Knowledge

NADH dehydrogenase (ubiquinone), alpha 1

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Mamelak AJ, Kowalski J, Murphy K, Yadava N, Zahurak M, Kouba DJ, Howell BG, Tzu J, Cummins DL, Liégeois NJ, Berg K, Sauder DN (May 2005). "Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma".
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Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA (December 1998). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed".
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Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J (January 2007). "X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy".
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gene. Complex I deficiency is a disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include
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Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013).
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domain for the peripheral arm that includes all the known redox centers and the NADH binding site. NDUFA1 is one of about 31 hydrophobic subunits that form the transmembrane region of Complex I. It has been noted that the
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Mayr JA, Bodamer O, Haack TB, Zimmermann FA, Madignier F, Prokisch H, Rauscher C, Koch J, Sperl W (August 2011). "Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency".
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Zhuchenko O, Wehnert M, Bailey J, Sun ZS, Lee CC (November 1996). "Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I".
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Yu-Wai-Man P, Brown DT, Wehnert MS, Zeviani M, Carrara F, Turnbull DM, Chinnery PF (June 2002). "NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy".
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Frattini A, Faranda S, Bagnasco L, Patrosso C, Nulli P, Zucchi I, Vezzoni P (June 1997). "Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25".
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Tretter L, Sipos I, Adam-Vizi V (March 2004). "Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease".
1846:"Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits" 1145: 1043:
two-domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the
1272: 1254: 1950: 902: 252: 1364: 1064: 909: 229: 1336: 1181: 1241: 1220: 1044: 1008: 976: 1237: 1736:"Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I" 151: 126: 1216: 980: 68: 1071:. However, NDUFA1 is an accessory subunit of the complex that is believed not to be involved in catalysis. Initially, 265: 164: 59:, CI-MWFE, MWFE, ZNF183, NADH dehydrogenase (ubiquinone), alpha 1, NADH:ubiquinone oxidoreductase subunit A1, MC1DN12 1513: 258: 157: 1165: 1060: 984: 747: 76: 1955: 728: 1099:). The flow of electrons changes the redox state of the protein, resulting in a conformational change and p 1149: 1844:
Vogel RO, Dieteren CE, van den Heuvel LP, Willems PH, Smeitink JA, Koopman WJ, Nijtmans LG (March 2007).
1683:"The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria" 1003:
at position 24 and it spans 5,176 base pairs. The NDUFA1 gene produces an 8.1 kDa protein composed of 70
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shift of the ionizable side chain, which pumps four hydrogen ions out of the mitochondrial matrix.
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that affect this gene have included the G94C mutation, which has been associated with
617: 612: 596: 591: 586: 581: 576: 571: 566: 561: 545: 1944: 1934: 1820: 1717: 1682: 1430: 1383:"Integration of cardiac proteome biology and medicine by a specialized knowledgebase" 1137: 1032: 1015: 532: 1919: 1836: 1798: 1614: 80: 1337:"Entrez Gene: NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa" 1153: 1117: 1011:, the largest of the respiratory complexes. The structure is L-shaped with a long, 1000: 338: 117: 1398: 1111:
Mitochondrial complex I deficiency (MT-C1D) is caused by mutations affecting the
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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
1452:"NDUFA1 - NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1" 1431:"NDUFA1 - NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1" 1039:
hydrophilic domain interacting with globular subunits of Complex I. The highly
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in the prosthetic arm and finally to coenzyme Q10 (CoQ), which is reduced to
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including 3 co-complex interactions. NDUFA1 appears to interact with
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Yadava N, Potluri P, Smith EN, Bisevac A, Scheffler IE (June 2002).
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Au HC, Seo BB, Matsuno-Yagi A, Yagi T, Scheffler IE (April 1999).
987:. Mutations in the NDUFA1 gene are associated with mitochondrial 632: 628: 1072: 972: 72: 1357:
Fundamentals of biochemistry : life at the molecular level
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Donald Voet; Judith G. Voet; Charlotte W. Pratt (2013). "18".
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hydrophobic domain has the potential to be folded into an
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Cardiac Organellar Protein Atlas Knowledgebase (COPaKB)
1359:(4th ed.). Hoboken, NJ: Wiley. pp. 581–620. 1075:
binds to Complex I and transfers two electrons to the
1544:"Human mitochondrial complex I in health and disease" 493: 1514:"7 binary interactions found for search term NDUFA1" 1087:. The electrons are transferred through a series of 999:
The NDUFA1 gene is located on the long q arm of the
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mitochondrial electron transport, NADH to ubiquinone
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Biochemical and Biophysical Research Communications
878: 857: 831: 810: 1233: 1231: 1229: 1212: 1210: 1208: 618:mitochondrial respiratory chain complex I assembly 275: 174: 983:and is the largest of the five complexes of the 962:NADH dehydrogenase 1 alpha subcomplex subunit 1 27:Protein-coding gene in the species Homo sapiens 1238:GRCm38: Ensembl release 89: ENSMUSG00000016427 1055:The human NDUFA1 gene codes for a subunit of 1047:complex at the inner mitochondrial membrane. 8: 1217:GRCh38: Ensembl release 89: ENSG00000125356 1931:United States National Library of Medicine 1542:Smeitink J, van den Heuvel L (June 1999). 1446: 1444: 643: 528: 316: 215: 112: 1871: 1861: 1751: 1716: 1706: 1567: 1406: 1350: 1348: 1346: 572:mitochondrial respiratory chain complex I 1929:This article incorporates text from the 1331: 1329: 1327: 1325: 1323: 1321: 546:NADH dehydrogenase (ubiquinone) activity 1204: 1180:NDUFA1 has been shown to have 7 binary 1456:UniProt: a hub for protein information 29: 1518:IntAct Molecular Interaction Database 975:. The NDUFA1 protein is a subunit of 386:cardiac muscle tissue of right atrium 280: 241: 236: 179: 138: 133: 7: 1007:. NDUFA1 is a subunit of the enzyme 444:vestibular membrane of cochlear duct 1850:The Journal of Biological Chemistry 1740:The Journal of Biological Chemistry 1146:Leber's hereditary optic neuropathy 1599:10.1023/B:NERE.0000014827.94562.4b 1548:American Journal of Human Genetics 875: 854: 828: 807: 783: 764: 738: 719: 693: 674: 498: 416: 354: 333: 25: 1480:Molecular Genetics and Metabolism 1172:ratio, and complex I deficiency. 1083:(FMN) prosthetic arm to form FMNH 1063:, which transfers electrons from 968:that in humans is encoded by the 1821:10.1111/j.0906-6705.2005.00278.x 502: 264: 257: 251: 228: 163: 156: 150: 125: 1045:NADH dehydrogenase (ubiquinone) 1009:NADH dehydrogenase (ubiquinone) 977:NADH dehydrogenase (ubiquinone) 562:integral component of membrane 513:More reference expression data 482:More reference expression data 1: 1636:10.1016/S0378-1119(97)00108-X 1399:10.1161/CIRCRESAHA.113.301151 448:vestibular sensory epithelium 249: 148: 1182:protein-protein interactions 981:mitochondrial inner membrane 582:mitochondrial inner membrane 432:Epithelium of choroid plexus 370:myocardium of left ventricle 1951:Genes on human chromosome X 1492:10.1016/j.ymgme.2011.04.010 1089:iron-sulfur (Fe-S) clusters 1972: 979:, which is located in the 390:mucosa of transverse colon 1273:"Mouse PubMed Reference:" 1255:"Human PubMed Reference:" 948: 943: 939: 932: 916: 903:Chr X: 119.87 – 119.88 Mb 897: 882: 861: 850: 835: 814: 803: 790: 786: 771: 767: 758: 745: 741: 726: 722: 713: 700: 696: 681: 677: 668: 653: 646: 642: 626: 531: 527: 510: 501: 492: 479: 428: 419: 366: 357: 327: 319: 315: 298: 285: 248: 227: 218: 214: 197: 184: 147: 124: 115: 111: 66: 63: 53: 46: 41: 37: 32: 1809:Experimental Dermatology 1458:. The UniProt Consortium 985:electron transport chain 910:Chr X: 36.45 – 36.45 Mb 592:mitochondrial membranes 1863:10.1074/jbc.M609410200 1783:10.1212/wnl.58.12.1861 1753:10.1074/jbc.M202016200 1708:10.1073/pnas.96.8.4354 1666:10.1006/bbrc.1998.9786 1587:Neurochemical Research 1304:10.1006/geno.1996.0561 1033:mitochondrial membrane 1107:Clinical significance 1081:flavin mononucleotide 1387:Circulation Research 1166:beta-hydroxybutyrate 1148:, and some forms of 440:facial motor nucleus 243:X chromosome (mouse) 141:X chromosome (human) 1892:Annals of Neurology 1699:1999PNAS...96.4354A 1152:. Mutations on the 1150:Parkinson's disease 1031:spanning the inner 1933:, which is in the 1077:isoalloxazine ring 748:ENSMUSG00000016427 606:Biological process 555:Cellular component 539:Molecular function 468:extraocular muscle 452:epithelium of lens 105:NDUFA1 - orthologs 1904:10.1002/ana.21036 1120:with progressive 1061:respiratory chain 959: 958: 955: 954: 928: 927: 893: 892: 872: 871: 846: 845: 825: 824: 799: 798: 780: 779: 754: 753: 735: 734: 709: 708: 690: 689: 638: 637: 523: 522: 519: 518: 488: 487: 475: 474: 413: 412: 311: 310: 210: 209: 16:(Redirected from 1963: 1923: 1885: 1875: 1865: 1840: 1802: 1765: 1755: 1746:(24): 21221–30. 1730: 1720: 1710: 1677: 1647: 1618: 1581: 1571: 1529: 1528: 1526: 1525: 1510: 1504: 1503: 1474: 1468: 1467: 1465: 1463: 1448: 1439: 1438: 1427: 1421: 1420: 1410: 1377: 1371: 1370: 1352: 1341: 1340: 1333: 1316: 1315: 1287: 1281: 1280: 1269: 1263: 1262: 1251: 1245: 1235: 1224: 1214: 941: 940: 912: 905: 888: 876: 867: 855: 851:RefSeq (protein) 841: 829: 820: 808: 784: 765: 739: 720: 694: 675: 644: 529: 515: 506: 499: 484: 464:lobe of prostate 436:seminal vesicula 424: 422:Top expressed in 417: 394:Brodmann area 10 362: 360:Top expressed in 355: 334: 317: 307: 294: 283: 268: 261: 255: 244: 232: 216: 206: 193: 182: 167: 160: 154: 143: 129: 113: 107: 58: 51: 30: 21: 1971: 1970: 1966: 1965: 1964: 1962: 1961: 1960: 1941: 1940: 1926: 1888: 1856:(10): 7582–90. 1843: 1805: 1768: 1733: 1680: 1650: 1621: 1584: 1541: 1537: 1535:Further reading 1532: 1523: 1521: 1512: 1511: 1507: 1476: 1475: 1471: 1461: 1459: 1450: 1449: 1442: 1429: 1428: 1424: 1379: 1378: 1374: 1367: 1354: 1353: 1344: 1335: 1334: 1319: 1289: 1288: 1284: 1271: 1270: 1266: 1253: 1252: 1248: 1236: 1227: 1215: 1206: 1202: 1178: 1158:lactic acidosis 1124:, non-specific 1109: 1098: 1086: 1053: 997: 950:View/Edit Mouse 945:View/Edit Human 908: 901: 898:Location (UCSC) 884: 863: 837: 816: 729:ENSG00000125356 622: 601: 550: 511: 480: 471: 466: 462: 458: 454: 450: 446: 442: 438: 434: 420: 409: 406:muscle of thigh 404: 402:Brodmann area 9 400: 396: 392: 388: 384: 380: 376: 374:right ventricle 372: 358: 302: 289: 281: 271: 270: 269: 262: 242: 219:Gene location ( 201: 188: 180: 170: 169: 168: 161: 139: 116:Gene location ( 67: 54: 47: 28: 23: 22: 15: 12: 11: 5: 1969: 1967: 1959: 1958: 1956:Human proteins 1953: 1943: 1942: 1925: 1924: 1886: 1841: 1803: 1777:(12): 1861–2. 1766: 1731: 1678: 1648: 1619: 1582: 1560:10.1086/302432 1554:(6): 1505–10. 1538: 1536: 1533: 1531: 1530: 1505: 1469: 1440: 1422: 1393:(9): 1043–53. 1372: 1365: 1342: 1317: 1282: 1264: 1246: 1225: 1203: 1201: 1198: 1177: 1174: 1142:Leigh syndrome 1130:cardiomyopathy 1126:encephalopathy 1122:leukodystrophy 1108: 1105: 1096: 1084: 1052: 1049: 996: 993: 957: 956: 953: 952: 947: 937: 936: 930: 929: 926: 925: 923: 921: 914: 913: 906: 899: 895: 894: 891: 890: 880: 879: 873: 870: 869: 859: 858: 852: 848: 847: 844: 843: 833: 832: 826: 823: 822: 812: 811: 805: 801: 800: 797: 796: 788: 787: 781: 778: 777: 769: 768: 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590: 588: 585: 583: 580: 578: 575: 573: 570: 568: 567:mitochondrion 565: 563: 560: 559: 557: 554: 553: 547: 544: 543: 541: 538: 537: 534: 533:Gene ontology 530: 526: 514: 509: 505: 500: 497: 495: 491: 483: 478: 467: 463: 459: 455: 451: 447: 443: 439: 435: 431: 430: 427: 423: 418: 415: 405: 401: 398:renal medulla 397: 393: 389: 385: 382:right auricle 381: 378:apex of heart 377: 373: 369: 368: 365: 361: 356: 353: 352: 349: 347: 343: 341: 340: 336: 335: 332: 330: 326: 322: 318: 314: 306: 301: 297: 293: 288: 282:X|X A3.3 278: 274: 267: 260: 254: 247: 239: 235: 231: 226: 222: 217: 213: 205: 200: 196: 192: 187: 177: 173: 166: 159: 153: 146: 142: 136: 132: 128: 123: 119: 114: 110: 106: 102: 98: 94: 90: 86: 82: 78: 74: 70: 62: 57: 50: 45: 40: 36: 31: 19: 1928: 1927: 1898:(1): 73–83. 1895: 1891: 1853: 1849: 1812: 1808: 1774: 1770: 1743: 1739: 1690: 1686: 1657: 1653: 1630:(2): 291–8. 1627: 1623: 1590: 1586: 1551: 1547: 1522:. Retrieved 1517: 1508: 1483: 1479: 1472: 1460:. Retrieved 1455: 1434: 1425: 1390: 1386: 1375: 1356: 1298:(3): 281–8. 1295: 1291: 1285: 1276: 1267: 1258: 1249: 1179: 1176:Interactions 1170:acetoacetate 1164:, increased 1154:X chromosome 1118:macrocephaly 1112: 1110: 1100: 1054: 1001:X chromosome 998: 991:deficiency. 969: 961: 960: 883: 862: 836: 815: 791: 772: 746: 727: 701: 682: 662: 657: 460:right kidney 344: 337: 202:119,876,662 189:119,871,832 64:External IDs 1029:alpha helix 1020:hydrophilic 1013:hydrophobic 1005:amino acids 577:respirasome 303:36,454,816 290:36,451,241 42:Identifiers 1945:Categories 1873:2066/52607 1524:2018-08-25 1520:. EMBL-EBI 1244:, May 2017 1223:, May 2017 1200:References 1069:ubiquinone 1037:C-terminal 1025:N-terminal 348:(ortholog) 85:HomoloGene 1771:Neurology 1162:hypotonia 