242:
219:
116:
141:
500:
493:
248:
147:
1653:
1104:
BPAN typically causes developmental delay and epilepsy from early childhood. An unusual feature experienced by many is a tendency to overeat without feeling full. Diagnosis might be suggested by the combination of developmental delay, epilepsy, and no satiety response. A pattern of abnormality on MRI
1064:
protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including
1100:
were identified by exome sequencing in 20 patients with progressive neurodegeneration and evidence of iron on brain MRI scans. The mutations cause an X-linked dominant form of brain iron accumulation disorder now called Beta-propeller protein-associated neurodegeneration (BPAN). A name for the
1462:
Proikas-Cezanne T, Waddell S, Gaugel A, Frickey T, Lupas A, Nordheim A (December 2004). "WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy".
1084:
has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined.
1588:
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library".
1344:
This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration.
1543:
Clark AG, Glanowski S, Nielsen R, Thomas PD, Kejariwal A, Todd MA, et al. (December 2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios".
255:
154:
1101:
disease before the gene was identified was called static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), though this term is no longer used.
1044:
733:
714:
77:
1617:
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides".
1726:
1702:
1205:
1187:
1721:
241:
969:
1113:, with later accumulation of iron in the globus pallidus and substantia nigra. Diagnosis is usually established by genetic testing.
218:
1285:
976:
1174:
1153:
1170:
140:
115:
1149:
57:
254:
153:
1306:"Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA"
247:
146:
1695:
778:
65:
1412:"Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration"
759:
1116:
There are no current treatments for BPAN, though medications and therapies can be used to treat symptoms.
1361:"Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation"
1223:
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002).
1688:
1552:
1236:
919:
129:
44:
1410:
Papandreou, A.; Soo, A. K. S.; Spaull, R.; Mankad, K.; Kurian, M. A.; Sudhakar, S. (December 2022).
1125:
1070:
948:
944:
940:
911:
881:
877:
873:
852:
1576:
1488:
1304:
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, et al. (December 2012).
89:
1225:"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"
952:
915:
885:
848:
1634:
1605:
1568:
1531:
1480:
1439:
1431:
1392:
1335:
1264:
499:
37:
1672:
1626:
1597:
1560:
1521:
1513:
1472:
1423:
1382:
1372:
1325:
1317:
1254:
1244:
334:
265:
209:
164:
492:
85:
1110:
309:
1556:
1240:
1387:
1360:
1330:
1305:
1601:
1526:
1501:
1259:
1224:
648:
643:
638:
633:
628:
623:
618:
602:
597:
592:
587:
582:
566:
561:
556:
551:
546:
541:
1715:
1630:
1106:
528:
1492:
69:
1664:
1580:
327:
106:
93:
1502:"PtdIns-specific MPR pathway association of a novel WD40 repeat protein, WIPI49"
1210:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1192:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1321:
1229:
Proceedings of the
National Academy of Sciences of the United States of America
410:
1066:
226:
123:
73:
1435:
1564:
1517:
1411:
1074:
1061:
678:
470:
348:
293:
280:
192:
179:
81:
1572:
1535:
1484:
1476:
1443:
1396:
1339:
1268:
1249:
1638:
1609:
1016:
1011:
1359:
Spaull RV, Soo AK, Hogarth P, Hayflick SJ, Kurian MA (24 November 2021).
1000:
823:
804:
1668:
1427:
1032:
790:
745:
1377:
984:
700:
1652:
663:
659:
1660:
1039:
508:
61:
48:, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4, JM5, WD repeat domain 45
1500:
Jeffries TR, Dove SK, Michell RH, Parker PJ (June 2004).
