KEGG   Homo sapiens (human): 80184
Entry
80184             CDS       T01001                                 

Gene name
CEP290, 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
Definition
(RefSeq) centrosomal protein 290
  KO
K16533  centrosomal protein CEP290
Organism
hsa  Homo sapiens (human)
Disease
H00261  Meckel syndrome
H00418  Bardet-Biedl syndrome
H00530  Joubert syndrome
H00537  Nephronophthisis
H00538  Senior-Loken syndrome
H00837  Leber congenital amaurosis
H01811  Arima syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    80184 (CEP290)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Pericentriolar materials (PCM)
    Centriolar satellite
     80184 (CEP290)
   TCTN-B9D complex
    80184 (CEP290)
SSDB
Motif
Pfam: CEP209_CC5
Other DBs
NCBI-GeneID: 80184
NCBI-ProteinID: NP_079390
OMIM: 610142
HGNC: 29021
Ensembl: ENSG00000198707
Vega: OTTHUMG00000169871
Pharos: O15078(Tbio)
UniProt: Q05BJ6
Position
12q21.32
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
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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