glycogenin 1

Summary
Gene Symbol
  • GYG1
Aliases
  • glycogenin glucosyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
2992
HGNC
4699
KEGG Gene ID
hsa:2992
PubChem
2992
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Glycogen biosynthesis
  • Glycogen storage disease
  • Glycoprotein
  • Manganese
  • Metal-binding
  • Phosphoprotein
  • Reference proteome
  • Transferase
Proteins
Displaying 1 entry
UniProt Protein Name
P46976
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
glycogen biosynthetic process
GO Hierarchy
Human Protein Atlas
ENSG00000163754

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00750
Name
glycogenin [EC:2.4.1.186]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 31 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050579 glycogen storage disease XV
DOID:0050700 cardiomyopathy
DOID:0060674 catecholaminergic polymorphic ventricular tachycardia
DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1
DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2
DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3
DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4
DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5
DOID:0111040 glycogen storage disease IXd
The Human Phenotype Ontology
Displaying entries 1 - 10 of 41 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000819 Diabetes mellitus
HP:0000821 Hypothyroidism
HP:0001324 Muscle weakness
HP:0001638 Cardiomyopathy
HP:0001663 Ventricular fibrillation
HP:0001714 Ventricular hypertrophy
HP:0001962 Palpitations
HP:0002321 Vertigo
HP:0002355 Difficulty walking
Displaying all 3 entries
Disease ID Disease Name
ORPHA:263297
  • glycogen storage disease XV
OMIM:613507
  • glycogen storage disease XV
OMIM:616199
  • polyglucosan body myopathy type 2

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024