297:
274:
171:
196:
562:
548:
555:
303:
202:
1772:
1363:
Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P. (2014) Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
50:
1329:
Shin JY, Méndez-López I, Wang Y, Hays AP, Tanji K, Lefkowitch JH, Schulze PC, Worman HJ, Dauer WT. (2013) Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.
1231:
Kondo Y, Kondoh J, Hayashi D, Ban T, Takagi M, Kamei Y, Tsuji L, Kim J, Yoneda Y (Jun 2002). "Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants".
1398:
Shin JY, Hernandez-Ono A, Fedotova T, Östlund C, Lee MJ, Gibeley SB, Liang CC, Dauer WT, Ginsberg HN, Worman HJ. (2019) Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis.
1346:
Shin JY, Le Dour C, Sera F, Iwata S, Homma S, Joseph LC, Morrow JP, Dauer WT, Worman HJ. (2014) Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice.
1381:
Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST. (2016) TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
310:
209:
780:
761:
132:
1841:
1424:"Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation"
1213:
1817:
1195:
1836:
1459:"The inner nuclear membrane protein LAP1 forms a native complex with B-type lamins and partitions with spindle-associated mitotic vesicles"
1024:
296:
1031:
1130:
1631:
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network".
273:
1316:
1182:
1161:
1178:
195:
170:
47:
1134:
1157:
309:
208:
112:
302:
201:
1810:
1102:
825:
120:
1590:"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)"
806:
1803:
1689:
1640:
1513:
184:
99:
1269:"The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein"
1007:
1003:
993:
989:
981:
977:
958:
928:
924:
895:
561:
547:
1750:
1664:
1118:
144:
1502:"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"
985:
962:
932:
903:
899:
554:
1742:
1707:
1656:
1619:
1576:
1541:
1488:
1445:
1298:
1249:
140:
92:
40:
1787:
1732:
1697:
1648:
1609:
1601:
1566:
1531:
1521:
1478:
1470:
1435:
1288:
1280:
1241:
389:
320:
264:
219:
364:
1693:
1644:
1517:
1483:
1458:
1293:
1268:
1122:
1098:
1614:
1589:
1536:
1501:
1245:
1105:
that resides in the inner nuclear membrane. The luminal domain of LAP1 interacts with
695:
690:
685:
680:
664:
659:
654:
649:
644:
639:
623:
618:
613:
608:
603:
1830:
1440:
1423:
590:
124:
1783:
1754:
1721:"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks"
1668:
382:
161:
148:
1218:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1200:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1737:
1720:
1474:
465:
281:
178:
128:
1555:"Complete sequencing and characterization of 21,243 full-length human cDNAs"
725:
525:
403:
348:
335:
247:
234:
136:
1746:
1711:
1660:
1623:
1580:
1545:
1526:
1302:
1253:
1492:
1449:
1284:
1071:
1066:
1110:
1106:
1055:
870:
851:
1702:
1677:
1652:
1113:. LAP1 plays a critical role in skeletal and heart muscle. Mutations in
1605:
1087:
837:
792:
69:
1039:
747:
1771:
1571:
1554:
1457:
Maison C, Pyrpasopoulou A, Theodoropoulos PA, Georgatos SD (1997).
1678:"The DNA sequence and biological annotation of human chromosome 1"
710:
706:
1779:
1126:
1094:
570:
116:
103:, LAP1, LAP1B, torsin 1A interacting protein 1, LGMD2Y, LAP1C
1500:
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
1125:. It's deletion from mouse hepatocytes leads to defected
372:
1791:
1588:
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
1317:"Entrez Gene: TOR1AIP1 torsin A interacting protein 1"
1676:
Gregory SG, Barlow KF, McLay KE, et al. (2006).
537:
976:
951:
917:
888:
1553:Ota T, Suzuki Y, Nishikawa T, et al. (2004).
1174:
1172:
1170:
1153:
1151:
1149:
1719:Olsen JV, Blagoev B, Gnad F, et al. (2006).
1101:associated polypeptide 1 (LAP1), it is a type II
319:
218:
16:Protein-coding gene in the species Homo sapiens
1179:GRCm38: Ensembl release 89: ENSMUSG00000026466
1811:
681:positive regulation of ATP-dependent activity
8:
1109:and is necessary for the ATPase activity of
1337:591-603. doi: 10.1016/j.devcel.2013.08.012.
1158:GRCh38: Ensembl release 89: ENSG00000143337
1818:
1804:
973:
721:
586:
426:Skeletal muscle tissue of rectus abdominis
360:
259:
156:
58:
1736:
1701:
1613:
1570:
1535:
1525:
1482:
1439:
1292:
1389:500-503. doi: 10.1016/j.nmd.2016.05.013.
696:protein localization to nuclear envelope
1145:
1372:624-33. doi: 10.1016/j.nmd.2014.04.007
18:
324:
285:
280:
223:
182:
177:
7:
1768:
1766:
1267:Goodchild RE, Dauer WT (Mar 2005).
1790:. You can help Knowledge (XXG) by
1407:4885-4900. doi: 10.1172/JCI129769.
948:
914:
885:
861:
842:
816:
797:
771:
752:
542:
460:
398:
377:
14:
1354:260-459. doi: 10.4161/nucl.29227.
1131:non-alcoholic fatty liver disease
1090:that in humans is encoded by the
1770:
560:
553:
546:
308:
301:
295:
272:
207:
200:
194:
169:
1084:Torsin-1A-interacting protein 1
691:protein localization to nucleus
640:integral component of membrane
571:More reference expression data
526:More reference expression data
1:
1842:Human chromosome 1 gene stubs
1246:10.1016/S0006-291X(02)00563-6
1135:non-alcoholic steatohepatitis
686:nuclear membrane organization
293:
192:
1506:Proc. Natl. Acad. Sci. U.S.A
1441:10.1016/0092-8674(93)90355-T
1422:Foisner R, Gerace L (1993).
1127:very-low density lipoprotein
604:cytoskeletal protein binding
414:Epithelium of choroid plexus
1837:Genes on human chromosome 1
1858:
1765:
1738:10.1016/j.cell.2006.09.026
1234:Biochem Biophys Res Commun
1214:"Mouse PubMed Reference:"
1196:"Human PubMed Reference:"
1103:integral membrane protein
1097:. More commonly known as
1070:
1065:
1061:
1054:
1038:
1032:Chr 1: 155.88 – 155.91 Mb
1025:Chr 1: 179.88 – 179.92 Mb
1019:
1000:
955:
944:
921:
892:
881:
868:
864:
849:
845:
836:
823:
819:
804:
800:
791:
778:
774:
759:
755:
746:
731:
724:
720:
704:
614:ATPase activator activity
589:
585:
568:
545:
536:
523:
472:
463:
410:
401:
371:
363:
359:
342:
329:
292:
271:
262:
258:
241:
228:
191:
168:
159:
155:
110:
107:
97:
90:
85:
66:
61:
44:
39:
34:
30:
26:
21:
1475:10.1093/emboj/16.16.4839
500:myocardium of ventricle
1527:10.1073/pnas.242603899
645:nuclear inner membrane
508:mesenteric lymph nodes
488:triceps brachii muscle
1285:10.1083/jcb.200411026
1129:secretion and causes
1117:have been linked to
287:Chromosome 1 (mouse)
185:Chromosome 1 (human)
149:TOR1AIP1 - orthologs
62:List of PDB id codes
35:Available structures
1703:10.1038/nature04727
1694:2006Natur.441..315G
1653:10.1038/nature04209
1645:2005Natur.437.1173R
1518:2002PNAS...9916899M
480:seminiferous tubule
446:germinal epithelium
1778:This article on a
1606:10.1101/gr.2596504
1383:Neuromuscul Disord
1366:Neuromuscul Disord
1119:muscular dystrophy
826:ENSMUSG00000026466
674:Biological process
633:Cellular component
597:Molecular function
504:extraocular muscle
430:tail of epididymis
1799:
1798:
1512:(26): 16899–903.
1081:
1080:
1077:
1076:
1050:
1049:
1015:
1014:
970:
969:
940:
939:
911:
910:
877:
876:
858:
857:
832:
831:
813:
812:
787:
786:
768:
767:
716:
715:
581:
580:
577:
576:
532:
531:
519:
518:
457:
456:
442:corpus epididymis
355:
354:
254:
253:
81:
80:
77:
76:
45:Ortholog search:
1849:
1820:
1813:
1806:
1774:
1767:
1758:
1740:
1715:
1705:
1688:(7091): 315–21.
1672:
1639:(7062): 1173–8.
1627:
1617:
1584:
1574:
1549:
1539:
1529:
1496:
1486:
1453:
1443:
1408:
1396:
1390:
1379:
1373:
1361:
1355:
1344:
1338:
1327:
1321:
1320:
1313:
1307:
1306:
1296:
1264:
1258:
1257:
1228:
1222:
1221:
1210:
1204:
1203:
1192:
1186:
1176:
1165:
1155:
1063:
1062:
1034:
1027:
1010:
974:
965:
949:
945:RefSeq (protein)
935:
915:
906:
886:
862:
843:
817:
798:
772:
753:
722:
665:nuclear membrane
650:nuclear envelope
587:
573:
564:
557:
550:
543:
528:
512:digastric muscle
468:
466:Top expressed in
461:
434:caput epididymis
406:
404:Top expressed in
399:
378:
361:
351:
338:
327:
312:
305:
299:
288:
276:
260:
250:
237:
226:
211:
204:
198:
187:
173:
157:
151:
102:
95:
72:
59:
53:
32:
31:
19:
1857:
1856:
1852:
1851:
1850:
1848:
1847:
1846:
1827:
1826:
1825:
1824:
1763:
1761:
1718:
1675:
1630:
1600:(10B): 2121–7.
1587:
1552:
1499:
1469:(16): 4839–50.
1456:
1421:
1417:
1415:Further reading
1412:
1411:
1397:
1393:
1380:
1376:
1362:
1358:
1345:
1341:
1328:
1324:
1315:
1314:
1310:
1266:
1265:
1261:
1230:
1229:
1225:
1212:
1211:
1207:
1194:
1193:
1189:
1177:
1168:
1156:
1147:
1142:
1072:View/Edit Mouse
1067:View/Edit Human
1030:
1023:
1020:Location (UCSC)
1006:
1002:
996:
992:
988:
984:
980:
961:
957:
931:
927:
923:
902:
898:
894:
807:ENSG00000143337
700:
669:
628:
619:protein binding
569:
559:
558:
552:
551:
524:
515:
510:
506:
502:
498:
494:
490:
486:
484:muscle of thigh
482:
478:
464:
453:
450:parietal pleura
448:
444:
440:
436:
432:
428:
424:
422:Achilles tendon
420:
416:
402:
346:
333:
325:
315:
314:
313:
306:
286:
263:Gene location (
245:
232:
224:
214:
213:
212:
205:
183:
160:Gene location (
111:
98:
91:
68:
46:
17:
12:
11:
5:
1855:
1853:
1845:
1844:
1839:
1829:
1828:
1823:
1822:
1815:
1808:
1800:
1797:
1796:
1775:
1760:
1759:
1716:
1673:
1628:
1585:
1572:10.1038/ng1285
1550:
1497:
1454:
1434:(7): 1267–79.
1418:
1416:
1413:
1410:
1409:
1391:
1374:
1356:
1339:
1322:
1308:
1259:
1223:
1205:
1187:
1166:
1144:
1143:
1141:
1138:
1123:cardiomyopathy
1079:
1078:
1075:
1074:
1069:
1059:
1058:
1052:
1051:
1048:
1047:
1045:
1043:
1036:
1035:
1028:
1021:
1017:
1016:
1013:
1012:
998:
997:
971:
968:
967:
953:
952:
946:
942:
941:
938:
937:
919:
918:
912:
909:
908:
890:
889:
883:
879:
878:
875:
874:
866:
865:
859:
856:
855:
847:
846:
840:
834:
833:
830:
829:
821:
820:
814:
811:
810:
802:
801:
795:
789:
788:
785:
784:
776:
775:
769:
766:
765:
757:
756:
750:
744:
743:
738:
733:
729:
728:
718:
717:
714:
713:
702:
701:
699:
698:
693:
688:
683:
677:
675:
671:
670:
668:
667:
662:
657:
652:
647:
642:
636:
634:
630:
629:
627:
626:
621:
616:
611:
609:ATPase binding
606:
600:
598:
594:
593:
583:
582:
579:
578:
575:
574:
566:
565:
540:
534:
533:
530:
529:
521:
520:
517:
516:
514:
513:
509:
505:
501:
497:
493:
489:
485:
481:
477:
473:
470:
469:
458:
455:
454:
452:
451:
447:
443:
439:
435:
431:
427:
423:
419:
415:
411:
408:
407:
395:
394:
386:
375:
369:
368:
365:RNA expression
357:
356:
353:
352:
344:
340:
339:
331:
328:
323:
317:
316:
307:
300:
294:
290:
289:
284:
278:
277:
269:
268:
256:
255:
252:
251:
243:
239:
238:
230:
227:
222:
216:
215:
206:
199:
193:
189:
188:
181:
175:
174:
166:
165:
153:
152:
109:
105:
104:
96:
88:
87:
83:
82:
79:
78:
75:
74:
64:
63:
55:
54:
43:
37:
36:
28:
27:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1854:
1843:
1840:
1838:
1835:
1834:
1832:
1821:
1816:
1814:
1809:
1807:
1802:
1801:
1795:
1793:
1789:
1785:
1781:
1776:
1773:
1769:
1764:
1756:
1752:
1748:
1744:
1739:
1734:
1731:(3): 635–48.
