ID   CEP19_MOUSE             Reviewed;         163 AA.
AC   Q9CQA8;
DT   03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2001, sequence version 1.
DT   03-AUG-2022, entry version 110.
DE   RecName: Full=Centrosomal protein of 19 kDa;
DE            Short=Cep19;
GN   Name=Cep19;
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=Cerebellum, and Pancreas;
RX   PubMed=16141072; DOI=10.1126/science.1112014;
RA   Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA   Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA   Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA   Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA   Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA   Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA   Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA   Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA   Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA   Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA   Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA   Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA   Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA   Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA   Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA   Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA   Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA   Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA   Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA   Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA   Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA   Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA   Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA   Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA   Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA   van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA   Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA   Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA   Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA   Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA   Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA   Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA   Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA   Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT   "The transcriptional landscape of the mammalian genome.";
RL   Science 309:1559-1563(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   STRAIN=FVB/N; TISSUE=Mammary cancer;
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   [3]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=24268657; DOI=10.1016/j.ajhg.2013.10.025;
RA   Shalata A., Ramirez M.C., Desnick R.J., Priedigkeit N., Buettner C.,
RA   Lindtner C., Mahroum M., Abdul-Ghani M., Dong F., Arar N.,
RA   Camacho-Vanegas O., Zhang R., Camacho S.C., Chen Y., Ibdah M., DeFronzo R.,
RA   Gillespie V., Kelley K., Dynlacht B.D., Kim S., Glucksman M.J.,
RA   Borochowitz Z.U., Martignetti J.A.;
RT   "Morbid obesity resulting from inactivation of the ciliary protein CEP19 in
RT   humans and mice.";
RL   Am. J. Hum. Genet. 93:1061-1071(2013).
CC   -!- FUNCTION: Required for ciliation. Recruits the RABL2B GTPase to the
CC       ciliary base to initiate ciliation. After specifically capturing the
CC       activated GTP-bound RABL2B, the CEP19-RABL2B complex binds
CC       intraflagellar transport (IFT) complex B from the large pool pre-docked
CC       at the base of the cilium and thus triggers its entry into the cilia.
CC       Involved in the early steps in cilia formation by recruiting the
CC       ciliary vesicles (CVs) to the distal end of the mother centriole where
CC       they fuse to initiate cilium assembly. Involved in microtubule (MT)
CC       anchoring at centrosomes. {ECO:0000250|UniProtKB:Q96LK0}.
CC   -!- SUBUNIT: Interacts with CEP43; this interaction is required for its
CC       localization to the mother centriole. Interacts (via residues 121-150)
CC       with RABL2B. Interacts (via C-terminus) with CEP350; this interaction
CC       is required for its localization to the mother centriole.
CC       {ECO:0000250|UniProtKB:Q96LK0}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC       center, centrosome, centriole {ECO:0000250|UniProtKB:Q96LK0}.
CC       Cytoplasm, cytoskeleton, spindle pole {ECO:0000250|UniProtKB:Q96LK0}.
CC       Cytoplasm, cytoskeleton, cilium basal body
CC       {ECO:0000250|UniProtKB:Q96LK0}. Note=Associates with the mother
CC       centriole in early interphase. Localizes to spindle poles during
CC       mitosis, and to distinct foci oriented towards the midbody at
CC       telophase. Localizes slightly apical to the subdistal appendage on the
CC       mother centriole, but below the distal appendage.
CC       {ECO:0000250|UniProtKB:Q96LK0}.
CC   -!- DISRUPTION PHENOTYPE: Severe obesity, hyperphagia, decreased energy
CC       expenditure, impaired whole-body fat oxidation, altered hepatic insulin
CC       signaling, and impaired glucose and insulin tolerance. Spermatogenic
CC       cells and seminiferous tubules show marked degeneration.
CC       {ECO:0000269|PubMed:24268657}.
CC   -!- SIMILARITY: Belongs to the CEP19 family. {ECO:0000305}.
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DR   EMBL; AK005324; BAB23954.1; -; mRNA.
DR   EMBL; AK007713; BAB25206.1; -; mRNA.
DR   EMBL; BC023715; AAH23715.1; -; mRNA.
DR   CCDS; CCDS28114.1; -.
DR   RefSeq; NP_080168.1; NM_025892.2.
DR   AlphaFoldDB; Q9CQA8; -.
DR   SMR; Q9CQA8; -.
DR   BioGRID; 211861; 1.
DR   STRING; 10090.ENSMUSP00000110822; -.
DR   iPTMnet; Q9CQA8; -.
DR   PhosphoSitePlus; Q9CQA8; -.
DR   EPD; Q9CQA8; -.
DR   PaxDb; Q9CQA8; -.
DR   PRIDE; Q9CQA8; -.
DR   ProteomicsDB; 281376; -.
DR   Antibodypedia; 33949; 69 antibodies from 18 providers.
DR   Ensembl; ENSMUST00000042869; ENSMUSP00000046587; ENSMUSG00000035790.
DR   Ensembl; ENSMUST00000115168; ENSMUSP00000110822; ENSMUSG00000035790.
DR   Ensembl; ENSMUST00000169186; ENSMUSP00000126083; ENSMUSG00000035790.
DR   GeneID; 66994; -.
DR   KEGG; mmu:66994; -.
DR   UCSC; uc007yyf.1; mouse.
DR   CTD; 84984; -.
DR   MGI; MGI:1914244; Cep19.
DR   VEuPathDB; HostDB:ENSMUSG00000035790; -.
DR   eggNOG; ENOG502RZP1; Eukaryota.
DR   GeneTree; ENSGT00390000016356; -.
DR   HOGENOM; CLU_113348_0_0_1; -.
DR   InParanoid; Q9CQA8; -.
DR   OMA; QEKCSWD; -.
DR   OrthoDB; 1594443at2759; -.
DR   PhylomeDB; Q9CQA8; -.
DR   TreeFam; TF328425; -.
DR   BioGRID-ORCS; 66994; 6 hits in 73 CRISPR screens.
DR   ChiTaRS; Cep19; mouse.
DR   PRO; PR:Q9CQA8; -.
DR   Proteomes; UP000000589; Chromosome 16.
DR   RNAct; Q9CQA8; protein.
DR   Bgee; ENSMUSG00000035790; Expressed in motor neuron and 251 other tissues.
DR   Genevisible; Q9CQA8; MM.
DR   GO; GO:0005814; C:centriole; ISS:UniProtKB.
DR   GO; GO:0005813; C:centrosome; ISO:MGI.
DR   GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR   GO; GO:0005929; C:cilium; ISO:MGI.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR   GO; GO:0000922; C:spindle pole; ISS:UniProtKB.
DR   GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR   GO; GO:0034454; P:microtubule anchoring at centrosome; ISS:UniProtKB.
DR   GO; GO:0097712; P:vesicle targeting, trans-Golgi to periciliary membrane compartment; ISS:UniProtKB.
DR   InterPro; IPR029412; CEP19.
DR   PANTHER; PTHR31539; PTHR31539; 2.
DR   Pfam; PF14933; CEP19; 1.
PE   2: Evidence at transcript level;
KW   Cell projection; Cilium; Cilium biogenesis/degradation; Cytoplasm;
KW   Cytoskeleton; Obesity; Reference proteome.
FT   CHAIN           1..163
FT                   /note="Centrosomal protein of 19 kDa"
FT                   /id="PRO_0000251961"
SQ   SEQUENCE   163 AA;  19170 MW;  A7C8E26E4E5597E7 CRC64;
     MKYIAKKCGV RFQPPAVILI YENETEGKSR QRIMPVRNFS KFSDCTRAAE QLKNNPRHKS
     YLEQVPLKQL EKLFVFLRGS LQGQSLAETM EQIRRETTID PEEDLNKLDD KELAKRKSIM
     DELFEKNQKR KDDPTFVYDV EVEFPQDEQL LSCSWDTASV DDF