242:
219:
116:
141:
500:
493:
1134:, a small antenna-like projections of the cell membrane that plays an important role in the photoreceptors at the back of the retina (which detect light and color) and in the kidney, brain, and many other organs of the body. Knocking down levels of the CEP290 gene transcript resulted in dramatic suppression of ciliogenesis in retinal pigment epithelial cells in culture, proving just how important CEP290 is to cilia formation.
248:
147:
1359:
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T,
1228:
A mutation in this gene leads to infant and child blindness, a disease known as Leber
Congenital Amaurosis. As of today, 35 different mutations in CEP290 are responsible for causing LCA. Other mutations in CEP290 have also been identified in causing Meckel Syndrome and Joubert Syndrome, a few among
1145:
binding protein that might serve as a structural link between the microtubule core of the cilium and the overlying ciliary membrane. Disruption of CEP290's microtubule binding domain in the rd16 mouse model of CEP290 disease has been shown to result in rapid and dramatic retinal degeneration,
1149:
The discovery of the CEP290 gene has led researchers to find another gene critical in retinal function, LCA5. Clinical trials involving gene replacement of these two genes have started in
Philadelphia, where researchers are hopeful that Leber Congenital Amaurosis will one day be cured.
1146:
demonstrating the importance of CEP290 microtubule binding in disease. The role of CEP290 in promoting ciliogenesis is inhibited both by auto-regulatory domains found at either end of the CEP290 protein and through CEP290's interaction with the inhibitory protein CP110.
1360:
Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F (May 2006). "The centrosomal protein nephrocystin-6 is mutated in
Joubert syndrome and activates transcription factor ATF4".
1229:
many syndromes. A defective CEP290 gene is usually the cause of these disorders due to abnormal cilia. It is unknown how one mutation in a gene can cause so many different types of syndromes, particularly many of which affect the
Central Nervous System.
2251:
Cideciyan AV, Aleman TS, Jacobson SG, et al. (2007). "Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis".
2221:
Tory K, Lacoste T, Burglen L, et al. (2007). "High NPHP1 and NPHP6 mutation rate in patients with
Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations".
1406:
Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A (May 2006).
1409:"In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse"
1708:"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro"
255:
154:
1137:
On a molecular level, CEP290 has been shown to play a critical regulatory and structural role in primary cilium formation. Recent studies have implicated CEP290 as a
2055:
Valente EM, Silhavy JL, Brancati F, et al. (2006). "Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of
Joubert syndrome".
2364:
833:
814:
77:
1606:
McGill
University Health Centre. "Gene Responsible For Blindness In Infants And Children Identified." ScienceDaily, 4 Jun. 2007. Web. 30 Mar. 2013.
1932:
Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). "Proteomic characterization of the human centrosome by protein correlation profiling".
1306:
2868:
1288:
241:
1625:
1048:
1644:
1041:
218:
1324:
Guo J, Jin G, Meng L, Ma H, Nie D, Wu J, Yuan L, Shou C (Oct 2004). "Subcellullar localization of tumor-associated antigen 3H11Ag".
1461:
1275:
1254:
1222:
2357:
140:
115:
1631:
1529:"CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease"
1271:
1650:
1903:
Millar JK, Christie S, Porteous DJ (2004). "Yeast two-hybrid screens implicate DISC1 in brain development and function".
1870:"Global profiling of the cell surface proteome of cancer cells uncovers an abundance of proteins with chaperone function"
1250:
1179:
57:
2644:
254:
153:
247:
146:
2350:
1786:
Chen D, Shou C (2001). "Molecular cloning of a tumor-associated antigen recognized by monoclonal antibody 3H11".
1175:
2780:
878:
65:
2180:"Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype"
1225:, called LCA10. The presence of antibodies against this protein is associated with several forms of cancer.
