Knowledge (XXG)

TMEM50A

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This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in
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profiles showed that TMEM50A is highly upregulated in late stage cervical cancer. This may suggest that TMEM50A has some function that may be causing or is caused directly by cervical cancer. Although few studies are available to confirm this idea, more studies may offer suggestions that use TMEM50A
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The TMEM50A gene is located on chromosome 1 p36.11 in the human (homo sapiens) genome. Its mRNA sequence is 2284 base pairs in length and includes seven exons. The coding sequence is from base pairs 151 to 624.
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profiles through NCBI, suggests that its expression may be slightly higher in parathyroid tissues and brain tissues. It also seems to be expressed higher during the neonate and juvenile development stages.
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shows that TMEM50A has four transmembrane regions. This was further confirmed by similar results found in TMEM50A orthologs and the neutral charge found in these regions using
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Tao WA, Wollscheid B, O'Brien R, et al. (2005). "Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry".
1475:"The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment" 929:
The exact structure of TMEM50A is unknown but through the use of several prediction programs, some of its most likely structural components can be assumed.
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These alternative splice sites don't affect the reading frame of the sequence and thus may not alter the function of the protein.
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this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes.
1080: 1059: 1267: 902: 1076: 140: 115: 1055: 1649:"Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs" 57: 878: 254: 153: 247: 146: 621: 65: 1432:"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" 1005: 602: 881:
predicts that TMEM50A is most likely found in the cells plasma membrane or the endoplasmic reticulum.
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along with comparing the results of known protein structures, it can be predicted that TMEM50A has:
1606:"Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing" 1375: 89: 1518:"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" 759: 738: 712: 691: 492: 1721: 1678: 1635: 1592: 1557: 1504: 1461: 1418: 1367: 1338: 1249: 1173: 1138: 896: 37: 85: 1711: 1703: 1668: 1660: 1625: 1617: 1582: 1547: 1537: 1494: 1486: 1451: 1443: 1408: 1400: 1359: 1328: 1320: 1239: 1229: 1165: 334: 265: 209: 164: 309: 1533: 1225: 1630: 1605: 1333: 1308: 889:
Through bioinformatic analysis several of TMEM50A's protein properties were predicted.
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Wagner FF, Flegel WA (Aug 2000). "RHD gene deletion occurred in the Rhesus box".
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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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Proceedings of the National Academy of Sciences of the United States of America
410: 1169: 226: 123: 73: 1571:"RHCE represents the ancestral RH position, while RHD is the duplicated gene" 521: 470: 348: 293: 280: 192: 179: 81: 1725: 1682: 1639: 1596: 1561: 1542: 1508: 1465: 1422: 1371: 1342: 1234: 1177: 1142: 1253: 823: 818: 1324: 1288: 1208:
Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S (March 1992).
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Two serine phosphorylation sites found at amino acids 82 and 84 Residue
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TMEM50A is expressed in almost all human tissues, but evidence from
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Flegel WA, Wagner FF (Dec 2000). "Molecular genetics of RH".
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Simpson JC, Wellenreuther R, Poustka A, et al. (2001).
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There is one predicted protein that interacts with TMEM50A,
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Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
905:: Several post-translational modifications are predicted: 1389:"From ORFeome to Biology: A Functional Genomics Pipeline" 1692:"DNA Cloning Using In Vitro Site-Specific Recombination" 1647:
Wiemann S, Weil B, Wellenreuther R, et al. (2001).
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Gerhard DS, Wagner L, Feingold EA, et al. (2004).
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Mehrle A, Rosenfelder H, Schupp I, et al. (2006).
482: 976:TMEM50A has several alternative splices including: 970:Alternative Splice sites were found by BLAT on the 752: 731: 705: 684: 1473:Clark HF, Gurney AL, Abaya E, et al. (2003). 1072: 1070: 1068: 1051: 1049: 1047: 870:The TMEM50A protein is 157 amino acids in length. 264: 163: 1387:Wiemann S, Arlt D, Huber W, et al. (2004). 1195:"Entrez Gene: TMEM50A transmembrane protein 50A" 16:Protein-coding gene in the species Homo sapiens 1077:GRCm38: Ensembl release 89: ENSMUSG00000028822 1034:for treatment of late stage cervical cancer. 8: 1268:"PI Program (Isoelectric Point Prediction)" 1056:GRCh38: Ensembl release 89: ENSG00000183726 1283: 1281: 918:One possible Tyrosine phosphorylation site 517: 305: 204: 101: 1715: 1690:Hartley JL, Temple GF, Brasch MA (2001). 1672: 1629: 1586: 1551: 1541: 1498: 1455: 1412: 1332: 1243: 1233: 1189: 1187: 48:, IFNRC, SMP1, transmembrane protein 50A 1043: 18: 269: 230: 225: 168: 127: 122: 7: 749: 728: 702: 681: 657: 638: 612: 593: 567: 548: 487: 405: 343: 322: 14: 944:PELE program in Biology Workbench 938:SAPS program in Biology Workbench 842:that in humans is encoded by the 491: 253: 246: 240: 217: 152: 145: 139: 114: 903:Post-translational modification 915:Site located at amino acid 74 502:More reference expression data 471:More reference expression data 1: 1569:Wagner FF, Flegel WA (2002). 1309:"The LIFEdb database in 2006" 238: 137: 1522:Proc. Natl. Acad. Sci. U.S.A 986:Removal of exons 2, 3, and 5 1744:Genes on human chromosome 1 1622:10.1093/embo-reports/kvd058 1025:Future Medical Applications 893:Molecular Weight: 17.4 KDal 1760: 1588:10.1182/blood-2001-12-0153 1319:(Database issue): D415–8. 1170:10.1182/blood.V95.12.3662 1112:"Mouse PubMed Reference:" 1094:"Human PubMed Reference:" 1029:Investigation of several 836:Transmembrane protein 50A 822: 817: 813: 806: 790: 784:Chr 4: 134.63 – 134.64 Mb 771: 756: 735: 724: 709: 688: 677: 664: 660: 645: 641: 632: 619: 615: 600: 596: 587: 574: 570: 555: 551: 542: 527: 520: 516: 499: 490: 481: 468: 417: 408: 363:epithelium of nasopharynx 355: 346: 316: 308: 304: 287: 274: 237: 216: 207: 203: 186: 173: 136: 113: 104: 100: 55: 52: 42: 35: 30: 26: 21: 983:Removal of exons 2 and 3 777:Chr 1: 25.34 – 25.36 Mb 391:mucosa of sigmoid colon 1543:10.1073/pnas.242603899 1235:10.1073/pnas.89.6.2002 913:N-Linked Glycosylation 441:stroma of bone marrow 367:palpebral conjunctiva 1013:Interacting Proteins 885:Predicted properties 271:4 D3|4 67.14 cM 232:Chromosome 4 (mouse) 130:Chromosome 1 (human) 1534:2002PNAS...9916899M 1226:1992PNAS...89.2002B 1137:(Suppl 2): 109–15. 972:UCSC genome browser 395:gingival epithelium 94:TMEM50A - orthologs 1665:10.1101/gr.GR1547R 1491:10.1101/gr.1293003 1448:10.1101/gr.2596504 1405:10.1101/gr.2576704 1325:10.1093/nar/gkj139 1289:"UniProt Database" 622:ENSMUSG00000028822 1708:10.1101/gr.143000 1528:(26): 16899–903. 1313:Nucleic Acids Res 992:Removal of exon 5 989:Removal of exon 3 980:Removal of exon 2 897:Isoelectric point 874:Cellular Location 833: 832: 829: 828: 802: 801: 767: 766: 746: 745: 720: 719: 699: 698: 673: 672: 654: 653: 628: 627: 609: 608: 583: 582: 564: 563: 512: 511: 508: 507: 477: 476: 464: 463: 402: 401: 383:corpus epididymis 300: 299: 199: 198: 1751: 1729: 1719: 1686: 1676: 1643: 1633: 1600: 1590: 1565: 1555: 1545: 1512: 1502: 1469: 1459: 1426: 1416: 1399:(10B): 2136–44. 1383: 1364:10.1038/nmeth776 1346: 1336: 1293: 1292: 1285: 1276: 1275: 1270:. Archived from 1264: 1258: 1257: 1247: 1237: 1205: 1199: 1198: 1191: 1182: 1181: 1153: 1147: 1146: 1126: 1120: 1119: 1108: 1102: 1101: 1090: 1084: 1074: 1063: 1053: 815: 814: 786: 779: 762: 750: 741: 729: 725:RefSeq (protein) 715: 703: 694: 682: 658: 639: 613: 594: 568: 549: 518: 504: 495: 488: 473: 413: 411:Top expressed in 406: 387:lactiferous duct 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: 1759: 1758: 1754: 1753: 1752: 1750: 1749: 1748: 1734: 1733: 1732: 1702:(11): 1788–95. 1689: 1646: 1603: 1568: 1515: 1485:(10): 2265–70. 1472: 1442:(10B): 2121–7. 1429: 1386: 1349: 1306: 1302: 1300:Further reading 1297: 1296: 1287: 1286: 1279: 1266: 1265: 1261: 1207: 1206: 1202: 1193: 1192: 1185: 1155: 1154: 1150: 1128: 1127: 1123: 1110: 1109: 1105: 1092: 1091: 1087: 1075: 1066: 1054: 1045: 1040: 1027: 1015: 1002: 968: 927: 887: 876: 868: 859: 824:View/Edit Mouse 819:View/Edit Human 782: 775: 772:Location (UCSC) 758: 737: 711: 690: 603:ENSG00000183726 500: 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: 1757: 1755: 1747: 1746: 1736: 1735: 1731: 1730: 1687: 1644: 1601: 1566: 1513: 1470: 1427: 1384: 1347: 1303: 1301: 1298: 1295: 1294: 1277: 1274:on 2008-10-26. 1259: 1200: 1183: 1164:(12): 3662–8. 1148: 1121: 1103: 1085: 1064: 1042: 1041: 1039: 1036: 1026: 1023: 1014: 1011: 1001: 998: 994: 993: 990: 987: 984: 981: 967: 964: 963: 962: 961: 960: 954: 940: 926: 923: 922: 921: 920: 919: 916: 909: 900: 894: 886: 883: 875: 872: 867: 864: 858: 855: 831: 830: 827: 826: 821: 811: 810: 804: 803: 800: 799: 797: 795: 788: 787: 780: 773: 769: 768: 765: 764: 754: 753: 747: 744: 743: 733: 732: 726: 722: 721: 718: 717: 707: 706: 700: 697: 696: 686: 685: 679: 675: 674: 671: 670: 662: 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Methods 1351: 1316: 1312: 1272:the original 1262: 1217: 1213: 1203: 1161: 1157: 1151: 1134: 1130: 1124: 1115: 1106: 1097: 1088: 1028: 1016: 1003: 995: 975: 969: 966:Splice Sites 928: 911:One possible 888: 877: 869: 860: 851: 843: 835: 834: 757: 736: 710: 689: 665: 646: 620: 601: 575: 556: 536: 531: 333: 326: 292:134,642,335 279:134,625,160 53:External IDs 958:Beta Sheets 951:Alpha Helix 429:granulocyte 371:pericardium 191:25,362,361 178:25,338,317 31:Identifiers 1696:Genome Res 1653:Genome Res 1479:Genome Res 1436:Genome Res 1393:Genome Res 1083:, May 2017 1062:, May 2017 1038:References 1000:Expression 953:structures 