317:
1676:
1029:
WD repeat domain phosphoinositide-interacting protein 4
482:
1050:
Beta-propeller protein-associated neurodegeneration
933:
904:
866:
841:
1166:
1164:
1162:
1145:
1143:
1141:
1042:. Mutations in this gene cause a distinct form of
264:
163:
634:protein localization to phagophore assembly site
1299:
1297:
1295:
1171:GRCm38: Ensembl release 89: ENSMUSG00000039382
1045:Neurodegeneration with brain iron accumulation
1696:
547:phosphatidylinositol-3,5-bisphosphate binding
8:
1354:
1352:
1150:GRCh38: Ensembl release 89: ENSG00000196998
1109:(globus pallidus and substantia nigra) and
1703:
1689:
674:
524:
305:
204:
101:
1525:
1386:
1376:
1329:
1258:
1248:
1416:AJNR. American Journal of Neuroradiology
1286:"Entrez Gene: WDR45 WD repeat domain 45"
1280:
1278:
1105:brain scans shows early swelling of the
542:phosphatidylinositol-3-phosphate binding
1365:Tremor and Other Hyperkinetic Movements
1137:
562:phosphatidylinositol phosphate binding
18:
269:
230:
225:
168:
127:
122:
7:
1649:
1647:
1675:. You can help Knowledge (XXG) by
1310:American Journal of Human Genetics
930:
901:
863:
838:
814:
795:
769:
750:
724:
705:
487:
405:
343:
322:
14:
1035:that in humans is encoded by the
588:phagophore assembly site membrane
1651:
498:
491:
253:
246:
240:
217:
152:
145:
139:
114:
649:cellular response to starvation
593:extrinsic component of membrane
1096:loss of function mutations in
509:More reference expression data
471:More reference expression data
1:
1727:Human chromosome X gene stubs
1602:10.1016/S0378-1119(97)00411-3
1506:Molecular Biology of the Cell
238:
137:
16:Protein-coding gene in humans
1631:10.1016/0378-1119(94)90802-8
1722:Genes on human chromosome X
387:right lobe of thyroid gland
1743:
1646:
1322:10.1016/j.ajhg.2012.10.019
1060:WIPI-4 is a member of the
624:autophagy of mitochondrion
391:left lobe of thyroid gland
1206:"Mouse PubMed Reference:"
1188:"Human PubMed Reference:"
1015:
1010:
1006:
999:
983:
964:
937:
908:
897:
870:
845:
834:
821:
817:
802:
798:
789:
776:
772:
757:
753:
744:
731:
727:
712:
708:
699:
684:
677:
673:
657:
527:
523:
506:
490:
481:
468:
417:
408:
355:
346:
316:
308:
304:
287:
274:
237:
216:
207:
203:
186:
173:
136:
113:
104:
100:
55:
52:
42:
35:
30:
26:
21:
1077:, and gene regulation.
598:phagophore assembly site
1565:10.1126/science.1088821
1518:10.1091/mbc.E03-10-0732
1667:and/or its associated
1477:10.1038/sj.onc.1208331
1250:10.1073/pnas.242603899
970:Chr X: 49.07 – 49.1 Mb
644:autophagosome assembly
557:protein kinase binding
453:superior frontal gyrus
437:neural layer of retina
977:Chr X: 7.71 – 7.73 Mb
271:X A1.1|X 3.48 cM
639:autophagy of nucleus
375:right adrenal cortex
232:X chromosome (mouse)
130:X chromosome (human)
1557:2003Sci...302.1960C
1551:(5652): 1960–1963.
1241:2002PNAS...9916899M
1235:(26): 16899–16903.
1126:WIPI protein family
1071:signal transduction
383:canal of the cervix
379:left adrenal cortex
371:right adrenal gland
1659:This article on a
1428:10.3174/ajnr.A7693
779:ENSMUSG00000039382
629:protein lipidation
612:Biological process
576:Cellular component
535:Molecular function
1684:
1683:
1471:(58): 9314–9325.
1422:(12): 1810–1814.
1026:
1025:
1022:
1021:
995:
994:
960:
959:
927:
926:
893:
892:
860:
859:
830:
829:
811:
810:
785:
784:
766:
765:
740:
739:
721:
720:
669:
668:
519:
518:
515:
514:
477:
476:
464:
463:
402:
401:
300:
299:
199:
198:
94:WDR45 - orthologs
1734:
1705:
1698:
1691:
1655:
1648:
1642:
1625:(1–2): 171–174.
1613:
1596:(1–2): 149–156.
1584:
1539:
1529:
1512:(6): 2652–2663.
1496:
1448:
1447:
1407:
1401:
1400:
1390:
1380:
1378:10.5334/tohm.661
1356:
1347:
1346:
1333:
1316:(6): 1144–1149.
1301:
1290:
1289:
1282:
1273:
1272:
1262:
1252:
1220:
1214:
1213:
1202:
1196:
1195:
1184:
1178:
1168:
1157:
1147:
1008:
1007:
979:
972:
955:
931:
922:
902:
898:RefSeq (protein)
888:
864:
855:
839:
815:
796:
770:
751:
725:
706:
675:
525:
511:
502:
495:
488:
473:
413:
411:Top expressed in
406:
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:
1742:
1741:
1737:
1736:
1735:
1733:
1732:
1731:
1712:
1711:
1710:
1709:
1645:
1616:
1587:
1542:
1499:
1461:
1457:
1455:Further reading
1452:
1451:
1409:
1408:
1404:
1358:
1357:
1350:
1303:
1302:
1293:
1284:
1283:
1276:
1222:
1221:
1217:
1204:
1203:
1199:
1186:
1185:
1181:
1169:
1160:
1148:
1139:
1134:
1122:
1111:dentate nucleus
1091:
1089:Role in disease
1058:
1017:View/Edit Mouse
1012:View/Edit Human
975:
968:
965:Location (UCSC)
951:
947:
943:
939:
918:
914:
910:
884:
880:
876:
872:
851:
847:
760:ENSG00000196998
653:
607:
571:
552:protein binding
507:
497:
496:
469:
460:
455:
451:
449:muscle of thigh
447:
443:
441:right lung lobe
439:
435:
431:
427:
423:
409:
398:
395:body of stomach
393:
389:
385:
381:
377:
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:
1740:
1738:
1730:
1729:
1724:
1714:
1713:
1708:
1707:
1700:
1693:
1685:
1682:
1681:
1656:
1644:
1643:
1614:
1585:
1540:
1497:
1458:
1456:
1453:
1450:
1449:
1402:
1348:
1291:
1274:
1215:
1197:
1179:
1158:
1136:
1135:
1133:
1130:
1129:
1128:
1121:
1118:
1090:
1087:
1057:
1054:
1048:(NBIA) called
1031:(WIPI-4) is a
1024:
1023:
1020:
1019:
1014:
1004:
1003:
997:
996:
993:
992:
990:
988:
981:
980:
973:
966:
962:
961:
958:
957:
935:
934:
928:
925:
924:
920:NP_001025067.1
906:
905:
899:
895:
894:
891:
890:
868:
867:
861:
858:
857:
843:
842:
836:
832:
831:
828:
827:
819:
818:
812:
809:
808:
800:
799:
793:
787:
786:
783:
782:
774:
773:
767:
764:
763:
755:
754:
748:
742:
741:
738:
737:
729:
728:
722:
719:
718:
710:
709:
703:
697:
696:
691:
686:
682:
681:
671:
670:
667:
666:
655:
654:
652:
651:
646:
641:
636:
631:
626:
621:
615:
613:
609:
608:
606:
605:
600:
595:
590:
585:
579:
577:
573:
572:
570:
569:
564:
559:
554:
549:
544:
538:
536:
532:
531:
521:
520:
517:
516:
513:
512:
504:
503:
485:
479:
478:
475:
474:
466:
465:
462:
461:
459:
458:
454:
450:
446:
442:
438:
434:
430:
429:left lung lobe
426:
422:
418:
415:
414:
403:
400:
399:
397:
396:
392:
388:
384:
380:
376:
372:
368:
364:
363:gastric mucosa
360:
356:
353:
352:
340:
339:
331:
320:
314:
313:
310:RNA expression
302:
301:
298:
297:
289:
285:
284:
276:
273:
268:
262:
261:
252:
245:
239:
235:
234:
229:
223:
222:
214:
213:
201:
200:
197:
196:
188:
184:
183:
175:
172:
167:
161:
160:
151:
144:
138:
134:
133:
126:
120:
119:
111:
110:
98:
97:
54:
50:
49:
41:
33:
32:
28:
27:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1739:
1728:
1725:
1723:
1720:
1719:
1717:
1706:
1701:
1699:
1694:
1692:
1687:
1686:
1680:
1678:
1674:
1670:
1666:
1663:on the human
1662:
1657:
1654:
1650:
1640:
1636:
1632:
1628:
1624:
1620:
1615:
1611:
1607:
1603:
1599:
1595:
1591:
1586:
1582:
1578:
1574:
1570:
1566:
1562:
1558:
1554:
1550:
1546:
1541:
1537:
1533:
1528:
1523:
1519:
1515:
1511:
1507:
1503:
1498:
1494:
1490:
1486:
1482:
1478:
1474:
1470:
1466:
1460:
1459:
1454:
1445:
1441:
1437:
1433:
1429:
1425:
1421:
1417:
1413:
1406:
1403:
1398:
1394:
1389:
1384:
1379:
1374:
1370:
1366:
1362:
1355:
1353:
1349:
1345:
1341:
1337:
1332:
1327:
1323:
1319:
1315:
1311:
1307:
1300:
1298:
1296:
1292:
1287:
1281:
1279:
1275:
1270:
1266:
1261:
1256:
1251:
1246:
1242:
1238:
1234:
1230:
1226:
1219:
1216:
1211:
1207:
1201:
1198:
1193:
1189:
1183:
1180:
1176:
1172:
1167:
1165:
1163:
1159:
1155:
1151:
1146:
1144:
1142:
1138:
1131:
1127:
1124:
1123:
1119:
1117:
1114:
1112:
1108:
1107:basal ganglia
1102:
1099:
1095:
1088:
1086:
1083:
1078:
1076:
1072:
1069:progression,
1068:
1063:
1055:
1053:
1051:
1047:
1046:
1041:
1038:
1034:
1030:
1018:
1013:
1009:
1005:
1002:
998:
991:
989:
986:
982:
978:
974:
971:
967:
963:
956:
954:
950:
946:
942:
936:
932:
929:
923:
921:
917:
913:
907:
903:
900:
896:
889:
887:
883:
879:
875:
869:
865:
862:
856:
854:
850:
844:
840:
837:
835:RefSeq (mRNA)
833:
826:
825:
820:
816:
813:
807:
806:
801:
797:
794:
792:
788:
781:
780:
775:
771:
768:
762:
761:
756:
752:
749:
747:
743:
736:
735:
730:
726:
723:
717:
716:
711:
707:
704:
702:
698:
695:
692:
690:
687:
683:
680:
676:
672:
665:
661:
656:
650:
647:
645:
642:
640:
637:
635:
632:
630:
627:
625:
622:
620:
617:
616:
614:
611:
610:
604:
601:
599:
596:
594:
591:
589:
586:
584:
581:
580:
578:
575:
574:
568:
567:lipid binding
565:
563:
560:
558:
555:
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:
359:apex of heart
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:
1677:expanding it
1665:X chromosome
1658:
1622:
1618:
1593:
1589:
1548:
1544:
1509:
1505:
1468:
1464:
1419:
1415:
1405:
1368:
1364:
1343:
1313:
1309:
1232:
1228:
1218:
1209:
1200:
1191:
1182:
1115:
1103:
1097:
1093:
1092:
1081:
1079:
1059:
1049:
1043:
1036:
1028:
1027:
949:NP_001277724
945:NP_001277723
941:NP_001277721
938:
912:NP_001025067
909:
882:NM_001290795
878:NM_001290794
874:NM_001290792
871:
853:NM_001029896
846:
822:
803:
777:
758:
732:
713:
693:
688:
445:right kidney
333:
326:
53:External IDs
433:granulocyte
367:granulocyte
191:49,101,170
178:49,074,433
31:Identifiers
1716:Categories
1177:, May 2017
1156:, May 2017
1132:References
1080:This gene
1067:cell cycle
337:(ortholog)
292:7,728,206
279:7,714,333
74:HomoloGene
1436:1936-959X
1371:(1): 51.
1075:apoptosis
1062:WD repeat
953:NP_758960
916:NP_009006
886:NM_172372
849:NM_007075
679:Orthologs
619:autophagy
603:cytoplasm
82:GeneCards
1573:14671302
1536:15020712
1493:22642893
1485:15602573
1465:Oncogene
1444:36328404
1397:34909266
1340:23176820
1269:12477932
1173:–
1152:–
1120:See also
1056:Function
1052:(BPAN).
1001:Wikidata
658:Sources:
1669:protein
1639:8125298
1610:9373149
1581:6682593
1553:Bibcode
1545:Science
1388:8641530
1331:3516593
1237:Bibcode
1175:Ensembl
1154:Ensembl
1094:De novo
1033:protein
791:UniProt
746:Ensembl
685:Species
664:QuickGO
583:cytosol
457:saccule
312:pattern
170:Xp11.23
70:1859606
38:Aliases
1637:
1608:
1579:
1571:
1534:
1527:420090
1524:
1491:
1483:
1442:
1434:
1395:
1385:
1338:
1328:
1267:
1260:139241
1257:
987:search
985:PubMed
824:Q91VM3
805:Q9Y484
701:Entrez
483:BioGPS
425:morula
421:morula
62:300526
1671:is a
1577:S2CID
1489:S2CID
1098:WDR45
1082:WDR45
1037:WDR45
734:54636
715:11152
694:Mouse
689:Human
660:Amigo
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
86:WDR45
78:48498
45:WDR45
22:WDR45
1673:stub
1661:gene
1635:PMID
1619:Gene
1606:PMID
1590:Gene
1569:PMID
1532:PMID
1481:PMID
1440:PMID
1432:ISSN
1393:PMID
1336:PMID
1265:PMID
1040:gene
318:Bgee
266:Band
227:Chr.
165:Band
124:Chr.
58:OMIM
1627:doi
1623:138
1598:doi
1594:200
1561:doi
1549:302
1522:PMC
1514:doi
1473:doi
1424:doi
1383:PMC
1373:doi
1326:PMC
1318:doi
1255:PMC
1245:doi
288:End
187:End
90:OMA
66:MGI
1718::
1633:.
1621:.
1604:.
1592:.
1575:.
1567:.
1559:.
1547:.
1530:.
1520:.
1510:15
1508:.
1504:.
1487:.
1479:.
1469:23
1467:.
1438:.
1430:.
1420:43
1418:.
1414:.
1391:.
1381:.
1369:11
1367:.
1363:.
1351:^
1342:.
1334:.
1324:.
1314:91
1312:.
1308:.
1294:^
1277:^
1263:.
1253:.
1243:.
1233:99
1231:.
1227:.
1208:.
1190:.
1161:^
1140:^
1073:,
662:/
294:bp
281:bp
193:bp
180:bp
88:;
84::
80:;
76::
72:;
68::
64:;
60::
1704:e
1697:t
1690:v
1679:.
1641:.
1629::
1612:.
1600::
1583:.
1563::
1555::
1538:.
1516::
1495:.
1475::
1446:.
1426::
1399:.
1375::
1320::
1288:.
1271:.
1247::
1239::
1212:.
1194:.
212:)
109:)
92::
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