776:
1033:
691:
31:
259:
activated by elevated AMP within the cell, and allosterically inactivated by elevated ATP and/or glucose-6-phosphate. Myophosphorylase-a is active, unless allosterically inactivated by elevated glucose within the cell. In this way, myophosphorylase-a is the more active of the two forms as it will
491:
mutation on the PYGM gene impairs activity of myophosphorylase-a, but not myophosphorylase-b. Symptoms include adult-onset muscle weakness and muscle biopsy shows accumulation of the intermediate filament desmin in the myofibers. Unlike
299:
to form the enzymatically active phosphorylase A. It contains an AMP binding site at p. 76, two sites involved in association of subunits at p. 109 and p. 143, and a site believed to be involved in
1223:
1218:
1596:
1472:
1263:
252:
states: active (R or relaxed) and inactive (T or tense). When either form 'a' or 'b' are in the active state, then the enzyme converts glycogen into glucose-1-phosphate.
1577:
1645:
1094:
54:
1754:
650:"RCSB Protein Data Bank - Structure Summary for 3MSC - Glycogen phosphorylase complexed with 2-nitrobenzaldehyde-4-(beta-D-glucopyranosyl)-thiosemicarbazone"
480:. This expands on the current understanding of McArdle disease and suggests that this combination of mutations could result in a complex disease with severe
1724:
1059:
1399:
1394:
624:
1759:
2076:
916:"Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes"
710:"Regulation of glycogen phosphorylase. Role of the peptide region surrounding the phosphoserine residue in determining enzyme properties"
78:
1087:
1797:
1640:
332:-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. Alternative splicing results in multiple transcript variants.
1650:
66:
509:
1671:
613:
493:
415:
321:
59:
1655:
1953:
1080:
871:
Mancuso M, Orsucci D, Volterrani D, Siciliano G (May 2011). "Cognitive impairment and McArdle disease: Is there a link?".
1190:
1175:
1615:
242:
1938:
260:
continue to convert glycogen into glucose-1-phosphate even with high levels of glycogen-6-phosphate and ATP. (See
2054:
2041:
2028:
2015:
2002:
1989:
1976:
1740:
1632:
1545:
1180:
1120:
1002:
457:
1948:
1902:
1845:
1185:
1158:
1111:
1050:
957:"O.5A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM)"
619:
231:
119:
1850:
1675:
1238:
360:
348:
464:
6 of dGK that results in a truncated protein have been associated with phosphorylase deficiency in muscle,
1153:
955:
Echaniz-Laguna A, Lornage X, Edelweiss E, Laforêt P, Eymard B, Vissing J, Laporte J, Böhm J (2019-10-01).
261:
198:
914:
Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S (October 2003).
71:
2081:
1871:
1790:
1719:
1205:
1195:
445:
256:
249:
136:
1943:
1587:
1414:
1148:
956:
488:
469:
465:
422:
238:
1907:
1549:
1464:
1362:
1135:
1107:
364:
215:
1840:
1702:
1386:
1124:
984:
896:
629:
301:
2086:
1744:
1170:
1072:
976:
937:
888:
829:
731:
649:
434:
344:
1886:
1881:
1855:
1783:
1582:
1569:
1213:
1046:
968:
927:
880:
819:
811:
721:
496:(GSD-V, myophosphorylase deficiency), this disease does not have exercise intolerance since
312:, and 11 turns. PYGM also has the following modified residues: N-acetylserine at p. 2,
276:
241:, form 'b' is not phosphorylated. Form 'a' is de-phosphorylated into form 'b' by the enzyme
131:
1454:
1449:
1933:
1917:
1830:
1601:
780:
775:
430:
325:
227:
160:
140:
124:
1971:
1912:
1038:
824:
799:
597:
497:
438:
356:
726:
709:
2070:
1876:
1835:
1606:
1143:
1063:
988:
695:
545:
477:
340:
313:
280:
900:
1825:
473:
449:
316:
at p. 15, 2014, 227, 430, 473, 514, 747, and 748, and N6-(pyridoxal phosphate)
211:
429:, where it plays a key role in neural energy metabolism. A 55-year-old woman with
24:
phosphorylase, glycogen; muscle (McArdle disease, glycogen storage disease type V)
95:
2049:
1984:
1820:
1103:
932:
915:
421:
A case study suggested that a deficiency in myophosphorylase may be linked with
309:
291:
encoded by this gene, is a member of the glycogen phosphorylase family and is a
223:
170:
1032:
1028:
972:
884:
585:
305:
102:
980:
2023:
1997:
481:
426:
399:
372:
292:
941:
892:
833:
500:
is still possible through allosteric AMP activation of myophosphorylase-b.
