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FLASH GENE
Symbol PYGM contributors: mct - updated : 10-01-2014
HGNC name phosphorylase, glycogen, muscle
HGNC id 9726
Corresponding disease
PYGM glycogen storage disease V
Location 11q13.1      Physical location : 64.513.861 - 64.528.187
Synonym name
  • myophosphorylase
  • phosphorylase, glycogen, muscle (McArdle syndrome, glycogen storage disease type V)
  • myophosphorylase
  • EC.number 2.4.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 14.33 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see MEN1 MEN1
    Physical map
    HSPC152 11q13.1 hypothetical protein HSPC152 PRDX5 11q13.1 peroxiredoxin 5 FLJ37970 11q12.3 hypothetical protein FLJ37970 RPS6KA4 11q11-q13 ribosomal protein S6 kinase, 90kDa, polypeptide 4 LOC387777 11 LOC387777 FLJ37045 11q13.1 hypothetical protein FLJ37045 SLC22A11 11q13.1 solute carrier family 22 (organic anion/cation transporter), member 11 SLC22A12 11q13.1 solute carrier family 22 (organic anion/cation transporter), member 12 NRXN2 11q13.2 neurexin 2 RASGRP2 11q13 RAS guanyl releasing protein 2 (calcium and DAG-regulated) PYGM 11q13.2 phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) SF1 11q13.2 splicing factor 1 MAP4K2 11q13 mitogen-activated protein kinase kinase kinase kinase 2 MEN1 11q13.2 multiple endocrine neoplasia I HSMDPKIN 11q13 multiple endocrine neoplasia I EHD1 11q13 EH-domain containing 1 KIAA0404 11q13.3-q13.5 EH-domain containing 1 PPP2R5B 11q13 protein phosphatase 2, regulatory subunit B (B56), beta isoform GPHA2 11q13.1 glycoprotein hormone alpha 2 LOC283129 11q13.1 hypothetical protein LOC283129 LOC116071 11q13.1 hypothetical protein BC012330
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 3633 97 842 - 2010 20957198
    18 - 3369 - 754 - 2010 20957198
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
    Reproductivemale systemprostate   
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine Pygm
    ortholog to rattus pygm
    Homologene
    FAMILY
  • glycogen phosphorylase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzing and regulating the breakdown of glycogen to glucose-1-phosphate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • two dimers associate into a tetramer to form the enzymatically active phosphorylase A
  • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • pyridoxal phosphate
  • protein
  • ACTN3 potentially regulates PYGM activity by altering its level of phosphorylation
  • to activate RAC1 and consequently PYGM, PRKCQ phosphorylates ARHGEF6 in T cells
  • cell & other
    REGULATION
    Other allosterically activated by AMP
    allosterically inhibited by ATP, ADP, and glucose-6-phosphate
    ASSOCIATED DISORDERS
    corresponding disease(s) PYGM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS