Glycogen phosphorylase, muscle form
Details
- Name
- Glycogen phosphorylase, muscle form
- Kind
- protein
- Synonyms
- 2.4.1.1
- Myophosphorylase
- Gene Name
- PYGM
- UniProtKB Entry
- P11217Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- 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 residues
- 842
- Molecular Weight
- 97091.265
- Theoretical pI
- 7.03
- GO Classification
- Functionslinear malto-oligosaccharide phosphorylase activity / nucleotide binding / SHG alpha-glucan phosphorylase activity
- General Function
- Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis
- Specific Function
- Glycogen phosphorylase activity
- Pfam Domain Function
- Phosphorylase (PF00343)
- Signal Regions
- Not Available
- Transmembrane Regions
- Not Available
- Cellular Location
- Not 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
- Chromosome Location
- 11
- Locus
- 11q13.1
- External Identifiers
Resource Link UniProtKB ID P11217 UniProtKB Entry Name PYGM_HUMAN GenBank Protein ID 190784 GenBank Gene ID M32598 GeneCard ID PYGM GenAtlas ID PYGM HGNC ID HGNC:9726 PDB ID(s) 1Z8D KEGG ID hsa:5837 NCBI Gene ID 5837 - General References
- Burke J, Hwang P, Anderson L, Lebo R, Gorin F, Fletterick R: Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins. 1987;2(3):177-87. [Article]
- 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. [Article]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
- Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. [Article]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
- Hwang PK, See YP, Vincentini AM, Powers MA, Fletterick RJ, Crerar MM: Comparative sequence analysis of rat, rabbit, and human muscle glycogen phosphorylase cDNAs. Eur J Biochem. 1985 Oct 15;152(2):267-74. [Article]
- 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. [Article]
- Carty TJ, Tu J-I, Graves DJ: Regulation of glycogen phosphorylase. Role of the peptide region surrounding the phosphoserine residue in determining enzyme properties. J Biol Chem. 1975 Jul 10;250(13):4980-5. [Article]
- Tsujino S, Shanske S, DiMauro S: Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med. 1993 Jul 22;329(4):241-5. [Article]
- Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S: Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). Hum Mutat. 1995;6(3):276-7. [Article]
- Tsujino S, Shanske S, Nonaka I, DiMauro S: The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). Muscle Nerve Suppl. 1995;3:S23-7. [Article]
- Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW: Mutation analysis in myophosphorylase deficiency (McArdle's disease). Ann Neurol. 1998 Mar;43(3):326-31. [Article]
- Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, Schwartz S, Dimauro S: A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact. Muscle Nerve. 1999 Aug;22(8):1136-8. [Article]
- Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, Navarro C, DiMauro S: A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. Neuromuscul Disord. 1999 May;9(3):171-3. [Article]
- Rubio JC, Martin MA, Garcia A, Campos Y, Cabello A, Culebras JM, Arenas J: McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient. Neuromuscul Disord. 1999 May;9(3):174-5. [Article]
- Fernandez R, Navarro C, Andreu AL, Bruno C, Shanske S, Gamez J, Teijeira S, Hernandez I, Teijeiro A, Fernandez JM, Musumeci O, DiMauro S: A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. Arch Neurol. 2000 Feb;57(2):217-9. [Article]
- Rubio JC, Martin MA, Campos Y, Auciello R, Cabello A, Arenas J: A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. Muscle Nerve. 2000 Jan;23(1):129-31. [Article]
- Rubio JC, Martin MA, Campos Y, Cabello A, Arenas J: A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease. Neuromuscul Disord. 2000 Feb;10(2):138-40. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
Associated Data
- Drug Relations