815:
735:
754:
670:
453:
296:
207:
107:
1764:
1622:
1355:
1350:
1345:
1340:
1335:
1303:
1227:
577:
561:
549:
537:
368:
288:
219:
190:
2036:
1806:
1560:
1330:
1325:
1320:
1315:
1310:
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1293:
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1283:
1278:
1273:
1268:
1256:
1251:
1246:
847:
589:
581:
553:
541:
533:
517:
513:
444:
Additionally, mutations in the genes for myophosphorylase along with
329:
317:
194:
90:
512:
including 21 co-complex interactions. PYGM appears to interact with
441:. Further studies are needed to assess the validity of this claim.
237:
Myophosphorylase comes in two forms: form 'a' is phosphorylated by
2010:
1712:
1707:
1680:
1531:
1482:
1477:
569:
529:
380:
376:
694:
This article incorporates text from this source, which is in the
433:
has expressed cognitive impairment with bilateral dysfunction of
375:. Highly similar enzymes encoded by different genes are found in
1526:
1521:
1516:
1511:
1506:
1501:
1494:
1489:
1444:
1439:
1434:
1429:
1424:
1419:
1409:
1404:
1376:
1371:
1366:
601:
593:
573:
565:
557:
525:
521:
461:
284:
83:
1779:
1224:
Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase
1219:
B-N-acetylglucosaminyl-glycopeptide b-1,4-galactosyltransferase
1076:
30:
1775:
779: This article incorporates text available under the
391:
Glycogen phosphorylase catalyses the following reaction:
1473:
Dolichyl-phosphate-mannose-protein mannosyltransferase
671:"PYGM glycogen phosphorylase, muscle associated [
248:
Both forms 'a' and 'b' of myophosphorylase have two
1962:
1926:
1895:
1864:
1813:
1739:
1695:
1664:
1631:
1568:
1559:
1544:
1463:
1385:
1237:
1204:
1134:
1119:
1003:"64 binary interactions found for search term PYGM"
166:
156:
151:
130:
118:
113:
101:
89:
77:
65:
53:
45:
40:
23:
848:"Reaction participants of glycogen phosphorylase"
414:A myophosphorylase deficiency is associated with
367:, that aids this process. PYGM is located in the
187:glycogen phosphorylase, muscle associated (PYGM)
1646:Hypoxanthine-guanine phosphoribosyltransferase
800:"UniProt: the universal protein knowledgebase"
755:"PYGM - Glycogen phosphorylase, muscle form -
452:and mitochondrial hepatopathy. The G456A PYGM
1791:
1088:
425:. Besides muscle, this isoform is present in
304:at p. 156. Its structure consists of 24
226:. Mutations in this gene are associated with
8:
1755:Beta-galactoside alpha-2,6-sialyltransferase
18:Muscle enzyme involved in glycogen breakdown
1725:Indolylacetylinositol arabinosyltransferase
245:, which is activated by elevated insulin.
1798:
1784:
1776:
1565:
1556:
1131:
1095:
1081:
1073:
1060:United States National Library of Medicine
148:
29:
1049:at the U.S. National Library of Medicine
931:
823:
725:
418:(GSD5), also known as "McArdle disease".
1058:This article incorporates text from the
625:Inborn Errors of Carbohydrate Metabolism
230:(GSD-V, myophosphorylase deficiency), a
641:
528:, 5-aminoisatin, 5-nh2_caproyl-isatin,
1760:Monosialoganglioside sialyltransferase
1597:NAD(P):arginine ADP-ribosyltransferase
1578:NAD:diphthamide ADP-ribosyltransferase
508:PYGM has been shown to have 64 binary
20:
1007:IntAct Molecular Interaction Database
7:
794:
792:
790:
749:
747:
745:
665:
663:
661:
659:
616:(GSD-V, myophosphorylase deficiency)
355:encodes a muscle enzyme involved in
714:The Journal of Biological Chemistry
206:gene. This enzyme helps break down
759:(Human) - PYGM gene & protein"
14:
1641:Adenine phosphoribosyltransferase
708:Carty TJ, Graves DJ (July 1975).
448:have been associated with muscle
371:, extracellular exosome, and the
262:Glycogen phosphorylase§Regulation
1651:Uracil phosphoribosyltransferase
1031:
774:
689:
222:), so it can be used within the
1672:Purine nucleoside phosphorylase
810:(D1): D158–D169. January 2017.
416:Glycogen storage disease type V
322:post-translational modification
1656:Amidophosphoribosyltransferase
406:+ alpha-D-glucose 1-phosphate
1:
727:10.1016/S0021-9258(19)41265-9
2077:Genes on human chromosome 11
1191:Ceramide glucosyltransferase
510:protein-protein interactions
468:deficiency in liver, severe
283:in position 13.1 and has 20
933:10.1001/archneur.60.10.1445
675:(human)] - Gene - NCBI"
402:= ((1→4)-alpha-D-glucosyl)
320:at p. 681. There is a
2103:
1616:Poly ADP ribose polymerase
588:, INTS4, FAM110A, TRIM54,
243:phosphoprotein phosphatase
1954:Michaelis–Menten kinetics
1633:Phosphoribosyltransferase
973:10.1016/j.nmd.2019.06.023
885:10.1016/j.nmd.2011.02.013
394:((1→4)-alpha-D-glucosyl)
147:
28:
1846:Diffusion-limited enzyme
1186:1,3-Beta-glucan synthase
1051:Medical Subject Headings
620:Glycogen Storage Disease
232:glycogen storage disease
1676:Thymidine phosphorylase
961:Neuromuscular Disorders
873:Neuromuscular Disorders
349:carbohydrate metabolism
295:that associates into a
1570:ADP-ribosyltransferase
804:Nucleic Acids Research
365:pyridoxal 5'-phosphate
255:Myophosphorylase-b is
202:and is encoded by the
199:glycogen phosphorylase
1939:Eadie–Hofstee diagram
1872:Allosteric regulation
1720:Arabinosyltransferase
1196:N-glycosyltransferase
920:Archives of Neurology
446:deoxyguanosine kinase
410:Clinical significance
1949:Lineweaver–Burk plot
1588:Pseudomonas exotoxin
1108:glycosyltransferases
679:www.ncbi.nlm.nih.gov
630:Metabolic Myopathies
470:congenital hypotonia
466:cytochrome c oxidase
423:cognitive impairment
239:phosphorylase kinase
1363:Hyaluronan synthase
816:10.1093/nar/gkw1099
556:, NIPSNAP2, SRP72,
216:glucose-1-phosphate
1908:Enzyme superfamily
1841:Enzyme promiscuity
1703:Xylosyltransferase
1176:Debranching enzyme
1062:, which is in the
489:autosomal dominant
387:Catalytic activity
302:allosteric control
275:is located on the
210:(a form of stored
2064:
2063:
1773:
1772:
1735:
1734:
1691:
1690:
1540:
1539:
1171:Glycogen synthase
345:allosteric enzyme
180:
179:
176:
175:
2094:
1944:Hanes–Woolf plot
1887:Enzyme activator
1882:Enzyme inhibitor
1856:Enzyme catalysis
1800:
1793:
1786:
1777:
1583:Diphtheria toxin
1566:
1557:
1214:Lactose synthase
1181:Branching enzyme
1132:
1097:
1090:
1083:
1074:
1047:Myophosphorylase
1041:
1036:
1035:
1018:
1017:
1015:
1014:
999:
993:
992:
952:
946:
945:
935:
911:
905:
904:
868:
862:
861:
859:
858:
844:
838:
837:
827:
796:
785:
778:
772:
770:
769:
751:
740:
739:
729:
705:
699:
693:
692:
688:
686:
685:
667:
654:
653:
646:
604:, and CDC42BPB.
