Property Summary

NCBI Gene PubMed Count 82
Grant Count 67
R01 Count 29
Funding $8,964,072.95
PubMed Score 101.33
PubTator Score 90.88

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession O15078 Q1PSK5 Q66GS8 Q9H2G6 Q9H6Q7 Q9H8I0 Cep290
Symbols CT87
MKS4
POC3
rd16
BBS14
JBTS5
LCA10
NPHP6
SLSN6
3H11Ag

Gene

Gene RIF (47)

PMID Text
26301811 results provide a link between CEP290 and DNA replication stress and suggest CDK inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes.
26165328 Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
25998387 DDA3 controls astral spindle formation and spindle positioning by targeting Cep290 to the centrosome. Depletion of Cep290 caused a reduction of the astral spindle, leading to misorientation of the mitotic spindle.
25552655 NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24671090 The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-Leber congenital amaurosis patients and the rd16;Nrl-/- murine model.
24664739 Here we discuss many of these diverse aspects of CEP290 biology and pathology in an attempt to link what we know about the molecular mechanisms of CEP290 function with what we know about CEP290-associated disease.
24421332 Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a
24356449 The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone.
24175892 mutation in CEP290 gene in all three affected siblings.This novel 1-bp deletion results in a frameshift mutation leading to a premature stop codon and a truncated protein
24051377 Disruption of particular CEP290 functional domains may lead to particular disease phenotypes.
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AA Sequence

MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELAL      1 - 70
EEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEK     71 - 140
EKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSK    141 - 210
KNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDH    211 - 280
YQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNV    281 - 350
MALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKT    351 - 420
KEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLE    421 - 490
LKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMA    491 - 560
QERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVI    561 - 630
AKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLH    631 - 700
LKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIA    701 - 770
PSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTI    771 - 840
KEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQL    841 - 910
RKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDIL    911 - 980
QKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNS    981 - 1050
DIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRD   1051 - 1120
ELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDY   1121 - 1190
QAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRA   1191 - 1260
KHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEE   1261 - 1330
LISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFH   1331 - 1400
EERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILET   1401 - 1470
RATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQ   1471 - 1540
TIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQS   1541 - 1610
PTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEV   1611 - 1680
KKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLE   1681 - 1750
LRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLN   1751 - 1820
DLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEG   1821 - 1890
KVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL   1891 - 1960
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLH   1961 - 2030
ALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMC   2031 - 2100
EFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQEN   2101 - 2170
EKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQ   2171 - 2240
LEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKV   2241 - 2310
NKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQ   2311 - 2380
LKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSE   2381 - 2450
QLGVELTSPVAASEEFEDEEESPVNFPIY                                            2451 - 2479
//

Text Mined References (85)

PMID Year Title
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26386044 2015 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
26301811 2015 DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
26165328 Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
25998387 2015 DDA3 targets Cep290 into the centrosome to regulate spindle positioning.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
25416956 2014 A proteome-scale map of the human interactome network.
25187353 2014 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
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