PYGB glycogen phosphorylase B [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unveiling the role of PYGB in pancreatic cancer: a novel diagnostic biomarker and gene therapy target.
Title: Unveiling the role of PYGB in pancreatic cancer: a novel diagnostic biomarker and gene therapy target.
PYGB facilitates cell proliferation and invasiveness in non-small cell lung cancer by activating the Wnt-beta-catenin signaling pathway.
Title: PYGB facilitates cell proliferation and invasiveness in non-small cell lung cancer by activating the Wnt-β-catenin signaling pathway.
PYGB Promoted Tumor Progression by Regulating Wnt/beta-Catenin Pathway in Gastric Cancer.
Title: PYGB Promoted Tumor Progression by Regulating Wnt/β-Catenin Pathway in Gastric Cancer.
Authors showed that PYGB was upregulated in ovarian cancer tissue and high level of PYGB expression is markedly correlated with poor prognosis of ovarian cancer patients. PYGB knockdown significantly suppressed ovarian cancer cell proliferation, invasion and migration.
Title: Glycogen phosphorylase B promotes ovarian cancer progression via Wnt/β-catenin signaling and is regulated by miR-133a-3p.
This method allows absolute quantitative measurement when conventional calibration curve fails to provide accurate estimation of cardiac biomarkers, especially at low and high concentration ranges. Under an optimised condition, the LOD of our SERS-based muPAD was identified at 8, 10, and 1pgmL(-1), for GPBB, CK-MB and cTnT, respectively, which is well below the clinical cutoff values.
Title: Using SERS-based microfluidic paper-based device (μPAD) for calibration-free quantitative measurement of AMI cardiac biomarkers.
we identify PYGB as a novel metabolic target with potential applications in the management and/or prevention of metastasis in breast cancer.
Title: Breast cancers utilize hypoxic glycogen stores via PYGB, the brain isoform of glycogen phosphorylase, to promote metastatic phenotypes.
The mean plasma GPBB levels were higher in acute ischemic stroke cases than in controls.
Title: New biomarker for acute ischaemic stroke: plasma glycogen phosphorylase isoenzyme BB.
PYGB silencing suppressed the growth and promoted the apoptosis of prostate cancer cells by affecting the NFkappaB/Nrf2 signaling pathway.
Title: Silencing of PYGB suppresses growth and promotes the apoptosis of prostate cancer cells via the NF‑κB/Nrf2 signaling pathway.
PYGB siRNA exerted an inhibitory effect on the cell viability of the human osteosarcoma cells MG63 and HOS by blocking the Caspase/Bcl and CDK1 signaling pathway, highlighting novel potential therapeutic methods for treating osteosarcoma.
Title: PYGB siRNA inhibits the cell proliferation of human osteosarcoma cell lines.
Using cysteine chemical labeling, mass spectrometry, and site-directed mutagenesis approaches, we show that thiram (and certain of its metabolites) alters the activity of bGP through the formation of an intramolecular disulfide bond (Cys(318)-Cys(326)), known to act as a redox switch that precludes the allosteric activation of bGP by AMP.
Title: Molecular Mechanisms of Allosteric Inhibition of Brain Glycogen Phosphorylase by Neurotoxic Dithiocarbamate Chemicals.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH76548 (e-PCR)
- UniSTS:90159

RH39023 (e-PCR)
- UniSTS:86134

G62120 (e-PCR)
- UniSTS:139170

D20S589E (e-PCR)
- UniSTS:92844

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 more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: glycogen phosphorylase, brain form

Names: phosphorylase, glycogen; brain

NP_002853.2

EC 2.4.1.1

XP_047296298.1

EC 2.4.1.1

XP_054179761.1

EC 2.4.1.1

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)

NM_002862.4 → NP_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:29 → 828

GT35_Glycogen_Phosphorylase; glycogen phosphorylase and similar proteins