTINIDESG DNGFSPRSTL QSVISGVGEL DLDKNGQKTI RLSPVSTSNT TECPYPDCPY
LLLDVRDREL YDQCHIVSAY SYPIATLSRT MNPYTKEVLD YKNASGKIII VYDEDERIAS
QAATTMCERG FENLFMLSGG LKVVAQKFPE GMTTGSVPIS CLPSPTGPAG RKRSAQHQTS
QLAEKKWRFT AEDLDKIQHY LEEVFIPSET SSRLSSRMST SSARSKASTV GSSRQGSSIA
GSESARSRSS RPWK
