211:
188:
414:
217:
29:
1759:
1744:
1729:
1784:
1033:
The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition,
1560:
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P,
55:
1561:
Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network".
1488:
Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP (September 2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure".
1280:
Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP (September 2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure".
224:
1175:"Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development"
722:
149:
703:
1447:"Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals"
1394:"SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast"
1233:"Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals"
1853:
1829:
1708:
1106:
1088:
52:
210:
1328:
Sharland M, Patton MA, Hill L (June 1991). "Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2".
187:
959:
1608:"Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II"
1217:
1758:
1075:
1071:
1743:
1728:
1649:
Kharrat N, Ayadi I, Rebaï A (December 2006). "Sample size computation for association studies using case-parents design".
129:
1173:
Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC (May 1996).
1043:
223:
1822:
1701:
216:
1034:
it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle.
767:
137:
748:
1126:"Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3"
1848:
1815:
1694:
1570:
1497:
1405:
1289:
116:
912:
908:
898:
894:
890:
886:
1674:
1637:
1594:
161:
937:
916:
882:
862:
841:
548:
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
1666:
1629:
1586:
1548:
1513:
1476:
1433:
1380:
1345:
1305:
1262:
1196:
1155:
109:
45:
1799:
1658:
1619:
1578:
1538:
1505:
1466:
1458:
1423:
1413:
1370:
1337:
1297:
1252:
1244:
1186:
1145:
1137:
303:
234:
178:
120:, DSS1, ECD, SHFD1, SHSF1, Shfdg1, SHFM1, split hand/foot malformation (ectrodactyly) type 1
413:
278:
157:
1574:
1501:
1409:
1357:
Sanger Centre, The; Washington
University Genome Sequencing Cente, The (November 1998).
1293:
1150:
1125:
28:
1445:
Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A (July 1999).
1231:
Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A (July 1999).
637:
632:
627:
622:
617:
612:
607:
602:
597:
592:
587:
582:
577:
572:
567:
562:
557:
552:
547:
542:
537:
532:
527:
522:
517:
512:
507:
491:
486:
481:
476:
471:
455:
1842:
1606:
Baillat D, Hakimi MA, Näär AM, Shilatifard A, Cooch N, Shiekhattar R (October 2005).
1471:
1446:
1428:
1393:
1257:
1232:
442:
1641:
1795:
1598:
296:
141:
1678:
1509:
1301:
613:
regulation of transcription from RNA polymerase II promoter in response to hypoxia
165:
1111:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1093:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1624:
1607:
1527:"Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae"
1398:
Proceedings of the
National Academy of Sciences of the United States of America
336:
1392:
Jäntti J, Lahdenranta J, Olkkonen VM, Söderlund H, Keränen S (February 1999).
195:
145:
1341:
667:
262:
249:
153:
1670:
1633:
1590:
1552:
1543:
1526:
1517:
1480:
1309:
1266:
1462:
1437:
1418:
1384:
1349:
1248:
1200:
1191:
1174:
1159:
999:
994:
1375:
1358:
1141:
983:
816:
797:
793:
1582:
1662:
1218:"Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1"
1015:
779:
734:
568:
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
86:
82:
78:
74:
967:
689:
1783:
1047:
652:
648:
588:
proteasome-mediated ubiquitin-dependent protein catabolic process
1791:
1022:
133:
1690:
422:
1686:
558:
negative regulation of G2/M transition of mitotic cell cycle
1124:
Roberts SH, Hughes HE, Davies SJ, Meredith AL (July 1991).
286:
1803:
528:
double-strand break repair via homologous recombination
628:
positive regulation of canonical Wnt signaling pathway
623:
negative regulation of canonical Wnt signaling pathway
563:
anaphase-promoting complex-dependent catabolic process
638:
regulation of hematopoietic stem cell differentiation
403:
543:
stimulatory C-type lectin receptor signaling pathway
930:
881:
855:
834:
608:
Wnt signaling pathway, planar cell polarity pathway
553:
regulation of cellular amino acid metabolic process
1525:Sone T, Saeki Y, Toh-e A, Yokosawa H (July 2004).
