CEP290
entrez
80184
canonical
uniprot
O15078
canonical
ensembl
ENSG00000198707
resolver
ensp
ENSP00000308021
resolver
ensp
ENSP00000448012
resolver
ensp
ENSP00000502161
resolver
ensp
ENSP00000502298
resolver
ensp
ENSP00000502503
resolver
enst
ENST00000309041
resolver
enst
ENST00000552810
resolver
enst
ENST00000675408
resolver
enst
ENST00000675476
resolver
genesymbol
CEP290
resolver
genesymbol_syn
BBS14
resolver
genesymbol_syn
KIAA0373
resolver
genesymbol_syn
NPHP6
resolver
hgnc
HGNC:29021
resolver
uniprot
A0A6Q8PGB1
resolver
uniprot
A0A6Q8PGP6
resolver
uniprot
J3KNF5
resolver
uniprot
Q05BJ6
resolver
uniprot
Q1PSK5
resolver
uniprot
Q66GS8
resolver
uniprot
Q9H2G6
resolver
uniprot
Q9H6Q7
resolver
uniprot
Q9H8I0
resolver
uniprot_entry
A0A6Q8PGB1_HUMAN
resolver
uniprot_entry
A0A6Q8PGP6_HUMAN
resolver
uniprot_entry
CE290_HUMAN
resolver
uniprot_entry
J3KNF5_HUMAN
resolver
uniprot_entry
Q05BJ6_HUMAN
resolver
uniprot_sec
Q1PSK5
resolver
uniprot_sec
Q66GS8
resolver
uniprot_sec
Q9H2G6
resolver
uniprot_sec
Q9H6Q7
resolver
uniprot_sec
Q9H8I0
resolver
amino_acid_sequence
MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 5 (JBTS5) [MIM:610188]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. {ECO:0000269|PubMed:16682970, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:22425360, ECO:0000269|PubMed:26166481, ECO:0000269|PubMed:26477546, ECO:0000269|PubMed:34196201}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Senior-Loken syndrome 6 (SLSN6) [MIM:610189]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269|PubMed:20683928}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:16909394, ECO:0000269|PubMed:20683928, ECO:0000269|PubMed:21602930}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Meckel syndrome 4 (MKS4) [MIM:611134]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:17564974, ECO:0000269|PubMed:31411728, ECO:0000269|PubMed:34196201}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. {ECO:0000269|PubMed:11149944}.; DISEASE: Bardet-Biedl syndrome 14 (BBS14) [MIM:615991]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:18327255}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973). {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:17705300, ECO:0000269|PubMed:18694559, ECO:0000269|PubMed:24421332, ECO:0000269|PubMed:25552655}.
uniprot
proteins
mass_dalton
290386
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause its displacement from centriolar satellites. {ECO:0000269|PubMed:24121310}.
uniprot
proteins
pubmed
11149944
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16682970
uniprot
proteins
pubmed
16682973
uniprot
proteins
pubmed
16909394
uniprot
proteins
pubmed
17564967
uniprot
proteins
pubmed
17564974
uniprot
proteins
pubmed
17617513
uniprot
proteins
pubmed
17705300
uniprot
proteins
pubmed
18327255
uniprot
proteins
pubmed
18694559
uniprot
proteins
pubmed
18723859
uniprot
proteins
pubmed
18950740
uniprot
proteins
pubmed
20200501
uniprot
proteins
pubmed
20683928
uniprot
proteins
pubmed
21493627
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
21602930
uniprot
proteins
pubmed
22425360
uniprot
proteins
pubmed
22797915
uniprot
proteins
pubmed
22863007
uniprot
proteins
pubmed
22940612
uniprot
proteins
pubmed
23446637
uniprot
proteins
pubmed
23644468
uniprot
proteins
pubmed
23943788
uniprot
proteins
pubmed
24051377
uniprot
proteins
pubmed
24121310
uniprot
proteins
pubmed
24421332
uniprot
proteins
pubmed
24816561
uniprot
proteins
pubmed
25552655
uniprot
proteins
pubmed
26166481
uniprot
proteins
pubmed
26477546
uniprot
proteins
pubmed
28235840
uniprot
proteins
pubmed
31411728
uniprot
proteins
pubmed
32453716
uniprot
proteins
pubmed
34196201
uniprot
proteins
pubmed
36606424
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
2479
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:21493627, ECO:0000269|PubMed:21565611, ECO:0000269|PubMed:22797915}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:17705300, ECO:0000269|PubMed:21493627, ECO:0000269|PubMed:22797915, ECO:0000269|PubMed:23943788, ECO:0000269|PubMed:24121310}. Nucleus {ECO:0000250|UniProtKB:Q6A078}. Cell projection, cilium {ECO:0000269|PubMed:23943788, ECO:0000269|PubMed:36606424}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q6A078}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22797915}. Cytoplasmic vesicle {ECO:0000303|PubMed:24051377}. Note=Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (PubMed:24121310). Found in the connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells (By similarity). Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:23943788, PubMed:36606424). Localization at the ciliary transition zone as well as at centriolar satellites is BBsome-dependent (PubMed:23943788). {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:23943788, ECO:0000269|PubMed:24121310, ECO:0000269|PubMed:36606424}.
uniprot
proteins