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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 (Glycogen Phosphorylase L) is a Protein Coding gene. Diseases associated with PYGL include Glycogen Storage Disease Vi and Glycogen Storage Disease. Among its related pathways are Activation of cAMP-Dependent PKA and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and drug binding. An important paralog of this gene is PYGB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0002060 | purine nucleobase binding | IDA | 12204691 |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004645 | phosphorylase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0034774 | secretory granule lumen | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
2 | Galactose metabolism |
Galactose metabolism
.38
|
Glycogen metabolism
.01
|
3 | Innate Immune System |
.61
|
|
4 | Metabolism |
.40
|
|
5 | Glucose metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0005977 | glycogen metabolic process | IMP | 10980448 |
GO:0005980 | glycogen catabolic process | TAS | -- |
GO:0006015 | 5-phosphoribose 1-diphosphate biosynthetic process | IEA | -- |
GO:0008152 | metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dexamethasone | Approved, Investigational, Vet_approved | Pharma | Agonist | Anti-inflammatory glucocorticoid | 2886 | |
Methotrexate | Approved | Pharma | Folate antagonist,inhibits DFHR | 1825 | ||
Gluconolactone | Approved, Experimental | Pharma | 0 | |||
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Glucose 1-phosphate |
|
2255-14-3, 59-56-3 |
|
|||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
|||
purine |
|
120-73-0 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PYGL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PYGL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PYGL 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PYGL 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PYGL 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pygl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pygl 30 |
|
||
Chicken (Gallus gallus) |
Aves | PYGL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PYGL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pygl 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pygl 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | GlyP 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | T22F3.3 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F10065g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GPH1 30 31 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR547W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G29320 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.321 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.7010 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.11216 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.1279 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.13152 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07027 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638850 | Uncertain Significance: Glycogen storage disease, type VI | 50,908,924(-) | G/A | MISSENSE_VARIANT | |
639783 | Uncertain Significance: Glycogen storage disease, type VI | 50,924,070(-) | C/T | MISSENSE_VARIANT | |
641245 | Likely Benign: Glycogen storage disease, type VI | 50,935,167(-) | C/T | MISSENSE_VARIANT | |
643804 | Likely Pathogenic: Glycogen storage disease, type VI | 50,920,955(-) | C/T | SPLICE_DONOR_VARIANT | |
645342 | Likely Pathogenic: Glycogen storage disease, type VI | 50,920,952(-) | TCA/T | SPLICE_DONOR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1083n106 | CNV | deletion | 24896259 |
dgv637e212 | CNV | loss | 25503493 |
esv2748710 | CNV | deletion | 23290073 |
esv3245718 | CNV | deletion | 24192839 |
esv33577 | CNV | gain | 17666407 |
esv3551546 | CNV | deletion | 23714750 |
esv3581193 | CNV | loss | 25503493 |
esv3634494 | CNV | loss | 21293372 |
esv3892542 | CNV | loss | 25118596 |
esv4830 | CNV | loss | 18987735 |
esv7846 | CNV | loss | 19470904 |
nsv820614 | CNV | deletion | 20802225 |
nsv826950 | CNV | gain+loss | 20364138 |
nsv826951 | CNV | gain | 20364138 |
nsv832794 | CNV | gain | 17160897 |
nsv952837 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease vi |
|
|
glycogen storage disease |
|
|
hypoglycemia |
|
|
glycogen storage disease ix |
|
|
glycogen storage disease ixa |
|
|