1730:
1726:
1722:
1717:
1713:
1709:
1704:
1699:
1695:
1691:
1687:
1683:
1679:
1674:
1670:
1666:
1662:
1658:
1654:
1650:
1646:
1642:
1638:
1634:
1629:
1625:
1621:
1616:
1611:
1607:
1603:
1599:
1595:
1591:
1586:
1582:
1578:
1573:
1568:
1564:
1560:
1556:
1551:
1547:
1543:
1538:
1533:
1528:
1523:
1519:
1515:
1511:
1507:
1503:
1498:
1494:
1490:
1485:
1480:
1476:
1472:
1468:
1464:
1460:
1455:
1451:
1447:
1442:
1437:
1433:
1429:
1425:
1420:
1419:
1414:
1406:
1402:
1401:J Clin Invest
1395:
1392:
1388:
1384:
1378:
1375:
1371:
1367:
1360:
1357:
1353:
1349:
1343:
1340:
1336:
1333:
1326:
1323:
1318:
1312:
1309:
1304:
1300:
1295:
1290:
1286:
1282:
1279:(6): 855–62.
1278:
1274:
1270:
1263:
1260:
1255:
1251:
1247:
1243:
1239:
1235:
1227:
1224:
1219:
1215:
1209:
1206:
1201:
1197:
1191:
1188:
1184:
1180:
1175:
1173:
1171:
1167:
1163:
1159:
1154:
1152:
1150:
1146:
1139:
1137:
1136:
1132:
1128:
1124:
1120:
1116:
1112:
1108:
1104:
1100:
1096:
1093:
1089:
1085:
1073:
1068:
1064:
1060:
1057:
1053:
1046:
1044:
1041:
1037:
1033:
1029:
1026:
1022:
1018:
1011:
1009:
1005:
999:
995:
991:
987:
983:
979:
975:
972:
966:
964:
960:
954:
950:
947:
943:
936:
934:
930:
926:
920:
916:
913:
907:
905:
901:
897:
891:
887:
884:
882:RefSeq (mRNA)
880:
873:
872:
867:
863:
860:
854:
853:
848:
844:
841:
839:
835:
828:
827:
822:
818:
815:
809:
808:
803:
799:
796:
794:
790:
783:
782:
777:
773:
770:
764:
763:
758:
754:
751:
749:
745:
742:
739:
737:
734:
730:
727:
723:
719:
712:
708:
703:
697:
694:
692:
689:
687:
684:
682:
679:
678:
676:
673:
672:
666:
663:
661:
658:
656:
653:
651:
648:
646:
643:
641:
638:
637:
635:
632:
631:
625:
624:lamin binding
622:
620:
617:
615:
612:
610:
607:
605:
602:
601:
599:
596:
595:
592:
591:Gene ontology
588:
584:
572:
567:
563:
556:
549:
544:
541:
539:
535:
527:
522:
511:
507:
503:
499:
495:
491:
487:
483:
479:
475:
474:
471:
467:
462:
459:
449:
445:
441:
437:
433:
429:
425:
421:
417:
413:
412:
409:
405:
400:
397:
396:
393:
391:
387:
385:
384:
380:
379:
376:
374:
370:
366:
362:
358:
350:
345:
341:
337:
332:
322:
318:
311:
304:
298:
291:
283:
279:
275:
270:
266:
261:
257:
249:
244:
240:
236:
231:
221:
217:
210:
203:
197:
190:
186:
180:
176:
172:
167:
163:
158:
154:
150:
146:
142:
138:
134:
130:
126:
122:
118:
114:
106:
101:
94:
89:
84:
73:
71:
65:
60:
57:
56:
52:
49:
42:
38:
33:
29:
25:
20:
1792:expanding it
1784:chromosome 1
1777:
1762:
1728:
1724:
1685:
1681:
1636:
1632:
1597:
1593:
1562:
1558:
1509:
1505:
1466:
1462:
1431:
1427:
1404:
1400:
1394:
1386:
1382:
1377:
1369:
1365:
1359:
1351:
1347:
1342:
1334:
1331:
1325:
1311:
1276:
1272:
1262:
1240:(4): 770–8.
1237:
1233:
1226:
1217:
1208:
1199:
1190:
1114:
1091:
1083:
1082:
1008:NP_001392367
1004:NP_001392366
1001:
994:NP_001392365
990:NP_001392364
982:NP_001153491
978:NP_001153490
959:NP_001254507
956:
929:NM_001160019
925:NM_001160018
922:
896:NM_001267578
893:
869:
850:
824:
805:
779:
760:
740:
735:
388:
381:
347:155,912,226
334:155,880,345
246:179,920,077
233:179,882,042
108:External IDs
67:
1565:(1): 40–5.
1273:J Cell Biol
492:granulocyte
326:1|1 G3
86:Identifiers
1831:Categories
1594:Genome Res
1559:Nat. Genet
1185:, May 2017
1164:, May 2017
1140:References
392:(ortholog)
129:HomoloGene
1782:on human
1332:Dev Cell.
986:NP_659040
963:NP_056417
933:NM_144791
904:NM_032678
900:NM_015602
726:Orthologs
476:spermatid
137:GeneCards
1747:17081983
1712:16710414
1661:16189514
1624:15489334
1581:14702039
1546:12477932
1303:15767459
1254:12061773
1181:–
1160:–
1115:TOR1AIP1
1111:Torsin A
1107:Torsin A
1092:TOR1AIP1
1056:Wikidata
705:Sources:
655:membrane
141:TOR1AIP1
100:TOR1AIP1
22:TOR1AIP1
1755:7827573
1690:Bibcode
1669:4427026
1641:Bibcode
1514:Bibcode
1493:9305626
1484:1170119
1450:8324822
1348:Nucleus
1294:2171781
1183:Ensembl
1162:Ensembl
1088:protein
838:UniProt
793:Ensembl
732:Species
711:QuickGO
660:nucleus
438:decidua
418:urethra
367:pattern
125:3582693
93:Aliases
1753:
1745:
1710:
1682:Nature
1667:
1659:
1633:Nature
1622:
1615:528928
1612:
1579:
1544:
1537:139241
1534:
1491:
1481:
1463:EMBO J
1448:
1301:
1291:
1252:
1099:lamina
1042:search
1040:PubMed
871:Q921T2
852:Q5JTV8
781:208263
748:Entrez
538:BioGPS
225:1q25.2
117:614512
1786:is a
1751:S2CID
1665:S2CID
1086:is a
762:26092
741:Mouse
736:Human
707:Amigo
496:ankle
390:Mouse
383:Human
330:Start
265:Mouse
229:Start
162:Human
1788:stub
1780:gene
1743:PMID
1725:Cell
1708:PMID
1657:PMID
1620:PMID
1577:PMID
1542:PMID
1489:PMID
1446:PMID
1428:Cell
1405:130:
1299:PMID
1250:PMID
1133:and
1121:and
1095:gene
373:Bgee
321:Band
282:Chr.
220:Band
179:Chr.
133:9208
113:OMIM
70:4TVS
51:RCSB
48:PDBe
1733:doi
1729:127
1698:doi
1686:441
1649:doi
1637:437
1610:PMC
1602:doi
1567:doi
1532:PMC
1522:doi
1479:PMC
1471:doi
1436:doi
1387:26:
1370:24:
1335:26:
1289:PMC
1281:doi
1277:168
1242:doi
1238:294
343:End
242:End
145:OMA
121:MGI
41:PDB
1833::
1749:.
1741:.
1727:.
1723:.
1706:.
1696:.
1684:.
1680:.
1663:.
1655:.
1647:.
1635:.
1618:.
1608:.
1598:14
1596:.
1592:.
1575:.
1563:36
1561:.
1557:.
1540:.
1530:.
1520:.
1510:99
1508:.
1504:.
1487:.
1477:.
1467:16
1465:.
1461:.
1444:.
1432:73
1430:.
1426:.
1403:.
1385:.
1368:.
1352:5:
1350:.
1297:.
1287:.
1275:.
1271:.
1248:.
1236:.
1216:.
1198:.
1169:^
1148:^
709:/
349:bp
336:bp
248:bp
235:bp
143:;
139::
135:;
131::
127:;
123::
119:;
115::
1819:e
1812:t
1805:v
1794:.
1757:.
1735::
1714:.
1700::
1692::
1671:.
1651::
1643::
1626:.
1604::
1583:.
1569::
1548:.
1524::
1516::
1495:.
1473::
1452:.
1438::
1319:.
1305:.
1283::
1256:.
1244::
1220:.
1202:.
267:)
164:)
147::
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.