859:
2301:"CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders"
1619:
129:
2025:
1941:
1828:
44:
2873:
2848:
2483:
1656:
1637:
1024:
973:
1578:
2287:
2209:
2166:
2080:
1965:
1385:
1159:
89:
1817:"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"
1020:
999:
969:
948:
1171:
499:
492:
2330:
2279:
2239:
2201:
2158:
2123:
2072:
2043:
2000:
1957:
1920:
1891:
1856:
1803:
1774:
1729:
1694:
1558:
1509:
1438:
1377:
1341:
37:
2320:
2312:
2269:
2261:
2231:
2191:
2148:
2113:
2105:
2064:
2033:
1990:
1949:
1912:
1881:
1846:
1836:
1795:
1764:
1754:
1719:
1684:
1548:
1540:
1499:
1491:
1428:
1420:
1369:
1333:
1218:
1214:
334:
265:
209:
164:
85:
48:, 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16, centrosomal protein 290
1582:
1194:
1183:
309:
2094:"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis"
1527:
Tsang WY, Bossard C, Khanna H, Peränen J, Swaroop A, Malhotra V, Dynlacht BD (Aug 2008).
2029:
1945:
1832:
2325:
2300:
2118:
2093:
1553:
1528:
1504:
1480:"Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration"
1479:
1433:
1408:
1198:
1131:
1851:
1816:
748:
743:
738:
733:
728:
723:
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582:
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541:
2862:
1769:
1742:
528:
2213:
2084:
1389:
69:
2768:
2707:
2291:
2170:
2137:"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks"
1969:
327:
106:
1544:
93:
2634:
1311:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1293:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1138:
2153:
2136:
1916:
1337:
410:
2433:
1163:
1123:
226:
123:
73:
1724:
1707:
2761:
2756:
1979:"Complete sequencing and characterization of 21,243 full-length human cDNAs"
1673:"Normalization and subtraction: two approaches to facilitate gene discovery"
1202:
1190:
778:
470:
348:
293:
280:
192:
179:
81:
2334:
2283:
2243:
2235:
2205:
2162:
2127:
2076:
2047:
2004:
1961:
1924:
1895:
1886:
1869:
1860:
1841:
1807:
1799:
1778:
1759:
1562:
1513:
1442:
1381:
1345:
1733:
1698:
1088:
1083:
2538:
2423:
2274:
1424:
1182:. The protein is localized to the centrosome and cilia and has sites for
1142:
1122:
The gene CEP290 is a centrosomal protein that plays an important role in
1072:
923:
904:
2038:
2013:
1953:
1743:"Serological detection of cutaneous T-cell lymphoma-associated antigens"
2830:
2825:
2740:
2687:
2604:
2374:
2265:
1689:
1672:
1104:
890:
845:
2196:
2179:
2835:
2820:
2810:
2800:
2730:
2725:
2692:
2659:
2649:
2624:
2619:
2578:
2523:
2513:
2441:
1495:
1167:
1056:
800:
2342:
2316:
2109:
2068:
1995:
1978:
1597:. US National Library of Medicine, 25 Mar. 2013. Web. 30 Mar. 2013.
1373:
2815:
2805:
2785:
2773:
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2715:
2697:
2680:
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2670:
2629:
2609:
2568:
2558:
2518:
2498:
2493:
2418:
2408:
2403:
2398:
2388:
1127:
763:
759:
2795:
2639:
2599:
2589:
2563:
2553:
2548:
2543:
2533:
2508:
2488:
2476:
2471:
2466:
2461:
2456:
2451:
2446:
2393:
1111:
508:
61:
2346:
1575:
Kniffin, Cassandra L. "OMIM Entry
Centrosomal Protein 290-KD."
2594:
2092:
den Hollander AI, Koenekoop RK, Yzer S, et al. (2006).
1815:
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
1595:
1130:
development. This gene is vital in the formation of the
317:
2299:
Brancati F, Barrano G, Silhavy JL, et al. (2007).
1741:
Eichmuller S, Usener D, Dummer R, et al. (2001).
1706:
Nagase T, Ishikawa K, Nakajima D, et al. (1997).
1620:
GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
1576:
679:
positive regulation of intracellular protein transport
2178:
Perrault I, Delphin N, Hanein S, et al. (2007).
482:
2012:
Scherer SE, Muzny DM, Buhay CJ, et al. (2006).
2749:
2706:
2658:
2577:
2432:
2381:
1114:. CEP290 is located on the Q arm of chromosome 12.
1013:
992:
962:
941:
744:
regulation of G2/M transition of mitotic cell cycle
714:
regulation of establishment of protein localization
699:
positive regulation of transcription, DNA-templated
2014:"The finished DNA sequence of human chromosome 12"
1977:Ota T, Suzuki Y, Nishikawa T, et al. (2004).
1267:
1265:
1263:
1246:
1244:
1242:
2135:Olsen JV, Blagoev B, Gnad F, et al. (2006).
1213:Mutations in this gene have been associated with
264:
163:
1462:"Entrez Gene: CEP290 centrosomal protein 290kDa"
16:Protein-coding gene in the species Homo sapiens
1478:Drivas TG, Holzbaur EL, Bennett J (Oct 2013).
1473:
1471:
1401:
1399:
1272:GRCm38: Ensembl release 89: ENSMUSG00000019971
2358:
1868:Shin BK, Wang H, Yim AM, et al. (2003).
1158:This gene encodes a protein with 13 putative
8:
1251:GRCh38: Ensembl release 89: ENSG00000198707
2365:
2351:
2343:
774:
739:ciliary basal body-plasma membrane docking
524:
305:
204:
101:
2324:
2273:
2195:
2152:
2117:
2037:
1994:
1885:
1850:
1840:
1768:
1758:
1723:
1688:
1552:
1503:
1432:
1671:Bonaldo MF, Lennon G, Soares MB (1997).
1456:
1454:
1452:
1594:"Genetics Home Reference Gene CEP290."
1238:
1221:, and recently with a frequent form of
18:
1585:N.p., 24 May 2006. Web. 30 Mar. 2013.
709:G2/M transition of mitotic cell cycle
269:
230:
225:
168:
127:
122:
7:
1010:
989:
959:
938:
914:
895:
869:
850:
824:
805:
719:eye photoreceptor cell development
487:
405:
343:
322:
14:
1107:that in humans is encoded by the
1162:, a region with homology to SMC
498:
491:
253:
246:
240:
217:
152:
145:
139:
114:
618:photoreceptor connecting cilium
1101:Centrosomal protein of 290 kDa
509:More reference expression data
471:More reference expression data
1:
1905:Biochem. Biophys. Res. Commun
1788:Biochem. Biophys. Res. Commun
623:microtubule organizing center
547:microtubule minus-end binding
238:
137:
2869:Genes on human chromosome 12
1821:Proc. Natl. Acad. Sci. U.S.A
1747:Proc. Natl. Acad. Sci. U.S.A
1545:10.1016/j.devcel.2008.07.004
1223:Leber's congenital amaurosis
1180:ATP/GTP binding site motif A
1176:tropomyosin homology domains
704:cell projection organization
453:Epithelium of choroid plexus
2890:
2154:10.1016/j.cell.2006.09.026
1917:10.1016/j.bbrc.2003.10.101
1655:gene details page in the
1636:gene details page in the
1338:10.1016/j.bbrc.2004.09.133
1326:Biochem Biophys Res Commun
1049:Chr 10: 100.32 – 100.41 Mb
663:protein-containing complex
2844:
1307:"Mouse PubMed Reference:"
1289:"Human PubMed Reference:"
1087:
1082:
1078:
1071:
1055:
1036:
1017:
996:
985:
966:
945:
934:
921:
917:
902:
898:
889:
876:
872:
857:
853:
844:
831:
827:
812:
808:
799:
784:
777:
773:
757:
552:identical protein binding
527:
523:
506:
490:
481:
468:
417:
408:
371:bronchial epithelial cell
355:
346:
316:
308:
304:
287:
274:
237:
216:
207:
203:
186:
173:
136:
113:
104:
100:
55:
52:
42:
35:
30:
26:
21:
2781:intraflagellar transport
1042:Chr 12: 88.05 – 88.14 Mb
734:neutrophil degranulation