343:is an important
183:Myophosphorylase
149:
35:Myophosphorylase
33:
21:
2102:
2101:
2097:
2096:
2095:
2093:
2092:
2091:
2067:
2066:
2065:
2060:
1972:Oxidoreductases
1958:
1934:Enzyme kinetics
1922:
1918:List of enzymes
1891:
1860:
1831:Catalytic triad
1809:
1804:
1774:
1769:
1746:
1731:
1687:
1660:
1627:
1602:Pertussis toxin
1551:
1536:
1459:
1381:
1233:
1200:
1126:
1115:
1101:
1070:
1037:
1030:
1027:
1022:
1021:
1012:
1010:
1001:
1000:
996:
954:
953:
949:
913:
912:
908:
870:
869:
865:
856:
854:
852:www.rhea-db.org
846:
845:
841:
798:
797:
788:
767:
765:
763:www.uniprot.org
753:
752:
743:
707:
706:
702:
690:
683:
681:
669:
668:
657:
648:
647:
643:
638:
614:McArdle disease
610:
506:
494:McArdle disease
431:McArdle disease
412:
405:
397:
389:
338:
326:phosphorylation
270:
228:McArdle disease
36:
19:
12:
11:
5:
2100:
2098:
2090:
2089:
2084:
2079:
2069:
2068:
2062:
2061:
2059:
2058:
2045:
2032:
2019:
2006:
1993:
1980:
1966:
1964:
1960:
1959:
1957:
1956:
1951:
1946:
1941:
1936:
1930:
1928:
1924:
1923:
1921:
1920:
1915:
1910:
1905:
1899:
1897:
1896:Classification
1893:
1892:
1890:
1889:
1884:
1879:
1874:
1868:
1866:
1862:
1861:
1859:
1858:
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1823:
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1805:
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1802:
1795:
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1780:
1771:
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1767:
1762:
1757:
1751:
1749:
1737:
1736:
1733:
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1730:
1729:
1728:
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1717:
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1710:
1699:
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1618:
1612:
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1591:
1590:
1585:
1574:
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1541:
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1529:
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1498:
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1469:
1467:
1461:
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1427:
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1397:
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1380:
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1374:
1369:
1359:
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1348:
1343:
1338:
1333:
1328:
1323:
1318:
1313:
1307:
1306:
1301:
1296:
1291:
1286:
1281:
1276:
1271:
1266:
1260:
1259:
1254:
1249:
1243:
1241:
1235:
1234:
1232:
1231:
1221:
1216:
1210:
1208:
1202:
1201:
1199:
1198:
1193:
1188:
1183:
1178:
1173:
1168:
1167:
1166:
1161:
1156:
1151:
1140:
1138:
1129:
1117:
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1102:
1100:
1099:
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1055:
1054:
1043:
1042:
1039:Biology portal
1026:
1025:External links
1023:
1020:
1019:
994:
947:
926:(10): 1445–7.
906:
863:
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786:
741:
720:(13): 4980–5.