1093:ubiquinol 1057:Complex I 1041:conserved 995:Structure 989:Complex I 886:NP_062316 865:NP_004532 839:NM_019443 818:NM_004541 648:Orthologs 93:GeneCards 1920:25862677 1912:17262856 1882:17209039 1837:24497641 1829:15854127 1799:36459818 1791:12084895 1762:11937507 1727:10200266 1615:38103900 1607:15038604 1578:10330338 1500:21596602 1462:24 March 1417:23965338 1292:Genomics 1240:– 1219:– 1134:myopathy 1051:Function 934:Wikidata 627:Sources: 587:membrane 1695:Bibcode 1674:9878551 1644:9224902 1569:1377894 1408:4076475 1312:8938439 1242:Ensembl 1221:Ensembl 1079:of the 1059:of the 1035:with a 966:protein 760:UniProt 715:Ensembl 654:Species 633:QuickGO 597:cytosol 323:pattern 81:1929511 49:Aliases 1918:  1910:  1880:  1835:  1827:  1797:  1789:  1760:  1725:  1715:  1672:  1642:  1613:  1605:  1576:  1566:  1498:  1415:  1405:  1363:  1310:  1194:SMURF2 1192:, and 1190:TRIM63 1186:GOLGB1 1113:NDUFA1 970:NDUFA1 920:search 918:PubMed 793:O35683 774:O15239 670:Entrez 494:BioGPS 97:NDUFA1 73:300078 56:NDUFA1 33:NDUFA1 18:NDUFA1 1916:S2CID 1833:S2CID 1795:S2CID 1718:16336 1611:S2CID 1095:(CoQH 964:is a 703:54405 663:Mouse 658:Human 629:Amigo 456:molar 346:Mouse 339:Human 286:Start 221:Mouse 185:Start 118:Human 1908:PMID 1878:PMID 1825:PMID 1787:PMID 1758:PMID 1723:PMID 1670:PMID 1640:PMID 1624:Gene 1603:PMID 1574:PMID 1496:PMID 1464:2015 1413:PMID 1361:ISBN 1308:PMID 1073:NADH 1065:NADH 973:gene 684:4694 329:Bgee 277:Band 238:Chr. 181:Xq24 176:Band 135:Chr. 89:3337 69:OMIM 1900:doi 1868:hdl 1858:doi 1854:282 1817:doi 1779:doi 1748:doi 1744:277 1713:PMC 1703:doi 1662:doi 1658:253 1632:doi 1628:192 1595:doi 1564:PMC 1556:doi 1488:doi 1484:103 1403:PMC 1395:doi 1391:113 1300:doi 1067:to 299:End 198:End 101:OMA 77:MGI 1947:: 1914:. 1906:. 1896:61 1894:. 1876:. 1866:. 1852:. 1848:. 1831:. 1823:. 1813:14 1811:. 1793:. 1785:. 1775:58 1773:. 1756:. 1742:. 1738:. 1721:. 1711:. 1701:. 1691:96 1689:. 1685:. 1668:. 1656:. 1638:. 1626:. 1609:. 1601:. 1591:29 1589:. 1572:. 1562:. 1552:64 1550:. 1546:. 1516:. 1494:. 1482:. 1454:. 1443:^ 1433:. 1411:. 1401:. 1389:. 1385:. 1345:^ 1320:^ 1306:. 1296:37 1294:. 1275:. 1257:. 1228:^ 1207:^ 1196:. 1188:, 1160:, 1144:, 1140:, 1136:, 1132:, 1128:, 631:/ 305:bp 292:bp 204:bp 191:bp 99:; 95:: 91:; 87:: 83:; 79:: 75:; 71:: 1937:. 1922:. 1902:: 1884:. 1870:: 1860:: 1839:. 1819:: 1801:. 1781:: 1764:. 1750:: 1729:. 1705:: 1697:: 1676:. 1664:: 1646:. 1634:: 1617:. 1597:: 1580:. 1558:: 1527:. 1502:. 1490:: 1466:. 1437:. 1419:. 1397:: 1369:. 1339:. 1314:. 1302:: 1279:. 1261:. 1168:/ 1101:K 1097:2 1085:2 223:) 120:) 103:: 20:)

Index

NDUFA1
Aliases
NDUFA1
OMIM
300078
MGI
1929511
HomoloGene
3337
GeneCards
NDUFA1
OMA
NDUFA1 - orthologs
Human
X chromosome (human)
Chr.
X chromosome (human)
X chromosome (human)
Genomic location for NDUFA1
Genomic location for NDUFA1
Band
bp
bp
Mouse
X chromosome (mouse)
Chr.
X chromosome (mouse)
Genomic location for NDUFA1
Genomic location for NDUFA1
Band

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