U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PYGL glycogen phosphorylase L [ Homo sapiens (human) ]

Gene ID: 5836, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
PYGLprovided by HGNC
Official Full Name
glycogen phosphorylase Lprovided by HGNC
Primary source
HGNC:HGNC:9725
See related
Ensembl:ENSG00000100504 MIM:613741; AllianceGenome:HGNC:9725
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSD6
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]
Expression
Broad expression in fat (RPKM 75.5), bone marrow (RPKM 44.9) and 16 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
14q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50905217..50944483, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (45111656..45150908, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51371935..51411201, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U83B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5733 Neighboring gene abhydrolase domain containing 12B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:51359698-51360520 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:51362989-51363812 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:51376986-51378185 Neighboring gene mitochondrial ribosomal protein L57 pseudogene 9 Neighboring gene uncharacterized LOC124903314 Neighboring gene PYGL intron CAGE-defined low expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5734 Neighboring gene uncharacterized LOC400212 Neighboring gene Sharpr-MPRA regulatory region 6562 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:51452525-51453231 Neighboring gene tripartite motif containing 9 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:51495109-51496308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5735

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis. Zhu Y, et al. Future Oncol, 2022 Feb. PMID 35037470
  2. Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase. Figlak K, et al. Sci Rep, 2021 Oct 21. PMID 34675331, Free PMC Article
  3. Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review. Zhan Q, et al. Medicine (Baltimore), 2021 Apr 23. PMID 33879691, Free PMC Article
  4. Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review. Lu SQ, et al. J Pediatr Endocrinol Metab, 2020 Sep 7. PMID 32892177
  5. Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports. Luo X, et al. BMC Med Genet, 2020 Apr 8. PMID 32268899, Free PMC Article

See all (95) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.
    Title: miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.
  2. Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis.
    Title: Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis.
  3. Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase.
    Title: Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase.
  4. Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis.
    Title: Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis.
  5. The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation.
    Title: The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation.
  6. Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
    Title: Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
  7. Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
    Title: Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
  8. Description of two GSD VI patients expanding the spectrum of PYGL mutations.
    Title: Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Glycogen storage disease, type VI
MedGen: C0017925 OMIM: 232700 GeneReviews: Glycogen Storage Disease Type VI
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
EBI GWAS Catalog
Genome-wide association study of atypical psychosis.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AMP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables SHG alpha-glucan phosphorylase activity IEA
Inferred from Electronic Annotation
more info
  
enables bile acid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucose binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycogen phosphorylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glycogen phosphorylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycogen phosphorylase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables linear malto-oligosaccharide phosphorylase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables purine nucleobase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables vitamin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in 5-phosphoribose 1-diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycogen catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycogen metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in necroptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
glycogen phosphorylase, liver form
Names
phosphorylase, glycogen, liver
NP_001157412.1
NP_002854.3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012796.1 RefSeqGene

    Range
    5048..44314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163940.2 → NP_001157412.1  glycogen phosphorylase, liver form isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks in an in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AA523002, BC095850
    Consensus CDS
    CCDS53894.1
    UniProtKB/TrEMBL
    B2R825
    Related
    ENSP00000443787.1, ENST00000544180.6
    Conserved Domains (1) summary
    cd04300
    Location:29 → 794
    GT1_Glycogen_Phosphorylase; This is a family of oligosaccharide phosphorylases. It includes yeast and mammalian glycogen phosphorylases, plant starch/glucan phosphorylase, as well as the maltodextrin phosphorylases of bacteria. The members of this family catalyze the breakdown of ...

  2. NM_002863.5 → NP_002854.3  glycogen phosphorylase, liver form isoform 1

    See identical proteins and their annotated locations for NP_002854.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA523002, BC095850
    Consensus CDS
    CCDS32080.1
    UniProtKB/Swiss-Prot
    A6NDQ4, B4DUB7, F5H816, O60567, O60752, O60913, P06737, Q501V9, Q641R5, Q96G82
    UniProtKB/TrEMBL
    B2R825
    Related
    ENSP00000216392.7, ENST00000216392.8
    Conserved Domains (1) summary
    cd04300
    Location:29 → 828
    GT35_Glycogen_Phosphorylase; glycogen phosphorylase and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    50905217..50944483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    45111656..45150908 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P06737.4 GenPept UniProtKB/Swiss-Prot:P06737

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous