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Pygl Gene Detail
Summary
  • Symbol
    Pygl
  • Name
    liver glycogen phosphorylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:97829
    NCBI Gene: 110095
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:70237589-70274457 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 29.01 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1371 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97829
 protein coding gene Chr12:70237585-70278262 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019808
 protein coding gene Chr12:69922127-69969054 (-)
A/J MGP_AJ_G0019766
 protein coding gene Chr12:67321236-67356640 (-)
AKR/J MGP_AKRJ_G0019742
 protein coding gene Chr12:69328750-69365515 (-)
BALB/cJ MGP_BALBcJ_G0019746
 protein coding gene Chr12:67782151-67817013 (-)
C3H/HeJ MGP_C3HHeJ_G0019552
 protein coding gene Chr12:69810910-69857706 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020198
 protein coding gene Chr12:72151511-72198252 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017818
 protein coding gene Chr12:64850145-64887462 (-)
CAST/EiJ MGP_CASTEiJ_G0019103
 protein coding gene Chr12:64559862-64605375 (-)
CBA/J MGP_CBAJ_G0019521
 protein coding gene Chr12:74855336-74891288 (-)
DBA/2J MGP_DBA2J_G0019637
 protein coding gene Chr12:67232956-67268443 (-)
FVB/NJ MGP_FVBNJ_G0019624
 protein coding gene Chr12:66133066-66167892 (-)
LP/J MGP_LPJ_G0019709
 protein coding gene Chr12:69901956-69943725 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019663
 protein coding gene Chr12:78120012-78166908 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020233
 protein coding gene Chr12:68818002-68857512 (-)
PWK/PhJ MGP_PWKPhJ_G0018868
 protein coding gene Chr12:61504733-61542800 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018663
 protein coding gene Chr12:63194826-63241761 (-)
WSB/EiJ MGP_WSBEiJ_G0019154
 protein coding gene Chr12:69449232-69493988 (-)



Homology
more
  • Human Ortholog
    PYGL, glycogen phosphorylase L
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PYGL, glycogen phosphorylase L
  • Synonyms
    GSD6
  • Links
    NCBI Gene ID: 5836
    neXtProt AC: NX_P06737
    UniProt: P06737

  • Chr Location
    14q22.1; chr14:50857891-50944483 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pygl mouse models; 3 with human PYGL associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
    19 phenotypes from 1 allele in 1 genetic background
    11 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 allele exhibit hepatomegaly, hepatic glycogen accumulation, ketotic hypoglycemia, activated hepatic stellate cells, inflammatory infiltrates in hepatic vessels, elevated serum transaminases and model glycogen storage disease.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    39
  • GO References
    14
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
    822
  • Tissues
    106
  • cDNA Data
    10
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110095 NCBI Gene Model | MGI Sequence Detail 36869 C57BL/6J ±  kb
    transcript NM_133198 RefSeq | MGI Sequence Detail 2821 ZRU/MplStud  
    polypeptide Q9ET01 UniProt | EBI | MGI Sequence Detail 850 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 11
      Primer pair 4

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-13702
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 14
      Diseases 1
      Gene Ontology 14
      Phenotypes 11
    • Earliest
      J:9387 Aldrich CJ, et al., Regulation of Qa-1 expression and determinant modification by an H-2D-linked gene, Qdm. Immunogenetics. 1988;28(5):334-44
    • Latest
      J:348785 Zhang D, et al., Maternal Ezh1/2 deficiency impairs the function of mitochondria in mouse oocytes and early embryos. J Cell Physiol. 2024 Mar 26;
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory