Knowledge

FANC proteins

Source 📝

179:
has methods to repair at every stage of the cell cycle. There are multiple different repair pathways but the FA pathway is the one that involves the FANC proteins. When cross-link is detected, then the ataxia-telangiectasia and RAD3-related protein will mediate the phosphorylation (P) of the FA core complex. This phosphorylated FA core complex is what is required to have a successful monoubiquitination of the two components that form the FANCI–D2 complex. Each of the proteins of the FA core complex are needed for this phosphorylation step except for FANCM. When a typical cell senses DNA damage it targets the monoubiquitinated isoform of FANCI–D2 to the chromatid with DNA damage, which is the cross-link. Studies have also shown that there is a connection between the FA DNA repair pathway and stem cell regulation but it is still unclear. FANC proteins also play a role in redox signaling and repair of oxidative DNA damages. Recent studies have dove into the FANC protein, FANCJ, and its enzymatic function along with its roles in repair. Other studies have shown the correlation between the FANC pathway and multiple other protein post translational modifications from ubiquitin-like families.
188:
proteins has been associated with a range of conditions, including the rendering of cell hypersensitivity to a type of DNA damage known as DNA interstrand cross-links (ICL) and defective DNA repair. FANC protein mutations have also lead to reduced fertility and predisposition to cancers like breast cancer and myeloid leukaemia. FANC proteins FANCD1 (BRCA2), FANCJ (BRIP), and FANCN (PALB2) have even been identified as the breast cancer susceptibility proteins. If a cell were to lack the FANC gene to code for these proteins then the cell would show a hypersensitive phenotype following H2O2 treatment.
1352: 1376: 187:
A mutation in 13 FANC genes can result in Fanconi anemia (FA), which is a cancer-prone chromosome instability disorder. Fanconi anemia occurs when there is a biallelic mutation that inactivates the genes that are in charge of the replication stress associated DNA damage response. Dysfunction of FANC
84:
and the accessory proteins (FAAP20, FAAP24, and FAAP100). These accessory proteins are also called Fanconi anemia associated proteins (FAAPs). There is also a group called the anchor complex which consists of FANCM, FAAP24, MHF1 (FAAP16/ CENP-S), and MHF2 (FAAP10/ CENP-X). The FANC proteins that are
178:
and damage response. FANC proteins are also in charge of repairing complex DNA interstrand cross-linking lesions and maintaining the genomic stability during DNA replication. DNA cross-linking is what hinders transcription and replication from occurring in the cell so it is important that the cell
43:
The FA genes that code for the FANC proteins are a part of the caretaker group of cancer genes that prevent the buildup of mutations and chromosome abnormalities. The multiple FANC proteins come together to add up to the FANC/BRCA pathway.
34:
Fanconi anemia was first described in 1927 by Guido Fanconi, a Swiss pediatrician. It is a chromosome instability syndrome characterized by the progressiveness of bone marrow failure and of cancer proneness.
52:
There are a large number of FANC proteins that participate in the FA pathway. It has a nuclear complex also known as the ‘FA core complex’ which is formed by the interaction of
566: 1285: 116: 536: 341:
Naim V, Rosselli F (June 2009). "The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities".
1417: 1259: 395: 920: 975: 1228: 1159: 427:"Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: Mechanistic insights" 1243: 808: 1218: 1125: 1410: 1147: 971: 964: 1441: 1142: 1064: 913: 328: 1446: 1254: 1164: 959: 1403: 1020: 945: 763: 855:"BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks" 1436: 1355: 1042: 906: 652: 789: 633: 366: 1238: 884: 828: 781: 722: 674: 625: 456: 391: 385: 358: 700: 874: 866: 820: 771: 712: 701:"Oxidative Stress/Damage Induces Multimerization and Interaction of Fanconi Anemia Proteins" 664: 615: 446: 438: 350: 263: 22:
are a network of at least 15 proteins that are associated with a cell process known as the
954: 175: 324: 767: 1387: 451: 426: 23: 879: 854: 1430: 1087: 793: 197: 637: 1233: 1202: 1152: 1135: 1082: 1035: 370: 442: 824: 1169: 990: 937: 929: 870: 776: 751: 888: 832: 785: 726: 717: 678: 629: 460: 362: 752:"FAN1 Acts with FANCI-FANCD2 to Promote DNA Interstrand Cross-Link Repair" 1250: 669: 620: 603: 221: 1383: 1197: 949: 1375: 1322: 1077: 1030: 1025: 431:
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
298: 147: 86: 354: 387:
Primary immunodeficiency diseases: a molecular and genetic approach
1337: 1332: 1327: 1317: 1310: 1305: 1300: 1295: 1290: 1280: 1275: 1130: 1094: 1015: 1010: 1005: 995: 291: 284: 277: 249: 207: 163: 159: 155: 151: 143: 136: 132: 128: 124: 120: 112: 108: 94: 90: 81: 77: 73: 69: 65: 61: 57: 53: 1223: 1179: 1174: 1109: 1104: 1099: 1072: 1052: 1047: 1000: 305: 256: 242: 235: 228: 214: 902: 985: 980: 270: 898: 203:
FANC proteins are required to promote BLM-mediated anaphase.
809:"The ubiquitin family meets the Fanconi anemia proteins" 384:
Hans D. Ochs; C. I. Edvard Smith; Jennifer Puck (2007).
1391: 653:"The FANC pathway and mitosis: a replication legacy" 604:"The FANC pathway and mitosis: A replication legacy" 1211: 1190: 1118: 1063: 936: 813:Mutation Research/Reviews in Mutation Research 1411: 914: 390:. Oxford University Press US. pp. 431–. 8: 1418: 1404: 921: 907: 899: 878: 775: 716: 668: 619: 450: 327:at the U.S. National Library of Medicine 317: 745: 743: 651:Naim V, Rosselli F (September 2009). 530: 528: 526: 524: 522: 520: 518: 516: 514: 512: 510: 508: 506: 504: 502: 500: 498: 496: 494: 492: 490: 276:FANC protein FANCD1 is also known as 7: 1372: 1370: 694: 692: 690: 688: 597: 595: 593: 591: 589: 587: 561: 559: 557: 488: 486: 484: 482: 480: 478: 476: 474: 472: 470: 420: 418: 416: 414: 304:FANC protein FANCP is also known as 297:FANC protein FANCO is also known as 290:FANC protein FANCN is also known as 283:FANC protein FANCJ is also known as 705:The Journal of Biological Chemistry 85:not a part of the core complex are 1229:Proliferating Cell Nuclear Antigen 1160:Microhomology-mediated end joining 248:FANC proteins also interacts with 241:FANC proteins also interacts with 234:FANC proteins also interacts with 227:FANC proteins also interacts with 220:FANC proteins also interacts with 213:FANC proteins also interacts