1067:
1065:
1063:
633:regulation of mitotic cell cycle phase transition
233:
573:tumor necrosis factor-mediated signaling pathway
1072:GRCm38: Ensembl release 89: ENSMUSG00000042541
482:proteasome regulatory particle, lid subcomplex
1823:
1702:
8:
1830:
1816:
1709:
1695:
1687:
878:
663:
438:
274:
173:
63:
1767:: STRUCTURE OF A BRCA2-DSS1-SSDNA COMPLEX
1623:
1542:
1470:
1427:
1417:
1374:
1359:"Toward a complete human genome sequence"
1256:
1190:
1149:
1212:
1210:
618:interleukin-1-mediated signaling pathway
1724:
1059:
523:post-translational protein modification
18:
583:Fc-epsilon receptor signaling pathway
238:
199:
194:
7:
1780:
1778:
1330:American Journal of Medical Genetics
355:endothelial cell of lymphatic vessel
1752:: Structure of a BRCA2-DSS1 complex
1737:: STRUCTURE OF A BRCA2-DSS1 COMPLEX
1531:The Journal of Biological Chemistry
1012:26S proteasome complex subunit DSS1
1802:. You can help Knowledge (XXG) by
927:
852:
831:
807:
784:
758:
739:
713:
694:
408:
331:
312:
291:
14:
1018:that in humans is encoded by the
598:T cell receptor signaling pathway
1782:
1757:
1742:
1727:
412:
222:
215:
209:
186:
27:
16:Gene of the species Homo sapiens
1451:Molecular and Cellular Biology
1237:Molecular and Cellular Biology
423:More reference expression data
1:
1854:Human chromosome 7 gene stubs
1510:10.1126/science.297.5588.1837
1302:10.1126/science.297.5588.1837
207:
593:regulation of mRNA stability
1130:Journal of Medical Genetics
1870:
1777:
1625:10.1016/j.cell.2005.08.019
538:protein polyubiquitination
367:medial ganglionic eminence
1722:
1107:"Mouse PubMed Reference:"
1089:"Human PubMed Reference:"
998:
993:
989:
982:
966:
949:
934:
905:
874:
859:
838:
827:
814:
810:
791:
787:
778:
765:
761:
746:
742:
733:
720:
716:
701:
697:
688:
673:
666:
662:
646:
441:
437:
420:
411:
402:
394:
359:medullary collecting duct
343:
334:
319:
315:
285:
277:
273:
256:
243:
206:
185:
176:
172:
127:
124:
114:
107:
102:
71:
66:
49:
44:
39:
35:
26:
21:
1179:Human Molecular Genetics
1042:SHFM1 has been shown to
518:protein deubiquitination
508:mRNA export from nucleus
1342:10.1002/ajmg.1320390410
603:transmembrane transport
578:NIK/NF-kappaB signaling
1544:10.1074/jbc.M403165200
1463:10.1128/mcb.19.7.4633
1419:10.1073/pnas.96.3.909
1249:10.1128/mcb.19.7.4633
960:Chr 6: 6.56 – 6.58 Mb
347:mandibular prominence
1376:10.1101/gr.8.11.1097
1142:10.1136/jmg.28.7.479
351:maxillary prominence
201:Chromosome 6 (mouse)
67:List of PDB id codes
40:Available structures
1651:Journal of Genetics
1583:10.1038/nature04209
1575:2005Natur.437.1173R
1502:2002Sci...297.1837Y
1410:1999PNAS...96..909J
1294:2002Sci...297.1837Y
1192:10.1093/hmg/5.5.571
513:proteasome assembly
1790:This article on a
1663:10.1007/BF02935329
768:ENSMUSG00000042541
501:Biological process
477:proteasome complex
472:integrator complex
465:Cellular component
449:Molecular function
1811:
1810:
1775:
1774:
1496:(5588): 1837–48.
1288:(5588): 1837–48.
1009:
1008:
1005:
1004:
978:
977:
945:
944:
924:
923:
870:
869:
849:
848:
823:
822:
804:
803:
774:
773:
755:
754:
729:
728:
710:
709:
658:
657:
433:
432:
429:
428:
398:
397:
390:
389:
328:
327:
269:
268:
98:
97:
94:
93:
50:Ortholog search:
1861:
1832:
1825:
1818:
1786:
1779:
1761:
1746:
1731:
1711:
1704:
1697:
1688:
1682:
1645:
1627:
1602:
1569:(7062): 1173–8.
1556:
1546:
1537:(27): 28807–16.
1521:
1484:
1474:
1441:
1431:
1421:
1388:
1378:
1369:(11): 1097–108.
1353:
1314:
1313:
1277:
1271:
1270:
1260:
1228:
1222:
1221:
1214:
1205:
1204:
1194:
1170:
1164:
1163:
1153:
1121:
1115:
1114:
1103:
1097:
1096:
1085:
1079:
1069:
991:
990:
962:
955:
940:
928:
919:
879:
875:RefSeq (protein)
865:
853:
844:
832:
808:
785:
759:
740:
714:
695:
664:
439:
425:
416:
409:
375:primitive streak
339:
337:Top expressed in
332:
313:
292:
275:
265:
252:
241:
226:
219:
213:
202:
190:
174:
168:
166:SEM1 - orthologs
119:
112:
89:
64:
58:
37:
36:
31:
19:
1869:
1868:
1864:
1863:
1862:
1860:
1859:
1858:
1839:
1838:
1837:
1836:
1776:
1771:
1768:
1762:
1753:
1747:
1738:
1732:
1718:
1715:
1685:
1648:
1605:
1559:
1524:
1487:
1444:
1391:
1363:Genome Research
1356:
1327:
1323:
1321:Further reading
1318:
1317:
1279:
1278:
1274:
1230:
1229:
1225:
1216:
1215:
1208:
1172:
1171:
1167:
1123:
1122:
1118:
1105:
1104:
1100:
1087:
1086:
1082:
1070:
1061:
1056:
1040:
1031:
1000:View/Edit Mouse
995:View/Edit Human
958:
953:
950:Location (UCSC)
936:
915:
911:
907:
901:
897:
893:
889:
885:
861:
840:
796:
749:ENSG00000127922
642:
496:
460:
456:protein binding
421:
386:
381:
377:
373:
369:
365:
361:
357:
353:
349:
335:
324:
260:
247:
239:
229:
228:
227:
220:
200:
177:Gene location (
128:
115:
108:
73:
51:
17:
12:
11:
5:
1867:
1865:
1857:
1856:
1851:
1841:
1840:
1835:
1834:
1827:
1820:
1812:
1809:
1808:
1787:
1773:
1772:
1770:
1769:
1763:
1756:
1754:
1748:
1741:
1739:
1733:
1726:
1723:
1720:
1719:
1716:
1714:
1713:
1706:
1699:
1691:
1684:
1683:
1646:
1603:
1557:
1522:
1485:
1457:(7): 4633–42.
1442:
1389:
1354:
1324:
1322:
1319:
1316:
1315:
1272:
1243:(7): 4633–42.
