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PYGL glycogen phosphorylase L [ Homo sapiens (human) ]

Gene ID: 5836, updated on 12-Sep-2021

Summary

Official Symbol
PYGLprovided by HGNC
Official Full Name
glycogen phosphorylase Lprovided by HGNC
Primary source
HGNC:HGNC:9725
See related
Ensembl:ENSG00000100504 MIM:613741
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
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Genomic context

See PYGL in Genome Data Viewer
Location:
14q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (50905217..50944483, complement)
105.20201022 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 uncharacterized LOC105370491 Neighboring gene abhydrolase domain containing 12B Neighboring gene mitochondrial ribosomal protein L57 pseudogene 9 Neighboring gene PYGL intron CAGE-defined low expression enhancer Neighboring gene uncharacterized LOC105370492 Neighboring gene uncharacterized LOC400212 Neighboring gene tripartite motif containing 9

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
GeneReviews: Not available
Genome-wide association study of atypical psychosis.
GeneReviews: Not available
Glycogen storage disease, type VI Compare labs

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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

Preferred Names
glycogen phosphorylase, liver form
Names
phosphorylase, glycogen, liver
NP_001157412.1
NP_002854.3

NCBI Reference Sequences (RefSeq)

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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_001163940.2NP_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/Swiss-Prot
    P06737
    Related
    ENSP00000443787.1, ENST00000544180.6
    Conserved Domains (1) summary
    cd04300
    Location:29794
    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_002863.5NP_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
    P06737
    Related
    ENSP00000216392.7, ENST00000216392.8
    Conserved Domains (1) summary
    cd04300
    Location:29828
    GT35_Glycogen_Phosphorylase; glycogen phosphorylase and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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