LOCUS       NM_005609               2866 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens glycogen phosphorylase, muscle associated (PYGM),
            transcript variant 1, mRNA.
ACCESSION   NM_005609
VERSION     NM_005609.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2866)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 2866)
  AUTHORS   Thomas-Wilson,A., Dharmadhikari,A.V., Heymann,J.J., Jobanputra,V.,
            DiMauro,S., Hirano,M., Naini,A.B. and Ganapathi,M.
  TITLE     Whole-exome sequencing detects PYGM variants in two adults with
            McArdle disease
  JOURNAL   Cold Spring Harb Mol Case Stud 8 (2), a006173 (2022)
   PUBMED   35022222
  REMARK    GeneRIF: Whole-exome sequencing detects PYGM variants in two adults
            with McArdle disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2866)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2866)
  AUTHORS   Migocka-Patrzalek,M. and Elias,M.
  TITLE     Muscle Glycogen Phosphorylase and Its Functional Partners in Health
            and Disease
  JOURNAL   Cells 10 (4), 883 (2021)
   PUBMED   33924466
  REMARK    GeneRIF: Muscle Glycogen Phosphorylase and Its Functional Partners
            in Health and Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2866)
  AUTHORS   Carvalho,A.A.S., Christofolini,D.M., Perez,M.M., Alves,B.C.A.,
            Rodart,I., Figueiredo,F.W.S., Turke,K.C., Feder,D., Junior,M.C.F.,
            Nucci,A.M. and Fonseca,F.L.A.
  TITLE     PYGM mRNA expression in McArdle disease: Demographic, clinical,
            morphological and genetic features
  JOURNAL   PLoS One 15 (7), e0236597 (2020)
   PUBMED   32735634
  REMARK    GeneRIF: PYGM mRNA expression in McArdle disease: Demographic,
            clinical, morphological and genetic features.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2866)
  AUTHORS   Martin,M.A., Lucia,A., Arenas,J. and Andreu,A.L.
  TITLE     Glycogen Storage Disease Type V
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301518
REFERENCE   7  (bases 1 to 2866)
  AUTHORS   Lebo,R.V., Anderson,L.A., DiMauro,S., Lynch,E., Hwang,P. and
            Fletterick,R.
  TITLE     Rare McArdle disease locus polymorphic site on 11q13 contains CpG
            sequence
  JOURNAL   Hum Genet 86 (1), 17-24 (1990)
   PUBMED   1701414
REFERENCE   8  (bases 1 to 2866)
  AUTHORS   Sarova-Pinhas,I. and Sadeh,M.
  TITLE     McArdle disease in a Druze family
  JOURNAL   Isr J Med Sci 25 (2), 64-68 (1989)
   PUBMED   2703328
REFERENCE   9  (bases 1 to 2866)
  AUTHORS   Carlson,M., Nakamura,Y., Gillilan,S., O'Connell,P., Lebo,R.,
            Gorin,F., Lathrop,G.M., Lalouel,J.M. and White,R.
  TITLE     Isolation and mapping of a polymorphic DNA sequence for human
            muscle glycogen phosphorylase (pMCMP1) on chromosome II [PYGM]
  JOURNAL   Nucleic Acids Res 16 (21), 10403 (1988)
   PUBMED   2461546
REFERENCE   10 (bases 1 to 2866)
  AUTHORS   Carty,T.J., Tu,J.-I. and Graves,D.J.
  TITLE     Regulation of glycogen phosphorylase. Role of the peptide region
            surrounding the phosphoserine residue in determining enzyme
            properties
  JOURNAL   J Biol Chem 250 (13), 4980-4985 (1975)
   PUBMED   1150650
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC130514.1 and AJ572752.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005609.3.
            
            Summary: This gene encodes a muscle enzyme involved in
            glycogenolysis. Highly similar enzymes encoded by different genes
            are found in liver and brain. Mutations in this gene are associated
            with McArdle disease (myophosphorylase deficiency), a glycogen
            storage disease of muscle. Alternative splicing results in multiple
            transcript variants.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.219881.1,
                                           SRR1803611.188289.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000164139.4/ ENSP00000164139.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2662              BC130514.1         324-2985
            2663-2866           AJ572752.1         171-374
FEATURES             Location/Qualifiers
     source          1..2866
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2866
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /note="glycogen phosphorylase, muscle associated"
                     /db_xref="GeneID:5837"
                     /db_xref="HGNC:HGNC:9726"
                     /db_xref="MIM:608455"
     exon            1..319
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..2605
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /EC_number="2.4.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myophosphorylase; glycogen phosphorylase, muscle form;
                     phosphorylase, glycogen, muscle"
                     /codon_start=1
                     /product="glycogen phosphorylase, muscle form isoform 1"
                     /protein_id="NP_005600.1"
                     /db_xref="CCDS:CCDS8079.1"
                     /db_xref="GeneID:5837"
                     /db_xref="HGNC:HGNC:9726"
                     /db_xref="MIM:608455"
                     /translation="MSRPLSDQEKRKQISVRGLAGVENVTELKKNFNRHLHFTLVKDR
                     NVATPRDYYFALAHTVRDHLVGRWIRTQQHYYEKDPKRIYYLSLEFYMGRTLQNTMVN
                     LALENACDEATYQLGLDMEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGI
                     RYEFGIFNQKISGGWQMEEADDWLRYGNPWEKARPEFTLPVHFYGHVEHTSQGAKWVD
                     TQVVLAMPYDTPVPGYRNNVVNTMRLWSAKAPNDFNLKDFNVGGYIQAVLDRNLAENI
                     SRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKSSKFGCRDPVRTNFDAFPDKV
                     AIQLNDTHPSLAIPELMRILVDLERMDWDKAWDVTVRTCAYTNHTVLPEALERWPVHL
                     LETLLPRHLQIIYEINQRFLNRVAAAFPGDVDRLRRMSLVEEGAVKRINMAHLCIAGS
                     HAVNGVARIHSEILKKTIFKDFYELEPHKFQNKTNGITPRRWLVLCNPGLAEVIAERI
                     GEDFISDLDQLRKLLSFVDDEAFIRDVAKVKQENKLKFAAYLEREYKVHINPNSLFDI
                     QVKRIHEYKRQLLNCLHVITLYNRIKREPNKFFVPRTVMIGGKAAPGYHMAKMIIRLV
                     TAIGDVVNHDPAVGDRLRVIFLENYRVSLAEKVIPAADLSEQISTAGTEASGTGNMKF
                     MLNGALTIGTMDGANVEMAEEAGEENFFIFGMRVEDVDKLDQRGYNAQEYYDRIPELR
                     QVIEQLSSGFFSPKQPDLFKDIVNMLMHHDRFKVFADYEDYIKCQEKVSALYKNPREW
                     TRMVIRNIATSGKFSSDRTIAQYAREIWGVEPSRQRLPAPDEAI"
     exon            320..421
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            422..500
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            501..604
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            605..736
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            737..848
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            849..931
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1075
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1168
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1315
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1479
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1594
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1696
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1697..1844
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1845..1903
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1904..2045
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2253
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2254..2388
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2389..2455
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2456..2866
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2845..2850
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /note="hexamer: AATAAA"
     polyA_site      2866
                     /gene="PYGM"
                     /gene_synonym="GSD5"
                     /note="major polyA site"
ORIGIN      
        1 actccttggc tggaggcagt gctgaggccg ccgtcccctc taccatcagt ccagtccggc
       61 ccgccctcct gcagccatgt cccggcccct gtcagaccaa gagaaaagaa agcaaatcag
      121 tgtgcgtggc ctggccggcg tggagaacgt gactgagctg aaaaagaact tcaaccggca
      181 cctgcatttc acactcgtaa aggaccgcaa tgtggccacc ccacgagact actactttgc
      241 tctggcccat accgtgcgcg accacctcgt ggggcgctgg atccgcacgc agcagcacta
      301 ctatgagaag gaccccaaga ggatctacta cctgtcttta gagttctata tgggacggac
      361 gctacagaac accatggtga acctggcctt agagaatgcc tgtgacgagg ccacctacca
      421 gctgggcctg gacatggagg agctggagga aattgaggag gatgcggggc tgggcaacgg
      481 gggcctgggc cggctggcag cctgctttct tgactccatg gcaacactgg gcctggccgc
      541 ctatggctac gggattcgct atgagtttgg gatttttaac cagaagatct ccgggggctg
      601 gcagatggag gaggccgatg actggcttcg ctacggcaac ccctgggaga aggcccggcc
      661 cgagttcacg ctacctgtgc acttctacgg ccatgtggag cacaccagcc agggtgccaa
      721 gtgggtggac acacaggtgg tactggccat gccctacgat acgcccgtgc ctggctatcg
      781 caacaatgtt gtcaacacca tgcgcctctg gtctgccaag gctcccaatg acttcaacct
      841 caaggacttc aatgtcggtg gctacatcca ggctgtgttg gaccgaaacc tggcggagaa
      901 catctctcgt gtcctgtacc ccaatgataa tttcttcgaa gggaaggagc tgcggctgaa
      961 gcaggagtat ttcgtggtgg ctgccaccct ccaggacatc atccgtcgct tcaagtcttc
     1021 caagttcggc tgccgtgatc ccgtgcgcac gaacttcgat gccttcccag ataaggtggc
     1081 catccagctc aatgacaccc acccctccct ggccatcccc gagctgatga ggatcctggt
     1141 ggacctggaa cggatggact gggacaaggc gtgggatgtg acagtgagga cctgtgccta
     1201 caccaaccac acggtgctgc ccgaggccct ggagcgctgg ccggtgcacc tcttggagac
     1261 gctgctgccg cggcacctcc agatcatcta cgagatcaac cagcgcttcc tcaaccgggt
     1321 ggcggccgca ttcccagggg acgtagaccg gctgcggcgc atgtcgctgg tggaggaggg
     1381 cgcagtgaag cgcatcaaca tggcacacct gtgcatcgcg gggtcgcacg ccgtcaacgg
     1441 cgtggcgcgc atccactccg agatcctcaa gaagaccatc ttcaaagact tctatgagct
     1501 ggagcctcat aagttccaga ataagaccaa cggcatcacc cctcggcgct ggctggttct
     1561 gtgtaacccc gggctggcag aggtcattgc tgagcgcatc ggggaggact tcatctctga
     1621 cctggaccag ctgcgcaaac tgctctcctt tgtggatgat gaagctttca ttcgggatgt
     1681 ggccaaagtg aagcaggaaa acaagttgaa gtttgctgcc tacctagaga gggaatacaa
     1741 agtccacatc aaccccaact cactcttcga catccaggtg aagcggattc acgaatataa
     1801 acgacagctc ctcaactgcc tccatgtcat caccctgtac aaccgcatca agagggagcc
     1861 caataagttt tttgtgcctc ggactgtgat gattggaggg aaggctgcac ctgggtacca
     1921 catggccaag atgatcatca gactcgtcac agccatcggg gatgtggtca accatgaccc
     1981 ggcagtgggt gaccgcctcc gtgtcatctt cctggagaac taccgagtct cactggccga
     2041 gaaagtgatc ccagctgcag acctctctga gcagatctcc actgcgggca ctgaagcctc
     2101 aggcaccggc aacatgaagt tcatgctcaa cggggctctg accattggca ccatggacgg
     2161 ggccaatgtg gagatggcag aagaggcggg agaggaaaac ttcttcatct ttggcatgcg
     2221 ggtggaggat gtggataagc ttgaccaaag agggtacaat gcccaggagt actacgatcg
     2281 cattcctgag cttcggcagg tcattgagca gctgagcagt ggcttcttct cccccaaaca
     2341 gcccgacctg ttcaaggaca ttgtcaatat gctcatgcac catgaccggt ttaaagtctt
     2401 cgcagattat gaagactaca ttaaatgcca ggagaaagtc agcgccttgt acaagaaccc
     2461 aagagagtgg acgcggatgg tgatccggaa catagccacc tctggcaagt tctccagtga
     2521 ccgcaccatt gcccagtatg cccgggagat ctggggtgtg gagccttccc gccagcgcct
     2581 gccagccccg gatgaggcca tctgagcctc cagaccagac cccaaaccag cccttgagtc
     2641 tgtcacactc tcttgggcca gccccagcac ctcatgcaga gggtggggta ctggagttag
     2701 atctctaagc ccctcctgga accctcattt tccccactct caatgtccca gtgtccagcg
     2761 tgactaagga cacgggcccc cttccgtcct cgggctcccg gtcccctcct atttatgggg
     2821 tctgaccaac tgcacccact ccctaataaa ttcattctcc ttggga
//
