Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: PYGL (glycogen phosphorylase L) Homo sapiens
Analyze
Symbol: PYGL
Name: glycogen phosphorylase L
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: glycogen phosphorylase, liver form; GSD6; liver (Hers disease, glycogen storage disease type VI); liver glycogen phosphorylase; phosphorylase, glycogen; phosphorylase, glycogen, liver
Orthologs:
Mus musculus (house mouse) : Pygl (liver glycogen phosphorylase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pygl (glycogen phosphorylase L)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pygl (glycogen phosphorylase L)
Pan paniscus (bonobo/pygmy chimpanzee) : PYGL (glycogen phosphorylase L)
Canis lupus familiaris (dog) : PYGL (glycogen phosphorylase L)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pygl (glycogen phosphorylase L)
Sus scrofa (pig) : PYGL (glycogen phosphorylase L)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381450,905,217 - 50,944,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371451,371,935 - 51,411,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361450,441,687 - 50,480,984 (-)NCBINCBI36hg18NCBI36
Build 341450,441,688 - 50,480,984NCBI
Celera1431,238,983 - 31,278,301 (-)NCBI
Cytogenetic Map14q22.1NCBI
HuRef1431,497,509 - 31,536,798 (-)NCBIHuRef
CHM1_11451,310,446 - 51,349,770 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PYGL
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731803
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.