700:
655:
640:
639:
637:
634:
633:
632:
627:
622:
617:
609:
606:
540:, DEGS1, SET,
505:
502:
498:glycogenolysis
439:frontal cortex
411:
408:
403:
395:
388:
385:
357:glycogenolysis
337:
334:
269:
266:
257:allosterically
250:conformational
189:is the muscle
178:
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1932:
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1925:
1919:
1916:
1914:
1913:Enzyme family
1911:
1909:
1906:
1904:
1901:
1900:
1898:
1894:
1888:
1885:
1883:
1880:
1878:
1877:Cooperativity
1875:
1873:
1870:
1869:
1867:
1863:
1857:
1854:
1852:
1849:
1847:
1844:
1842:
1839:
1837:
1836:Oxyanion hole
1834:
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1613:
1608:
1607:Cholera toxin
1605:
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1598:
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1428:
1426:
1423:
1421:
1418:
1416:
1413:
1411:
1408:
1406:
1403:
1401:
1398:
1396:
1393:
1392:
1390:
1388:
1384:
1378:
1375:
1373:
1370:
1368:
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1297:
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1287:
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1277:
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1262:
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1255:
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1245:
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1242:
1240:
1239:Glucuronosyl-
1236:
1229:
1225:
1222:
1220:
1217:
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1212:
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1207:
1203:
1197:
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1169:
1165:
1162:
1160:
1157:
1155:
1152:
1150:
1147:
1146:
1145:
1144:Phosphorylase
1142:
1141:
1139:
1137:
1133:
1130:
1128:
1122:
1118:
1113:
1109:
1105:
1098:
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1065:
1064:public domain
1061:
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986:
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974:
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948:
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939:
934:
929:
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921:
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849:
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835:
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795:
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764:
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748:
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742:
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733:
728:
723:
719:
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697:
696:public domain
680:
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631:
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623:
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583:
579:
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547:
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535:
531:
527:
523:
519:
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511:
503:
501:
499:
495:
490:
485:
483:
479:
478:liver failure
475:
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455:
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424:
419:
417:
409:
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401:
392:
386:
384:
382:
378:
374:
370:
366:
362:
359:. PYGM has a
358:
354:
351:. This gene,
350:
346:
342:
341:Phosphorylase
335:
333:
331:
327:
323:
319:
315:
314:phosphoserine
311:
310:alpha helixes
307:
303:
298:
294:
290:
286:
282:
281:chromosome 11
278:
274:
267:
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263:
258:
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68:
64:
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52:
48:
44:
39:
32:
27:
22:
16:
2082:Transferases
2050:Translocases
2047:
2034:
2021:
2008:
1995:
1985:Transferases
1982:
1969:
1826:Binding site
1747:transferases
1552:transferases
1163:
1127:transferases
1104:Transferases
1069:
1057:
1056:
1011:. Retrieved
1006:
997:
964:
960:
950:
923:
919:
909:
879:(5): 356–8.
876:
872:
866:
855:. Retrieved
851:
842:
807:
803:
773:
766:. Retrieved
762:
757:Homo sapiens
756:
717:
713:
703:
682:. Retrieved
678:
673:Homo sapiens
672:
644:
507:
504:Interactions
486:
474:hepatomegaly
450:glycogenosis
443:
420:
413:
393:
390:
352:
339:
306:beta strands
287:. PYGM, the
272:
271:
254:
247:
236:
212:carbohydrate
203:
197:
186:
182:
181:
139:
15:
1821:Active site
1206:Galactosyl-
580:, PPP1R3B,
458:duplication
234:of muscle.
224:muscle cell
161:Swiss-model
41:Identifiers
2071:Categories
2024:Isomerases
1998:Hydrolases
1865:Regulation
1159:Cellobiose
1013:2018-09-05
1009:. EMBL-EBI
857:2020-12-26
768:2018-08-31
684:2018-08-31
636:References
482:phenotypes
435:prefrontal
427:astrocytes
157:Structures
152:Search for
114:Other data
1903:EC number
1550:Pentosyl-
1465:Mannosyl-
1136:Glucosyl-
989:203582211
981:0960-8966
781:CC BY 4.0
400:phosphate
373:cytoplasm
324:in which
293:homodimer
268:Structure
141:q12-q13.2
120:EC number
96:NM_005609
55:NCBI gene
2087:EC 2.4.1
1927:Kinetics
1851:Cofactor
1814:Activity
1387:Fucosyl-
1154:Glycogen
1125:Hexosyl-
942:14568816
901:36805481
893:21382715
834:27899622
783:license.
608:See also
454:mutation
361:cofactor
336:Function
297:tetramer
208:glycogen
171:InterPro
2037:Ligases
1807:Enzymes
1765:ST8SIA4
1623:Sirtuin
1356:UGT2B28
1351:UGT2B17
1346:UGT2B15
1341:UGT2B11
1336:UGT2B10
1304:UGT1A10
1228:C1GALT1
967:: S39.
