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Gyg1 Gene Detail
Summary
  • Symbol
    Gyg1
  • Name
    glycogenin 1
  • Synonyms
    Gyg
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351614
    NCBI Gene: 27357
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:20176248-20209228 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 6.19 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    267 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351614
 protein coding gene Chr3:20176248-20209481 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027100
 protein coding gene Chr3:17349259-17382281 (-)
A/J MGP_AJ_G0027060
 protein coding gene Chr3:17255030-17288263 (-)
AKR/J MGP_AKRJ_G0027029
 protein coding gene Chr3:17438663-17482741 (-)
BALB/cJ MGP_BALBcJ_G0027072
 protein coding gene Chr3:17004186-17037492 (-)
C3H/HeJ MGP_C3HHeJ_G0026813
 protein coding gene Chr3:17458467-17491695 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027517
 protein coding gene Chr3:18447586-18481983 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024879
 protein coding gene Chr3:15303588-15337399 (-)
CAST/EiJ MGP_CASTEiJ_G0026268
 protein coding gene Chr3:17350306-17385693 (-)
CBA/J MGP_CBAJ_G0026791
 protein coding gene Chr3:18851335-18884602 (-)
DBA/2J MGP_DBA2J_G0026925
 protein coding gene Chr3:16869851-16902613 (-)
FVB/NJ MGP_FVBNJ_G0026893
 protein coding gene Chr3:16529377-16563439 (-)
LP/J MGP_LPJ_G0027037
 protein coding gene Chr3:17987091-18020324 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026914
 protein coding gene Chr3:20908848-20942641 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027577
 protein coding gene Chr3:17212401-17245661 (-)
PWK/PhJ MGP_PWKPhJ_G0026001
 protein coding gene Chr3:16569956-16602905 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025810
 protein coding gene Chr3:17008706-17042462 (-)
WSB/EiJ MGP_WSBEiJ_G0026341
 protein coding gene Chr3:17219620-17254645 (-)



Homology
more
  • Human Ortholog
    GYG1, glycogenin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GYG1, glycogenin 1
  • Synonyms
    GSD15, GYG
  • Links
    NCBI Gene ID: 2992
    neXtProt AC: NX_P46976
    UniProt: P46976

  • Chr Location
    3q24; chr3:148991408-149031775 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gyg1 mouse models; 2 with human GYG1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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 knock-out allele exhibit partial neonatal lethality due to cardiorespiratory failure, increased glycogen level in skeletal and cardiac muscle, decreased energy expenditure, abnormalities in cellular respiration and muscle electrophysiology, and impaired exercise endurance.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    7
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
non-membrane-bounded 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
    890
  • Tissues
    129
  • cDNA Data
    111
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 27357 NCBI Gene Model | MGI Sequence Detail 32981 C57BL/6J ±  kb
    transcript NM_001355261 RefSeq | MGI Sequence Detail 1720 ZRU/MplStud  
    polypeptide Q9R062 UniProt | EBI | MGI Sequence Detail 333 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 112
      cDNA 111
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2139868
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 12
      Diseases 2
      Gene Ontology 7
      Phenotypes 10
    • Earliest
      J:58254 van Maanen M, et al., Characterization of mouse glycogenin-1 cDNA and promoter region. Biochim Biophys Acta. 1999 Oct 28;1447(2-3):284-90
    • Latest
      J:300001 Testoni G, et al., Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome. Hum Mol Genet. 2021 Jan 6;29(21):3554-3565
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory