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    PYGL glycogen phosphorylase L [ Homo sapiens (human) ]

    Gene ID: 5836, updated on 3-Nov-2024

    Summary

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    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
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    Genomic context

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    See PYGL in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50905217..50944483, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (45111656..45150908, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. 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
    2. Activation of the liver glycogen phosphorylase by Ca(2+)oscillations: a theoretical study. Gall D, et al. J Theor Biol, 2000 Dec 21. PMID 11093832
    3. Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL). Tomihira M, et al. Diabetes Res Clin Pract, 2004 Aug. PMID 15223230
    4. 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
    5. Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis. Zhu Y, et al. Future Oncol, 2022 Feb. PMID 35037470

    See all (109) 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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1,4-alpha-oligoglucan phosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables AMP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables D-glucose binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables bile acid 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 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

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    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_001163940.2 → 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_2024_08

    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.

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