242:
219:
141:
116:
248:
147:
1814:
1581:"A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts"
255:
154:
1307:
Bhargava, Hersh K.; Tabata, Keisuke; Byck, Jordan M.; Hamasaki, Maho; Farrell, Daniel P.; Anishchenko, Ivan; DiMaio, Frank; Im, Young Jun; Yoshimori, Tamotsu; Hurley, James H. (2020-07-21).
1542:
Hartel-Schenk S, Gratchev A, Hanski ML, et al. (2001). "Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway".
1374:
Beltran, S.; Nassif, M.; Vicencio, E.; Arcos, J.; Labrador, L.; Cortes, B. I.; Cortez, C.; Bergmann, C. A.; Espinoza, S.; Hernandez, M. F.; Matamala, J. M. (2019-03-27).
1139:"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"
702:
683:
77:
1667:"Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes"
1119:
1101:
1495:
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome".
925:
918:
1883:
1859:
1178:
Hartel-Schenk S, Gratchev A, Hanski ML, Ogorek D, Trendelenburg G, Hummel M, Höpfner M, Scherübl H, Zeitz M, Hanski C (2001).
1878:
1084:
1063:
1433:
Tabata, Keisuke; Matsunaga, Kohichi; Sakane, Ayuko; Sasaki, Takuya; Noda, Takeshi; Yoshimori, Tamotsu (December 2010).
1281:"PLEKHM1 - Pleckstrin homology domain-containing family M member 1 - Homo sapiens (Human) - PLEKHM1 gene & protein"
1624:"Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease"
241:
1233:"Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1"
1137:
Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 1997).
218:
1180:"Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway"
1763:"Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans"
1088:
1067:
1004:
1179:
755:
1064:
ENSG00000225190, ENSG00000276358 GRCh38: Ensembl release 89: ENSG00000277111, ENSG00000225190, ENSG00000276358
140:
115:
736:
732:
728:
57:
1435:"Rubicon and PLEKHM1 negatively regulate the endocytic/autophagic pathway via a novel Rab7-binding domain"
254:
153:
247:
146:
1852:
44:
880:
829:
65:
1015:
1710:"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"
901:
876:
850:
825:
1845:
129:
85:
1721:
1320:
1517:
8:
1725:
1376:"Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis"
1324:
1787:
1762:
1691:
1666:
1648:
1623:
1610:
1567:
1530:
1467:
1434:
1410:
1375:
1351:
1308:
1262:
1210:
89:
1744:
1709:
617:
612:
607:
602:
597:
592:
576:
571:
566:
561:
556:
551:
546:
541:
525:
1792:
1749:
1696:
1653:
1639:
1602:
1559:
1522:
1472:
1454:
1415:
1397:
1356:
1338:
1254:
1202:
1160:
1023:
37:
1614:
1266:
69:
1782:
1774:
1739:
1729:
1686:
1678:
1643:
1635:
1592:
1571:
1551:
1534:
1512:
1504:
1462:
1446:
1405:
1387:
1346:
1328:
1244:
1214:
1194:
1150:
334:
265:
209:
164:
1833:
309:
93:
1124:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1106:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1829:
1508:
1313:
Proceedings of the
National Academy of Sciences of the United States of America
1249:
1232:
410:
1555:
1392:
1198:
1872:
1825:
1458:
1401:
1342:
1309:"Structural basis for autophagy inhibition by the human Rubicon-Rab7 complex"
1155:
1138:
1039:
1027:
512:
1450:
1333:
470:
348:
1796:
1753:
1734:
1700:
1657:
1606:
1563:
1526:
1476:
1419:
1360:
1258:
1206:
327:
106:
48:, AP162, B2, OPTB6, pleckstrin homology and RUN domain containing M1, OPTA3
1164:
965:
960:
1280:
800:
781:
1597:
1580:
1022:. This domain is shared with family RH domain containing family members
1682:
1008:
226:
123:
73:
1778:
647:
293:
280:
192:
179:
81:
1231:
van
Wesenbeeck L, Odgren PR, Mackay CA, Van Hul W (February 2004).
949:
1230:
1177:
985:
767:
714:
632:
628:
1579:
Del
Fattore A, Fornari R, Van Wesenbeeck L, et al. (2008).
1578:
61:
933:
669:
1019:
1821:
1813:
1761:
Van
Wesenbeeck L, Odgren PR, Coxon FP, et al. (2007).
1708:
Strausberg RL, Feingold EA, Grouse LH, et al. (2002).
1541:
1432:
1136:
992:
1373:
1306:
1760:
1707:
317:
978:
Pleckstrin homology domain-containing family M member 1
1665:
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006).
1664:
1622:
Edwards TL, Scott WK, Almonte C, et al. (2010).
482:
1621:
1494:
1080:
1078:
1076:
1059:
1057:
1055:
1038:Mutations in the PLEKHM1 gene are associated with
264:
163:
1870:
1073:
1052:
16:Protein-coding gene in the species Homo sapiens
1226:
1224:
1085:GRCm38: Ensembl release 89: ENSMUSG00000034247
1853:
1221:
1171:
1860:
1846:
1130:
441:transitional epithelium of urinary bladder
1786:
1743:
1733:
1690:
1647:
1596:
1516:
1466:
1409:
1391:
1350:
1332:
1248:
1154:
1033:
577:intracellular membrane-bounded organelle
1871:
1003:PLEKHM1 may have critical function in
618:positive regulation of ruffle assembly
613:positive regulation of bone resorption
269:
230:
225:
168:
127:
122:
1808:
1302:
1300:
13:
1487:
1030:, which are autophagy regulators.
1018:, which mediates interaction with
14:
1895:
1297:
988:that in humans is encoded by the
603:intracellular signal transduction
1812:
1640:10.1111/j.1469-1809.2009.00560.x
253:
246:
240:
217:
152:
145:
139:
114:
1426:
1367:
1884:Human chromosome 17 gene stubs
1518:11858/00-001M-0000-0010-8592-0
1273:
1112:
1094:
1014:PLEKHM1 contains a C-terminal
471:More reference expression data
383:right hemisphere of cerebellum
1:
1439:Molecular Biology of the Cell
1045:
238:
137:
1879:Genes on human chromosome 17
1832:. You can help Knowledge by
1714:Proc. Natl. Acad. Sci. U.S.A
1016:Rubicon Homology (RH) domain
7:
1380:Molecular Neurodegeneration
998:
10:
1900:
1807:
1509:10.1016/j.cell.2005.08.029
1250:10.1359/jbmr.2004.19.2.183
1393:10.1186/s13024-019-0313-9
1120:"Mouse PubMed Reference:"
1102:"Human PubMed Reference:"
964:
959:
955:
948:
932:
926:Chr 11: 103.26 – 103.3 Mb
913:
898:
894:
873:
869:
862:
847:
843:
822:
818:
811:
798:
794:
779:
775:
766:
753:
749:
726:
722:
713:
700:
696:
681:
677:
668:
653:
646:
642:
626:
511:
507:
495:
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:
1628:Annals of Human Genetics
919:Chr 17: 45.44 – 45.49 Mb
1556:10.1023/A:1022256610674
1451:10.1091/mbc.E10-06-0495
1334:10.1073/pnas.2008030117
1199:10.1023/A:1022256610674
449:interventricular septum
1735:10.1073/pnas.242603899
1156:10.1093/dnares/4.2.141
433:mesenteric lymph nodes
1034:Clinical significance
608:lysosome localization
429:stroma of bone marrow
379:minor salivary glands
232:Chromosome 11 (mouse)
130:Chromosome 17 (human)
1726:2002PNAS...9916899M
1598:10.1359/jbmr.071107
1325:2020PNAS..11717003B
1319:(29): 17003–17010.
94:PLEKHM1 - orthologs
1820:This article on a
1683:10.1101/gr.4039406
1585:J. Bone Miner. Res
1237:J. Bone Miner. Res
756:ENSMUSG00000034247
586:Biological process
542:lysosomal membrane
535:Cellular component
519:Molecular function
1841:
1840:
1720:(26): 16899–903.
1550:(11–12): 915–23.
1445:(23): 4162–4172.
1193:(11–12): 915–23.
1020:small GTPase Rab7
975:
974:
971:
970:
944:
943:
909:
908:
888:
887:
858:
857:
837:
836:
807:
806:
788:
787:
762:
761:
743:
742:
709:
708:
690:
689:
638:
637:
598:protein transport
547:endosome membrane
526:metal ion binding
503:
502:
499:
498:
477:
476:
464:
463:
402:
401:
367:bone marrow cells
300:
299:
199:
198:
1891:
1862:
1855:
1848:
1816:
1809:
1800:
1790:
1779:10.1172/JCI30328
1757:
1747:
1737:
1704:
1694:
1661:
1651:
1618:
1600:
1575:
1538:
1520:
1481:
1480:
1470:
1430:
1424:
1423:
1413:
1395:
1371:
1365:
1364:
1354:
1336:
1304:
1295:
1294:
1292:
1291:
1277:
1271:
1270:
1252:
1228:
1219:
1218:
1184:
1175:
1169:
1168:
1158:
1134:
1128:
1127:
1116:
1110:
1109:
1098:
1092:
1082:
1071:
1061:
957:
956:
928:
921:
904:
892:
891:
883:
867:
866:
863:RefSeq (protein)
853:
841:
840:
832:
816:
815:
792:
791:
773:
772:
747:
746:
720:
719:
694:
693:
675:
674:
644:
643:
509:
508:
488:
487:
473:
413:
411:Top expressed in
406:
405:
351:
349:Top expressed in
344:
343:
323:
322:
306:
305:
296:
283:
272:
257:
250:
244:
233:
221:
205:
204:
195:
182:
171:
156:
149:
143:
132:
118:
102:
101:
96:
47:
40:
19:
18:
1899:
1898:
1894:
1893:
1892:
1890:
1889:
1888:
1869:
1868:
1867:
1866:
1805:
1803:
1767:J. Clin. Invest
1490:
1488:Further reading
1485:
1484:
1431:
1427:
1372:
1368:
1305:
1298:
1289:
1287:
1285:www.uniprot.org
1279:
1278:
1274:
1229:
1222:
1182:
1176:
1172:
1135:
1131:
1118:
1117:
1113:
1100:
1099:
1095:
1083:
1074:
1062:
1053:
1048:
1036:
1001:
966:View/Edit Mouse
961:View/Edit Human
924:
917:
914:Location (UCSC)
900:
879:
875:
849:
828:
824:
737:ENSG00000276358
735:
733:ENSG00000225190
731:
729:ENSG00000277111
622:
581:
530:
469:
460:
455:
451:
447:
443:
439:
435:
431:
427:
423:
409:
398:
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:
1897:
1887:
1886:
1881:
1865:
1864:
1857:
1850:
1842:
1839:
1838:
1817:
1802:
1801:
1758:
1705:
1662:
1619:
1576:
1539:
1491:
1489:
1486:
1483:
1482:
1425:
1366:
1296:
1272:
1220:
1170:
1129:
1111:
1093:
1072:
1050:
1049:
1047:
1044:
1035:
1032:
1000:
997:
980:also known as
973:
972:
969:
968:
963:
953:
952:
946:
945:
942:
941:
939:
937:
930:
929:
922:
915:
911:
910:
907:
906:
896:
895:
889:
886:
885:
871:
870:
864:
860:
859:
856:
855:
845:
844:
838:
835:
834:
820:
819:
813:
809:
808:
805:
804:
796:
795:
789:
786:
785:
777:
776:
770:
764:
763:
760:
759:
751:
750:
744:
741:
740:
724:
723:
717:
711:
710:
707:
706:
698:
697:
691:
688:
687:
679:
678:
672:
666:
665:
660:
655:
651:
650:
640:
639:
636:
635:
624:
623:
621:
620:
615:
610:
605:
600:
595:
589:
587:
583:
582:
580:
579:
574:
569:
564:
559:
554:
549:
544:
538:
536:
532:
531:
529:
528:
522:
520:
516:
515:
505:
504:
501:
500:
497:
496:
493:
492:
485:
479:
478:
475:
474:
466:
465:
462:
461:
459:
458:
454:
450:
446:
442:
438:
434:
430:
426:
422:
418:
415:
414:
403:
400:
399:
397:
396:
392:
388:
384:
380:
376:
372:
368:
364:
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:
9:
6:
4:
3:
2:
1896:
1885:
1882:
1880:
1877:
1876:
1874:
1863:
1858:
1856:
1851:
1849:
1844:
1843:
1837:
1835:
1831:
1827:
1826:chromosome 17
1823:
1818:
1815:
1811:
1810:
1806:
1798:
1794:
1789:
1784:
1780:
1776:
1773:(4): 919–30.
1772:
1768:
1764:
1759:
1755:
1751:
1746:
1741:
1736:
1731:
1727:
1723:
1719:
1715:
1711:
1706:
1702:
1698:
1693:
1688:
1684:
1680:
1676:
1672:
1668:
1663:
1659:
1655:
1650:
1645:
1641:
1637:
1634:(2): 97–109.
1633:
1629:
1625:
1620:
1616:
1612:
1608:
1604:
1599:
1594:
1591:(3): 380–91.
1590:
1586:
1582:
1577:
1573:
1569:
1565:
1561:
1557:
1553:
1549:
1545:
1540:
1536:
1532:
1528:
1524:
1519:
1514:
1510:
1506:
1503:(6): 957–68.
1502:
1498:
1493:
1492:
1478:
1474:
1469:
1464:
1460:
1456:
1452:
1448:
1444:
1440:
1436:
1429:
1421:
1417:
1412:
1407:
1403:
1399:
1394:
1389:
1385:
1381:
1377:
1370:
1362:
1358:
1353:
1348:
1344:
1340:
1335:
1330:
1326:
1322:
1318:
1314:
1310:
1303:
1301:
1286:
1282:
1276:
1268:
1264:
1260:
1256:
1251:
1246:
1242:
1238:
1234:
1227:
1225:
1216:
1212:
1208:
1204:
1200:
1196:
1192:
1188:
1181:
1174:
1166:
1162:
1157:
1152:
1149:(2): 141–50.
1148:
1144:
1140:
1133:
1125:
1121:
1115:
1107:
1103:
1097:
1090:
1086:
1081:
1079:
1077:
1069:
1065:
1060:
1058:
1056:
1051:
1043:
1041:
1040:osteopetrosis
1031:
1029:
1025:
1021:
1017:
1012:
1010:
1007:transport in
1006:
996:
994:
991:
987:
983:
979:
967:
962:
958:
954:
951:
947:
940:
938:
935:
931:
927:
923:
920:
916:
912:
905:
903:
897:
893:
890:
884:
882:
878:
872:
868:
865:
861:
854:
852:
846:
842:
839:
833:
831:
827:
821:
817:
814:
812:RefSeq (mRNA)
810:
803:
802:
797:
793:
790:
784:
783:
778:
774:
771:
769:
765:
758:
757:
752:
748:
745:
739:
738:
734:
730:
725:
721:
718:
716:
712:
705:
704:
699:
695:
692:
686:
685:
680:
676:
673:
671:
667:
664:
661:
659:
656:
652:
649:
645:
641:
634:
630:
625:
619:
616:
614:
611:
609:
606:
604:
601:
599:
596:
594:
591:
590:
588:
585:
584:
578:
575:
573:
570:
568:
565:
563:
560:
558:
555:
553:
550:
548:
545:
543:
540:
539:
537:
534:
533:
527:
524:
523:
521:
518:
517:
514:
513:Gene ontology
510:
506:
494:
489:
486:
484:
480:
472:
467:
457:otolith organ
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:
271:11|11 E1
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1834:expanding it
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1677:(1): 55–65.