1223:
1206:
1165:
1116:
1098:
1080:
1058:
1057:
1055:
1052:
1039:
1036:
1030:
1027:
1007:
1006:
1003:
1002:
997:
987:
986:
980:
979:
976:
975:
973:
971:
964:
963:
956:
951:
947:
946:
943:
942:
932:
931:
925:
922:
921:
903:
902:
876:
872:
871:
868:
867:
857:
856:
850:
847:
846:
836:
835:
829:
825:
824:
821:
820:
812:
811:
805:
802:
801:
789:
788:
782:
776:
775:
772:
771:
763:
762:
756:
753:
752:
744:
743:
737:
731:
730:
727:
726:
718:
717:
711:
708:
707:
699:
698:
692:
686:
685:
680:
675:
671:
670:
660:
659:
656:
655:
644:
643:
641:
640:
635:
630:
625:
620:
615:
610:
605:
600:
595:
590:
585:
580:
575:
570:
565:
560:
555:
550:
545:
540:
535:
530:
525:
520:
515:
510:
504:
502:
498:
497:
495:
494:
489:
484:
479:
474:
468:
466:
462:
461:
459:
458:
452:
450:
446:
445:
435:
434:
431:
430:
427:
426:
418:
417:
406:
400:
399:
396:
395:
392:
391:
388:
387:
385:
384:
380:
379:abdominal wall
376:
372:
368:
364:
360:
356:
352:
348:
344:
341:
340:
329:
326:
325:
323:
320:
317:
316:
309:
308:
300:
289:
283:
282:
279:RNA expression
271:
270:
267:
266:
258:
254:
253:
245:
242:
237:
231:
230:
221:
214:
208:
204:
203:
198:
192:
191:
183:
182:
170:
169:
126:
122:
121:
113:
105:
104:
100:
99:
96:
95:
92:
91:
69:
68:
60:
59:
48:
42:
41:
33:
32:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1866:
1855:
1852:
1850:
1847:
1846:
1844:
1833:
1828:
1826:
1821:
1819:
1814:
1813:
1807:
1805:
1801:
1797:
1793:
1788:
1785:
1781:
1766:
1760:
1755:
1751:
1745:
1740:
1736:
1730:
1725:
1721:
1712:
1707:
1705:
1700:
1698:
1693:
1692:
1689:
1680:
1676:
1672:
1668:
1664:
1660:
1657:(3): 187–91.
1656:
1652:
1647:
1643:
1639:
1635:
1631:
1626:
1621:
1618:(2): 265–76.
1617:
1613:
1609:
1604:
1600:
1596:
1592:
1588:
1584:
1580:
1576:
1572:
1568:
1564:
1558:
1554:
1550:
1545:
1540:
1536:
1532:
1528:
1523:
1519:
1515:
1511:
1507:
1503:
1499:
1495:
1491:
1486:
1482:
1478:
1473:
1468:
1464:
1460:
1456:
1452:
1448:
1443:
1439:
1435:
1430:
1425:
1420:
1415:
1411:
1407:
1404:(3): 909–14.
1403:
1399:
1395:
1390:
1386:
1382:
1377:
1372:
1368:
1364:
1360:
1355:
1351:
1347:
1343:
1339:
1335:
1331:
1326:
1325:
1320:
1311:
1307:
1303:
1299:
1295:
1291:
1287:
1283:
1276:
1273:
1268:
1264:
1259:
1254:
1250:
1246:
1242:
1238:
1234:
1227:
1224:
1219:
1213:
1211:
1207:
1202:
1198:
1193:
1188:
1184:
1180:
1176:
1169:
1166:
1161:
1157:
1152:
1147:
1143:
1139:
1136:(7): 479–81.
1135:
1131:
1127:
1120:
1117:
1112:
1108:
1102:
1099:
1094:
1090:
1084:
1081:
1077:
1073:
1068:
1066:
1064:
1060:
1053:
1051:
1049:
1045:
1037:
1035:
1028:
1026:
1024:
1021:
1017:
1013:
1001:
996:
992:
988:
985:
981:
974:
972:
969:
965:
961:
957:
952:
948:
941:
939:
933:
929:
926:
920:
918:
914:
910:
904:
900:
896:
892:
888:
884:
880:
877:
873:
866:
864:
858:
854:
851:
845:
843:
837:
833:
830:
828:RefSeq (mRNA)
826:
819:
818:
813:
809:
806:
800:
799:
795:
790:
786:
783:
781:
777:
770:
769:
764:
760:
757:
751:
750:
745:
741:
738:
736:
732:
725:
724:
719:
715:
712:
706:
705:
700:
696:
693:
691:
687:
684:
681:
679:
676:
672:
669:
665:
661:
654:
650:
645:
639:
636:
634:
631:
629:
626:
624:
621:
619:
616:
614:
611:
609:
606:
604:
601:
599:
596:
594:
591:
589:
586:
584:
581:
579:
576:
574:
571:
569:
566:
564:
561:
559:
556:
554:
551:
549:
546:
544:
541:
539:
536:
534:
531:
529:
526:
524:
521:
519:
516:
514:
511:
509:
506:
505:
503:
500:
499:
493:
490:
488:
485:
483:
480:
478:
475:
473:
470:
469:
467:
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457:
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448:
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444:
443:Gene ontology
440:
436:
424:
419:
415:
410:
407:
405:
401:
393:
382:
378:
374:
371:hair follicle
370:
366:
363:body of femur
362:
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321:
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20:
1804:expanding it
1796:chromosome 7
1789:
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1734:
1654:
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1530:
1493:
1489:
1454:
1450:
1401:
1397:
1366:
1362:
1336:(4): 413–4.
