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    PYGB glycogen phosphorylase B [ Homo sapiens (human) ]

    Gene ID: 5834, updated on 10-Dec-2024

    Summary

    Official Symbol
    PYGBprovided by HGNC
    Official Full Name
    glycogen phosphorylase Bprovided by HGNC
    Primary source
    HGNC:HGNC:9723
    See related
    Ensembl:ENSG00000100994 MIM:138550; AllianceGenome:HGNC:9723
    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
    GPBB
    Summary
    The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in colon (RPKM 67.8), heart (RPKM 66.8) and 23 other tissues See more
    Orthologs
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    Genomic context

    See PYGB in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25248085..25298012)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (25313131..25363101)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (25228721..25278648)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25194425-25194926 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25202205-25202966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25202967-25203726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25203727-25204488 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:25204539-25204720 Neighboring gene uncharacterized LOC105372579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17664 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:25218064-25219263 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:25222455-25223072 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:25227753-25228006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25274716-25275238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25276284-25276805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25280703-25281254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25281255-25281805 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:25289826-25291025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25297613-25298222 Neighboring gene abhydrolase domain containing 12, lysophospholipase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25310906-25311427 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25337131-25337731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25337732-25338331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12748 Neighboring gene peptidylprolyl isomerase A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12752 Neighboring gene uncharacterized LOC105372581 Neighboring gene MPRA-validated peak4176 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17669 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:25388698-25389455 Neighboring gene GINS complex subunit 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC9213

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycogen phosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycogen phosphorylase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables maltodextrin phosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyridoxal phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in glycogen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycogen catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    glycogen phosphorylase, brain form
    Names
    phosphorylase, glycogen; brain
    NP_002853.2
    XP_047296298.1
    XP_054179761.1

    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.

    mRNA and Protein(s)

    1. NM_002862.4NP_002853.2  glycogen phosphorylase, brain form

      See identical proteins and their annotated locations for NP_002853.2

      Status: REVIEWED

      Source sequence(s)
      AL121772
      Consensus CDS
      CCDS13171.1
      UniProtKB/Swiss-Prot
      P11216, Q96AK1, Q9NPX8
      UniProtKB/TrEMBL
      Q59GM9
      Related
      ENSP00000216962.3, ENST00000216962.9
      Conserved Domains (1) summary
      cd04300
      Location:29828
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      25248085..25298012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440342.1XP_047296298.1  glycogen phosphorylase, brain form isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      25313131..25363101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323786.1XP_054179761.1  glycogen phosphorylase, brain form isoform X1