with 206:FANC proteins also interacts with 14: 1374: 1351: 1350: 1244:Meiotic recombination checkpoint 1: 269:FANCC protein interactS with 262:FANCC protein interacts with 255:FANCC protein interacts with 196:FANC proteins are related to 1390:. You can help Knowledge by 1126:Transcription-coupled repair 443:10.1016/j.mrfmmm.2009.02.003 825:10.1016/j.mrrev.2016.06.004 1463: 1369: 1148:Non-homologous end joining 972:Nucleotide excision repair 965:Poly ADP ribose polymerase 853:Pichierri, Pietro (2004). 1346: 807:Renaudin, Xavier (2016). 1143:Homology directed repair 1065:Homologous recombination 871:10.1038/sj.emboj.7600277 537:"Fanconi Anemia Protein" 425:Thompson, Larry (2009). 329:Medical Subject Headings 192:Similar/ Related Protein 777:10.1126/science.1192656 1386:-related article is a 1165:Postreplication repair 960:Uracil-DNA glycosylase 718:10.1074/jbc.M403527200 699:Park, Su-Jung (2004). 602:Naim, Valeria (2009). 174:They are involved in 1271:core protein complex 946:Base excision repair 670:10.4161/cc.8.18.9538 621:10.4161/cc.8.18.9538 105:core protein complex 100:Components include: 1043:DNA mismatch repair 768:2010Sci...329..693L 711:(29): 30053–30059. 750:Ting, Liu (2010). 1399: 1398: 1364: 1363: 1239:Adaptive response 865:(15): 3154–3163. 762:(5992): 693–696. 614:(18): 2907–2912. 397:978-0-19-514774-2 16:Group of proteins 1454: 1442:Protein families 1420: 1413: 1406: 1378: 1371: 1354: 1353: 923: 916: 909: 900: 893: 892: 882: 859:The EMBO Journal 850: 844: 843: 841: 839: 804: 798: 797: 779: 747: 738: 737: 735: 733: 720: 696: 683: 682: 672: 648: 642: 641: 623: 599: 582: 581: 579: 577: 563: 552: 551: 549: 547: 532: 465: 464: 454: 422: 409: 408: 406: 404: 381: 375: 374: 338: 332: 322: 1462: 1461: 1457: 1456: 1455: 1453: 1452: 1451: 1427: 1426: 1425: 1424: 1367: 1365: 1360: 1342: 1212:Other/ungrouped 1207: 1186: 1114: 1059: 955:DNA glycosylase 938:Excision repair 932: 927: 897: 896: 852: 851: 847: 837: 835: 806: 805: 801: 749: 748: 741: 731: 729: 698: 697: 686: 663:(18): 2907–11. 650: 649: 645: 601: 600: 585: 575: 573: 565: 564: 555: 545: 543: 534: 533: 468: 424: 423: 412: 402: 400: 398: 383: 382: 378: 355:10.1038/ncb1883 340: 339: 335: 323: 319: 314: 194: 185: 176:DNA replication 172: 50: 41: 32: 17: 12: 11: 5: 1460: 1458: 1450: 1449: 1444: 1439: 1429: 1428: 1423: 1422: 1415: 1408: 1400: 1397: 1396: 1379: 1362: 1361: 1359: 1358: 1347: 1344: 1343: 1341: 1340: 1335: 1330: 1325: 1320: 1315: 1314: 1313: 1308: 1303: 1298: 1293: 1288: 1283: 1278: 1263: 1262: 1257: 1247: 1246: 1241: 1236: 1231: 1226: 1221: 1215: 1213: 1209: 1208: 1206: 1205: 1200: 1194: 1192: 1188: 1187: 1185: 1184: 1183: 1182: 1177: 1167: 1162: 1157: 1156: 1155: 1145: 1140: 1139: 1138: 1133: 1122: 1120: 1119:Other pathways 1116: 1115: 1113: 1112: 1107: 1102: 1097: 1092: 1091: 1090: 1080: 1075: 1069: 1067: 1061: 1060: 1058: 1057: 1056: 1055: 1050: 1040: 1039: 1038: 1033: 1028: 1023: 1018: 1013: 1008: 1003: 998: 993: 988: 983: 969: 968: 967: 962: 957: 942: 940: 934: 933: 928: 926: 925: 918: 911: 903: 895: 894: 845: 799: 739: 684: 643: 583: 553: 541:Science Direct 466: 437:(1–2): 54–72. 