825:5210571
736:1150650
598:AGTPBP1
578:PDE4DIP
562:TRAPPC2
550:PACSIN3
538:PPP1R3A
369:cytosol
289:protein
220:glucose
214:) into
193:of the
191:isoform
167:Domains
137:Chr. 11
125:2.4.1.1
103:UniProt
2011:Lyases
1745:Sialyl
1741:2.4.99
1561:Ribose
1400:POFUT2
1395:POFUT1
1331:UGT2B7
1326:UGT2B4
1321:UGT2A3
1316:UGT2A2
1311:UGT2A1
1299:UGT1A9
1294:UGT1A8
1289:UGT1A7
1284:UGT1A6
1279:UGT1A5
1274:UGT1A4
1269:UGT1A3
1264:UGT1A1
1257:B3GAT3
1252:B3GAT2
1247:B3GAT1
1149:Starch
1053:(MeSH)
987:
979:
940:
899:
891:
832:
822:
734:
590:TRIM55
582:ARID1B
554:CLASP2
546:INPP5K
542:MAP3K3
534:PPP1CA
518:WDYHV1
514:PRKAB2
476:, and
318:lysine
195:enzyme
108:P11217
91:RefSeq
84:608455
46:Symbol
1963:Types
1713:XYLT2
1708:XYLT1
1696:Other
1681:ECGF1
1665:Other
1546:2.4.2
1532:ALG12
1483:POMT2
1478:POMT1
1455:FUT11
1450:FUT10
1121:2.4.1
985:S2CID
897:S2CID
570:IGBP1
530:PHKG1
404:(n-1)
381:brain
377:liver
353:PYGM,
308:, 43
285:exons
277:q arm
218:(not
132:Locus
2055:list
2048:EC7
2042:list
2035:EC6
2029:list
2022:EC5
2016:list
2009:EC4
2003:list
1996:EC3
1990:list
1983:EC2
1977:list
1970:EC1
1527:ALG9
1522:ALG8
1517:ALG6
1512:ALG3
1507:ALG2
1502:ALG1
1495:DPM3
1490:DPM1
1445:FUT9
1440:FUT8
1435:FUT7
1430:FUT6
1425:FUT5
1420:FUT4
1415:FUT3
1410:FUT2
1405:FUT1
1377:HAS3
1372:HAS2
1367:HAS1
1164:Myo-
1114:2.4)
977:ISSN
938:PMID
889:PMID
830:PMID
732:PMID
602:POMP
594:WWP1
574:SGCG
566:DNM2
558:LMNA
526:PYGB
522:PYGL
462:exon
456:and
437:and
379:and
273:PYGM
204:PYGM
79:OMIM
72:9726
67:HGNC
60:5837
49:PYGM
969:doi
928:doi
881:doi
820:PMC
812:doi
722:doi
718:250
586:TTN
487:An
460:in
396:(n)
347:in
330:Ser
328:of
279:of
264:).
185:or
2073::
1743::
1674::
1548::
1365::
1123::
1112:EC
1106::
1005:.
983:.
975:.
965:29
963:.
959:.
936:.
924:60
922:.
918:.
895:.
887:.
877:21
875:.
850:.
828:.
818:.
808:45
806:.
802:.
789:^
761:.
744:^
730:.
716:.
712:.
677:.
658:^
600:,
596:,
592:,
584:,
576:,
572:,
568:,
564:,
560:,
552:,
548:,
544:,
536:,
532:,
524:,
520:,
516:,
484:.
472:,
398:+
383:.
363:,
2057:)
2053:(
2044:)
2040:(
2031:)
2027:(
2018:)
2014:(
2005:)
2001:(
1992:)
1988:(
1979:)
1975:(
1799:e
1792:t
1785:v
1230:)
1226:(
1110:(
1096:e
1089:t
1082:v
1066:.
1016:.
991:.
971::
944:.
930::
903:.
883::
860:.
836:.
814::
771:.
738:.
724::
698:.
687:.
652:.
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