ID  Q9BV73;
PN  Centrosome-associated protein CEP250;
GN  CEP250;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm, perinuclear region {ECO:0000269|PubMed:9647649}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:26337392, ECO:0000269|PubMed:30404835, ECO:0000269|PubMed:9647649}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:31974111}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:9647649}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q60952}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q60952}. Note=Component of the core centrosome. In interphase cells, it specifically associates with the proximal ends of both mother and daughter centrioles. Associates with the centrosome in interphase cells. In mitotic cells, it dissociates from the mitotic spindle poles. At the end of cell division, it reaccumulates at centrosomes.
DR  UNIPROT: Q9BV73;
DR  UNIPROT: E1P5Q3;
DR  UNIPROT: O14812;
DR  UNIPROT: O60588;
DR  UNIPROT: Q9H450;
DR  PDB: 6OQA;
DR  OMIM: 609689;
DR  OMIM: 618358;
DR  DisGeNET: 11190;
DE  Function: May be involved in ciliogenesis (PubMed:28005958). Probably plays an important role in centrosome cohesion during interphase. Recruits CCDC102B to the proximal ends of centrioles (PubMed:30404835). {ECO:0000269|PubMed:28005958, ECO:0000269|PubMed:30404835}.
DE  Disease: Cone-rod dystrophy and hearing loss 2 (CRDHL2) [MIM:618358]: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:24780881, ECO:0000269|PubMed:29718797, ECO:0000269|PubMed:30459346, ECO:0000269|PubMed:30998843}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: A0A142I5B9; IntAct: EBI-20626135; Score: 0.35
DE  Interaction: K9N7C7; IntAct: EBI-26374676; Score: 0.35
DE  Interaction: O08788; IntAct: EBI-11066549; Score: 0.35
DE  Interaction: P0C6X7; IntAct: EBI-26377017; Score: 0.35
DE  Interaction: P0DTD1; IntAct: EBI-26950012; Score: 0.56
DE  Interaction: Q7Z3B4; IntAct: EBI-21639232; Score: 0.35
DE  Interaction: Q91B85; IntAct: EBI-11422888; Score: 0.37
DE  Interaction: Q96CV9; IntAct: EBI-25910879; Score: 0.56
DE  Interaction: Q6VMQ6; IntAct: EBI-7244323; Score: 0.37
DE  Interaction: Q15008; IntAct: EBI-1066651; Score: 0.00
DE  Interaction: Q6UVJ0; IntAct: EBI-1570162; Score: 0.27
DE  Interaction: Q04917; IntAct: EBI-1644092; Score: 0.35
DE  Interaction: O88566; IntAct: EBI-7866996; Score: 0.46
DE  Interaction: P63104; IntAct: EBI-8063698; Score: 0.35
DE  Interaction: Q8ZGW9; IntAct: EBI-2872616; Score: 0.00
DE  Interaction: Q9H0K1; IntAct: EBI-2909672; Score: 0.62
DE  Interaction: Q9HAU0; IntAct: EBI-3447325; Score: 0.00
DE  Interaction: Q9WMX2; IntAct: EBI-9082134; Score: 0.37
DE  Interaction: P35579; IntAct: EBI-11144042; Score: 0.35
DE  Interaction: Q9E7P0; IntAct: EBI-11422880; Score: 0.37
DE  Interaction: Q96KS9; IntAct: EBI-21503766; Score: 0.35
DE  Interaction: Q5SW79; IntAct: EBI-21644990; Score: 0.35
DE  Interaction: Q9NV56; IntAct: EBI-21683633; Score: 0.35
DE  Interaction: Q9H7C4; IntAct: EBI-21702482; Score: 0.35
DE  Interaction: Q96ES7; IntAct: EBI-21781962; Score: 0.35
DE  Interaction: Q96GS4; IntAct: EBI-21795617; Score: 0.35
DE  Interaction: Q15311; IntAct: EBI-21818654; Score: 0.35
DE  Interaction: Q96JB2; IntAct: EBI-21879136; Score: 0.35
DE  Interaction: Q9NQ48; IntAct: EBI-21889038; Score: 0.35
DE  Interaction: O94986; IntAct: EBI-16171575; Score: 0.35
DE  Interaction: P06576; IntAct: EBI-20904592; Score: 0.40
DE  Interaction: P27824; IntAct: EBI-20908048; Score: 0.40
DE  Interaction: Q9UII2; IntAct: EBI-20933940; Score: 0.40
DE  Interaction: P0DTC6; IntAct: EBI-26495724; Score: 0.35
DE  Interaction: Q13547; IntAct: EBI-26367383; Score: 0.35
DE  Interaction: P53355; IntAct: EBI-28938354; Score: 0.35
GO  GO:0005814;
GO  GO:0005813;
GO  GO:0036064;
GO  GO:0005829;
GO  GO:0070062;
GO  GO:0005815;
GO  GO:0048471;
GO  GO:0001917;
GO  GO:0001750;
GO  GO:0032991;
GO  GO:0008022;
GO  GO:0019904;
GO  GO:0019901;
GO  GO:0010457;
GO  GO:0060271;
GO  GO:0050908;
GO  GO:0000278;
GO  GO:1905515;
GO  GO:1904781;
GO  GO:0008104;
GO  GO:0071539;
GO  GO:0033365;
GO  GO:0030997;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  METRSPGLNNMKPQSLQLVLEEQVLALQQQMAENQAASWRKLKNSQEAQQRQATLVRKLQAKVLQYRSWCQELEKRLEAT
SQ  GGPIPQRWENVEEPNLDELLVRLEEEQQRCESLAEVNTQLRLHMEKADVVNKALREDVEKLTVDWSRARDELMRKESQWQ
SQ  MEQEFFKGYLKGEHGRLLSLWREVVTFRRHFLEMKSATDRDLMELKAEHVRLSGSLLTCCLRLTVGAQSREPNGSGRMDG
SQ  REPAQLLLLLAKTQELEKEAHERSQELIQLKSQGDLEKAELQDRVTELSALLTQSQKQNEDYEKMIKALRETVEILETNH
SQ  TELMEHEASLSRNAQEEKLSLQQVIKDITQVMVEEGDNIAQGSGHENSLELDSSIFSQFDYQDADKALTLVRSVLTRRRQ
SQ  AVQDLRQQLAGCQEAVNLLQQQHDQWEEEGKALRQRLQKLTGERDTLAGQTVDLQGEVDSLSKERELLQKAREELRQQLE
SQ  VLEQEAWRLRRVNVELQLQGDSAQGQKEEQQEELHLAVRERERLQEMLMGLEAKQSESLSELITLREALESSHLEGELLR
SQ  QEQTEVTAALARAEQSIAELSSSENTLKTEVADLRAAAVKLSALNEALALDKVGLNQQLLQLEEENQSVCSRMEAAEQAR
SQ  NALQVDLAEAEKRREALWEKNTHLEAQLQKAEEAGAELQADLRDIQEEKEEIQKKLSESRHQQEAATTQLEQLHQEAKRQ
SQ  EEVLARAVQEKEALVREKAALEVRLQAVERDRQDLAEQLQGLSSAKELLESSLFEAQQQNSVIEVTKGQLEVQIQTVTQA
SQ  KEVIQGEVRCLKLELDTERSQAEQERDAAARQLAQAEQEGKTALEQQKAAHEKEVNQLREKWEKERSWHQQELAKALESL
SQ  EREKMELEMRLKEQQTEMEAIQAQREEERTQAESALCQMQLETEKERVSLLETLLQTQKELADASQQLERLRQDMKVQKL
SQ  KEQETTGILQTQLQEAQRELKEAARQHRDDLAALQEESSSLLQDKMDLQKQVEDLKSQLVAQDDSQRLVEQEVQEKLRET
SQ  QEYNRIQKELEREKASLTLSLMEKEQRLLVLQEADSIRQQELSALRQDMQEAQGEQKELSAQMELLRQEVKEKEADFLAQ
SQ  EAQLLEELEASHITEQQLRASLWAQEAKAAQLQLRLRSTESQLEALAAEQQPGNQAQAQAQLASLYSALQQALGSVCESR
SQ  PELSGGGDSAPSVWGLEPDQNGARSLFKRGPLLTALSAEAVASALHKLHQDLWKTQQTRDVLRDQVQKLEERLTDTEAEK
SQ  SQVHTELQDLQRQLSQNQEEKSKWEGKQNSLESELMELHETMASLQSRLRRAELQRMEAQGERELLQAAKENLTAQVEHL
SQ  QAAVVEARAQASAAGILEEDLRTARSALKLKNEEVESERERAQALQEQGELKVAQGKALQENLALLTQTLAEREEEVETL
SQ  RGQIQELEKQREMQKAALELLSLDLKKRNQEVDLQQEQIQELEKCRSVLEHLPMAVQEREQKLTVQREQIRELEKDRETQ
SQ  RNVLEHQLLELEKKDQMIESQRGQVQDLKKQLVTLECLALELEENHHKMECQQKLIKELEGQRETQRVALTHLTLDLEER
SQ  SQELQAQSSQIHDLESHSTVLARELQERDQEVKSQREQIEELQRQKEHLTQDLERRDQELMLQKERIQVLEDQRTRQTKI
SQ  LEEDLEQIKLSLRERGRELTTQRQLMQERAEEGKGPSKAQRGSLEHMKLILRDKEKEVECQQEHIHELQELKDQLEQQLQ
SQ  GLHRKVGETSLLLSQREQEIVVLQQQLQEAREQGELKEQSLQSQLDEAQRALAQRDQELEALQQEQQQAQGQEERVKEKA
SQ  DALQGALEQAHMTLKERHGELQDHKEQARRLEEELAVEGRRVQALEEVLGDLRAESREQEKALLALQQQCAEQAQEHEVE
SQ  TRALQDSWLQAQAVLKERDQELEALRAESQSSRHQEEAARARAEALQEALGKAHAALQGKEQHLLEQAELSRSLEASTAT
SQ  LQASLDACQAHSRQLEEALRIQEGEIQDQDLRYQEDVQQLQQALAQRDEELRHQQEREQLLEKSLAQRVQENMIQEKQNL
SQ  GQEREEEEIRGLHQSVRELQLTLAQKEQEILELRETQQRNNLEALPHSHKTSPMEEQSLKLDSLEPRLQRELERLQAALR
SQ  QTEAREIEWREKAQDLALSLAQTKASVSSLQEVAMFLQASVLERDSEQQRLQDELELTRRALEKERLHSPGATSTAELGS
SQ  RGEQGVQLGEVSGVEAEPSPDGMEKQSWRQRLEHLQQAVARLEIDRSRLQRHNVQLRSTLEQVERERRKLKREAMRAAQA
SQ  GSLEISKATASSPTQQDGRGQKNSDAKCVAELQKEVVLLQAQLTLERKQKQDYITRSAQTSRELAGLHHSLSHSLLAVAQ
SQ  APEATVLEAETRRLDESLTQSLTSPGPVLLHPSPSTTQAASR
//