Knowledge (XXG)

CHML (gene)

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Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH (May 1992). "An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q".
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von Bokhoven H, von Genderen C, Molloy CM, van de Pol DJ, Cremers CW, von Aarem A, et al. (January 1994). "Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II".
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Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, et al. (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation".
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The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II.
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Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC (January 2003). "Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface".
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Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, et al. (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex".
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Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, et al. (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex".
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van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, et al. (July 1994). "Cloning and characterization of the human choroideremia gene".
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Kasper G, Taudien S, Staub E, Mennerich D, Rieder M, Hinzmann B, et al. (July 2002). "Different structural organization of the encephalopsin gene in man and mouse".
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Chan D, Lin J, Raffaniello RD (December 2000). "Expression and localization of rab escort protein isoforms in parotid acinar cells from rat".
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Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, et al. (December 2005). "Transcriptome analysis of human gastric cancer".
1152: 1065: 1044: 1805: 1425: 1061: 140: 115: 1639: 1040: 1651: 57: 1008: 254: 153: 1698: 1931: 247: 146: 751: 65: 48:, REP2, choroideremia-like (Rab escort protein 2), CHM like, Rab escort protein 2, CHM like Rab escort protein 732: 1924: 129: 44: 1645: 884: 880: 829: 825: 1866: 1570: 1533: 1437: 89: 905: 876: 850: 821: 1613: 1582:
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006).
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National Center for Biotechnology Information, U.S. National Library of Medicine
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National Center for Biotechnology Information, U.S. National Library of Medicine
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Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (January 1994).
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Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (January 1994).
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10.1002/1097-4652(200012)185:3<339::AID-JCP4>3.0.CO;2-4
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Rab proteins geranylgeranyltransferase component A 2
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Biochemical and Biophysical Research Communications
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You can help Knowledge (XXG) by 895: 866: 840: 811: 787: 768: 742: 723: 697: 678: 487: 405: 343: 322: 14: 988:that in humans is encoded by the 1891: 1786:Death-inducing signaling complex 607:regulation of catalytic activity 491: 253: 246: 240: 217: 152: 145: 139: 114: 597:intracellular protein transport 1414:Journal of Cellular Physiology 1007:CHML (gene) has been shown to 502:More reference expression data 471:More reference expression data 1: 1963:Human chromosome 1 gene stubs 1492:10.1016/S0006-291X(02)02963-7 1463:10.1016/S0378-1119(02)00799-0 1367:10.1016/S0021-9258(17)42142-9 1226:10.1016/S0021-9258(17)42142-9 238: 137: 1958:Genes on human chromosome 1 602:protein geranylgeranylation 1979: 1886: 1710:JAK-STAT signaling pathway 1644:gene details page in the 622:vesicle-mediated transport 453:lateral geniculate nucleus 421:superior cervical ganglion 1862: 1754: 1559:10.1007/s00335-005-0075-2 1097:"Mouse PubMed Reference:" 1079:"Human PubMed Reference:" 968: 963: 959: 952: 936: 930:Chr 1: 175.51 – 175.52 Mb 923:Chr 1: 241.63 – 241.64 Mb 917: 902: 873: 862: 847: 818: 807: 794: 790: 775: 771: 762: 749: 745: 730: 726: 717: 704: 700: 685: 681: 672: 657: 650: 646: 630: 535:GTPase activator activity 520: 516: 499: 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: 1302:10.1074/jbc.270.41.24420 1256:Human Molecular Genetics 1116:Human Molecular Genetics 1722:receptor-bound protein 1333:10.1006/geno.1994.1077 437:lumbar spinal ganglion 383:superior frontal gyrus 395:primary visual cortex 1638:genome location and 1510:Nature Biotechnology 1128:10.1093/hmg/3.7.1041 232:Chromosome 1 (mouse) 130:Chromosome 1 (human) 1646:UCSC Genome Browser 457:trigeminal ganglion 363:ganglionic eminence 271:1 H3|1 81.7 cM 1899:This article on a 1600:10.1101/gr.4039406 1268:10.1093/hmg/1.2.71 752:ENSMUSG00000078185 585:Biological process 549:Cellular component 528:Molecular function 433:supraoptic nucleus 1920: 1919: 1884: 1883: 1880: 1879: 1397:10.1021/bi980881a 1183:10.1021/bi980881a 979: 978: 975: 974: 948: 947: 913: 912: 892: 891: 858: 857: 837: 836: 803: 802: 784: 783: 758: 757: 739: 738: 713: 712: 694: 693: 642: 641: 512: 511: 508: 507: 477: 476: 464: 463: 402: 401: 371:postcentral gyrus 300: 299: 199: 198: 1970: 1941: 1934: 1927: 1895: 1888: 1752: 1687:carrier proteins 1676: 1669: 1662: 1653: 1621: 1611: 1578: 1547:Mammalian Genome 1541: 1503: 1474: 1445: 1408: 1391:(36): 12559–68. 1379: 1369: 1344: 1314: 1304: 1279: 1239: 1238: 1228: 1204: 1195: 1194: 1177:(36): 12559–68. 1166: 1157: 1156: 1149: 1140: 1139: 1111: 1105: 1104: 1093: 1087: 1086: 1075: 1069: 1059: 1048: 1038: 961: 960: 932: 925: 908: 896: 887: 867: 863:RefSeq (protein) 853: 841: 832: 812: 788: 769: 743: 724: 698: 679: 648: 518: 504: 495: 488: 473: 449:substantia nigra 413: 411:Top expressed in 406: 375:ventricular zone 367:Brodmann area 23 351: 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: 94:CHML - orthologs 47: 40: 19: 1978: 1977: 1973: 1972: 1971: 1969: 1968: 1967: 1948: 1947: 1946: 1945: 1885: 1876: 1858: 1743: 1714: 1693: 1680: 1629: 1624: 1588:Genome Research 1581: 1544: 1506: 1477: 1448: 1411: 1382: 1347: 1317: 1295:(41): 24420–7. 1282: 1252: 1248: 1246:Further reading 1243: 1242: 1206: 1205: 1198: 1168: 1167: 1160: 1151: 1150: 1143: 1113: 1112: 1108: 1095: 1094: 1090: 1077: 1076: 1072: 1060: 1051: 1039: 1030: 1025: 1005: 970:View/Edit Mouse 965:View/Edit Human 928: 921: 918:Location (UCSC) 904: 883: 879: 875: 849: 828: 824: 820: 733:ENSG00000203668 626: 580: 544: 500: 469: 460: 455: 451: 447: 443: 439: 435: 431: 427: 423: 409: 398: 393: 389: 385: 381: 379:visceral pleura 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: 1976: 1974: 1966: 1965: 1960: 1950: 1949: 1944: 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1255: 1216: 1212: 1174: 1171:Biochemistry 1170: 1119: 1115: 1109: 1100: 1091: 1082: 1073: 1006: 1003:Interactions 997: 989: 981: 980: 903: 885:NP_001368783 881:NP_001368782 874: 848: 830:NM_001381854 826:NM_001381853 819: 795: 776: 750: 731: 705: 686: 666: 661: 333: 326: 292:175,520,467 279:175,509,803 191:241,640,369 178:241,628,851 53:External IDs 1486:(1): 92–7. 