PYGL - glycogen phosphorylase L Gene

Also Known as GSD6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5836

About PYGL

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:50,905,217-50,944,483 (from NCBI)

This gene has 7 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in fat (RPKM 75.5), bone marrow (RPKM 44.9) and 16 other tissues.

Summary

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive Phosphorylase B to active Phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen Phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen Phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

PYGL Products (2)

mRNA	Protein	Name
NM_001163940.2	NP_001157412.1	glycogen phosphorylase, liver form isoform 2
NM_002863.5	NP_002854.3	glycogen phosphorylase, liver form isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables AMP binding	IDA IDA: Inferred from direct assay	10949035	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	10949035	GOA
enables D-glucose binding	IDA IDA: Inferred from direct assay	10980448	GOA
enables bile acid binding	IDA IDA: Inferred from direct assay	12204691	GOA
enables glycogen phosphorylase activity	IDA IDA: Inferred from direct assay	22225877	GOA
enables glycogen phosphorylase activity	IMP IMP: Inferred from mutant phenotype	9529348	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	10980448	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables purine nucleobase binding	IDA IDA: Inferred from direct assay	12204691	GOA
enables vitamin binding	IDA IDA: Inferred from direct assay	12204691	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glucose homeostasis	IMP IMP: Inferred from mutant phenotype	17705025	GOA
involved in glycogen metabolic process	IMP IMP: Inferred from mutant phenotype	10980448	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

PYGL Protein Structure

Phosphorylase

0
200
400
600
800
847 a.a.

Protein Preferred Names	Protein Names
glycogen phosphorylase, liver form	phosphorylase, glycogen, liver

PYGL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PYGL	P06737	PYGB	Homo sapiens	P11216	Validated Y2H	25910212
Intra	PYGL	P06737	PYGB	Homo sapiens	P11216	Y2H Bait-Prey Pool	25910212
Intra	PYGL	P06737	PYGB	Homo sapiens	P11216	Y2H Array	25910212
Intra	PYGL	P06737	PYGB	Homo sapiens	P11216	Validated Y2H	32296183
Intra	PYGL	P06737	PYGB	Homo sapiens	P11216	Y2H Prey Pooling	32296183
Intra	PYGL	P06737	PYGB	Homo sapiens	P11216	Y2H Array	32296183
Intra	PYGL	P06737	PYGM	Homo sapiens	P11217	Validated Y2H	32296183
Intra	PYGL	P06737	PYGM	Homo sapiens	P11217	Y2H Array	32296183
Intra	PYGL	P06737	PYGM	Homo sapiens	P11217	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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	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
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Glycogen Storage Disease Ix
Glycogen Storage Disease Ixb	GSD9B Gsd Ixb Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive Glycogen Storage Disease Type 9b Glycogen Storage Disease Type Ixb Glycogenosis Due To Liver And Muscle Phosphorylase Kinase Deficiency Glycogenosis Type 9b Glycogenosis Type Ixb Gsd Due To Liver And Muscle Phosphorylase Kinase Deficiency Gsd Type 9b Gsd Type Ixb Glycogenosis Of Liver And Muscle, Autosomal Recessive Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency Glycogen Storage Disease 9b Gsd-Ixb Phosphorylase Kinase Deficiency Of Liver And Muscle Storage Disease, Glycogen, Type Ixb
Glycogen Storage Disease Ixa	Glycogen Storage Disease Type 9a Glycogen Storage Disease Type Ixa Glycogenosis Type 9a Glycogenosis Type Ixa Gsd Type 9a Gsd Type Ixa Gsd9a
Glycogen Storage Disease V	Mcardle Disease Myophosphorylase Deficiency Glycogen Storage Disease Type V Muscle Glycogen Phosphorylase Deficiency Pygm Deficiency Gsd V Glycogen Storage Disease, Type V Glycogenosis Type V Glycogen Storage Disease Type 5 GSD5 Pygmy Mcardle'S Disease Mcardle Type Glycogen Storage Disease Gsd Type V Pygmy, African Gsdv Gsd 5 Glycogenosis 5 Mcardle Syndrome Muscle Phosphorylase Deficiency Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency Gsd Due To Muscle Glycogen Phosphorylase Deficiency Gsd Type 5 Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency Glycogenosis Type 5 Glycogen Storage Disease 5 Gsd-V Mcardles Disease Storage Disease, Glycogen, Type V
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

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-RS11489	PYGL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20806	Pygl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27320	Pygl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PYGL	MGD	MGI:97829
Felis catus	PYGL	VGNC	VGNC:69193
Macaca mulatta	PYGL	VGNC	VGNC:76632
Bos taurus	PYGL	VGNC	VGNC:33588
Rattus norvegicus	PYGL	RGD	RGD:620687
Canis familiaris	PYGL	VGNC	VGNC:45225
Others	PYGL	NCBI