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1544:Glycoconj. J
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1288:. Retrieved
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1243:(2): 183–9.
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1187:Glycoconj. J
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881:NP_001339754
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830:NM_001352825
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727:
701:
682:
662:
657:
333:
326:
292:103,303,513
279:103,255,101
53:External IDs
1009:osteoclasts
421:granulocyte
391:granulocyte
387:sural nerve
371:skin of leg
363:bone marrow
191:45,490,749
178:45,435,900
31:Identifiers
1873:Categories
1671:Genome Res
1290:2022-05-31
1091:, May 2017
1070:, May 2017
1046:References
453:right lung
395:ectocervix
337:(ortholog)
74:HomoloGene
1824:on human
1459:1939-4586
1402:1750-1326
1386:(1): 14.
1343:1091-6490
1005:vesicular
902:NP_898855
877:NP_055613
851:NM_183034
826:NM_014798
648:Orthologs
593:autophagy
572:nucleolus
562:cytoplasm
82:GeneCards
1797:17404618
1754:12477932
1701:16344560
1658:20070850
1615:34037255
1607:17997709
1564:12820725
1527:16169070
1477:20943950
1420:30917850
1361:32632011
1267:22195601
1259:14969387
1207:12820725
1087:–
1066:–
999:Function
950:Wikidata
627:Sources:
567:endosome
557:membrane
552:lysosome
170:17q21.31
1788:1838941
1722:Bibcode
1692:1356129
1649:2853717
1572:6993267
1535:8235923
1468:2993745
1411:6437924
1352:7382272
1321:Bibcode
1215:6993267
1165:9205841
1143:DNA Res
1089:Ensembl
1068:Ensembl
1042:OPTB6.
1024:Rubicon
990:PLEKHM1
986:protein
982:PLEKHM1
768:UniProt
715:Ensembl
654:Species
633:QuickGO
445:decidua
312:pattern
86:PLEKHM1
70:2443207
45:PLEKHM1
38:Aliases
22:PLEKHM1
1795:
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1745:139241
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936:search
934:PubMed
801:Q7TSI1
782:Q9Y4G2
703:353047
670:Entrez
483:BioGPS
425:zygote
375:vagina
62:611466
1828:is a
1611:S2CID
1568:S2CID
1531:S2CID
1263:S2CID
1211:S2CID
1183:(PDF)
1028:Pacer
984:is a
663:Mouse
658:Human
629:Amigo
437:blood
359:blood
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
1830:stub
1822:gene
1793:PMID
1750:PMID
1697:PMID
1654:PMID
1603:PMID
1560:PMID
1523:PMID
1497:Cell
1473:PMID
1455:ISSN
1416:PMID
1398:ISSN
1357:PMID
1339:ISSN
1255:PMID
1203:PMID
1161:PMID
1026:and
993:gene
684:9842
318:Bgee
266:Band
227:Chr.
165:Band
124:Chr.
78:8871
58:OMIM
1783:PMC
1775:doi
1771:117
1740:PMC
1730:doi
1687:PMC
1679:doi
1644:PMC
1636:doi
1593:doi
1552:doi
1513:hdl
1505:doi
1501:122
1463:PMC
1447:doi
1406:PMC
1388:doi
1347:PMC
1329:doi
1317:117
1245:doi
1195:doi
1151:doi
491:n/a
288:End
187:End
90:OMA
66:MGI
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