244:
221:
118:
958:
or CAAT box was found upstream of the predicted transcription start region. Because no clear TATA box was found, it is possible that PRR12 is regulated by a TATA-less promoter containing a downstream promoter element (DPE). However, the predicted DPE is only 15bp downstream of the transcription start region instead of the typical +25 to +32 base pairs. More research will be required to expand the 5' UTR of the PRR12 transcript in order to confirm where the correct promoter region is located.
143:
1112:
920:
250:
149:
957:
The promoter region of PRR12 was predicted using ElDorado at
Genomatix. The region starts at position 50094408 and ends at 50095013 of chromosome 19. This promoter set is conserved in the macaque, mouse, rat, horse, cow, pig, dog and zebrafish. No recognizable TATA box, B recognition element (BRE),
1153:
which is also proline and glycine rich. A relationship between the two might be an explanation for the appearance of autoimmune CTDs after infection of EBV. However, glycine and proline residues in collagen generally follow a G-P-X or G-X-HydroxyP motif, which does not significantly occur in
1043:
along the backbone of the protein, inhibiting the ability of these proteins to fold properly and allowing the possibility of protein aggregation. Residues such as G, A, S, Y, and P are listed as poor protectors and PRR12 is rich in both proline and glycine. Many of the proline residues are
936:
905:
involved with cell adhesion and cell migration. Ras-related protein R-Ras, RRAS, belongs to the Ras family and is involved in the organization of actin filaments within the cytoskeleton. SR-Related CTD-Associated Factor 1, SCAF1, is thought to be involved in the splicing of
1085:) is the only closely related paralog to PRR12 (NCBI accession: EAW68214). QSER1 has no known function and, like PRR12, it contains DUF4211 and a nuclear localization signal. QSER1 does not contain the AT binding regions or Epstein-Barr virus antigen that is found in PRR12.
1673:"Elevated immunoglobulin G antibodies to the proline-rich amino-terminal region of Epstein-Barr virus nuclear antigen-2 in sera from patients with systemic connective tissue diseases and from a subgroup of Sjögren's syndrome patients with pulmonary involvements"
1128:
found close homology between a proline rich region in PRR12 and a 65 amino acid long region at the terminal end of EBNA-2 (a nuclear antigen of the virus). This
Epstein-Barr virus antigen is associated with autoimmune systemic
1052:
would have the following residues: P-P-K-K-K-R-K-V. PRR12 contains a DUF4211 domain starting at V1836 that shows homology to the pfam13926 domain. This domain is well conserved in PRR12
889:
on the antisense strand. Nitric oxide synthase interacting protein, NOSIP, regulates the activity and localization of nitric oxide synthase (endothelial and neuronal), controlling
1002:
The three isoforms of the human PRR12 protein as listed in the UniProt database. Red arrows indicate where certain exons are partially or entirely not present in isoforms 1 and 2.
1097:. Orthologs were found in fish, amphibians, reptiles, and other mammals. While no PRR12 orthologs were found in birds, birds did have orthologs to the QSER1, which is a close
1720:
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S (July 2021).
257:
156:
1064:
1044:
positioned consecutively in regions of low complexity. These regions may give this protein interesting secondary structure as a cluster of proline can form a
919:
569:
1067:
This section of PRR12 shows a possible nuclear import signal outlined in orange. Highlighted in yellow is the DUF4211 that shows homology to pfam13926.
962:
550:
79:
1409:
987:
with isoform 3 containing roughly one thousand more amino acid residues than the other isoforms. No 5' UTR is given in the NCBI records for the
1039:. Jianping Chen lists PRR12 as an "extremely vulnerable protein". These proteins have regions rich in amino acids that are "poor protectors" of
1015:
1238:
1794:
1631:
1549:
1220:
1149:(SSc), and secondary SS. PRR12 is not only proline rich, but it is also rich in glycine, suggesting that there might be a relationship to
1060:
binding regions at P1168 and G1202. These regions allow proteins to bind DNA, further supporting the localization of PRR12 to the nucleus.
1105:
1388:
1325:
999:
243:
1367:
769:
776:
220:
1207:
1186:
142:
117:
1203:
1768:
1049:
1182:
1134:
935:
59:
256:
155:
1111:
1063:
1130:
249:
148:
614:
67:
1035:
around 7.728. A number of bioinformatics databases have also predicted PRR12 to be a soluble protein with no
1799:
865:
at 19q13.33. Known aliases for PRR12 include "proline rich 12" and KIAA1205. Within its gene neighborhood,
595:
1125:
1722:"Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities"
1555:
1036:
131:
1671:
Yamazaki M, Kitamura R, Kusano S, Eda H, Sato S, Okawa-Takatsuji M, Aotsuka S, Yanagi K (March 2005).
1413:
1142:
46:
1138:
979:
The PRR12 mRNA transcript is 6960 base pairs long and contains several short sequence repeats. The
961:
1146:
1093:
The most distant relative found through BLAST with a significant similarity to PRR12 is the fish
91:
752:
731:
705:
684:
1014:
1749:
1741:
1702:
1627:
1604:
1545:
1045:
1032:
39:
1346:
1733:
1692:
1684:
1594:
1586:
1028:
336:
267:
211:
166:
1495:
1304:
1283:
87:
311:
1697:
1672:
1599:
1574:
1040:
907:
1788:
1688:
862:
71:
1458:
1158:
1011:
The gene is moderately expressed at even levels in a wide variety of tissue types.
890:
329:
108:
1647:
991:
PRR12 transcript. However, 7 base pairs of the 5' UTR have been determined in the
95:
1559:
1243:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1225:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1737:
1048:. PRR12 contains a possible nuclear import signal starting at P1794. A typical
412:
1104:
898:
894:
228:
125:
75:
1745:
1721:
1053:
1027:
The PRR12 transcript encodes a protein that is 2036 residues long. It has a
998:
514:
472:
350:
295:
282:
194:
181:
83:
1753:
1706:
1608:
1259:
816:
811:
1437:
1150:
984:
800:
659:
640:
1098:
1057:
832:
626:
581:
1590:
1482:
784:
536:
1260:"PRR12 proline rich 12 [Homo sapiens (human)] - Gene - NCBI"
1284:"PRR12 Gene - GeneCards | PRR12 Protein | PRR12 Antibody"
1110:
1103:
1082:
1062:
1018:
The expression profile of PRR12 in a variety of cell tissue types.
1013:
997:
960:
885:
858:
1516:
1575:"The structure and function of proline-rich regions in proteins"
965:
PRR12 Promoter Region as predicted using ElDorado via
Genomatix.
879:
836:
63:
319:
1648:"PRR12 protein [Homo sapiens] - Protein - NCBI"
1769:"Baby born without eyes due to rare genetic disorder"
484:
745:
724:
698:
677:
447:
dentate gyrus of hippocampal formation granule cell
1254:
1252:
1199:
1197:
1195:
1178:
1176:
1174:
266:
165:
50:, KIAA1205, Proline-rich 12, proline rich 12, NOC
1438:"Proline-rich protein 12 - Homo sapiens (Human)"
1115:An unrooted phylogenetic map of PRR12 orthologs.
1535:
1533:
1478:
1476:
1474:
901:and is associated with proteins present in the
16:Protein-coding gene in the species Homo sapiens
1666:
1664:
1432:
1430:
1204:GRCm38: Ensembl release 89: ENSMUSG00000046574
995:ortholog. The 3' UTR is 852 base pairs long.
8:
1459:"Homo sapiens proline rich 12 (PRR12), mRNA"
1278:
1276:
893:production. Proline rich Gla, PRRG2, has a
857:gene is 34,785 base pairs long, contains 14
1626:(5th ed.). New York: Garland Science.
1183:GRCh38: Ensembl release 89: ENSG00000126464
1542:Molecular Basis of Gene Dosage Sensitivity
1157:Haploinsufficiency of PRR12 can result in
510:
307:
206:
103:
1696:
1598:
1081:The glutamine and serine-rich protein 1 (
1170:
915:
1677:Clinical & Experimental Immunology
1056:. PRR12 also contains well conserved
20:
397:cardiac muscle tissue of right atrium
271:
232:
227:
170:
129:
124:
7:
1622:Bruce Alberts, et al. (2008).
