Format

Send to:

Choose Destination
    • Showing Current items.

    PYGL glycogen phosphorylase L [ Homo sapiens (human) ]

    Gene ID: 5836, updated on 31-Jul-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    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_001163940.2NP_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)
    Support Center