GYG1 - glycogenin 1 Gene

Also Known as GYG; GSD15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2992

About GYG1

Cytogenetic location: 3q24 Genomic coordinates (GRCh38): 3:148,991,540-149,031,775 (from NCBI)

This gene has 14 transcripts (splice variants), 278 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in bone marrow (RPKM 53.8), testis (RPKM 49.1) and 25 other tissues.

Summary

This gene encodes a member of the glycogenin family. Glycogenin is a Glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and Other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

GYG1 Products (3)

mRNA	Protein	Name
NM_001184720.2	NP_001171649.1	glycogenin-1 isoform 2
NM_001184721.2	NP_001171650.1	glycogenin-1 isoform 3
NM_004130.4	NP_004121.2	glycogenin-1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables glycogenin glucosyltransferase activity	EXP EXP: Inferred from Experiment	20357282	GOA
enables glycogenin glucosyltransferase activity	IDA IDA: Inferred from direct assay	22160680	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	22160680	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	22160680	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glycogen biosynthetic process	IMP IMP: Inferred from mutant phenotype	22160680	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GYG1 Protein Structure

Glyco_transf_8

0
100
200
300
350 a.a.

Protein Preferred Names	Protein Names
glycogenin-1	GN-1

GYG1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GYG1	P46976	GYS1	Homo sapiens	P13807	Pull Down	17055998
Intra	GYG1	P46976	GYS1	Homo sapiens	P13807	Anti Tag CoIP	35271311
Intra	GYG1	P46976	GYS1	Homo sapiens	P13807	Y2H Array	25416956
Intra	GYG1	P46976	GYS1	Homo sapiens	P13807	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Glycogen Storage Disease Xv	GSD15 Gsd Xv Glycogenin Deficiency Gyg1 Deficiency Glycogen Storage Disease Type Xv Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency Gsd Type 15 Gsd Type Xv Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency Glycogen Storage Disease Type 15 Glycogenosis Type 15 Glycogenosis Type Xv Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency Glycogen Storage Disease 15 Storage Disease, Glycogen, Type Xv
Polyglucosan Body Myopathy 2	Polyglucosan Body Myopathy Type 2 PGBM2 Myopathy, Polyglucosan Body, Type 2
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Myoclonic Epilepsy Of Lafora	Lafora Disease Epilepsy, Progressive Myoclonic 2b EPM2 Melf Epilepsy, Progressive Myoclonic 2a Epm2a Lafora'S Disease Lafora Body Disease Lbd Epilepsy, Progressive Myoclonic, 2a Lafora Progressive Myoclonic Epilepsy Epilepsy Progressive Myoclonic 2 Lafora Body Disorder Pme Type 2 Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonus Epilepsy Type 2 Epilepsy, Progressive Myoclonic 2 Epm2b Ld Progressive Myoclonic Epilepsy 2 Progressive Myoclonic Epilepsy 2a Progressive Myoclonic Epilepsy 2b Progressive Myoclonic Epilepsy Lafora Type Epilepsy, Myoclonic, Of Lafora
Glycogen Storage Disease Type 0	Glycogen Synthase Deficiency Glycogen Storage Disease 0 Glycogen Synthetase Deficiency Gsd 0 Gsd Type 0 Hypoglycemia With Deficiency Of Glycogen Synthetase
Glycogen Storage Disease Vi	Glycogen Storage Disease Type Vi Hers Disease GSD6 Gsd Vi Hepatic Glycogen Phosphorylase Deficiency Phosphorylase Deficiency Glycogen-Storage Disease Of Liver Hers' Disease Glycogen Storage Disease Type 6 Glycogen Storage Disease 6 Gsd Type Vi Glycogenosis Type Vi Glycogen Storage Disease, Type Vi Hepatophosphorylase Deficiency Glycogenosis Liver Phosphorylase Deficiency Syndrome Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency Gsd Due To Liver Glycogen Phosphorylase Deficiency Gsd Type 6 Glycogenosis Due To Liver Glycogen Phosphorylase Deficiency Glycogenosis Type 6 Hepatic Phosphorylase Deficiency Liver Glycogen Phosphorylase Deficiency Her Glycogen Storage Disease Vib Gsd-Vi Liver Phosphorylase Deficiency Storage Disease, Glycogen, Type Vi
Glycogen Storage Disease Iii	Glycogen Storage Disease Type Iii Forbes Disease Cori Disease Glycogen Storage Disease Iiia Amylo-1,6-Glucosidase Deficiency Glycogen Storage Disease Iiib Limit Dextrinosis GSD3 Agl Deficiency Glycogen Debrancher Deficiency Gde Deficiency Glycogen Storage Disease Iiic Debrancher Deficiency Glycogen Storage Disease Type 3 Glycogenosis Type Iii Glycogen Storage Disease Iiid Amylo 1,6 Glucosidase Deficiency Deficiency Of Debranching Enzyme Deficiency Of Dextrin Glycogen Storage Disease, Type Iii Glycogen Debranching Enzyme Deficiency Cori'S Disease Gsd Iii Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency Cori-Forbes Disease Gsd Due To Glycogen Debranching Enzyme Deficiency Gsd Type 3 Gsdiii Glycogenosis Due To Glycogen Debranching Enzyme Deficiency Glycogenosis Type 3 Glycogen Storage Disease 3 Glycogen Debranching Enzyme Deficiency Gsd-Iii Gsd Iiia Gsd Iiib Gsd Iiic Gsd Iiid Storage Disease, Glycogen, Type Iii
Myopathy	Muscular Diseases Myopathies
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Glycogen Storage Disease Ia	Von Gierke Disease Glycogen Storage Disease Type I Glycogen Storage Disease I Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis Glucose-6-Phosphatase Deficiency Glycogen Storage Disease, Type I Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia GSD1A Gsd1 Von Gierke'S Disease Glycogen Storage Disease Type 1a Glycogen Storage Disease 1a Glucose-6-Phosphate Transport Defect Gsd Ia Deficiency Of Glucose-6-Phosphatase Glycogenosis Type I Glucose-6-Phosphatase Deficiency Glycogen Storage Disease Glycogenosis Type 1 Glucose-6-Phosphate Deficiency Gsd I Gsd Type I G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type Ia Gsd Type 1a Gsdia Glycogen Storage Disease Due To G6p Deficiency Type Ia Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia Glycogenosis Type Ia Gsd-Ia Storage Disease, Glycogen, Type 1a Glycogen Storage Disease Type Ia
Glycogen Storage Disease Ii	Pompe Disease Glycogen Storage Disease Type Ii Acid Maltase Deficiency Gsd Ii Gaa Deficiency Alpha-1,4-Glucosidase Deficiency Glycogenosis Type Ii GSD2 Acid Alpha-Glucosidase Deficiency Amd Glycogen Storage Disease, Type Ii Pompe'S Disease Glycogen Storage Disease Type 2 Cardiomegalia Glycogenica Diffusa Acid Maltase Deficiency Disease Deficiency Of Alpha-Glucosidase Glycogenosis, Generalized, Cardiac Form Deficiency Of Glucoamylase Deficiency Of Maltase Generalized Glycogenosis Glycogenosis, Type 2 Lysosomal Alpha-1,4-Glucosidase Deficiency Glucosidase Acid-1,4-Alpha Deficiency Aglucosidase Alfa Deficiency Of Lysosomal Alpha-Glucosidase Glycogen Storage Disease Due To Acid Maltase Deficiency Alpha-1,4-Glucosidase Acid Deficiency Gsd Due To Acid Maltase Deficiency Gsd Type 2 Gsd Type Ii Glycogenosis Due To Acid Maltase Deficiency Glycogenosis Type 2 Glycogen Storage Disease 2 Cardiomegalia Glycogenica Glycogenosis Generalized Cardiac Form Glycogenosis Ii Gsd-Ii Storage Disease, Glycogen, Type Ii Generalized Glycogen Storage Disease Of Infants Cardiac Form Of Generalized Glycogenosis
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05930	GYG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21353	Gyg1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27872	Gyg1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GYG1	VGNC	VGNC:41572
Mus musculus	GYG1	MGD	MGI:1351614
Bos taurus	GYG1	VGNC	VGNC:29728
Macaca mulatta	GYG1	VGNC	VGNC:73332
Felis catus	GYG1	VGNC	VGNC:67521
Rattus norvegicus	GYG1	RGD	RGD:621785
Others	GYG1	NCBI