1483:http://seqtool.sdsc.edu/CGI/BW.cgi#
835:of unknown function encoded by the
1410:"Genomes and Annotation: ElDorado"
742:
721:
695:
674:
650:
631:
605:
586:
560:
541:
489:
407:
345:
324:
14:
1689:10.1111/j.1365-2249.2004.02704.x
934:
918:
427:dorsomedial hypothalamic nucleus
393:inferior ganglion of vagus nerve
255:
248:
242:
219:
154:
147:
141:
116:
1650:. Ncbi.nlm.nih.gov. 2013-08-12
1573:Williamson MP (Jan 15, 1994).
473:More reference expression data
377:right hemisphere of cerebellum
1:
1624:Molecular biology of the cell
1050:nuclear localization sequence
240:
139:
1795:Genes on human chromosome 19
1135:systemic lupus erythematosus
455:nucleus of stria terminalis
1816:
1767:Steinbuch Y (2024-02-08).
1738:10.1038/s41436-021-01129-6
1544:(Ph.D.). Rice University.
1519:. Psort.hgc.jp. 1999-11-24
1498:. Emboss.bioinformatics.nl
1161:among other abnormalities
1131:connective tissue diseases
1239:"Mouse PubMed Reference:"
1221:"Human PubMed Reference:"
815:
810:
806:
799:
783:
764:
749:
728:
717:
702:
681:
670:
657:
653:
638:
634:
625:
612:
608:
593:
589:
580:
567:
563:
548:
544:
535:
520:
513:
509:
497:
492:
483:
470:
419:
410:
357:
348:
318:
310:
306:
289:
276:
239:
218:
209:
205:
188:
175:
138:
115:
106:
102:
57:
54:
44:
37:
32:
28:
23:
877:on the sense strand and
770:Chr 19: 49.59 – 49.63 Mb
1579:The Biochemical Journal
431:external carotid artery
423:internal carotid artery
1116:
1108:
1068:
1019:
1003:
966:
777:Chr 7: 44.68 – 44.7 Mb
369:ventral tegmental area
1517:"PSORT II Prediction"
1114:
1107:
1066:
1037:transmembrane domains
1031:of 211.1 kdal and an
1017:
1001:
964:
132:Chromosome 19 (human)
1726:Genetics in Medicine
1143:rheumatoid arthritis
903:extracellular matrix
861:, and is located on
234:Chromosome 7 (mouse)
1496:"EMBOSS: antigenic"
1120:Clinical importance
1262:. Ncbi.nlm.nih.gov
1147:systemic sclerosis
1126:Epstein–Barr virus
1117:
1109:
1069:
1020:
1004:
967:
615:ENSMUSG00000046574
1633:978-0-8153-4111-6
1591:10.1042/bj2970249
1551:978-1-109-21734-6
1124:One study on the
1046:polyproline helix
1033:isoelectric point
944:gene neighborhood
826:
825:
822:
821:
795:
794:
760:
759:
739:
738:
713:
712:
692:
691:
666:
665:
647:
646:
621:
620:
602:
601:
576:
575:
557:
556:
505:
504:
501:
500:
479:
478:
466:
465:
404:
403:
302:
301:
201:
200:
96:PRR12 - orthologs
1807:
1779:
1778:
1776:
1775:
1764:
1758:
1757:
1732:(7): 1234–1245.
1717:
1711:
1710:
1700:
1668:
1659:
1658:
1656:
1655:
1644:
1638:
1637:
1619:
1613:
1612:
1602:
1585:(Pt 2): 249–60.
1570:
1564:
1563:
1537:
1528:
1527:
1525:
1524:
1513:
1507:
1506:
1504:
1503:
1492:
1486:
1480:
1469:
1468:
1466:
1465:
1455:
1449:
1448:
1446:
1445:
1434:
1425:
1424:
1422:
1421:
1412:. Archived from
1406:
1400:
1399:
1397:
1395:
1385:
1379:
1378:
1376:
1374:
1364:
1358:
1357:
1355:
1353:
1343:
1337:
1336:
1334:
1332:
1322:
1316:
1315:
1313:
1311:
1301:
1295:
1294:
1292:
1291:
1280:
1271:
1270:
1268:
1267:
1256:
1247:
1246:
1235:
1229:
1228:
1217:
1211:
1201:
1190:
1180:
1139:Sjögren syndrome
1137:(SLE), primary
1133:(CTD) including
1101:to human PRR12.
