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NameGlycogen phosphorylase, muscle form
Synonyms
  • 2.4.1.1
  • Myophosphorylase
Gene NamePYGM
OrganismHuman
Amino acid sequence
>lcl|BSEQ0001824|Glycogen phosphorylase, muscle form
MSRPLSDQEKRKQISVRGLAGVENVTELKKNFNRHLHFTLVKDRNVATPRDYYFALAHTV
RDHLVGRWIRTQQHYYEKDPKRIYYLSLEFYMGRTLQNTMVNLALENACDEATYQLGLDM
EELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGIRYEFGIFNQKISGGWQMEEA
DDWLRYGNPWEKARPEFTLPVHFYGHVEHTSQGAKWVDTQVVLAMPYDTPVPGYRNNVVN
TMRLWSAKAPNDFNLKDFNVGGYIQAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFV
VAATLQDIIRRFKSSKFGCRDPVRTNFDAFPDKVAIQLNDTHPSLAIPELMRILVDLERM
DWDKAWDVTVRTCAYTNHTVLPEALERWPVHLLETLLPRHLQIIYEINQRFLNRVAAAFP
GDVDRLRRMSLVEEGAVKRINMAHLCIAGSHAVNGVARIHSEILKKTIFKDFYELEPHKF
QNKTNGITPRRWLVLCNPGLAEVIAERIGEDFISDLDQLRKLLSFVDDEAFIRDVAKVKQ
ENKLKFAAYLEREYKVHINPNSLFDIQVKRIHEYKRQLLNCLHVITLYNRIKREPNKFFV
PRTVMIGGKAAPGYHMAKMIIRLVTAIGDVVNHDPAVGDRLRVIFLENYRVSLAEKVIPA
ADLSEQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGEENFFIFGMRVEDVD
KLDQRGYNAQEYYDRIPELRQVIEQLSSGFFSPKQPDLFKDIVNMLMHHDRFKVFADYED
YIKCQEKVSALYKNPREWTRMVIRNIATSGKFSSDRTIAQYAREIWGVEPSRQRLPAPDE
AI
Number of residues842
Molecular Weight97091.265
Theoretical pI7.03
GO Classification
Functions
  • glycogen phosphorylase activity
  • drug binding
  • pyridoxal phosphate binding
  • AMP binding
  • carbohydrate binding
Processes
  • small molecule metabolic process
  • carbohydrate metabolic process
  • glucose metabolic process
  • glycogen catabolic process
  • glycogen metabolic process
  • response to cAMP
  • response to hypoxia
  • cellular calcium ion homeostasis
Components
  • cytosol
  • extracellular exosome
  • sarcoplasmic reticulum
  • cytoplasm
General FunctionPyridoxal phosphate binding
Specific FunctionPhosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID190784
UniProtKB IDP11217
UniProtKB Entry NamePYGM_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0010645|Glycogen phosphorylase, muscle form (PYGM)
ATGTCCCGGCCCCTGTCAGACCAAGAGAAAAGAAAGCAAATCAGTGTGCGTGGCCTGGCC
GGCGTGGAGAACGTGACTGAGCTGAAAAAGAACTTCAACCGGCACCTGCATTTCACACTC
GTAAAGGACCGCAATGTGGCCACCCCACGAGACTACTACTTTGCTCTGGCCCATACCGTG
CGCGACCACCTCGTGGGGCGCTGGATCCGCACGCAGCAGCACTACTATGAGAAGGACCCC
AAGAAGATCTCCGGGGGCTGGCAGATGGAGGAGGCCGATGACTGGCTTCGCTACGGCAAC
CCCTGGGAGAAGGCCCGGCCCGAGTTCACGCTACCTGTGCACTTCTACGGCCATGTGGAG
CACACCAGCCAGGGTGCCAAGTGGGTGGACACACAGGTGGTACTGGCCATGCCCTACGAT
ACGCCCGTGCCTGGCTATCGCAACAATGTTGTCAACACCATGCGCCTCTGGTCTGCCAAG
GCTCCCAATGACTTCAACCTCAAGGACTTCAATGTCGGTGGCTACATCCAGGCTGTGTTG
GACCGAAACCTGGCGGAGAACATCTCTCGTGTCCTGTACCCCAATGATAATTTCTTCGAA
GGGAAGGAGCTGCGGCTGAAGCAGGAGTATTTCGTGGTGGCTGCCACCCTCCAGGACATC
ATCCGTCGCTTCAAGTCTTCCAAGTTCGGCTGCCGTGATCCCGTGCGCACGAACTTCGAT
GCCTTCCCAGATAAGGTGGCCATCCAGCTCAATGACACCCACCCCTCCCTGGCCATCCCC
