GYG1 (glycogenin 1)

2014-11-01  

Identity

HGNC
LOCATION
3q24
LOCUSID
ALIAS
GSD15,GYG
FUSION GENES

Other Information

Locus ID:

NCBI: 2992
MIM: 603942
HGNC: 4699
Ensembl: ENSG00000163754

Variants:

dbSNP: 2992
ClinVar: 2992
TCGA: ENSG00000163754
COSMIC: GYG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163754ENST00000296048P46976
ENSG00000163754ENST00000345003P46976
ENSG00000163754ENST00000461191C9JQ42
ENSG00000163754ENST00000473005C9J8R8
ENSG00000163754ENST00000483267G5E9W8
ENSG00000163754ENST00000484197P46976
ENSG00000163754ENST00000492285C9J7C7
ENSG00000163754ENST00000627418G5E9W8

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Diseases of carbohydrate metabolismREACTOMER-HSA-5663084
Glycogen storage diseasesREACTOMER-HSA-3229121
Myoclonic epilepsy of LaforaREACTOMER-HSA-3785653
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen synthesisREACTOMER-HSA-3322077
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221
Lysosomal glycogen catabolismREACTOMER-HSA-5357572
Glycogen storage disease type 0 (muscle GYS1)REACTOMER-HSA-3828062
Glycogen storage disease type II (GAA)REACTOMER-HSA-5357609
Glycogen storage disease type IV (GBE1)REACTOMER-HSA-3878781
Glycogen storage disease type XV (GYG1)REACTOMER-HSA-3814836
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
252729512014A new muscle glycogen storage disease associated with glycogenin-1 deficiency.15
158701022005Increases in glycogenin and glycogenin mRNA accompany glycogen resynthesis in human skeletal muscle.9
266522292016Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.5
158606842005Glycogenin activity and mRNA expression in response to volitional exhaustion in human skeletal muscle.4
291433132018Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.4
173118952007Glycogenin protein and mRNA expression in response to changing glycogen concentration in exercise and recovery.3
221982262012Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.3
242398742014LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.3
303562132018Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis.3
293213652017Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.2

Citation

Dessen P

GYG1 (glycogenin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64133/gyg1