1029:molecular weight
983:PRR12 has three
938:
929:on chromosome 19
922:
808:
807:
779:
772:
755:
743:
734:
722:
718:RefSeq (protein)
708:
696:
687:
675:
651:
632:
606:
587:
561:
542:
511:
490:
475:
459:genital tubercle
415:
413:Top expressed in
408:
353:
351:Top expressed in
346:
325:
308:
298:
285:
274:
259:
252:
246:
235:
223:
207:
197:
184:
173:
158:
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145:
134:
120:
104:
98:
49:
42:
21:
1815:
1814:
1810:
1809:
1808:
1806:
1805:
1804:
1785:
1784:
1783:
1782:
1773:
1771:
1766:
1765:
1761:
1719:
1718:
1714:
1670:
1669:
1662:
1653:
1651:
1646:
1645:
1641:
1634:
1621:
1620:
1616:
1572:
1571:
1567:
1552:
1540:Chen J (2009).
1539:
1538:
1531:
1522:
1520:
1515:
1514:
1510:
1501:
1499:
1494:
1493:
1489:
1481:
1472:
1463:
1461:
1457:
1456:
1452:
1443:
1441:
1436:
1435:
1428:
1419:
1417:
1408:
1407:
1403:
1393:
1391:
1387:
1386:
1382:
1372:
1370:
1366:
1365:
1361:
1351:
1349:
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1344:
1340:
1330:
1328:
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1323:
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1309:
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1302:
1298:
1289:
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1274:
1265:
1263:
1258:
1257:
1250:
1237:
1236:
1232:
1219:
1218:
1214:
1202:
1193:
1181:
1172:
1167:
1122:
1091:
1079:
1074:
1025:
1009:
972:
950:
949:
948:
945:
939:
930:
923:
848:
829:Proline-rich 12
817:View/Edit Mouse
812:View/Edit Human
775:
768:
765:Location (UCSC)
751:
730:
704:
683:
596:ENSG00000126464
471:
462:
457:
453:
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437:
433:
429:
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349:
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210:Gene location (
192:
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130:
107:Gene location (
58:
45:
38:
17:
12:
11:
5:
1813:
1811:
1803:
1802:
1800:Human proteins
1797:
1787:
1786:
1781:
1780:
1759:
1712:
1683:(3): 558–568.
1660:
1639:
1632:
1614:
1565:
1550:
1529:
1508:
1487:
1470:
1450:
1426:
1401:
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1359:
1338:
1317:
1296:
1272:
1248:
1230:
1212:
1191:
1169:
1168:
1166:
1163:
1121:
1118:
1090:
1087:
1078:
1075:
1073:
1070:
1041:hydrogen bonds
1024:
1021:
1008:
1005:
971:
968:
947:
946:
940:
933:
931:
924:
917:
914:
913:
912:
908:precursor mRNA
869:is flanked by
847:
844:
824:
823:
820:
819:
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803:
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378:
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355:
354:
342:
341:
333:
322:
316:
315:
312:RNA expression
304:
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299:
291:
287:
286:
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275:
270:
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263:
254:
247:
241:
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128:
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112:
100:
99:
56:
52:
51:
43:
35:
34:
30:
29:
26:
25:
15:
13:
10:
9:
6:
4:
3:
2:
1812:
1801:
1798:
1796:
1793:
1792:
1790:
1770:
1763:
1760:
1755:
1751:
1747:
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1739:
1735:
1731:
1727:
1723:
1716:
1713:
1708:
1704:
1699:
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1690:
1686:
1682:
1678:
1674:
1667:
1665:
1661:
1649:
1643:
1640:
1635:
1629:
1625:
1618:
1615:
1610:
1606:
1601:
1596:
1592:
1588:
1584:
1580:
1576:
1569:
1566:
1561:
1557:
1553:
1547:
1543:
1536:
1534:
1530:
1518:
1512:
1509:
1497:
1491:
1488:
1484:
1479:
1477:
1475:
1471:
1460:
1454:
1451:
1440:. Uniprot.org
1439:
1433:
1431:
1427:
1416:on 2021-05-22
1415:
1411:
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1402:
1390:
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1306:
1300:
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1249:
1244:
1240:
1234:
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1226:
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1216:
1213:
1209:
1205:
1200:
1198:
1196:
1192:
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1184:
1179:
1177:
1175:
1171:
1164:
1162:
1160:
1155:
1152:
1148:
1144:
1140:
1136:
1132:
1127:
1119:
1113:
1106:
1102:
1100:
1096:
1088:
1086:
1084:
1076:
1071:
1065:
1061:
1059:
1055:
1051:
1047:
1042:
1038:
1034:
1030:
1022:
1016:
1012:
1006:
1000:
996:
994:
990:
986:
982:
977:
976:
975:mRNA sequence
969:
963:
959:
955:
954:
943:
937:
932:
928:
921:
916:
911:
909:
904:
900:
896:
892:
888:
887:
882:
881:
876:
872:
868:
864:
863:chromosome 19
860:
856:
853:
845:
843:
841:
838:
834:
831:(PRR12) is a
830:
818:
813:
809:
805:
802:
798:
791:
789:
786:
782:
778:
774:
771:
767:
763:
756:
754:
748:
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1442:. Retrieved
1418:. Retrieved
1414:the original
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1159:anophthalmia
1156:
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1094:
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1072:Conservation
1026:
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993:Papio anubis
992:
989:Homo sapiens
988:
981:Homo sapiens
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925:Location of
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897:which binds
891:nitric oxide
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443:otic vesicle
335:
328:
55:External IDs
18:
1286:. GeneCards
1095:Danio rerio
389:sural nerve
294:44,702,305
281:44,676,987
273:7|7 B3
193:49,626,439
180:49,591,182
33:Identifiers
1789:Categories
1774:2024-02-09
1654:2014-01-26
1523:2014-01-26
1502:2014-01-26
1464:2014-11-06
1444:2014-01-26
1420:2014-11-06
1394:6 November
1373:6 November
1352:6 November
1331:6 November
1310:6 November
1290:2014-01-26
1266:2014-01-26
1210:, May 2017
1189:, May 2017
1165:References
1007:Expression
970:Transcript
899:hyaluronan
895:Gla domain
339:(ortholog)
76:HomoloGene
1746:1098-3600
1560:304989828
1089:Orthologs
1054:orthologs
753:NP_778187
732:NP_065770
706:NM_175022
685:NM_020719
515:Orthologs
439:subiculum
373:vena cava
84:GeneCards
1754:33824499
1707:15730403
1556:ProQuest
1206:–
1185:–
1151:collagen
1077:Paralogs
985:isoforms
953:Promoter
801:Wikidata
435:habenula
172:19q13.33
1698:1809310
1609:8297327
1600:1137821
1389:"SCAF1"
1326:"PRRG2"
1305:"NOSIP"
1208:Ensembl
1187:Ensembl
1154:PRR12.
1099:paralog
1058:AT-hook
1023:Protein
833:protein
627:UniProt
582:Ensembl
521:Species
381:pylorus
314:pattern
72:2679002
40:Aliases
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1368:"RRAS"
1145:(RA),
1141:(SS),
787:search
785:PubMed
660:E9PYL2
641:Q9ULL5
570:233210
537:Entrez
485:BioGPS
451:atrium
365:nipple
361:cardia
64:616633
1347:"GLA"
1083:QSER1
942:PRR12
927:PRR12
886:NOSIP
875:SCAF1
871:PRRG2
867:PRR12
859:exons
855:PRR12
840:PRR12
551:57479
530:Mouse
525:Human
337:Mouse
330:Human
277:Start
212:Mouse
176:Start
109:Human
88:PRR12
80:18957
47:PRR12
24:PRR12
1750:PMID
1742:ISSN
1703:PMID
1628:ISBN
1605:PMID
1546:ISBN
1396:2014
1375:2014
1354:2014
1333:2014
1312:2014
883:and
880:RRAS
873:and
850:The
846:Gene
837:gene
320:Bgee
268:Band
229:Chr.
167:Band
126:Chr.
60:OMIM
1734:doi
1693:PMC
1685:doi
1681:139
1595:PMC
1587:doi
1583:297
493:n/a
290:End
189:End
92:OMA
68:MGI
1791::
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