GAGCTGATGAGGATCCTGGTGGACCTGGAACGGATGGACTGGGACAAGGCGTGGGATGTG
ACAGTGAGGACCTGTGCCTACACCAACCACACGGTGCTGCCCGAGGCCCTGGAGCGCTGG
CCGGTGCACCTCTTGGAGACGCTGCTGCCGCGGCACCTCCAGATCATCTACGAGATCAAC
CAGCGCTTCCTCAACCGGGTGGCGGCCGCATTCCCAGGGGACGTAGACCGGCTGCGGCGC
ATGTCGCTGGTGGAGGAGGGCGCAGTGAAGCGCATCAACATGGCACACCTGTGCATCGCG
GGGTCGCACGCCGTCAACGGCGTGGCGCGCATCCACTCCGAGATCCTCAAGAAGACCATC
TTCAAAGACTTCTATGAGCTGGAGCCTCATAAGTTCCAGAATAAGACCAACGGCATCACC
CCTCGGCGCTGGCTGGTTCTGTGTAACCCCGGGCTGGCAGAGGTCATTGCTGAGCGCATC
GGGGAGGACTTCATCTCTGACCTGGACCAGCTGCGCAAACTGCTCTCCTTTGTGGATGAT
GAAGCTTTCATTCGGGATGTGGCCAAAGTGAAGCAGGAAAACAAGTTGAAGTTTGCTGCC
TACCTAGAGAGGGAATACAAAGTCCACATCAACCCCAACTCACTCTTCGACATCCAGGTG
AAGCGGATTCACGAATATAAACGACAGCTCCTCAACTGCCTCCATGTCATCACCCTGTAC
AACCGCATCAAGAGGGAGCCCAATAAGTTTTTTGTGCCTCGGACTGTGATGATTGGAGGG
AAGGCTGCACCTGGGTACCACATGGCCAAGATGATCATCAGACTCGTCACAGCCATCGGG
GATGTGGTCAACCATGACCCGGCAGTGGGTGACCGCCTCCGTGTCATCTTCCTGGAGAAC
TACCGAGTCTCACTGGCCGAGAAAGTGATCCCAGCTGCAGACCTCTCTGAGCAGATCTCC
ACTGCGGGCACTGAAGCCTCAGGCACCGGCAACATGAAGTTCATGCTCAACGGGGCTCTG
ACCATTGGCACCATGGACGGGGCCAATGTGGAGATGGCAGAAGAGGCGGGAGAGGAAAAC
TTCTTCATCTTTGGCATGCGGGTGGAGGATGTGGATAAGCTTGACCAAAGAGGGTACAAT
GCCCAGGAGTACTACGATCGCATTCCTGAGCTTCGGCAGGTCATTGAGCAGCTGAGCAGT
GGCTTCTTCTCCCCCAAACAGCCCGACCTGTTCAAGGACATTGTCAATATGCTCATGCAC
CATGACCGGTTTAAAGTCTTCGCAGATTATGAAGACTACATTAAATGCCAGGAGAAAGTC
AGCGCCTTGTACAAGAACCCAAGAGAGTGGACGCGGATGGTGATCCGGAACATAGCCACC
TCTGGCAAGTTCTCCAGTGACCGCACCATTGCCCAGTATGCCCGGGAGATCTGGGGTGTG
GAGCCTTCCCGCCAGCGCCTGCCAGCCCCGGATGAGGCCATCTGA
GenBank Gene IDM32598
GeneCard IDNot Available
GenAtlas IDPYGM
HGNC IDHGNC:9726
Chromosome Location11
Locus11q12-q13.2
References
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  2. Kubisch C, Wicklein EM, Jentsch TJ: Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation. Hum Mutat. 1998;12(1):27-32. 9633816
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  7. Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus JC: Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis. J Clin Invest. 1987 Jan;79(1):275-81. 3466902
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  19. Martin MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J: A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. Neuromuscul Disord. 2000 Aug;10(6):447-9. 10899452
  20. Martin MA, Rubio JC, Buchbinder J, Fernandez-Hojas R, del Hoyo P, Teijeira S, Gamez J, Navarro C, Fernandez JM, Cabello A, Campos Y, Cervera C, Culebras JM, Andreu AL, Fletterick R, Arenas J: Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. Ann Neurol. 2001 Nov;50(5):574-81. 11706962
  21. Bruno C, Lanzillo R, Biedi C, Iadicicco L, Minetti C, Santoro L: Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. Neuromuscul Disord. 2002 Jun;12(5):498-500. 12031624