dbPAF Protein Information

Tag Content
dbPAF ID dbPAF-0000850
Uniprot Accession O15078; CE290_HUMAN; Q1PSK5; Q66GS8; Q9H2G6; Q9H6Q7; Q9H8I0;
Genbank Protein ID NP_079390.3;
Genbank Nucleotide ID NM_025114.3;
Protein Name Centrosomal protein of 290 kDa
Protein Synonyms/Alias
Gene Name CEP290
Gene Synonyms/Alias BBS14;KIAA0373;NPHP6;
Organism Homo sapiens(Human)
NCBI Taxa ID 9606
Functional Description
(View all)		 Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.
Phosphorylation Sites
 dbPAF PTMs: 35 (View all)
PositionPeptidesSourceReferences ( PMIDs )
31LADNLLISLSKVEVNcurated26074081
213SQLSKKNYELIQYLDPhosphoSitePlus22135298
348AQLDADKSNVMALQQcurated22817900
374LTEQVEQYTKEMEKNcurated23663014
382TKEMEKNTCIIEDLKPhosphoSitePlus22135298
451ALKRLKDYESGVYGLPhosphoSitePlus22135298
456KDYESGVYGLEDAVVPhosphoSitePlus22135298
569ERGKRSATSGLTTEDPhosphoSitePlus22135298
580TTEDLNLTENISQGDdbPTM 3.0;HPRD 9;curated20068231; 16381945; 23193290; 18988627
729SRKEAINYSQQLAKAcurated25003641
730RKEAINYSQQLAKANcurated25003641
832EYLSEKETWKTESKTPhosphoSitePlus22135298
883KKILAENSRKITVLQPhosphoSitePlus22135298
895VLQVNEKSLIRQYTTdbPTM 3.0;HPRD 9;PhosphoSitePlus19664995; 16381945; 23193290; 18988627; 22135298
902SLIRQYTTLVELERQPhosphoSitePlus22135298
1060VSISKKITMLEMKELPhosphoSitePlus;curated22135298; 20071362
1159VSKLREISDIARRQVcurated20873877
1209KLHQHNVSLQLSEATdbPTM 3.0;PhosphoSitePlus18187866; 16381945; 23193290; 22135298
1251EKEQALYYARLEGRNdbPTM 3.0;PhosphoSitePlus18083107; 16381945; 23193290; 22135298
1594RLELQADSSLNKFKQcurated20873877
Sequence
(Fasta)		MPPNINWKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH LFRITQSLMK 60
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRNEICQL 120
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLCQDI 180
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR 240
KNLEESVQEM EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD 300
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGIQER 360
DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST LSQQTHMKIQ STLDILKEKT 420
KEAERTAELA EADAREKDKE LVEALKRLKD YESGVYGLED AVVEIKNCKN QIKIRDREIE 480
ILTKEINKLE LKISDFLDEN EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK 540
EIESLEEERL DLKKKIRQMA QERGKRSATS GLTTEDLNLT ENISQGDRIS ERKLDLLSLK 600
NMSEAQSKNE FLSRELIEKE RDLERSRTVI AKFQNKLKEL VEENKQLEEG MKEILQAIKE 660
MQKDPDVKGG ETSLIIPSLE RLVNAIESKN AEGIFDASLH LKAQVDQLTG RNEELRQELR 720
ESRKEAINYS QQLAKANLKI DHLEKETSLL RQSEGSNVVF KGIDLPDGIA PSSASIINSQ 780
NEYLIHLLQE LENKEKKLKN LEDSLEDYNR KFAVIRHQQS LLYKEYLSEK ETWKTESKTI 840
KEEKRKLEDQ VQQDAIKVKE YNNLLNALQM DSDEMKKILA ENSRKITVLQ VNEKSLIRQY 900
TTLVELERQL RKENEKQKNE LLSMEAEVCE KIGCLQRFKE MAIFKIAALQ KVVDNSVSLS 960
ELELANKQYN ELTAKYRDIL QKDNMLVQRT SNLEHLECEN ISLKEQVESI NKELEITKEK 1020
LHTIEQAWEQ ETKLGNESSM DKAKKSITNS DIVSISKKIT MLEMKELNER QRAEHCQKMY 1080
EHLRTSLKQM EERNFELETK FAELTKINLD AQKVEQMLRD ELADSVSKAV SDADRQRILE 1140
LEKNEMELKV EVSKLREISD IARRQVEILN AQQQSRDKEV ESLRMQLLDY QAQSDEKSLI 1200
AKLHQHNVSL QLSEATALGK LESITSKLQK MEAYNLRLEQ KLDEKEQALY YARLEGRNRA 1260
KHLRQTIQSL RRQFSGALPL AQQEKFSKTM IQLQNDKLKI MQEMKNSQQE HRNMENKTLE 1320
MELKLKGLEE LISTLKDTKG AQKVINWHMK IEELRLQELK LNRELVKDKE EIKYLNNIIS 1380
EYERTISSLE EEIVQQNKFH EERQMAWDQR EVDLERQLDI FDRQQNEILN AAQKFEEATG 1440
SIPDPSLPLP NQLEIALRKI KENIRIILET RATCKSLEEK LKEKESALRL AEQNILSRDK 1500
VINELRLRLP ATAEREKLIA ELGRKEMEPK SHHTLKIAHQ TIANMQARLN QKEEVLKKYQ 1560
RLLEKAREEQ REIVKKHEED LHILHHRLEL QADSSLNKFK QTAWDLMKQS PTPVPTNKHF 1620
IRLAEMEQTV AEQDDSLSSL LVKLKKVSQD LERQREITEL KVKEFENIKL QLQENHEDEV 1680
KKVKAEVEDL KYLLDQSQKE SQCLKSELQA QKEANSRAPT TTMRNLVERL KSQLALKEKQ 1740
QKALSRALLE LRAEMTAAAE ERIISATSQK EAHLNVQQIV DRHTRELKTQ VEDLNENLLK 1800
LKEALKTSKN RENSLTDNLN DLNNELQKKQ KAYNKILREK EEIDQENDEL KRQIKRLTSG 1860
LQGKPLTDNK QSLIEELQRK VKKLENQLEG KVEEVDLKPM KEKNAKEELI RWEEGKKWQA 1920
KIEGIRNKLK EKEGEVFTLT KQLNTLKDLF AKADKEKLTL QRKLKTTGMT VDQVLGIRAL 1980
ESEKELEELK KRNLDLENDI LYMRAHQALP RDSVVEDLHL QNRYLQEKLH ALEKQFSKDT 2040
YSKPSISGIE SDDHCQREQE LQKENLKLSS ENIELKFQLE QANKDLPRLK NQVRDLKEMC 2100
EFLKKEKAEV QRKLGHVRGS GRSGKTIPEL EKTIGLMKKV VEKVQRENEQ LKKASGILTS 2160
EKMANIEQEN EKLKAELEKL KAHLGHQLSM HYESKTKGTE KIIAENERLR KELKKETDAA 2220
EKLRIAKNNL EILNEKMTVQ LEETGKRLQF AESRGPQLEG ADSKSWKSIV VTRMYETKLK 2280
ELETDIAKKN QSITDLKQLV KEATEREQKV NKYNEDLEQQ IKILKHVPEG AETEQGLKRE 2340
LQVLRLANHQ LDKEKAELIH QIEANKDQSG AESTIPDADQ LKEKIKDLET QLKMSDLEKQ 2400
HLKEEIKKLK KELENFDPSF FEEIEDLKYN YKEEVKKNIL LEEKVKKLSE QLGVELTSPV 2460
AASEEFEDEE ESPVNFPIY
Keyword

KW-0010--Activator
KW-0025--Alternative splicing
KW-0083--Bardet-Biedl syndrome
KW-0966--Cell projection
KW-1186--Ciliopathy
KW-0969--Cilium
KW-0970--Cilium biogenesis/degradation
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0206--Cytoskeleton
KW-0225--Disease mutation
KW-0979--Joubert syndrome
KW-0901--Leber congenital amaurosis
KW-0981--Meckel syndrome
KW-0991--Mental retardation
KW-0983--Nephronophthisis
KW-0539--Nucleus
KW-0550--Obesity
KW-0621--Polymorphism
KW-0653--Protein transport
KW-1185--Reference proteome
KW-0980--Senior-Loken syndrome
KW-0813--Transport
KW-0832--Ubl conjugation
Interpro

IPR032321--Cep209_CC5
IPR026201--Cep290
PROSITE
Pfam

PF16574--CEP209_CC5
Gene Ontology

GO:0034451--C:centriolar satellite
GO:0005813--C:centrosome
GO:0035869--C:ciliary transition zone
GO:0005737--C:cytoplasm
GO:0005829--C:cytosol
GO:0016020--C:membrane
GO:0005634--C:nucleus
GO:0032391--C:photoreceptor connecting cilium
GO:0001750--C:photoreceptor outer segment
GO:0043234--C:protein complex
GO:0036038--C:TCTN-B9D complex
GO:0042384--P:cilium assembly
GO:0060271--P:cilium morphogenesis
GO:0007163--P:establishment or maintenance of cell polarity
GO:0042462--P:eye photoreceptor cell development
GO:0000086--P:G2/M transition of mitotic cell cycle
GO:0030902--P:hindbrain development
GO:0000278--P:mitotic cell cycle
GO:0035058--P:nonmotile primary cilium assembly
GO:0006996--P:organelle organization
GO:0030916--P:otic vesicle formation
GO:0045494--P:photoreceptor cell maintenance
GO:0090316--P:positive regulation of intracellular protein transport
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:0048793--P:pronephros development
GO:0015031--P:protein transport
GO:0030814--P:regulation of cAMP metabolic process
GO:0070201--P:regulation of establishment of protein localization
GO:0060041--P:retina development in camera-type eye