1333:
1329:
1285:
1281:
1275:
1240:
1236:
1226:
1185:(5): 571–9.
1182:
1178:
1168:
1133:
1129:
1119:
1110:
1101:
1092:
1083:
1041:
1038:Interactions
1032:
1019:
1011:
1010:
935:
913:NP_001336631
909:NP_001336630
906:
899:NP_001336629
895:NP_001336627
891:NP_001188380
887:NP_001188379
860:
839:
815:
792:
766:
747:
721:
702:
682:
677:
533:MAPK cascade
302:
295:
125:External IDs
72:
1849:Human genes
1717:PDB gallery
487:nucleoplasm
240:6|6 A1
103:Identifiers
1843:Categories
1078:, May 2017
1054:References
306:(ortholog)
261:6,578,663
248:6,557,294
146:HomoloGene
1794:on human
938:NP_033195
917:NP_006295
883:NP_006295
863:NM_009169
842:NM_006304
668:Orthologs
154:GeneCards
1671:17406092
1642:18069461
1634:16239144
1591:16189514
1553:15117943
1518:12228710
1481:10373512
1310:12228710
1267:10373512
1074:–
1044:interact
1029:Function
984:Wikidata
647:Sources:
1599:4427026
1571:Bibcode
1498:Bibcode
1490:Science
1438:9927667
1406:Bibcode
1385:9847074
1350:1877619
1290:Bibcode
1282:Science
1201:8733122
1160:1895319
1151:1016960
1076:Ensembl
1016:protein
780:UniProt
735:Ensembl
674:Species
653:QuickGO
492:cytosol
281:pattern
110:Aliases
1679:666139
1677:
1669:
1640:
1632:
1597:
1589:
1563:Nature
1551:
1516:
1479:
1469:
1436:
1426:
1383:
1348:
1308:
1265:
1255:
1199:
1158:
1148:
970:search
968:PubMed
817:P60897
798:Q6ZVN7
794:P60896
690:Entrez
404:BioGPS
383:dermis
142:109238
134:601285
1798:is a
1675:S2CID
1638:S2CID
1595:S2CID
1472:84261
1429:15324
1258:84261
1048:BRCA2
1046:with
1020:SHFM1
1014:is a
723:20422
683:Mouse
678:Human
649:Amigo
304:Mouse
297:Human
244:Start
179:Mouse
150:38165
1800:stub
1792:gene
1765:1mje
1750:1miu
1735:1iyj
1667:PMID
1630:PMID
1612:Cell
1587:PMID
1549:PMID
1514:PMID
1477:PMID
1434:PMID
1381:PMID
1346:PMID
1306:PMID
1263:PMID
1197:PMID
1156:PMID
1023:gene
704:7979
287:Bgee
235:Band
196:Chr.
158:SEM1
130:OMIM
117:SEM1
87:3T5X
83:1MJE
79:1MIU
75:1IYJ
56:RCSB
53:PDBe
22:SEM1
1659:doi
1620:doi
1616:123
1579:doi
1567:437
1539:doi
1535:279
1506:doi
1494:297
1467:PMC
1459:doi
1424:PMC
1414:doi
1371:doi
1338:doi
1298:doi
1286:297
1253:PMC
1245:doi
1187:doi
1146:PMC
1138:doi
954:n/a
322:n/a
257:End
162:OMA
138:MGI
46:PDB
1845::
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1655:85
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1062:^
1050:.
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651:/
263:bp
250:bp
160:;
156::
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148::
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140::
136:;
132::
85:,
81:,
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1831:e
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181:)
164::
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