1124:, present a substantial deficit in keratinocyte transglutaminase activity. It was concluded that those afflicted, display a decrease in activity of the enzyme, as a result of a lessened amount of transcription of the human TGK gene. This lack of protein stems from a common mutation of the TGK gene, which exists in two possible variants, found at the TGM1 locus on the 14q11 chromosome, as exhibited amongst all the subjects of the study. Such mutations were of the compound heterozygous or homozygous variety, which leads to the expression of lamellar ichthyosis as a result of abnormal cross-linkaging of the cornified cell envelope.
308:
285:
182:
207:
559:
314:
213:
1101:
along the biological membrane of these fully formed epithelial cells, preventing the cell from undergoing chemical and or physical damages. A lesser amount of enzymatic activity, of the TGK genes (5-10%), lies within the cytoplasmic fraction of such cells, allowing for finalization of the cross-linkaging necessary for the full functionality of the cornified cell envelope.
1100:
In terminally differentiated stratified squamous epithelia, the cornified cell envelope protein linkages allow for a structurally fortified, yet flexible (15 nm thick) layer to the place of the cell membrane, acting as a highly insoluble barrier. The expression of the enzyme is most highly exhibited
1096:
Keratinocyte transglutaminase enzymes serve to specifically catalyze the development of the cornified cell envelope, a defining characteristic of epidermal keratinocytes that have undergone the termination of differentiation. The specific cross linkages formed by keratinocyte transglutaminase are
61:
2195:
Petit E, Huber M, Rochat A, Bodemer C, Teillac-Hamel D, Müh JP, et al. (1998). "Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity".
1233:"Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z"
1922:
Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ (March 1995). "Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis".
1642:
Schroeder WT, Thacher SM, Stewart-Galetka S, Annarella M, Chema D, Siciliano MJ, et al. (July 1992). "Type I keratinocyte transglutaminase: expression in human skin and psoriasis".
1741:
Yamanishi K, Liew FM, Konishi K, Yasuno H, Doi H, Hirano J, Fukushima S (March 1991). "Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture".
2714:
2006:"HIV-1 gp120-dependent induction of apoptosis in antigen-specific human T cell clones is characterized by 'tissue' transglutaminase expression and prevented by cyclosporin A"
321:
220:
1959:
Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, et al. (January 1995). "Mutations of keratinocyte transglutaminase in lamellar ichthyosis".
1330:
Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, et al. (January 1995). "Mutations of keratinocyte transglutaminase in lamellar ichthyosis".
1097:
between n^ε-(γ-glutamyl)lysine residues which develop into isopeptide protein-protein linkages that adds to the stabilization of the cornified cell envelope.
2506:
2501:
2307:
792:
773:
143:
2489:
2049:"The structure of the transglutaminase 1 enzyme. Deletion cloning reveals domains that regulate its specific activity and substrate specificity"
2689:
2496:
2937:
1213:
1195:
2484:
1854:"Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein"
307:
58:
2656:
2624:
2119:"Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population"
1012:
1889:"Human-immunodeficiency-virus transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro"
1019:
284:
2440:
2378:
2871:
2435:
2430:
2084:"The transglutaminase 1 enzyme is variably acylated by myristate and palmitate during differentiation in epidermal keratinocytes"
1272:
1708:"The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones"
2373:
1182:
1161:
2388:
2300:
206:
181:
2162:"The fate of trichohyalin. Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases"
1178:
2533:
2447:
1157:
2474:
2368:
2363:
1770:
Polakowska R, Herting E, Goldsmith LA (February 1991). "Isolation of cDNA for human epidermal type I transglutaminase".
123:
2636:
2410:
1273:"Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"
320:
219:
2719:
2682:
2646:
2479:
2353:
2594:
2570:
2521:
2405:
2358:
2333:
2293:
313:
212:
2599:
2324:
2279:
1120:
A study on the mutation of keratinocyte transglutaminase (TGK) came to conclude that those affected with
1114:
841:
131:
2747:
2641:
2548:
822:
818:
2724:
2609:
2604:
2469:
2942:
2906:
2675:
2589:
2584:
1121:
1110:
195:
2651:
2538:
2525:
2425:
1968:
1812:
1602:
1339:
110:
2383:
1521:"Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function"
991:
987:
936:
932:
2845:
2035:
1992:
1947:
1447:
1363:
155:
1671:
Yamanishi K, Inazawa J, Liew FM, Nonomura K, Ariyama T, Yasuno H, et al. (September 1992).
995:
966:
940:
911:
2614:
2343:
2256:
2213:
2183:
2148:
2105:
2070:
2027:
1984:
1939:
1910:
1875:
1840:
1787:
1758:
1729:
1694:
1659:
1630:
1577:
1542:
1496:
1439:
1404:
1355:
1309:
1254:
103:
51:
2225:
Iwasaki W, Nagata K, Hatanaka H, Inui T, Kimura T, Muramatsu T, et al. (December 1997).
1799:
Phillips MA, Stewart BE, Qin Q, Chakravarty R, Floyd EE, Jetten AM, Rice RH (December 1990).
2881:
2734:
2579:
2543:
2246:
2238:
2205:
2173:
2138:
2130:
2095:
2060:
2017:
1976:
1931:
1900:
1865:
1830:
1820:
1779:
1750:
1719:
1684:
1651:
1620:
1610:
1567:
1532:
1486:
1478:
1431:
1394:
1347:
1299:
1244:
1075:
400:
331:
275:
230:
2160:
Tarcsa E, Marekov LN, Andreoli J, Idler WW, Candi E, Chung SI, Steinert PM (October 1997).
2117:
Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, et al. (September 1997).
2855:
2850:
2840:
2835:
2830:
2825:
2820:
2815:
2619:
2320:
2285:
558:
375:
151:
2275:
1972:
1816:
1606:
1591:"Organization and evolution of the human epidermal keratinocyte transglutaminase I gene"
1343:
2805:
2800:
2795:
2790:
2785:
2780:
2775:
2770:
2765:
2251:
2226:
2143:
2118:
1905:
1888:
1852:
Candi E, Melino G, Mei G, Tarcsa E, Chung SI, Marekov LN, Steinert PM (November 1995).
1491:
1466:
2065:
2048:
1724:
1707:
1689:
1672:
1572:
1555:
1537:
1520:
1435:
707:
702:
697:
692:
687:
682:
677:
661:
656:
651:
646:
641:
636:
620:
615:
610:
605:
600:
2931:
2916:
2706:
2022:
2005:
1835:
1800:
1754:
1625:
1590:
1399:
1382:
1304:
1287:
587:
2039:
1996:
1951:
1451:
1367:
2901:
2698:
1133:
393:
172:
1887:
Mariniello L, Esposito C, Di Pierro P, Cozzolino A, Pucci P, Porta R (July 1993).
135:
1783:
1655:
159:
2886:
2757:
2558:
2316:
1422:
Kim SY, Jeitner TM, Steinert PM (January 2002). "Transglutaminases in disease".
1218:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1200:
National Center for
Biotechnology Information, U.S. National Library of Medicine
2242:
1805:
Proceedings of the
National Academy of Sciences of the United States of America
1595:
Proceedings of the
National Academy of Sciences of the United States of America
476:
2891:
292:
189:
139:
2178:
2161:
2100:
2083:
2004:
Amendola A, Lombardi G, Oliverio S, Colizzi V, Piacentini M (February 1994).
1870:
1853:
2896:
1980:
1825:
1615:
1351:
1158:
ENSG00000285348 GRCh38: Ensembl release 89: ENSG00000092295, ENSG00000285348
737:
536:
414:
359:
346:
258:
245:
147:
1467:"Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis"
1443:
1408:
1313:
1258:
1249:
1232:
2260:
2217:
2187:
2152:
2109:
2074:
2031:
1988:
1943:
1914:
1879:
1844:
1791:
1762:
1733:
1698:
1663:
1634:
1581:
1546:
1500:
1359:
1059:
1054:
2911:
2348:
1589:
Polakowska RR, Eickbush T, Falciano V, Razvi F, Goldsmith LA (May 1992).
1043:
886:
867:
1706:
Kim HC, Idler WW, Kim IG, Han JH, Chung SI, Steinert PM (January 1991).
1554:
Kim IG, McBride OW, Wang M, Kim SY, Idler WW, Steinert PM (April 1992).
1935:
853:
804:
2209:
80:
2629:
2457:
2452:
2393:
1078:
1027:
759:
2227:"Solution structure of midkine, a new heparin-binding growth factor"
17:
2134:
1482:
1381:
Eckert RL, Sturniolo MT, Broome AM, Ruse M, Rorke EA (March 2005).
1286:
Eckert RL, Sturniolo MT, Broome AM, Ruse M, Rorke EA (March 2005).
2876:
2810:
2511:
2398:
1556:"Structure and organization of the human transglutaminase 1 gene"
722:
718:
2415:
1085:
127:
2671:
2667:
2289:
1113:. Epidermal transglutaminase is the autoantigen, in humans, of
567:
1465:
Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A (May 1998).
114:, ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK, transglutaminase 1
2082:
Steinert PM, Kim SY, Chung SI, Marekov LN (October 1996).
383:
2047:
Kim SY, Kim IG, Chung SI, Steinert PM (November 1994).
548:
2715:
Branched-chain alpha-keto acid dehydrogenase complex
1801:"Primary structure of keratinocyte transglutaminase"
1673:"Structure of the gene for human transglutaminase 1"
621:
protein-glutamine gamma-glutamyltransferase activity
2864:
2756:
2733:
2705:
2569:
2520:
2332:
1743:
980:
959:
925:
904:
1519:Phillips MA, Stewart BE, Rice RH (February 1992).
1231:Grenard P, Bates MK, Aeschlimann D (August 2001).
1174:
1172:
1170:
1153:
1151:
1149:
688:positive regulation of keratinocyte proliferation
330:
229:
1179:GRCm38: Ensembl release 89: ENSMUSG00000022218
2683:
2301:
1072:Protein-glutamine gamma-glutamyltransferase K
8:
2507:2-acylglycerol-3-phosphate O-acyltransferase
2502:1-acylglycerol-3-phosphate O-acyltransferase
1325:
1323:
2690:
2676:
2668:
2308:
2294:
2286:
733:
583:
371:
270:
167:
69:
2278:at the U.S. National Library of Medicine
2250:
2177:
2142:
2099:
2064:
2021:
1904:
1869:
1834:
1824:
1723:
1688:
1624:
1614:
1571:
1536:
1490:
1398:
1303:
1248:
1772:The Journal of Investigative Dermatology
1644:The Journal of Investigative Dermatology
1387:The Journal of Investigative Dermatology
1383:"Transglutaminase function in epidermis"
1292:The Journal of Investigative Dermatology
1288:"Transglutaminase function in epidermis"
1145:
2497:Glycerol-3-phosphate O-acyltransferase
29:
2490:Lecithin—cholesterol acyltransferase
335:
296:
291:
234:
193:
188:
7:
2485:Glyceronephosphate O-acyltransferase
2657:Sulfoacetaldehyde acetyltransferase
2349:Acetyl-Coenzyme A acetyltransferase
2166:The Journal of Biological Chemistry
2088:The Journal of Biological Chemistry
2053:The Journal of Biological Chemistry
1858:The Journal of Biological Chemistry
1712:The Journal of Biological Chemistry
1677:The Journal of Biological Chemistry
1560:The Journal of Biological Chemistry
1525:The Journal of Biological Chemistry
1237:The Journal of Biological Chemistry
2573:: converted into alkyl on transfer
2198:European Journal of Human Genetics
2123:American Journal of Human Genetics
1906:10.1111/j.1432-1033.1993.tb18011.x
1471:American Journal of Human Genetics
977:
956:
922:
901:
877:
858:
832:
809:
783:
764:
553:
471:
409:
388:
25:
2379:Chloramphenicol acetyltransferase
1081:that in humans is encoded by the
693:positive regulation of cell cycle
2431:Carnitine O-palmitoyltransferase
1893:European Journal of Biochemistry
1400:10.1111/j.0022-202X.2005.23627.x
1305:10.1111/j.0022-202X.2005.23627.x
1109:A deficiency is associated with
557:
319:
312:
306:
283:
218:
211:
205:
180:
2374:Beta-galactoside transacetylase
637:intrinsic component of membrane
2389:Serotonin N-acetyl transferase
2336:: other than amino-acyl groups
568:More reference expression data
537:More reference expression data
453:olfactory zone of nasal mucosa
437:right hemisphere of cerebellum
1:
2554:Keratinocyte transglutaminase
2534:Gamma-glutamyl transpeptidase
2448:Serine C-palmitoyltransferase
2066:10.1016/S0021-9258(18)46883-4
1725:10.1016/S0021-9258(18)52469-8
1690:10.1016/S0021-9258(19)37122-4
1573:10.1016/S0021-9258(18)42573-2
1538:10.1016/S0021-9258(18)45875-9
1436:10.1016/s0197-0186(01)00064-x
304:
203:
27:Protein-coding gene in humans
2938:Genes on human chromosome 14
2475:Aminolevulinic acid synthase
2369:Acetyl-CoA C-acyltransferase
2364:Dihydrolipoyl transacetylase
2023:10.1016/0014-5793(94)80427-3
1784:10.1111/1523-1747.ep12464554
1755:10.1016/0006-291X(91)91651-R
1656:10.1111/1523-1747.ep12611394
1424:Neurochemistry International
698:keratinocyte differentiation
2637:2-hydroxyglutarate synthase
2959:
2743:Epidermal transglutaminase
2720:Oxoglutarate dehydrogenase
2647:2-isopropylmalate synthase
2480:Beta-ketoacyl-ACP synthase
2354:N-Acetylglutamate synthase
