Gene name: CEP290

Uniprot entry:

O15078

Protein names:

Centrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin-6) (Tumor antigen se2-2)

Protein sequence:

1_MPPNI 6_ NWKEI 11_ MKVDP 16_ DDLPR 21_ QEELA 26_ DNLLI 31_ SLSKV 36_ EVNEL 41_ KSEKQ 46_ ENVIH 51_ LFRIT 56_ QSLMK 61_ MKAQE 66_ VELAL 71_ EEVEK 76_ AGEEQ 81_ AKFEN 86_ QLKTK 91_ VMKLE 96_ NELEM 101_ AQQSA 106_ GGRDT 111_ RFLRN 116_ EICQL 121_ EKQLE 126_ QKDRE 131_ LEDME 136_ KELEK 141_ EKKVN 146_ EQLAL 151_ RNEEA 156_ ENENS 161_ KLRRE 166_ NKRLK 171_ KKNEQ 176_ LCQDI 181_ IDYQK 186_ QIDSQ 191_ KETLL 196_ SRRGE 201_ DSDYR 206_ SQLSK 211_ KNYEL 216_ IQYLD 221_ EIQTL 226_ TEANE 231_ KIEVQ 236_ NQEMR 241_ KNLEE 246_ SVQEM 251_ EKMTD 256_ EYNRM 261_ KAIVH 266_ QTDNV 271_ IDQLK 276_ KENDH 281_ YQLQV 286_ QELTD 291_ LLKSK 296_ NEEDD 301_ PIMVA 306_ VNAKV 311_ EEWKL 316_ ILSSK 321_ DDEII 326_ EYQQM 331_ LHNLR 336_ EKLKN 341_ AQLDA 346_ DKSNV 351_ MALQQ 356_ GIQER 361_ DSQIK 366_ MLTEQ 371_ VEQYT 376_ KEMEK 381_ NTCII 386_ EDLKN 391_ ELQRN 396_ KGAST 401_ LSQQT 406_ HMKIQ 411_ STLDI 416_ LKEKT 421_ KEAER 426_ TAELA 431_ EADAR 436_ EKDKE 441_ LVEAL 446_ KRLKD 451_ YESGV 456_ YGLED 461_ AVVEI 466_ KNCKN 471_ QIKIR 476_ DREIE 481_ ILTKE 486_ INKLE 491_ LKISD 496_ FLDEN 501_ EALRE 506_ RVGLE 511_ PKTMI 516_ DLTEF 521_ RNSKH 526_ LKQQQ 531_ YRAEN 536_ QILLK 541_ EIESL 546_ EEERL 551_ DLKKK 556_ IRQMA 561_ QERGK 566_ RSATS 571_ GLTTE 576_ DLNLT 581_ ENISQ 586_ GDRIS 591_ ERKLD 596_ LLSLK 601_ NMSEA 606_ QSKNE 611_ FLSRE 616_ LIEKE 621_ RDLER 626_ SRTVI 631_ AKFQN 636_ KLKEL 641_ VEENK 646_ QLEEG 651_ MKEIL 656_ QAIKE 661_ MQKDP 666_ DVKGG 671_ ETSLI 676_ IPSLE 681_ RLVNA 686_ IESKN 691_ AEGIF 696_ DASLH 701_ LKAQV 706_ DQLTG 711_ RNEEL 716_ RQELR 721_ ESRKE 726_ AINYS 731_ QQLAK 736_ ANLKI 741_ DHLEK 746_ ETSLL 751_ RQSEG 756_ SNVVF 761_ KGIDL 766_ PDGIA 771_ PSSAS 776_ IINSQ 781_ NEYLI 786_ HLLQE 791_ LENKE 796_ KKLKN 801_ LEDSL 806_ EDYNR 811_ KFAVI 816_ RHQQS 821_ LLYKE 826_ YLSEK 831_ ETWKT 836_ ESKTI 841_ KEEKR 846_ KLEDQ 851_ VQQDA 856_ IKVKE 861_ YNNLL 866_ NALQM 871_ DSDEM 876_ KKILA 881_ ENSRK 886_ ITVLQ 891_ VNEKS 896_ LIRQY 901_ TTLVE 906_ LERQL 911_ RKENE 916_ KQKNE 921_ LLSME 926_ AEVCE 931_ KIGCL 936_ QRFKE 941_ MAIFK 946_ IAALQ 951_ KVVDN 956_ SVSLS 961_ ELELA 966_ NKQYN 971_ ELTAK 976_ YRDIL 981_ QKDNM 986_ LVQRT 991_ SNLEH 996_ LECEN 1001_ ISLKE 1006_ QVESI 1011_ NKELE 1016_ ITKEK 1021_ LHTIE 1026_ QAWEQ 1031_ ETKLG 1036_ NESSM 1041_ DKAKK 1046_ SITNS 1051_ DIVSI 1056_ SKKIT 1061_ MLEMK 1066_ ELNER 1071_ QRAEH 1076_ CQKMY 1081_ EHLRT 1086_ SLKQM 1091_ EERNF 1096_ ELETK 1101_ FAELT 1106_ KINLD 1111_ AQKVE 1116_ QMLRD 1121_ ELADS 1126_ VSKAV 1131_ SDADR 1136_ QRILE 1141_ LEKNE 1146_ MELKV 1151_ EVSKL 1156_ REISD 1161_ IARRQ 1166_ VEILN 1171_ AQQQS 1176_ RDKEV 1181_ ESLRM 1186_ QLLDY 1191_ QAQSD 1196_ EKSLI 1201_ AKLHQ 1206_ HNVSL 1211_ QLSEA 1216_ TALGK 1221_ LESIT 1226_ SKLQK 1231_ MEAYN 1236_ LRLEQ 1241_ KLDEK 1246_ EQALY 1251_ YARLE 1256_ GRNRA 1261_ KHLRQ 1266_ TIQSL 1271_ RRQFS 1276_ GALPL 1281_ AQQEK 1286_ FSKTM 1291_ IQLQN 1296_ DKLKI 1301_ MQEMK 1306_ NSQQE 1311_ HRNME 1316_ NKTLE 1321_ MELKL 1326_ KGLEE 1331_ LISTL 1336_ KDTKG 1341_ AQKVI 1346_ NWHMK 1351_ IEELR 1356_ LQELK 1361_ LNREL 1366_ VKDKE 1371_ EIKYL 1376_ NNIIS 1381_ EYERT 1386_ ISSLE 1391_ EEIVQ 1396_ QNKFH 1401_ EERQM 1406_ AWDQR 1411_ EVDLE 1416_ RQLDI 1421_ FDRQQ 1426_ NEILN 1431_ AAQKF 1436_ EEATG 1441_ SIPDP 1446_ SLPLP 1451_ NQLEI 1456_ ALRKI 1461_ KENIR 1466_ IILET 1471_ RATCK 1476_ SLEEK 1481_ LKEKE 1486_ SALRL 1491_ AEQNI 1496_ LSRDK 1501_ VINEL 1506_ RLRLP 1511_ ATAER 1516_ EKLIA 1521_ ELGRK 1526_ EMEPK 1531_ SHHTL 1536_ KIAHQ 1541_ TIANM 1546_ QARLN 1551_ QKEEV 1556_ LKKYQ 1561_ RLLEK 1566_ AREEQ 1571_ REIVK 1576_ KHEED 1581_ LHILH 1586_ HRLEL 1591_ QADSS 1596_ LNKFK 1601_ QTAWD 1606_ LMKQS 1611_ PTPVP 1616_ TNKHF 1621_ IRLAE 1626_ MEQTV 1631_ AEQDD 1636_ SLSSL 1641_ LVKLK 1646_ KVSQD 1651_ LERQR 1656_ EITEL 1661_ KVKEF 1666_ ENIKL 1671_ QLQEN 1676_ HEDEV 1681_ KKVKA 1686_ EVEDL 1691_ KYLLD 1696_ QSQKE 1701_ SQCLK 1706_ SELQA 1711_ QKEAN 1716_ SRAPT 1721_ TTMRN 1726_ LVERL 1731_ KSQLA 1736_ LKEKQ 1741_ QKALS 1746_ RALLE 1751_ LRAEM 1756_ TAAAE 1761_ ERIIS 1766_ ATSQK 1771_ EAHLN 1776_ VQQIV 1781_ DRHTR 1786_ ELKTQ 1791_ VEDLN 1796_ ENLLK 1801_ LKEAL 1806_ KTSKN 1811_ RENSL 1816_ TDNLN 1821_ DLNNE 1826_ LQKKQ 1831_ KAYNK 1836_ ILREK 1841_ EEIDQ 1846_ ENDEL 1851_ KRQIK 1856_ RLTSG 1861_ LQGKP 1866_ LTDNK 1871_ QSLIE 1876_ ELQRK 1881_ VKKLE 1886_ NQLEG 1891_ KVEEV 1896_ DLKPM 1901_ KEKNA 1906_ KEELI 1911_ RWEEG 1916_ KKWQA 1921_ KIEGI 1926_ RNKLK 1931_ EKEGE 1936_ VFTLT 1941_ KQLNT 1946_ LKDLF 1951_ AKADK 1956_ EKLTL 1961_ QRKLK 1966_ TTGMT 1971_ VDQVL 1976_ GIRAL 1981_ ESEKE 1986_ LEELK 1991_ KRNLD 1996_ LENDI 2001_ LYMRA 2006_ HQALP 2011_ RDSVV 2016_ EDLHL 2021_ QNRYL 2026_ QEKLH 2031_ ALEKQ 2036_ FSKDT 2041_ YSKPS 2046_ ISGIE 2051_ SDDHC 2056_ QREQE 2061_ LQKEN 2066_ LKLSS 2071_ ENIEL 2076_ KFQLE 2081_ QANKD 2086_ LPRLK 2091_ NQVRD 2096_ LKEMC 2101_ EFLKK 2106_ EKAEV 2111_ QRKLG 2116_ HVRGS 2121_ GRSGK 2126_ TIPEL 2131_ EKTIG 2136_ LMKKV 2141_ VEKVQ 2146_ RENEQ 2151_ LKKAS 2156_ GILTS 2161_ EKMAN 2166_ IEQEN 2171_ EKLKA 2176_ ELEKL 2181_ KAHLG 2186_ HQLSM 2191_ HYESK 2196_ TKGTE 2201_ KIIAE 2206_ NERLR 2211_ KELKK 2216_ ETDAA 2221_ EKLRI 2226_ AKNNL 2231_ EILNE 2236_ KMTVQ 2241_ LEETG 2246_ KRLQF 2251_ AESRG 2256_ PQLEG 2261_ ADSKS 2266_ WKSIV 2271_ VTRMY 2276_ ETKLK 2281_ ELETD 2286_ IAKKN 2291_ QSITD 2296_ LKQLV 2301_ KEATE 2306_ REQKV 2311_ NKYNE 2316_ DLEQQ 2321_ IKILK 2326_ HVPEG 2331_ AETEQ 2336_ GLKRE 2341_ LQVLR 2346_ LANHQ 2351_ LDKEK 2356_ AELIH 2361_ QIEAN 2366_ KDQSG 2371_ AESTI 2376_ PDADQ 2381_ LKEKI 2386_ KDLET 2391_ QLKMS 2396_ DLEKQ 2401_ HLKEE 2406_ IKKLK 2411_ KELEN 2416_ FDPSF 2421_ FEEIE 2426_ DLKYN 2431_ YKEEV 2436_ KKNIL 2441_ LEEKV 2446_ KKLSE 2451_ QLGVE 2456_ LTSPV 2461_ AASEE 2466_ FEDEE 2471_ESPVN

Protein annotations

Protein functions:

1: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). 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 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). 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 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973)