GYG1 (glycogenin 1)

2014-11-01  

Identity

HGNC
GYG1
LOCATION
3q24
LOCUSID
2992
ALIAS
GSD15,GYG
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
357936182022The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.7
357936182022The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.7
339896362021Crystal structure and mutational analysis of the human TRIM7 B30.2 domain provide insights into the molecular basis of its binding to glycogenin-1.1
339896362021Crystal structure and mutational analysis of the human TRIM7 B30.2 domain provide insights into the molecular basis of its binding to glycogenin-1.1
316893532019From the seminal discovery of proteoglycogen and glycogenin to emerging knowledge and research on glycogen biology.4
316893532019From the seminal discovery of proteoglycogen and glycogenin to emerging knowledge and research on glycogen biology.4
291433132018Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.9
303562132018Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis.15
291433132018Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.9
303562132018Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis.15
293213652017Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.3
293213652017Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.3
266522292016Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.9
266522292016Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.9
242398742014LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.4

Citation

Dessen P

GYG1 (glycogenin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64133/js/case-report-explorer/teaching-explorer/