608:ciliary transition zone
2236:10.1681/ASN.2006101164
1887:10.1074/jbc.M210455200
1842:10.1073/pnas.242603899
1800:10.1006/bbrc.2000.4087
1760:10.1073/pnas.021386498
1725:10.1093/dnares/4.2.141
689:otic vesicle formation
684:pronephros development
658:specific granule lumen
429:neural layer of retina
271:10 D1|10 51.48 cM
1209:Clinical significance
694:hindbrain development
598:gamma-tubulin complex
232:Chromosome 10 (mouse)
130:Chromosome 12 (human)
1649:genome location and
1630:genome location and
643:extracellular region
603:centriolar satellite
441:olfactory epithelium
2224:J. Am. Soc. Nephrol
2039:10.1038/nature04569
2030:2006Natur.440..346S
1954:10.1038/nature02166
1946:2003Natur.426..570A
1833:2002PNAS...9916899M
1657:UCSC Genome Browser
1638:UCSC Genome Browser
1160:coiled-coil domains
653:cytoplasmic vesicle
2266:10.1002/humu.20565
1690:10.1101/gr.6.9.791
1581:2011-10-26 at the
1425:10.1093/hmg/ddl107
879:ENSMUSG00000019971
672:Biological process
638:ciliary basal body
561:Cellular component
535:Molecular function
359:right uterine tube
94:CEP290 - orthologs
2856:
2855:
2667:outer dynein arms
2305:Am. J. Hum. Genet
2197:10.1002/humu.9485
2098:Am. J. Hum. Genet
1827:(26): 16899–903.
1098:
1097:
1094:
1093:
1067:
1066:
1032:
1031:
1007:
1006:
981:
980:
956:
955:
930:
929:
911:
910:
885:
884:
866:
865:
840:
839:
821:
820:
769:
768:
724:protein transport
519:
518:
515:
514:
477:
476:
464:
463:
402:
401:
300:
299:
199:
198:
2881:
2586:connecting cilia
2367:
2360:
2353:
2344:
2338:
2328:
2295:
2277:
2247:
2217:
2199:
2174:
2156:
2131:
2121:
2088:
2051:
2041:
2024:(7082): 346–51.
2008:
1998:
1973:
1928:
1899:
1889:
1864:
1854:
1844:
1811:
1782:
1772:
1762:
1737:
1727:
1702:
1692:
1607:
1604:
1598:
1592:
1586:
1573:
1567:
1566:
1556:
1524:
1518:
1517:
1507:
1496:10.1172/JCI69448
1475:
1466:
1465:
1458:
1447:
1446:
1436:
1403:
1394:
1393:
1356:
1350:
1349:
1321:
1315:
1314:
1303:
1297:
1296:
1285:
1279:
1269:
1258:
1248:
1219:nephronophthisis
1215:Joubert syndrome
1080:
1079:
1051:
1044:
1027:
1011:
1002:
990:
986:RefSeq (protein)
976:
960:
951:
939:
915:
896:
870:
851:
825:
806:
775:
525:
511:
502:
495:
488:
473:
445:ventricular zone
437:genital tubercle
413:
411:Top expressed in
406:
383:Brodmann area 23
379:endothelial cell
367:ventricular zone
351:
349:Top expressed in
344:
323:
306:
296:
283:
272:
257:
250:
244:
233:
221:
205:
195:
182:
171:
156:
149:
143:
132:
118:
102:
96:
47:
40:
19:
2889:
2888:
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2883:
2882:
2880:
2879:
2878:
2859:
2858:
2857:
2852:
2840:
2745:
2702:
2654:
2573:
2428:
2377:
2371:
2341:
2298:
2260:(11): 1074–83.
2250:
2220:
2177:
2134:
2091:
2054:
2011:
1976:
1940:(6966): 570–4.
1931:
1902:
1867:
1814:
1785:
1740:
1705:
1670:
1666:
1664:Further reading
1616:
1611:
1610:
1605:
1601:
1593:
1589:
1583:Wayback Machine
1574:
1570:
1526:
1525:
1521:
1490:(10): 4525–39.
1477:
1476:
1469:
1460:
1459:
1450:
1419:(11): 1847–57.
1405:
1404:
1397:
1358:
1357:
1353:
1323:
1322:
1318:
1305:
1304:
1300:
1287:
1286:
1282:
1270:
1261:
1249:
1240:
1235:
1211:
1195:phosphorylation
1156:
1120:
1089:View/Edit Mouse
1084:View/Edit Human
1047:
1040:
1037:Location (UCSC)
1023:
1019:
998:
972:
968:
947:
860:ENSG00000198707
753:
729:cilium assembly
667:
583:cell projection
556:
542:protein binding
507:
497:
496:
469:
460:
455:
451:
447:
443:
439:
435:
431:
427:
423:
409:
398:
393:
389:
385:
381:
377:
375:Achilles tendon
373:
369:
365:
361:
347:
291:
278:
270:
260:
259:
258:
251:
231:
208:Gene location (
190:
177:
169:
159:
158:
157:
150:
128:
105:Gene location (
56:
43:
36:
17:
12:
11:
5:
2887:
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2813:
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2751:
2747:
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2743:
2738:
2733:
2728:
2723:
2718:
2712:
2710:
2704:
2703:
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2700:
2695:
2690:
2684:
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2678:
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2668:
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2656:
2655:
2653:
2652:
2647:
2642:
2637:
2632:
2627:
2622:
2617:
2613:
2612:
2607:
2602:
2597:
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2574:
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2561:
2556:
2551:
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2536:
2531:
2526:
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2516:
2511:
2506:
2502:
2501:
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2444:
2438:
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2430:
2429:
2427:
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2421:
2416:
2411:
2406:
2401:
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2385:
2383:
2379:
2378:
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2370:
2369:
2362:
2355:
2347:
2340:
2339:
2317:10.1086/519026
2296:
2248:
2230:(5): 1566–75.
2218:
2175:
2132:
2110:10.1086/507318
2089:
2069:10.1038/ng1805
2052:
2009:
1996:10.1038/ng1285
1974:
1929:
1911:(4): 1019–25.
1900:
1880:(9): 7607–16.
1865:
1812:
1783:
1738:
1703:
1683:(9): 791–806.
1667:
1665:
1662:
1661:
1660:
1641:
1622:
1615:
1614:External links
1612:
1609:
1608:
1599:
1587:
1568:
1519:
1467:
1448:
1395:
1374:10.1038/ng1786
1351:
1316:
1298:
1280:
1259:
1237:
1236:
1234:
1231:
1210:
1207:
1199:myristoylation
1187:-glycosylation
1155:
1152:
1132:primary cilium
1119:
1116:
1096:
1095:
1092:
1091:
1086:
1076:
1075:
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1068:
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1038:
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433:tail of embryo
430:
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313:
310:RNA expression
302:
301:
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54:
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33:
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28:
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15:
13:
10:
9:
6:
4:
3:
2:
2886:
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2754:
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2748:
2742:
2739:
2737:
2734:
2732:
2729:
2727:
2724:
2722:
2719:
2717:
2714:
2713:
2711:
2709:
2708:Radial spokes
2705:
2699:
2696:
2694:
2691:
2689:
2686:
2685:
2682:
2679:
2677:
2674:
2672:
2669:
2666:
2665:
2663:
2661:
2657:
2651:
2648:
2646:
2643:
2641:
2638:
2636:
2633:
2631:
2628:
2626:
2623:
2621:
2618:
2616:primary cilia
2615:
2614:
2611:
2608:
2606:
2603:
2601:
2598:
2596:
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2591:
2588:
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2570:
2567:
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2517:
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2512:
2510:
2507:
2504:
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2500:
2497:
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2490:
2487:
2485:
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2478:
2475:
2473:
2470:
2468:
2465:
2463:
2460:
2458:
2455:
2453:
2450:
2448:
2445:
2443:
2440:
2439:
2437:
2435:
2431:
2425:
2422:
2420:
2417:
2415:
2412:
2410:
2407:
2405:
2402:
2400:
2397:
2395:
2392:
2390:
2387:
2386:
2384:
2380:
2376:
2368:
2363:
2361:
2356:
2354:
2349:
2348:
2345:
2336:
2332:
2327:
2322:
2318:
2314:
2311:(1): 104–13.
2310:
2306:
2302:
2297:
2293:
2289:
2285:
2281:
2276:
2275:2027.42/57387
2271:
2267:
2263:
2259:
2255:
2249:
2245:
2241:
2237:
2233:
2229:
2225:
2219:
2215:
2211:
2207:
2203:
2198:
2193:
2189:
2185:
2181:
2176:
2172:
2168:
2164:
2160:
2155:
2150:
2147:(3): 635–48.
2146:
2142:
2138:
2133:
2129:
2125:
2120:
2115:
2111:
2107:
2104:(3): 556–61.
2103:
2099:
2095:
2090:
2086:
2082:
2078:
2074:
2070:
2066:
2062:
2058:
2053:
2049:
2045:
2040:
2035:
2031:
2027:
2023:
2019:
2015:
2010:
2006:
2002:
1997:
1992:
1988:
1984:
1980:
1975:
1971:
1967:
1963:
1959:
1955:
1951:
1947:
1943:
1939:
1935:
1930:
1926:
1922:
1918:
1914:
1910:
1906:
1901:
1897:
1893:
1888:
1883:
1879:
1875:
1874:J. Biol. Chem
1871:
1866:
1862:
1858:
1853:
1848:
1843:
1838:
1834:
1830:
1826:
1822:
1818:
1813:
1809:
1805:
1801:
1797:
1794:(1): 99–103.
1793:
1789:
1784:
1780:
1776:
1771:
1766:
1761:
1756:
1753:(2): 629–34.
1752:
1748:
1744:
1739:
1735:
1731:
1726:
1721:
1718:(2): 141–50.
1717:
1713:
1709:
1704:
1700:
1696:
1691:
1686:
1682:
1678:
1674:
1669:
1668:
1663:
1658:
1654:
1653:
1648:
1647:
1642:
1639:
1635:
1634:
1629:
1628:
1623:
1621:
1618:
1617:
1613:
1603:
1600:
1596:
1591:
1588:
1584:
1580:
1577:
1572:
1569:
1564:
1560:
1555:
1550:
1546:
1542:
1539:(2): 187–97.
1538:
1534:
1530:
1523:
1520:
1515:
1511:
1506:
1501:
1497:
1493:
1489:
1485:
1484:J Clin Invest
1481:
1474:
1472:
1468:
1463:
1457:
1455:
1453:
1449:
1444:
1440:
1435:
1430:
1426:
1422:
1418:
1414:
1413:Hum Mol Genet
1410:
1402:
1400:
1396:
1391:
1387:
1383:
1379:
1375:
1371:
1368:(6): 674–81.
1367:
1363:
1355:
1352:
1347:
1343:
1339:
1335:
1332:(2): 922–30.
1331:
1327:
1320:
1317:
1312:
1308:
1302:
1299:
1294:
1290:
1284:
1281:
1277:
1273:
1268:
1266:
1264:
1260:
1256:
1252:
1247:
1245:
1243:
1239:
1232:
1230:
1226:
1224:
1220:
1216:
1208:
1206:
1204:
1200:
1196:
1192:
1188:
1186:
1181:
1177:
1173:
1169:
1165:
1161:
1153:
1151:
1147:
1144:
1140:
1135:
1133:
1129:
1125:
1117:
1115:
1113:
1110:
1106:
1102:
1090:
1085:
1081:
1077:
1074:
1070:
1063:
1061:
1058:
1054:
1050:
1046:
1043:
1039:
1035:
1028:
1026:
1022:
1016:
1012:
1009:
1003:
1001:
995:
991:
988:
984:
977:
975:
971:
965:
961:
958:
952:
950:
944:
940:
937:
935:RefSeq (mRNA)
933:
926:
925:
920:
916:
913:
907:
906:
901:
897:
894:
892:
888:
881:
880:
875:
871:
868:
862:
861:
856:
852:
849:
847:
843:
836:
835:
830:
826:
823:
817:
816:
811:
807:
804:
802:
798:
795:
792:
790:
787:
783:
780:
776:
772:
765:
761:
756:
750:
747:
745:
742:
740:
737:
735:
732:
730:
727:
725:
722:
720:
717:
715:
712:
710:
707:
705:
702:
700:
697:
695:
692:
690:
687:
685:
682:
680:
677:
676:
674:
671:
670:
664:
661:
659:
656:
654:
651:
649:
646:
644:
641:
639:
636:
634:
631:
629:
626:
624:
621:
619:
616:
614:
611:
609:
606:
604:
601:
599:
596:
594:
591:
589:
586:
584:
581:
579:
576:
574:
571:
569:
566:
565:
563:
560:
559:
553:
550:
548:
545:
543:
540:
539:
537:
534:
533:
530:
529:Gene ontology
526:
522:
510:
505:
501:
494:
489:
486:
484:
480:
472:
467:
456:
452:
448:
444:
440:
436:
432:
428:
424:
420:
419:
416:
412:
407:
404:
394:
390:
386:
382:
378:
374:
370:
366:
362:
358:
357:
354:
350:
345:
342:
341:
338:
336:
332:
330:
329:
325:
324:
321:
319:
315:
311:
307:
303:
295:
290:
286:
282:
277:
267:
263:
256:
249:
243:
236:
228:
224:
220:
215:
211:
206:
202:
194:
189:
185:
181:
176:
166:
162:
155:
148:
142:
135:
131:
125:
121:
117:
112:
108:
103:
99:
95:
91:
87:
83:
79:
75:
71:
67:
63:
59:
51:
46:
39:
34:
29:
25:
20:
2846:
2528:
2413:
2382:Nephrocystin
2308:
2304:
2257:
2253:
2227:
2223:
2187:
2183:
2144:
2140:
2101:
2097:
2063:(6): 623–5.
2060:
2056:
2021:
2017:
1986:
1982:
1937:
1933:
1908:
1904:
1877:
1873:
1824:
1820:
1791:
1787:
1750:
1746:
1715:
1711:
1680:
1676:
1651:
1645:
1632:
1626:
1602:
1590:
1571:
1536:
1532:
1522:
1487:
1483:
1416:
1412:
1365:
1361:
1354:
1329:
1325:
1319:
1310:
1301:
1292:
1283:
1227:
1212:
1184:
1166:segregation
1157:
1148:
1136:
1121:
1108:
1100:
1099:
1025:NP_001387926
1018:
997:
974:NM_001400997
967:
946:
922:
903:
877:
858:
832:
813:
793:
788:
628:cytoskeleton
449:pineal gland
425:spermatocyte
333:
326:
292:100,410,702
279:100,323,420
53:External IDs
1989:(1): 40–5.
1189:, tyrosine
1139:microtubule
588:MKS complex
395:right ovary
387:sural nerve
191:88,142,099
178:88,049,016
31:Identifiers
2874:Centrosome
2863:Categories
2849:ciliopathy
2847:see also:
2434:Basal body
2254:Hum. Mutat
2190:(4): 416.
2184:Hum. Mutat
2057:Nat. Genet
1983:Nat. Genet
1677:Genome Res
1278:, May 2017
1257:, May 2017
1233:References
1172:KID motifs
1164:chromosome
1124:centrosome
578:centrosome
391:left ovary
337:(ortholog)
74:HomoloGene
2757:cytoplasm
2484:chaperone
1362:Nat Genet
1203:amidation
1191:sulfation
1154:Structure
1021:NP_666121
1000:NP_079390
970:NM_146009
949:NM_025114
779:Orthologs
749:transport
648:centriole
568:cytoplasm
421:spermatid
82:GeneCards
2539:RPGRIP1L
2424:RPGRIP1L
2375:proteins
2373:Ciliary
2335:17564967
2284:17554762
2244:17409309
2214:24057475
2206:17345604
2163:17081983
2128:16909394
2085:32532810
2077:16682970
2048:16541075
2005:14702039
1962:14654843
1925:14623284
1896:12493773
1861:12477932
1808:11162484
1779:11149944
1579:Archived
1563:18694559
1533:Dev Cell
1514:24051377
1443:16632484
1390:16941062
1382:16682973
1346:15474516
1274:–
1253:–
1174:, three
1143:membrane
1118:Function
1073:Wikidata
758:Sources:
593:membrane
363:testicle
170:12q21.32
2831:TMEM216
2826:SDCCAG8
2769:nucleus
2741:RSPH10B
2688:axoneme
2605:RPGRIP1
2326:1950920
2292:5130364
2171:7827573
2119:1559533
2026:Bibcode
1970:4427303
1942:Bibcode
1829:Bibcode
1734:9205841
1712:DNA Res
1699:8889548
1554:3987787
1505:3784542
1434:1592550
1276:Ensembl
1255:Ensembl
1178:and an
1168:ATPases
1105:protein
891:UniProt
846:Ensembl
785:Species
764:QuickGO
633:nucleus
573:cytosol
312:pattern
70:2384917
38:Aliases
2836:TXNDC3
2821:LRRC50
2811:INPP5E
2801:ARL13B
2731:RSPH6A
2726:RSPH4A
2693:DNAH11
2660:Dynein
2650:TMEM67
2625:INPP5E
2620:ARL13B
2529:CEP290
2524:CC2D2A
2514:TRIM32
2442:BBsome
2414:CEP290
2333:
2323:
2290:
2282:
2242:
2212:
2204:
2169:
2161:
2126:
2116:
2083:
2075:
2046:
2018:Nature
2003:
1968:
1960:
1934:Nature
1923:
1894:
1859:
1852:139241
1849:
1806:
1777:
1767:
1732:
1697:
1643:Human
1633:CEP290
1627:CEP290
1624:Human
1561:
1551:
1512:
1502:
1441:
1431:
1388:
1380:
1344:
1201:, and
1170:, six
1109:CEP290
1059:search
1057:PubMed
924:Q6A078
905:O15078
834:216274
801:Entrez
613:cilium
483:BioGPS
457:morula
86:CEP290
62:610142
45:CEP290
22:CEP290
2816:KIF3A
2806:BRCC3
2792:other
2786:IFT80
2774:GLIS2
2750:Other
2736:RSPH9
2721:RSPH3
2716:RSPH1
2698:DNAI1
2681:DNAL1
2676:DNAI2
2671:DNAH5
2635:PKHD1
2630:IQCB1
2610:TULP1
2579:Cilia
2569:NPHP1
2559:NPHP4
2519:ALMS1
2505:Other
2499:BBS12
2494:BBS10
2419:GLIS2
2409:IQCB1
2404:NPHP4
2399:NPHP3
2389:NPHP1
2288:S2CID
2210:S2CID
2167:S2CID
2081:S2CID
1966:S2CID
1770:14639
1652:LCA10
1646:LCA10
1386:S2CID
1128:cilia
1103:is a
815:80184
794:Mouse
789:Human
760:Amigo
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
78:77213
2796:AHI1
2645:PKD2
2640:PKD1
2600:RPGR
2590:LCA5
2564:NEK8
2554:INVS
2549:AHI1
2544:OFD1
2534:MKS1
2509:ARL6
2489:MKKS
2477:BBS9
2472:TTC8
2467:BBS7
2462:BBS5
2457:BBS4
2452:BBS2
2447:BBS1
2394:INVS
2331:PMID
2280:PMID
2240:PMID
2202:PMID
2159:PMID
2141:Cell
2124:PMID
2073:PMID
2044:PMID
2001:PMID
1958:PMID
1921:PMID
1892:PMID
1857:PMID
1804:PMID
1775:PMID
1730:PMID
1695:PMID
1559:PMID
1510:PMID
1439:PMID
1378:PMID
1342:PMID
1217:and
1197:, N-
1141:and
1126:and
1112:gene
318:Bgee
266:Band
227:Chr.
165:Band
124:Chr.
58:OMIM
2762:KTU
2595:RP1
2321:PMC
2313:doi
2270:hdl
2262:doi
2232:doi
2192:doi
2149:doi
2145:127
2114:PMC
2106:doi
2065:doi
2034:doi
2022:440
1991:doi
1950:doi
1938:426
1913:doi
1909:311
1882:doi
1878:278
1847:PMC
1837:doi
1796:doi
1792:280
1765:PMC
1755:doi
1720:doi
1685:doi
1549:PMC
1541:doi
1500:PMC
1492:doi
1488:123
1429:PMC
1421:doi
1370:doi
1334:doi
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