678:cell envelope organization
2595:Decylhomocitrate synthase
2406:Histone acetyltransferase
2359:Choline acetyltransferase
1214:"Mouse PubMed Reference:"
1196:"Human PubMed Reference:"
1058:
1053:
1049:
1042:
1026:
1007:
984:
963:
952:
929:
908:
897:
884:
880:
865:
861:
852:
839:
835:
816:
812:
803:
790:
786:
771:
767:
758:
743:
736:
732:
716:
586:
582:
565:
556:
547:
534:
483:
474:
421:
412:
382:
374:
370:
353:
340:
303:
282:
273:
269:
252:
239:
202:
179:
170:
166:
121:
118:
108:
101:
96:
77:
72:
55:
50:
45:
41:
37:
32:
2897:Filaggrin (Citrullinate)
2600:2-methylcitrate synthase
2280:Medical Subject Headings
2243:10.1093/emboj/16.23.6936
2179:10.1074/jbc.272.44.27893
2101:10.1074/jbc.271.39.24105
1871:10.1074/jbc.270.44.26382
1115:dermatitis herpetiformis
1020:Chr 14: 55.94 – 55.95 Mb
1013:Chr 14: 24.25 – 24.26 Mb
606:acyltransferase activity
2748:Tissue transglutaminase
2642:3-propylmalate synthase
2549:Tissue transglutaminase
1981:10.1126/science.7824952
1826:10.1073/pnas.87.23.9333
1616:10.1073/pnas.89.10.4476
1352:10.1126/science.7824952
2872:Acetylcholine receptor
2725:Pyruvate dehydrogenase
2610:3-ethylmalate synthase
2605:2-ethylmalate synthase
2470:Acyltransferase like 2
1250:10.1074/jbc.M102553200
2907:Sp100 nuclear antigen
2590:Citrate (Re)-synthase
2585:Decylcitrate synthase
2526:Aminoacyltransferases
2426:palmitoyltransferases
1122:ichthyosis lamellaris
1111:ichthyosis lamellaris
708:peptide cross-linking
642:extracellular exosome
449:minor salivary glands
298:Chromosome 14 (mouse)
196:Chromosome 14 (human)
2652:Homocitrate synthase
2539:Peptidyl transferase
601:transferase activity
515:skin of external ear
73:List of PDB id codes
46:Available structures
2384:N-acetyltransferase
1973:1995Sci...267..525H
1817:1990PNAS...87.9333P
1607:1992PNAS...89.4476P
1344:1995Sci...267..525H
2344:acetyltransferases
1936:10.1038/ng0395-279
842:ENSMUSG00000022218
671:Biological process
652:cornified envelope
630:Cellular component
594:Molecular function
2925:
2924:
2665:
2664:
2615:ATP citrate lyase
2210:10.1159/000484767
2172:(44): 27893–901.
1069:
1068:
1065:
1064:
1038:
1037:
1003:
1002:
974:
973:
948:
947:
919:
918:
893:
892:
874:
873:
848:
847:
829:
828:
799:
798:
780:
779:
728:
727:
616:metal ion binding
578:
577:
574:
573:
543:
542:
530:
529:
468:
467:
366:
365:
265:
264:
92:
91:
88:
87:
56:Ortholog search:
16:(Redirected from
2950:
2882:Apolipoprotein H
2735:Transglutaminase
2692:
2685:
2678:
2669:
2625:HMG-CoA synthase
2580:Citrate synthase
2544:Transglutaminase
2321:acyltransferases
2310:
2303:
2296:
2287:
2264:
2254:
2231:The EMBO Journal
2221:
2191:
2181:
2156:
2146:
2113:
2103:
2094:(42): 26242–50.
2078:
2068:
2059:(45): 27979–86.
2043:
2025:
2000:
1955:
1918:
1908:
1883:
1873:
1864:(44): 26382–90.
1848:
1838:
1828:
1795:
1766:
1737:
1727:
1702:
1692:
1683:(25): 17858–63.
1667:
1638:
1628:
1618:
1585:
1575:
1550:
1540:
1505:
1504:
1494:
1462:
1456:
1455:
1419:
1413:
1412:
1402:
1378:
1372:
1371:
1327:
1318:
1317:
1307:
1283:
1277:
1276:
1269:
1263:
1262:
1252:
1243:(35): 33066–78.
1228:
1222:
1221:
1210:
1204:
1203:
1192:
1186:
1176:
1165:
1155:
1076:transglutaminase
1051:
1050:
1022:
1015:
998:
978:
969:
957:
953:RefSeq (protein)
943:
923:
914:
902:
878:
859:
833:
810:
784:
765:
734:
584:
570:
561:
554:
539:
479:
477:Top expressed in
472:
417:
415:Top expressed in
410:
389:
372:
362:
349:
338:
323:
316:
310:
299:
287:
271:
261:
248:
237:
222:
215:
209:
198:
184:
168:
162:
160:TGM1 - orthologs
113:
106:
83:
70:
64:
43:
42:
30:
21:
2958:
2957:
2953:
2952:
2951:
2949:
2948:
2947:
2928:
2927:
2926:
2921:
2860:
2752:
2729:
2701:
2696:
2666:
2661:
2620:Malate synthase
2565:
2516:
2328:
2314:
2272:
2267:
2237:(23): 6936–46.
