| Entry |
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| Symbol |
CEP290, 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
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| Name |
(RefSeq) centrosomal protein 290
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| KO |
| K16533 | centrosomal protein CEP290 |
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| Organism |
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| Disease |
| H00530 | Joubert syndrome and related disorders |
| H00837 | Leber congenital amaurosis |
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| Drug target |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03036 Chromosome and associated proteins [BR:hsa03036]
80184 (CEP290)
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:hsa03037]
80184 (CEP290)
Chromosome and associated proteins [BR:hsa03036]
Eukaryotic type
Centrosome formation proteins
Pericentriolar materials (PCM)
Centriolar satellite
80184 (CEP290)
Cilium and associated proteins [BR:hsa03037]
Primary cilia and associated proteins
Nephronophthisis-related proteins
80184 (CEP290)
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| SSDB |
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| Motif |
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| Other DBs |
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| LinkDB |
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| Position |
12:complement(88049016..88142088)
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| AA seq |
2479 aa
MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMK
MKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQL
EKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDI
IDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMR
KNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDD
PIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQER
DSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKT
KEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIE
ILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLK
EIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLK
NMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKE
MQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELR
ESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQ
NEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTI
KEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQY
TTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLS
ELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEK
LHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMY
EHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILE
LEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLI
AKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRA
KHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLE
MELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIIS
EYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATG
SIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDK
VINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQ
RLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHF
IRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEV
KKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQ
QKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLK
LKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSG
LQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQA
KIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRAL
ESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDT
YSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMC
EFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTS
EKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAA
EKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLK
ELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRE
LQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQ
HLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPV
AASEEFEDEEESPVNFPIY |
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| NT seq |
7440 nt +upstreamnt +downstreamnt
atgccacctaatataaactggaaagaaataatgaaagttgacccagatgacctgccccgt
caagaagaactggcagataatttattgatttccttatccaaggtggaagtaaatgagcta
aaaagtgaaaagcaagaaaatgtgatacaccttttcagaattactcagtcactaatgaag
atgaaagctcaagaagtggagctggctttggaagaagtagaaaaagctggagaagaacaa
gcaaaatttgaaaatcaattaaaaactaaagtaatgaaactggaaaatgaactggagatg
gctcagcagtctgcaggtggacgagatactcggtttttacgtaatgaaatttgccaactt
gaaaaacaattagaacaaaaagatagagaattggaggacatggaaaaggagttggagaaa
gagaagaaagttaatgagcaattggctcttcgaaatgaggaggcagaaaatgaaaacagc
aaattaagaagagagaacaaacgtctaaagaaaaagaatgaacaactttgtcaggatatt
attgactaccagaaacaaatagattcacagaaagaaacacttttatcaagaagaggggaa
gacagtgactaccgatcacagttgtctaaaaaaaactatgagcttatccaatatcttgat
gaaattcagactttaacagaagctaatgagaaaattgaagttcagaatcaagaaatgaga
aaaaatttagaagagtctgtacaggaaatggagaagatgactgatgaatataatagaatg
aaagctattgtgcatcagacagataatgtaatagatcagttaaaaaaagaaaacgatcat
tatcaacttcaagtgcaggagcttacagatcttctgaaatcaaaaaatgaagaagatgat
ccaattatggtagctgtcaatgcaaaagtagaagaatggaagctaattttgtcttctaaa
gatgatgaaattattgagtatcagcaaatgttacataacctaagggagaaacttaagaat
gctcagcttgatgctgataaaagtaatgttatggctctacagcagggtatacaggaacga
gacagtcaaattaagatgctcaccgaacaagtagaacaatatacaaaagaaatggaaaag
aatacttgtattattgaagatttgaaaaatgagctccaaagaaacaaaggtgcttcaacc
ctttctcaacagactcatatgaaaattcagtcaacgttagacattttaaaagagaaaact
aaagaggctgagagaacagctgaactggctgaggctgatgctagggaaaaggataaagaa
ttagttgaggctctgaagaggttaaaagattatgaatcgggagtatatggtttagaagat
gctgtcgttgaaataaagaattgtaaaaaccaaattaaaataagagatcgagagattgaa
atattaacaaaggaaatcaataaacttgaattgaagatcagtgatttccttgatgaaaat
gaggcacttagagagcgtgtgggccttgaaccaaagacaatgattgatttaactgaattt
agaaatagcaaacacttaaaacagcagcagtacagagctgaaaaccagattcttttgaaa
gagattgaaagtctagaggaagaacgacttgatctgaaaaaaaaaattcgtcaaatggct
caagaaagaggaaaaagaagtgcaacttcaggattaaccactgaggacctgaacctaact
gaaaacatttctcaaggagatagaataagtgaaagaaaattggatttattgagcctcaaa
aatatgagtgaagcacaatcaaagaatgaatttctttcaagagaactaattgaaaaagaa
agagatttagaaaggagtaggacagtgatagccaaatttcagaataaattaaaagaatta
gttgaagaaaataagcaacttgaagaaggtatgaaagaaatattgcaagcaattaaggaa
atgcagaaagatcctgatgttaaaggaggagaaacatctctaattatccctagccttgaa
agactagttaatgctatagaatcaaagaatgcagaaggaatctttgatgcgagtctgcat
ttgaaagcccaagttgatcagcttaccggaagaaatgaagaattaagacaggagctcagg
gaatctcggaaagaggctataaattattcacagcagttggcaaaagctaatttaaagata
gaccatcttgaaaaagaaactagtcttttacgacaatcagaaggatcaaatgttgttttt
aaaggaattgacttacctgatgggatagcaccatctagtgccagtatcattaattctcag
aatgaatatttaatacatttgttacaggaactagaaaataaagaaaaaaagttaaagaat
ttagaagattctcttgaagattacaacagaaaatttgctgtaattcgtcatcaacaaagt
ttgttgtataaagaatacctaagtgaaaaggagacctggaaaacagaatctaaaacaata
aaagaggaaaagagaaaacttgaggatcaagtccaacaagatgctataaaagtaaaagaa
tataataatttgctcaatgctcttcagatggattcggatgaaatgaaaaaaatacttgca
gaaaatagtaggaaaattactgttttgcaagtgaatgaaaaatcacttataaggcaatat
acaaccttagtagaattggagcgacaacttagaaaagaaaatgagaagcaaaagaatgaa
ttgttgtcaatggaggctgaagtttgtgaaaaaattgggtgtttgcaaagatttaaggaa
atggccattttcaagattgcagctctccaaaaagttgtagataatagtgtttctttgtct
gaactagaactggctaataaacagtacaatgaactgactgctaagtacagggacatcttg
caaaaagataatatgcttgttcaaagaacaagtaacttggaacacctggagtgtgaaaac
atctccttaaaagaacaagtggagtctataaataaagaactggagattaccaaggaaaaa
cttcacactattgaacaagcctgggaacaggaaactaaattaggtaatgaatctagcatg
gataaggcaaagaaatcaataaccaacagtgacattgtttccatttcaaaaaaaataact
atgctggaaatgaaggaattaaatgaaaggcagcgggctgaacattgtcaaaaaatgtat
gaacacttacggacttcgttaaagcaaatggaggaacgtaattttgaattggaaaccaaa
tttgctgagcttaccaaaatcaatttggatgcacagaaggtggaacagatgttaagagat
gaattagctgatagtgtgagcaaggcagtaagtgatgctgataggcaacggattctagaa
ttagagaagaatgaaatggaactaaaagttgaagtgtcaaaactgagagagatttctgat
attgccagaagacaagttgaaattttgaatgcacaacaacaatctagggacaaggaagta
gagtccctcagaatgcaactgctagactatcaggcacagtctgatgaaaagtcgctcatt
gccaagttgcaccaacataatgtctctcttcaactgagtgaggctactgctcttggtaag
ttggagtcaattacatctaaactgcagaagatggaggcctacaacttgcgcttagagcag
aaacttgatgaaaaagaacaggctctctattatgctcgtttggagggaagaaacagagca
aaacatctgcgccaaacaattcagtctctacgacgacagtttagtggagctttacccttg
gcacaacaggaaaagttctccaaaacaatgattcaactacaaaatgacaaacttaagata
atgcaagaaatgaaaaattctcaacaagaacatagaaatatggagaacaaaacattggag
atggaattaaaattaaagggcctggaagagttaataagcactttaaaggataccaaagga
gcccaaaaggtaatcaactggcatatgaaaatagaagaacttcgtcttcaagaacttaaa
ctaaatcgggaattagtcaaggataaagaagaaataaaatatttgaataacataatttct
gaatatgaacgtacaatcagcagtcttgaagaagaaattgtgcaacagaacaagtttcat
gaagaaagacaaatggcctgggatcaaagagaagttgacctggaacgccaactagacatt
tttgaccgtcagcaaaatgaaatactaaatgcggcacaaaagtttgaagaagctacagga
tcaatccctgaccctagtttgccccttccaaatcaacttgagatcgctctaaggaaaatt
aaggagaacattcgaataattctagaaacacgggcaacttgcaaatcactagaagagaaa
ctaaaagagaaagaatctgctttaaggttagcagaacaaaatatactgtcaagagacaaa
gtaatcaatgaactgaggcttcgattgcctgccactgcagaaagagaaaagctcatagct
gagctaggcagaaaagagatggaaccaaaatctcaccacacattgaaaattgctcatcaa
accattgcaaacatgcaagcaaggttaaatcaaaaagaagaagtattaaagaagtatcaa
cgtcttctagaaaaagccagagaggagcaaagagaaattgtgaagaaacatgaggaagac
cttcatattcttcatcacagattagaactacaggctgatagttcactaaataaattcaaa
caaacggcttgggatttaatgaaacagtctcccactccagttcctaccaacaagcatttt
attcgtctggctgagatggaacagacagtagcagaacaagatgactctctttcctcactc
ttggtcaaactaaagaaagtatcacaagatttggagagacaaagagaaatcactgaatta
aaagtaaaagaatttgaaaatatcaaattacagcttcaagaaaaccatgaagatgaagtg
aaaaaagtaaaagcggaagtagaggatttaaagtatcttctggaccagtcacaaaaggag
tcacagtgtttaaaatctgaacttcaggctcaaaaagaagcaaattcaagagctccaaca
actacaatgagaaatctagtagaacggctaaagagccaattagccttgaaggagaaacaa
cagaaagcacttagtcgggcacttttagaactccgggcagaaatgacagcagctgctgaa
gaacgtattatttctgcaacttctcaaaaagaggcccatctcaatgttcaacaaatcgtt
gatcgacatactagagagctaaagacacaagttgaagatttaaatgaaaatcttttaaaa
ttgaaagaagcacttaaaacaagtaaaaacagagaaaactcactaactgataatttgaat
gacttaaataatgaactgcaaaagaaacaaaaagcctataataaaatacttagagagaaa
gaggaaattgatcaagagaatgatgaactgaaaaggcaaattaaaagactaaccagtgga
ttacagggcaaacccctgacagataataaacaaagtctaattgaagaactccaaaggaaa
gttaaaaaactagagaaccaattagagggaaaggtggaggaagtagacctaaaacctatg
aaagaaaagaatgctaaagaagaattaattaggtgggaagaaggtaaaaagtggcaagcc
aaaatagaaggaattcgaaacaagttaaaagagaaagagggggaagtctttactttaaca
aagcagttgaatactttgaaggatctttttgccaaagccgataaagagaaacttactttg
cagaggaaactaaaaacaactggcatgactgttgatcaggttttgggaatacgagctttg
gagtcagaaaaagaattggaagaattaaaaaagagaaatcttgacttagaaaatgatata
ttgtatatgagggcccaccaagctcttcctcgagattctgttgtagaagatttacattta
caaaatagatacctccaagaaaaacttcatgctttagaaaaacagttttcaaaggataca
tattctaagccttcaatttcaggaatagagtcagatgatcattgtcagagagaacaggag
cttcagaaggaaaacttgaagttgtcatctgaaaatattgaactgaaatttcagcttgaa
caagcaaataaagatttgccaagattaaagaatcaagtcagagatttgaaggaaatgtgt
gaatttcttaagaaagaaaaagcagaagttcagcggaaacttggccatgttagagggtct
ggtagaagtggaaagacaatcccagaactggaaaaaaccattggtttaatgaaaaaagta
gttgaaaaagtccagagagaaaatgaacagttgaaaaaagcatcaggaatattgactagt
gaaaaaatggctaatattgagcaggaaaatgaaaaattgaaggctgaattagaaaaactt
aaagctcatcttgggcatcagttgagcatgcactatgaatccaagaccaaaggcacagaa
aaaattattgctgaaaatgaaaggcttcgtaaagaacttaaaaaagaaactgatgctgca
gagaaattacggatagcaaagaataatttagagatattaaatgagaagatgacagttcaa
ctagaagagactggtaagagattgcagtttgcagaaagcagaggtccacagcttgaaggt
gctgacagtaagagctggaaatccattgtggttacaagaatgtatgaaaccaagttaaaa
gaattggaaactgatattgccaaaaaaaatcaaagcattactgaccttaaacagcttgta
aaagaagcaacagagagagaacaaaaagttaacaaatacaatgaagaccttgaacaacag
attaagattcttaaacatgttcctgaaggtgctgagacagagcaaggccttaaacgggag
cttcaagttcttagattagctaatcatcagctggataaagagaaagcagaattaatccat
cagatagaagctaacaaggaccaaagtggagctgaaagcaccatacctgatgctgatcaa
ctaaaggaaaaaataaaagatctagagacacagctcaaaatgtcagatctagaaaagcag
catttgaaggaggaaataaagaagctgaaaaaagaactggaaaattttgatccttcattt
tttgaagaaattgaagatcttaagtataattacaaggaagaagtgaagaagaatattctc
ttagaagagaaggtaaaaaaactttcagaacaattgggagttgaattaactagccctgtt
gctgcttctgaagagtttgaagatgaagaagaaagtcctgttaatttccccatttactaa |
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