Knowledge (XXG)

TOR1AIP1

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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.
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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.
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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".
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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.
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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.
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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::

Index

PDB
PDBe
RCSB
4TVS
Aliases
TOR1AIP1
OMIM
614512
MGI
3582693
HomoloGene
9208
GeneCards
TOR1AIP1
OMA
TOR1AIP1 - orthologs
Human
Chromosome 1 (human)
Chr.
Chromosome 1 (human)
Chromosome 1 (human)
Genomic location for TOR1AIP1
Genomic location for TOR1AIP1
Band
bp
bp
Mouse
Chromosome 1 (mouse)
Chr.
Chromosome 1 (mouse)

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