Cep290
entrez
216274
canonical
uniprot
Q6A078
canonical
ensembl
ENSMUSG00000019971
resolver
ensp
ENSMUSP00000130899
resolver
ensp
ENSMUSP00000151388
resolver
ensp
ENSMUSP00000151712
resolver
ensp
ENSMUSP00000167870
resolver
enst
ENSMUST00000164751
resolver
enst
ENSMUST00000220346
resolver
genesymbol
Cep290
resolver
genesymbol_syn
Kiaa0373
resolver
genesymbol_syn
Nphp6
resolver
uniprot
E9Q9M0
resolver
uniprot
Q8BIB8
resolver
uniprot_entry
CE290_MOUSE
resolver
uniprot_entry
E9Q9M0_MOUSE
resolver
uniprot_sec
Q8BIB8
resolver
amino_acid_sequence
MPPNIKWKELIKVDPDDLPRQEELADKLLISLSKVEVNELKNEDQENMIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRDEIRQLEKQLEQKDRELEDMEKELDKEKKVNEQLALRNEEAENENSKLRRENEQLRQDIIDYQKQIDSQKESLLSRRGEDSDYRSQLSKKNYELVQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKALVHQSDAVMDQIKKENEHYRLQVRELTDLLKAKDEEDDPVMMAVNAKVEEWKLILSSKDDEIIEYQQMLQSLRGKLKNAQLDADKSNIMALKQGIQERDSQIKMLTEQVEQYTKEMEKNTFIIEDLKNELQKDKGTSNFYQQTHYMKIHSKVQILEEKTKEAERIAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVIEIKNCKAQIKIRDGEMEVLTKEINKLEMKINDILDENEALRERAGLEPKTMIDLTEFRNSKRLKQQQYRAENQVLLKEIESLEEERLDLKRKIRQMAQERGKRNAASGLTIDDLNLSETFSHENKIEGRKLNFMSLNNMNETQSKNEFLSRELAEKEKDLERSRTVIAKFQSKLKELVEENKQLEEGMKEILQAIKDMPKDSDVKGGETSLIIPSLERLVNAMESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRQSRKEAVNYSQQLVKANLKIDHLEKETDLLRQSAGSNVVYKGIDLPDGIAPSSAYIINSQNEYLIHLLQELDNKEKKLKHLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKDIWKTDSEMIREEKRKLEDQAEQDAVKVKEYNNLLSALQMDSNEMKKMLSENSRKITVLQVNEKSLIRQYTTLVEMERHLRKENGKHRNDVIAMEAEVTEKLGSLQRFKEMAIFKIAALQKVIDNSVSLSELELANKQYNELTTKYRDILQKDNMLVQRTSNLEHLECENASLKEQMEAISKELEITKEKLHTIEQAWEQETKLGNDSNMDKAKKSMTNSDIVSISKKITVLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFTELTKINLDAQKVEQMLRDELADSVTKAVSDADRQRILELEKSEVELKVEVSKLREISDIAKRQVDFLNSQQQSREKEVESLRTQLLDFQAQSDEKALIAKLHQHVVSLQISEATALGKLESVTSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLELELKLKGLEELISTLKDARGAQKVINWHVKIEELRLQELKLNRELVKGKEEIKYLNNIISEYEHTINSLEEEIVQQSKFHEERQMAWDQREVELERQLDIFDHQQNEILSAAQKFEDSTGSMPDPSLPLPNQLEIALRKIKENIQVILKTQATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATADREKLIAELERKELEPKSHHTMKIAHQTIANMQARLNHKEEVLKKYQHLLEKAREEQREIVKKHEEDLHVLHHKLEQQADNSLNKFRQTAQDLLKQSPAPVPTNKHFIRLAEMEQTVAEQDDSLSSLLTKLKKVSKDLEKQKEITELKVREFENTKLRLQETHASEVKKVKAEVEDLRHALAQAHKDSQSLKSELQAQKEANSRAPTTTMRNLVDRLKSQLALKEKQQKALSRALLELRSEMTAAAEERIIAVTSQKEANLNVQQVVERHTRELKSQIEDLNENLLKLKEALKTSKNKENSLADDLNELNNELQKKQKAYNKILREKDGIDQENDELRRQIKRLSSGLQSKTLIDNKQSLIDELQKKVKKLESQLERKVDDVDIKPVKEKSSKEELIRWEEGKKWQTKVEGLRNRLKEKEGEAHGLAKQLNTLKELFAKADKEKLTLQKKLKTTGMTVDQVLGVRALESEKELEELKKKNLDLENDILYMRTQQALPRDSVVEDLHLQNKYLQEKLHTLEKKLSKEKYSQSLTSEIESDDHCQKEQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVKDLKEMCEFLKKGKLELERKLGQVRGAGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMATIEEENRNLKAELEKLKAHFGRQLSMQFESKNKGTEKIVAENERLRKELKKEIEASEKLRIAKNNLELVNDKMAAQLEETGKRLQFAESRAPQLEGADSKSWKSIVVSRVYETKMKELESDIAKKNQSITDLKQLVREATEREQKAKKYTEDLEQQIEILKNVPEGAETEQELIRELQLLRLANNQMDKERAELIHQIEINKDQTRADSSIPDSDQLKEKINDLETQLRKLELEKQHSKEEVKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKLKKLSEQFGFELPSPLAASEHSEDGESPHSFPIY
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Cep290 are a cause of early-onset retinal degeneration with autosomal recessive inheritance. The rd16 mutant carries a deletion of residues 1599-1897 in the Cep290 protein. Homozygous rd16 mice are characterized by the appearance of white retinal vessels at 1 month of age and large pigment patches at 2 months. Retinal degeneration is apparent as early as postnatal day 19 and progresses with age. The rd16 retina exhibits altered distribution of Rpgr and phototransduction proteins within the photoreceptor cells.
uniprot
proteins
function
FUNCTION: Involved in early and late steps in cilia formation (PubMed:21565611). Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (By similarity). 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 (By similarity). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (PubMed:16632484). Required for efficient recruitment of RAB8A to primary cilium (By similarity). In the ciliary transition zone is part of the tectonic-like complex (also named B9 complex) which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (PubMed:21725307). 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 (By similarity). Activates ATF4-mediated transcription (By similarity). {ECO:0000250|UniProtKB:O15078, ECO:0000269|PubMed:16632484, ECO:0000269|PubMed:21565611, ECO:0000269|PubMed:21725307}.
uniprot
proteins
mass_dalton
289077
uniprot
proteins
mutagenesis
MUTAGEN 7; /note="W->C: Centrosomal localization retained."; /evidence="ECO:0000269|PubMed:16682970
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 (By similarity). {ECO:0000250}.
uniprot
proteins
pubmed
15368895
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
16632484
uniprot
proteins
pubmed
16682970
uniprot
proteins
pubmed
16682973
uniprot
proteins
pubmed
17705300
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
21623382
uniprot
proteins
pubmed
21725307
uniprot
proteins
pubmed
23807208
uniprot
proteins
pubmed
23943788
uniprot
proteins
sequence_length
2472
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16632484, ECO:0000269|PubMed:16682970, ECO:0000269|PubMed:16682973}. Cytoplasm {ECO:0000269|PubMed:16682973}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:21725307}. Nucleus {ECO:0000269|PubMed:16632484, ECO:0000269|PubMed:16682973}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:16632484, ECO:0000269|PubMed:16682970, ECO:0000269|PubMed:23807208}. Cell projection, cilium {ECO:0000269|PubMed:16632484, ECO:0000269|PubMed:16682970, ECO:0000269|PubMed:23943788}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:23807208}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:O15078}. Note=Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (By similarity). Found in the connecting cilium of photoreceptor cells (PubMed:16632484, PubMed:23943788), base of cilium in kidney intramedullary collecting duct cells (PubMed:16682970). Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:21725307). Localization at the ciliary transition zone as well as at centriolar satellites is BBsome-dependent (By similarity). {ECO:0000250|UniProtKB:O15078, ECO:0000269|PubMed:16632484, ECO:0000269|PubMed:16682970, ECO:0000269|PubMed:21725307, ECO:0000269|PubMed:23943788}.
uniprot
proteins