410: 396: 376: 343:Nat. Cell Biol 333: 316: 315: 313: 310: 193: 190: 184: 181: 171: 168: 167: 166: 140: 49: 46: 40: 37: 31: 28: 24:Fanconi anemia 15: 13: 10: 9: 6: 4: 3: 2: 1459: 1448: 1447:Protein stubs 1445: 1443: 1440: 1438: 1435: 1434: 1432: 1421: 1416: 1414: 1409: 1407: 1402: 1401: 1395: 1393: 1389: 1385: 1380: 1377: 1373: 1368: 1357: 1349: 1348: 1345: 1339: 1336: 1334: 1331: 1329: 1326: 1324: 1321: 1319: 1316: 1312: 1309: 1307: 1304: 1302: 1299: 1297: 1294: 1292: 1289: 1287: 1284: 1282: 1279: 1277: 1274: 1273: 1272: 1268: 1267:FANC proteins 1265: 1264: 1261: 1258: 1256: 1252: 1249: 1248: 1245: 1242: 1240: 1237: 1235: 1232: 1230: 1227: 1225: 1222: 1220: 1217: 1216: 1214: 1210: 1204: 1201: 1199: 1196: 1195: 1193: 1189: 1181: 1178: 1176: 1173: 1172: 1171: 1168: 1166: 1163: 1161: 1158: 1154: 1151: 1150: 1149: 1146: 1144: 1141: 1137: 1134: 1132: 1129: 1128: 1127: 1124: 1123: 1121: 1117: 1111: 1108: 1106: 1103: 1101: 1098: 1096: 1093: 1089: 1088:RecQ helicase 1086: 1085: 1084: 1081: 1079: 1076: 1074: 1071: 1070: 1068: 1066: 1062: 1054: 1051: 1049: 1046: 1045: 1044: 1041: 1037: 1034: 1032: 1029: 1027: 1024: 1022: 1019: 1017: 1014: 1012: 1009: 1007: 1004: 1002: 999: 997: 994: 992: 989: 987: 984: 982: 979: 978: 977: 973: 970: 966: 963: 961: 958: 956: 953: 952: 951: 947: 944: 943: 941: 939: 935: 931: 924: 919: 917: 912: 910: 905: 904: 901: 890: 886: 881: 876: 872: 868: 864: 860: 856: 849: 846: 834: 830: 826: 822: 818: 814: 810: 803: 800: 795: 791: 787: 783: 778: 773: 769: 765: 761: 757: 753: 746: 744: 740: 728: 724: 719: 714: 710: 706: 702: 695: 693: 691: 689: 685: 680: 676: 671: 666: 662: 658: 654: 647: 644: 639: 635: 631: 627: 622: 617: 613: 609: 605: 598: 596: 594: 592: 590: 588: 584: 572: 568: 562: 560: 558: 554: 542: 538: 531: 529: 527: 525: 523: 521: 519: 517: 515: 513: 511: 509: 507: 505: 503: 501: 499: 497: 495: 493: 491: 489: 487: 485: 483: 481: 479: 477: 475: 473: 471: 467: 462: 458: 453: 448: 444: 440: 436: 432: 428: 421: 419: 417: 415: 411: 399: 393: 389: 388: 380: 377: 372: 368: 364: 360: 356: 352: 348: 344: 337: 334: 330: 326: 325:FANC+Proteins 321: 318: 311: 309: 307: 302: 300: 295: 293: 288: 286: 281: 279: 274: 272: 267: 265: 260: 258: 253: 251: 246: 244: 239: 237: 232: 230: 225: 223: 218: 216: 211: 209: 204: 201: 199: 191: 189: 182: 180: 177: 169: 165: 161: 157: 153: 149: 145: 141: 138: 134: 130: 126: 122: 118: 114: 110: 106: 103: 102: 101: 98: 96: 92: 88: 83: 79: 75: 71: 67: 63: 59: 55: 47: 45: 38: 36: 29: 27: 25: 21: 20:FANC proteins 1392:expanding it 1381: 1366: 1270: 1266: 1251:DNA helicase 1234:8-Oxoguanine 1203:SOS response 1083:RecF pathway 1036:Excinuclease 862: 858: 848: 836:. Retrieved 816: 812: 802: 759: 755: 730:. Retrieved 708: 704: 660: 656: 646: 611: 607: 574:. Retrieved 570: 567:"FANCA gene" 544:. Retrieved 540: 434: 430: 401:. Retrieved 386: 379: 349:(6): 761–8. 346: 342: 336: 320: 303: 296: 289: 282: 275: 268: 261: 254: 247: 240: 233: 226: 219: 212: 205: 202: 195: 186: 183:Pathogenesis 173: 104: 99: 51: 42: 33: 19: 18: 838:28 November 732:28 November 576:28 November 571:Medlineplus 546:28 November 403:21 December 1437:DNA repair 1431:Categories 1191:Regulation 1170:Photolyase 930:DNA repair 657:Cell Cycle 608:Cell Cycle 535:Gupta, S. 312:References 48:Components 39:Properties 1011:XPG/ERCC5 996:XPD/ERCC2 819:: 36–46. 794:206527789 1356:Category 1006:XPF/DDB1 1001:XPE/DDB1 889:15257300 833:27543315 786:20671156 727:15138265 679:19729998 638:37042438 630:19729998 461:19622404 363:19465921 222:DNA-PKcs 170:Function 1384:protein 1198:SOS box 950:AP site 764:Bibcode 756:Science 452:2714807 142:other: 30:History 1323:FANCD2 1318:FANCD1 1078:RecBCD 1031:RAD23B 1026:RAD23A 887:  880:514912 877:  831:  792:  784:  725:  677:  636:  628:  459:  449:  394:  371:330040 369:  361:  331:(MeSH) 299:RAD51C 148:FANCD2 144:FANCD1 93:, and 87:FANCD1 1382:This 1338:FANCN 1333:FANCJ 1328:FANCI 1311:FANCM 1306:FANCL 1301:FANCG 1296:FANCF 1291:FANCE 1286:FANCC 1281:FANCB 1276:FANCA 1136:ERCC8 1131:ERCC6 1095:RAD51 1016:ERCC1 790:S2CID 634:S2CID 367:S2CID 292:PALB2 285:BRIP1 278:BRCA2 208:BRCA1 164:FANCP 160:FANCN 156:FANCJ 152:FANCI 137:FANCM 133:FANCL 129:FANCG 125:FANCF 121:FANCE 117:FANCC 113:FANCB 109:FANCA 95:FANCN 91:FANCJ 82:FANCM 78:FANCL 74:FANCG 70:FANCF 66:FANCE 62:FANCC 58:FANCB 54:FANCA 1388:stub 1224:PcrA 1180:CRY2 1175:CRY1 1110:LexA 1105:Slx4 1100:Sgs1 1073:RecA 1053:MSH2 1048:MLH1 976:ERCC 885:PMID 840:2023 829:PMID 782:PMID 734:2023 723:PMID 675:PMID 626:PMID 578:2023 548:2023 457:PMID 405:2010 392:ISBN 359:PMID 306:SLX4 257:cdc2 243:FAN1 236:Ku80 229:Ku70 215:LIG4 198:BRCA 26:. 1260:WRN 1255:BLM 1219:Ogt 1021:RPA 991:XPC 986:XPB 981:XPA 875:PMC 867:doi 821:doi 817:769 772:doi 760:329 713:doi 709:279 665:doi 616:doi 447:PMC 439:doi 435:668 351:doi 273:. 271:p53 266:. 264:PKR 252:. 250:XPF 1433:: 1269:: 1253:: 1153:Ku 883:. 873:. 863:23 861:. 857:. 827:. 815:. 811:. 788:. 780:. 770:. 758:. 754:. 742:^ 721:. 707:. 703:. 687:^ 673:. 659:. 655:. 632:. 624:. 610:. 606:. 586:^ 569:. 556:^ 539:. 469:^ 455:. 445:. 433:. 429:. 413:^ 365:. 357:. 347:11 345:. 308:. 301:. 294:. 287:. 280:. 259:. 245:. 238:. 231:. 224:. 217:. 210:. 200:. 162:, 158:, 154:, 150:, 146:, 135:, 131:, 127:, 123:, 119:, 115:, 111:, 97:. 89:, 80:, 76:, 72:, 68:, 64:, 60:, 56:, 1419:e 1412:t 1405:v 1394:. 974:/ 948:/ 922:e 915:t 908:v 891:. 869:: 842:. 823:: 796:. 774:: 766:: 736:. 715:: 681:. 667:: 661:8 640:. 618:: 612:8 580:. 550:. 463:. 441:: 407:. 373:. 353:: 139:) 107:(

Index

Fanconi anemia
FANCA
FANCB
FANCC
FANCE
FANCF
FANCG
FANCL
FANCM
FANCD1
FANCJ
FANCN
FANCA
FANCB
FANCC
FANCE
FANCF
FANCG
FANCL
FANCM
FANCD1
FANCD2
FANCI
FANCJ
FANCN
FANCP
DNA replication
BRCA
BRCA1
LIG4

Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.