2224:
2194:
2159:
2116:
2081:
2046:
2003:
1967:(5197): 525–8.
1958:
1924:Nature Genetics
1921:
1886:
1851:
1798:
1769:
1740:
1705:
1670:
1641:
1601:(10): 4476–80.
1588:
1553:
1518:
1514:
1512:Further reading
1509:
1508:
1464:
1463:
1459:
1421:
1420:
1416:
1380:
1379:
1375:
1338:(5197): 525–8.
1329:
1328:
1321:
1285:
1284:
1280:
1271:
1270:
1266:
1230:
1229:
1225:
1212:
1211:
1207:
1194:
1193:
1189:
1177:
1168:
1156:
1147:
1142:
1130:
1107:
1094:
1060:View/Edit Mouse
1055:View/Edit Human
1018:
1011:
1008:Location (UCSC)
994:
990:
986:
965:
939:
935:
931:
910:
823:ENSG00000285348
821:
819:ENSG00000092295
712:
666:
662:plasma membrane
625:
611:protein binding
566:
535:
526:
521:
517:
513:
509:
507:skin of abdomen
505:
503:proximal tubule
501:
497:
493:
489:
475:
464:
459:
455:
451:
447:
443:
439:
435:
431:
429:skin of abdomen
427:
413:
357:
344:
336:
326:
325:
324:
317:
297:
274:Gene location (
256:
243:
235:
225:
224:
223:
216:
194:
171:Gene location (
122:
109:
102:
79:
57:
28:
23:
22:
15:
12:
11:
5:
2956:
2954:
2946:
2945:
2940:
2930:
2929:
2923:
2922:
2920:
2919:
2914:
2909:
2904:
2899:
2894:
2889:
2884:
2879:
2874:
2868:
2866:
2862:
2861:
2859:
2858:
2853:
2848:
2843:
2838:
2833:
2828:
2823:
2818:
2813:
2808:
2803:
2798:
2793:
2788:
2783:
2778:
2773:
2768:
2762:
2760:
2754:
2753:
2751:
2750:
2745:
2739:
2737:
2731:
2730:
2728:
2727:
2722:
2717:
2711:
2709:
2703:
2702:
2697:
2695:
2694:
2687:
2680:
2672:
2663:
2662:
2660:
2659:
2654:
2649:
2644:
2639:
2634:
2633:
2632:
2622:
2617:
2612:
2607:
2602:
2597:
2592:
2587:
2582:
2576:
2574:
2567:
2566:
2564:
2563:
2562:
2561:
2556:
2551:
2541:
2536:
2530:
2528:
2518:
2517:
2515:
2514:
2509:
2504:
2499:
2493:
2492:
2487:
2482:
2477:
2472:
2463:
2462:
2461:
2460:
2455:
2445:
2444:
2443:
2438:
2421:
2420:
2419:
2418:
2413:
2403:
2402:
2401:
2396:
2391:
2381:
2376:
2371:
2366:
2361:
2356:
2351:
2339:
2337:
2330:
2329:
2315:
2313:
2312:
2305:
2298:
2290:
2284:
2283:
2271:
2270:External links
2268:
2266:
2265:
2222:
2192:
2157:
2135:10.1086/515498
2114:
2079:
2044:
2001:
1956:
1919:
1884:
1849:
1811:(23): 9333–7.
1796:
1767:
1738:
1703:
1668:
1639:
1586:
1566:(11): 7710–7.
1551:
1515:
1513:
1510:
1507:
1506:
1483:10.1086/301818
1477:(5): 1052–61.
1457:
1414:
1373:
1319:
1278:
1264:
1223:
1205:
1187:
1166:
1144:
1143:
1141:
1138:
1137:
1136:
1129:
1126:
1106:
1103:
1093:
1090:
1067:
1066:
1063:
1062:
1057:
1047:
1046:
1040:
1039:
1036:
1035:
1033:
1031:
1024:
1023:
1016:
1009:
1005:
1004:
1001:
1000:
982:
981:
975:
972:
971:
961:
960:
954:
950:
949:
946:
945:
927:
926:
920:
917:
916:
906:
905:
899:
895:
894:
891:
890:
882:
881:
875:
872:
871:
863:
862:
856:
850:
849:
846:
845:
837:
836:
830:
827:
826:
814:
813:
807:
801:
800:
797:
796:
788:
787:
781:
778:
777:
769:
768:
762:
756:
755:
750:
745:
741:
740:
730:
729:
726:
725:
714:
713:
711:
710:
705:
700:
695:
690:
685:
683:keratinization
680:
674:
672:
668:
667:
665:
664:
659:
654:
649:
644:
639:
633:
631:
627:
626:
624:
623:
618:
613:
608:
603:
597:
595:
591:
590:
580:
579:
576:
575:
572:
571:
563:
562:
551:
545:
544:
541:
540:
532:
531:
528:
527:
525:
524:
520:
516:
512:
508:
504:
500:
496:
492:
488:
484:
481:
480:
469:
466:
465:
463:
462:
458:
454:
450:
446:
442:
438:
434:
430:
426:
422:
419:
418:
406:
405:
397:
386:
380:
379:
376:RNA expression
368:
367:
364:
363:
355:
351:
350:
342:
339:
334:
328:
327:
318:
311:
305:
301:
300:
295:
289:
288:
280:
279:
267:
266:
263:
262:
254:
250:
249:
241:
238:
233:
227:
226:
217:
210:
204:
200:
199:
192:
186:
185:
177:
176:
164:
163:
120:
116:
115:
107:
99:
98:
94:
93:
90:
89:
86:
85:
75:
74:
66:
65:
54:
48:
47:
39:
38:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2955:
2944:
2941:
2939:
2936:
2935:
2933:
2918:
2917:Topoisomerase
2915:
2913:
2910:
2908:
2905:
2903:
2900:
2898:
2895:
2893:
2890:
2888:
2885:
2883:
2880:
2878:
2875:
2873:
2870:
2869:
2867:
2863:
2857:
2854:
2852:
2849:
2847:
2844:
2842:
2839:
2837:
2834:
2832:
2829:
2827:
2824:
2822:
2819:
2817:
2814:
2812:
2809:
2807:
2804:
2802:
2799:
2797:
2794:
2792:
2789:
2787:
2784:
2782:
2779:
2777:
2774:
2772:
2769:
2767:
2764:
2763:
2761:
2759:
2755:
2749:
2746:
2744:
2741:
2740:
2738:
2736:
2732:
2726:
2723:
2721:
2718:
2716:
2713:
2712:
2710:
2708:
2707:Dehydrogenase
2704:
2700:
2693:
2688:
2686:
2681:
2679:
2674:
2673:
2670:
2658:
2655:
2653:
2650:
2648:
2645:
2643:
2640:
2638:
2635:
2631:
2628:
2627:
2626:
2623:
2621:
2618:
2616:
2613:
2611:
2608:
2606:
2603:
2601:
2598:
2596:
2593:
2591:
2588:
2586:
2583:
2581:
2578:
2577:
2575:
2572:
2568:
2560:
2557:
2555:
2552:
2550:
2547:
2546:
2545:
2542:
2540:
2537:
2535:
2532:
2531:
2529:
2527:
2523:
2519:
2513:
2510:
2508:
2505:
2503:
2500:
2498:
2495:
2494:
2491:
2488:
2486:
2483:
2481:
2478:
2476:
2473:
2471:
2468:
2465:
2464:
2459:
2456:
2454:
2451:
2450:
2449:
2446:
2442:
2439:
2437:
2434:
2433:
2432:
2429:
2427:
2423:
2422:
2417:
2414:
2412:
2409:
2408:
2407:
2404:
2400:
2397:
2395:
2392:
2390:
2387:
2386:
2385:
2382:
2380:
2377:
2375:
2372:
2370:
2367:
2365:
2362:
2360:
2357:
2355:
2352:
2350:
2347:
2345:
2341:
2340:
2338:
2335:
2331:
2326:
2322:
2318:
2311:
2306:
2304:
2299:
2297:
2292:
2291:
2288:
2281:
2277:
2274:
2273:
2269:
2262:
2258:
2253:
2248:
2244:
2240:
2236:
2232:
2228:
2223:
2219:
2215:
2211:
2207:
2204:(4): 218–28.
2203:
2199:
2193:
2189:
2185:
2180:
2175:
2171:
2167:
2163:
2158:
2154:
2150:
2145:
2140:
2136:
2132:
2129:(3): 529–38.
2128:
2124:
2120:
2115:
2111:
2107:
2102:
2097:
2093:
2089:
2085:
2080:
2076:
2072:
2067:
2062:
2058:
2054:
2050:
2045:
2041:
2037:
2033:
2029:
2024:
2019:
2016:(3): 258–64.
2015:
2011:
2007:
2002:
1998:
1994:
1990:
1986:
1982:
1978:
1974:
1970:
1966:
1962:
1957:
1953:
1949:
1945:
1941:
1937:
1933:
1930:(3): 279–83.
1929:
1925:
1920:
1916:
1912:
1907:
1902:
1899:(1): 99–104.
1898:
1894:
1890:
1885:
1881:
1877:
1872:
1867:
1863:
1859:
1855:
1850:
1846:
1842:
1837:
1832:
1827:
1822:
1818:
1814:
1810:
1806:
1802:
1797:
1793:
1789:
1785:
1781:
1777:
1773:
1768:
1764:
1760:
1756:
1752:
1749:(3): 906–13.
1748:
1744:
1739:
1735:
1731:
1726:
1721:
1717:
1713:
1709:
1704:
1700:
1696:
1691:
1686:
1682:
1678:
1674:
1669:
1665:
1661:
1657:
1653:
1649:
1645:
1640:
1636:
1632:
1627:
1622:
1617:
1612:
1608:
1604:
1600:
1596:
1592:
1587:
1583:
1579:
1574:
1569:
1565:
1561:
1557:
1552:
1548:
1544:
1539:
1534:
1531:(4): 2282–6.
1530:
1526:
1522:
1517:
1516:
1511:
1502:
1498:
1493:
1488:
1484:
1480:
1476:
1472:
1468:
1461:
1458:
1453:
1449:
1445:
1441:
1437:
1433:
1430:(1): 85–103.
1429:
1425:
1418:
1415:
1410:
1406:
1401:
1396:
1393:(3): 481–92.
1392:
1388:
1384:
1377:
1374:
1369:
1365:
1361:
1357:
1353:
1349:
1345:
1341:
1337:
1333:
1326:
1324:
1320:
1315:
1311:
1306:
1301:
1298:(3): 481–92.
1297:
1293:
1289:
1282:
1279:
1274:
1268:
1265:
1260:
1256:
1251:
1246:
1242:
1238:
1234:
1227:
1224:
1219:
1215:
1209:
1206:
1201:
1197:
1191:
1188:
1184:
1180:
1175:
1173:
1171:
1167:
1163:
1159:
1154:
1152:
1150:
1146:
1139:
1135:
1132:
1131:
1127:
1125:
1123:
1118:
1116:
1112:
1104:
1102:
1098:
1091:
1089:
1087:
1084:
1080:
1077:
1073:
1061:
1056:
1052:
1048:
1045:
1041:
1034:
1032:
1029:
1025:
1021:
1017:
1014:
1010:
1006:
999:
997:
993:
989:
983:
979:
976:
970:
968:
962:
958:
955:
951:
944:
942:
938:
934:
928:
924:
921:
915:
913:
907:
903:
900:
898:RefSeq (mRNA)
896:
889:
888:
883:
879:
876:
870:
869:
864:
860:
857:
855:
851:
844:
843:
838:
834:
831:
825:
824:
820:
815:
811:
808:
806:
802:
795:
794:
789:
785:
782:
776:
775:
770:
766:
763:
761:
757:
754:
751:
749:
746:
742:
739:
735:
731:
724:
720:
715:
709:
706:
704:
703:cornification
701:
699:
696:
694:
691:
689:
686:
684:
681:
679:
676:
675:
673:
670:
669:
663:
660:
658:
655:
653:
650:
648:
645:
643:
640:
638:
635:
634:
632:
629:
628:
622:
619:
617:
614:
612:
609:
607:
604:
602:
599:
598:
596:
593:
592:
589:
588:Gene ontology
585:
581:
569:
564:
560:
555:
552:
550:
546:
538:
533:
522:
518:
514:
510:
506:
502:
498:
494:
490:
486:
485:
482:
478:
473:
470:
460:
456:
452:
448:
444:
440:
436:
432:
428:
424:
423:
420:
416:
411:
408:
407:
404:
402:
398:
396:
395:
391:
390:
387:
385:
381:
377:
373:
369:
361:
356:
352:
348:
343:
337:14|14 C3
333:
329:
322:
315:
309:
302:
294:
290:
286:
281:
277:
272:
268:
260:
255:
251:
247:
242:
232:
228:
221:
214:
208:
201:
197:
191:
187:
183:
178:
174:
169:
165:
161:
157:
153:
149:
145:
141:
137:
133:
129:
125:
117:
112:
105:
100:
95:
84:
82:
76:
71:
68:
67:
63:
60:
53:
49:
44:
40:
36:
31:
19:
2943:Autoantigens
2902:Gangliosides
2758:Nucleoporins
2742:
2699:Autoantigens
2553:
2466:
2424:
2342:
2317:Transferases
2276:TGM1+protein
2234:
2230:
2201:
2197:
2169:
2165:
2126:
2122:
2091:
2087:
2056:
2052:
2013:
2010:FEBS Letters
2009:
1964:
1960:
1927:
1923:
1896:
1892:
1861:
1857:
1808:
1804:
1778:(2): 285–8.
1775:
1771:
1746:
1742:
1718:(1): 536–9.
1715:
1711:
1680:
1676:
1650:(1): 27–34.
1647:
1643:
1598:
1594:
1563:
1559:
1528:
1524:
1474:
1470:
1460:
1427:
1423:
1417:
1390:
1386:
1376:
1335:
1331:
1295:
1291:
1281:
1267:
1240:
1236:
1226:
1217:
1208:
1199:
1190:
1134:Keratinocyte
1119:
1108:
1099:
1095:
1082:
1071:
1070:
992:NP_001155187
988:NP_001155186
985:
964:
937:NM_001161715
933:NM_001161714
930:
909:
885:
866:
840:
817:
791:
772:
752:
747:
511:skin of back
499:right kidney
399:
392:
119:External IDs
78:
2887:Cardiolipin
2559:Factor XIII
425:skin of leg
358:55,951,383
345:55,937,466
257:24,264,432
244:24,249,114
97:Identifiers
2932:Categories
2892:Centromere
1185:, May 2017
1164:, May 2017
1140:References
457:ectocervix
403:(ortholog)
140:HomoloGene
1105:Pathology
996:NP_064368
967:NP_000350
941:NM_019984
912:NM_000359
738:Orthologs
519:epidermis
487:esophagus
148:GeneCards
2912:Thrombin
2411:P300/CBP
2040:39872629
1997:43324754
1952:27032821
1452:23418803
1444:11738475
1409:15737187
1368:43324754
1314:15737187
1259:11390390
1181:–
1160:–
1128:See also
1092:Function
1044:Wikidata
717:Sources:
647:membrane
495:yolk sac
441:testicle
2261:9384573
2252:1170297
2218:9359043
2188:9346937
2153:9326318
2144:1715945
2110:8824274
2075:7961731
2032:7906657
1989:7824952
1969:Bibcode
1961:Science
1944:7773290
1915:7688299
1880:7592852
1845:1979171
1813:Bibcode
1792:1704039
1763:1673840
1734:1670769
1699:1381356
1664:1351505
1635:1350092
1603:Bibcode
1582:1348508
1547:1346394
1501:9545389
1492:1377076
1360:7824952
1340:Bibcode
1332:Science
1183:Ensembl
1162:Ensembl
854:UniProt
805:Ensembl
744:Species
723:QuickGO
657:cytosol
378:pattern
104:Aliases
2856:NUP214
2851:NUP205
2846:NUP210
2841:NUP188
2836:NUP160
2831:NUP155
2826:NUP153
2821:NUP133
2816:NUP107
2630:HMGCS2
2467:other:
2458:SPTLC2
2453:SPTLC1
2394:HGSNAT
2282:(MeSH)
2259:
2249:
2216:
2186:
2151:
2141:
2108:
2073:
2038:
2030:
1995:
1987:
1950:
1942:
1913:
1878:
1843:
1833:
1790:
1761:
1732:
1697:
1662:
1633:
1623:
1580:
1545:
1499:
1489:
1450:
1442:
1407:
1366:
1358:
1312:
1257:
1079:enzyme
1030:search
1028:PubMed
887:Q9JLF6
868:P22735
760:Entrez
549:BioGPS
445:tonsil
433:vagina
128:190195
2877:Actin
2865:Other
2811:NUP98
2806:NUP93
2801:NUP88
2796:NUP85
2791:NUP62
2786:NUP54
2781:NUP50
2776:NUP43
2771:NUP37
2766:NUP35
2571:2.3.3
2522:2.3.2
2512:ABHD5
2399:ARD1A
2334:2.3.1
2036:S2CID
1993:S2CID
1948:S2CID
1836:55159
1626:49105
1448:S2CID
1364:S2CID
1074:is a
793:21816
753:Mouse
748:Human
719:Amigo
461:gonad
401:Mouse
394:Human
341:Start
276:Mouse
240:Start
236:14q12
173:Human
136:98730
2441:CPT2
2436:CPT1
2416:NAT2
2327:2.3)
2257:PMID
2214:PMID
2184:PMID
2149:PMID
2106:PMID
2071:PMID
2028:PMID
1985:PMID
1940:PMID
1911:PMID
1876:PMID
1841:PMID
1788:PMID
1759:PMID
1730:PMID
1695:PMID
1660:PMID
1631:PMID
1578:PMID
1543:PMID
1497:PMID
1440:PMID
1405:PMID
1356:PMID
1310:PMID
1255:PMID
1086:gene
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