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Pygm Gene Detail
Summary
  • Symbol
    Pygm
  • Name
    muscle glycogen phosphorylase
  • Synonyms
    PG
  • Feature Type
    protein coding gene
  • IDs
    MGI:97830
    NCBI Gene: 19309
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:6434438-6448494 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 4.53 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    77 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97830
 protein coding gene Chr19:6434429-6448494 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024762
 protein coding gene Chr19:3438447-3453755 (+)
A/J MGP_AJ_G0024728
 protein coding gene Chr19:3250165-3265114 (+)
AKR/J MGP_AKRJ_G0024701
 protein coding gene Chr19:3348452-3362440 (+)
BALB/cJ MGP_BALBcJ_G0024728
 protein coding gene Chr19:3248398-3262375 (+)
C3H/HeJ MGP_C3HHeJ_G0024496
 protein coding gene Chr19:3368482-3382974 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025174
 protein coding gene Chr19:3491444-3505092 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022608
 protein coding gene Chr19:3172835-3188049 (+)
CAST/EiJ MGP_CASTEiJ_G0023968
 protein coding gene Chr19:3393981-3407660 (+)
CBA/J MGP_CBAJ_G0024468
 protein coding gene Chr19:3662860-3676622 (+)
DBA/2J MGP_DBA2J_G0024595
 protein coding gene Chr19:3238892-3252659 (+)
FVB/NJ MGP_FVBNJ_G0024561
 protein coding gene Chr19:3255656-3269358 (+)
LP/J MGP_LPJ_G0024681
 protein coding gene Chr19:3404552-3418208 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024590
 protein coding gene Chr19:3484632-3500254 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025222
 protein coding gene Chr19:3373391-3387595 (+)
PWK/PhJ MGP_PWKPhJ_G0023714
 protein coding gene Chr19:3273443-3287077 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023519
 protein coding gene Chr19:3332638-3346672 (+)
WSB/EiJ MGP_WSBEiJ_G0024030
 protein coding gene Chr19:3387258-3402297 (+)



Homology
more
  • Human Ortholog
    PYGM, glycogen phosphorylase, muscle associated
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PYGM, glycogen phosphorylase, muscle associated
  • Synonyms
    GSD5
  • Links
    NCBI Gene ID: 5837
    neXtProt AC: NX_P11217
    UniProt: P11217

  • Chr Location
    11q13.1; chr11:64746389-64760715 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pygm mouse models; 1 with human PYGM associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    896
  • Tissues
    53
  • cDNA Data
    52
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19309 NCBI Gene Model | MGI Sequence Detail 14057 C57BL/6J ±  kb
    transcript NM_011224 RefSeq | MGI Sequence Detail 2887 ZRU/MplStud  
    polypeptide Q9WUB3 UniProt | EBI | MGI Sequence Detail 842 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000013522 glycogen phosphorylase, muscle form
      (term hierarchy)
    • EC
      2.4.1.1
    • InterPro Domains
      IPR011833 Glycogen/starch/alpha-glucan phosphorylase
      IPR000811 Glycosyl transferase, family 35
      IPR035090 Phosphorylase pyridoxal-phosphate attachment site
    • GlyGen
      Q9WUB3 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 57
      cDNA 54
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13703, MGI:2147475
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 12
      Phenotypes 19
    • Earliest
      J:10246 Glaser T, et al., Localization of the muscle, liver, and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12, and 2, respectively. Genomics. 1989 Oct;5(3):510-21
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory