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PYGB glycogen phosphorylase B [ Homo sapiens (human) ]

Gene ID: 5834, updated on 3-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25248085..25298012)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (25313131..25363101)
105.20220307 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: 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

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 SHG alpha-glucan phosphorylase activity IEA
Inferred from Electronic Annotation
more info
 
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 linear malto-oligosaccharide 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)

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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.

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_2023_10

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