1262:(2): 71–5. 556:nucleoplasm 31:Identifiers 1952:Categories 1068:, May 2017 1047:, May 2017 1023:References 337:(ortholog) 74:HomoloGene 1903:on human 1781:Cortactin 906:NP_067325 877:NP_001812 851:NM_021350 822:NM_001821 652:Orthologs 566:cytoplasm 82:GeneCards 1791:Paxillin 1776:Caveolin 1699:JAK-STAT 1618:16344560 1567:16341674 1538:27764390 1530:15146197 1500:12535645 1471:12242008 1442:23575277 1434:11056004 1321:Genomics 1064:– 1043:– 1009:interact 954:Wikidata 631:Sources: 391:testicle 387:placenta 1609:1356129 1405:9730828 1376:8294464 1341:8188272 1311:7592656 1276:1301160 1235:8294464 1191:9730828 1136:7981670 1066:Ensembl 1045:Ensembl 764:UniProt 719:Ensembl 658:Species 637:QuickGO 576:nucleus 571:cytosol 312:pattern 38:Aliases 1849:SH3BP2 1759:14-3-3 1632:Human 1616:  1606:  1573:  1565:  1536:  1528:  1498:  1469:  1440:  1432:  1403:  1374:  1339:  1309:  1274:  1233:  1189:  1134:  986:enzyme 984:is an 940:search 938:PubMed 797:Q9QZD5 778:P26374 674:Entrez 483:BioGPS 441:atrium 70:101913 62:118825 1907:is a 1836:TRAF6 1831:TRAF5 1826:TRAF4 1821:TRAF3 1816:TRAF2 1811:TRAF1 1796:MYD88 1769:YWHAZ 1764:YWHAE 1748:Other 1739:GRB10 1575:69278 1571:S2CID 1534:S2CID 1438:S2CID 1017:RAB5A 1013:RAB1A 1011:with 707:12663 667:Mouse 662:Human 633:Amigo 359:sperm 335:Mouse 328:Human 275:Start 210:Mouse 174:Start 107:Human 78:31055 1909:stub 1901:gene 1872:CHML 1854:LDB3 1844:BIN1 1806:TRAF 1801:SMAD 1734:GRB7 1729:GRB2 1641:CHML 1635:CHML 1614:PMID 1563:PMID 1526:PMID 1496:PMID 1467:PMID 1451:Gene 1430:PMID 1401:PMID 1372:PMID 1337:PMID 1307:PMID 1272:PMID 1231:PMID 1187:PMID 1132:PMID 1015:and 993:gene 990:CHML 688:1122 429:hand 318:Bgee 266:Band 227:Chr. 170:1q43 165:Band 124:Chr. 86:CHML 58:OMIM 45:CHML 22:CHML 1867:CHM 1707:see 1604:PMC 1596:doi 1555:doi 1518:doi 1488:doi 1484:301 1459:doi 1455:295 1422:doi 1418:185 1393:doi 1362:doi 1358:269 1329:doi 1297:doi 1293:270 1264:doi 1221:doi 1217:269 1179:doi 1124:doi 288:End 187:End 90:OMA 66:MGI 1954:: 1689:: 1685:: 1612:. 1602:. 1592:16 1590:. 1586:. 1569:. 1561:. 1551:16 1549:. 1532:. 1524:. 1514:22 1512:. 1494:. 1482:. 1465:. 1453:. 1436:. 1428:. 1416:. 1399:. 1389:37 1387:. 1370:. 1356:. 1352:. 1335:. 1325:19 1323:. 1305:. 1291:. 1287:. 1270:. 1258:. 1229:. 1215:. 1211:. 1199:^ 1185:. 1175:37 1173:. 1161:^ 1144:^ 1130:. 1118:. 1099:. 1081:. 1052:^ 1031:^ 1019:. 995:. 635:/ 294:bp 281:bp 193:bp 180:bp 88:; 84:: 80:; 76:: 72:; 68:: 64:; 60:: 1940:e 1933:t 1926:v 1915:. 1838:) 1675:e 1668:t 1661:v 1648:. 1620:. 1598:: 1577:. 1557:: 1540:. 1520:: 1502:. 1490:: 1473:. 1461:: 1444:. 1424:: 1407:. 1395:: 1378:. 1364:: 1343:. 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Index

Aliases
CHML
OMIM
118825
MGI
101913
HomoloGene
31055
GeneCards
CHML
OMA
CHML - orthologs
Human
Chromosome 1 (human)
Chr.
Chromosome 1 (human)
Chromosome 1 (human)
Genomic location for CHML
Genomic location for CHML
Band
bp
bp
Mouse
Chromosome 1 (mouse)
Chr.
Chromosome 1 (mouse)
Genomic location for CHML
Genomic location for CHML
Band
bp

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