445:belly cord 337:(ortholog) 74:HomoloGene 925:Structure 760:NP_082211 739:NP_055128 713:NM_027935 692:NM_014313 522:Orthologs 82:GeneCards 1738:Category 1726:11076863 1683:11230166 1640:11256614 1610:EMBO Rep 1597:11902138 1562:12477932 1509:12975309 1466:15489334 1423:15489336 1380:20475874 1372:16094384 1343:16381901 1178:10845894 1143:10938938 1131:Vox Sang 1079:– 1058:– 879:PSORT II 808:Wikidata 433:calvaria 359:monocyte 1631:1083732 1530:Bibcode 1334:1347501 1254:1549558 1222:Bibcode 1081:Ensembl 1060:Ensembl 1019:C7orf43 899:: 5.483 866:Protein 844:TMEM50A 840:protein 634:UniProt 589:Ensembl 528:Species 453:utricle 425:decidua 312:pattern 170:1p36.11 86:TMEM50A 70:1919067 45:TMEM50A 38:Aliases 22:TMEM50A 1724:  1717:310948 1714:  1681:  1674:311072 1671:  1638:  1628:  1595:  1560:  1553:139241 1550:  1507:  1500:403697 1497:  1464:  1457:528928 1454:  1421:  1414:528930 1411:  1378:  1370:  1341:  1331:  1252:  1242:  1176:  1141:  794:search 792:PubMed 667:Q9CXL1 648:O95807 544:Entrez 483:BioGPS 437:thymus 62:605348 1575:Blood 1376:S2CID 1245:48584 1158:Blood 956:Five 934:TMHMM 838:is a 577:71817 558:23585 537:Mouse 532:Human 457:blood 335:Mouse 328:Human 275:Start 210:Mouse 174:Start 107:Human 1722:PMID 1679:PMID 1636:PMID 1593:PMID 1558:PMID 1505:PMID 1462:PMID 1419:PMID 1368:PMID 1339:PMID 1250:PMID 1174:PMID 1139:PMID 949:Two 857:Gene 847:gene 379:gums 318:Bgee 266:Band 227:Chr. 165:Band 124:Chr. 78:4469 58:OMIM 1712:PMC 1704:doi 1669:PMC 1661:doi 1626:PMC 1618:doi 1583:doi 1548:PMC 1538:doi 1495:PMC 1487:doi 1452:PMC 1444:doi 1409:PMC 1401:doi 1360:doi 1329:PMC 1321:doi 1240:PMC 1230:doi 1166:doi 1031:GEO 1006:EST 288:End 187:End 90:OMA 66:MGI 1740:: 1720:. 1710:. 1700:10 1698:. 1694:. 1677:. 1667:. 1657:11 1655:. 1651:. 1634:. 1624:. 1612:. 1608:. 1591:. 1579:99 1577:. 1573:. 1556:. 1546:. 1536:. 1526:99 1524:. 1520:. 1503:. 1493:. 1483:13 1481:. 1477:. 1460:. 1450:. 1440:14 1438:. 1434:. 1417:. 1407:. 1397:14 1395:. 1391:. 1374:. 1366:. 1354:. 1337:. 1327:. 1317:34 1315:. 1311:. 1280:^ 1248:. 1238:. 1228:. 1218:89 1216:. 1212:. 1186:^ 1172:. 1162:95 1160:. 1135:78 1133:. 1114:. 1096:. 1067:^ 1046:^ 849:. 294:bp 281:bp 193:bp 180:bp 88:; 84:: 80:; 76:: 72:; 68:: 64:; 60:: 1728:. 1706:: 1685:. 1663:: 1642:. 1620:: 1614:1 1599:. 1585:: 1564:. 1540:: 1532:: 1511:. 1489:: 1468:. 1446:: 1425:. 1403:: 1382:. 1362:: 1356:2 1345:. 1323:: 1291:. 1256:. 1232:: 1224:: 1197:. 1180:. 1168:: 1145:. 1118:. 1100:. 212:) 109:) 92::

Index

Aliases
TMEM50A
OMIM
605348
MGI
1919067
HomoloGene
4469
GeneCards
TMEM50A
OMA
TMEM50A - orthologs
Human
Chromosome 1 (human)
Chr.
Chromosome 1 (human)
Chromosome 1 (human)
Genomic location for TMEM50A
Genomic location for TMEM50A
Band
bp
bp
Mouse
Chromosome 4 (mouse)
Chr.
Chromosome 4 (mouse)
Genomic location for TMEM50A
Genomic location for TMEM50A
Band
bp

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