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 rat... See more...

Aliases for PYGB Gene

Aliases for PYGB Gene

  • Glycogen Phosphorylase B 2 3 5
  • Glycogen Phosphorylase, Brain Form 2 3 4
  • Phosphorylase, Glycogen; Brain 2 3
  • EC 2.4.1.1 4 51
  • GPBB 3
  • PYGB 5

External Ids for PYGB Gene

Previous GeneCards Identifiers for PYGB Gene

  • GC20P025216
  • GC20P025223
  • GC20P025176
  • GC20P025228
  • GC20P025186

Summaries for PYGB Gene

Entrez Gene Summary for PYGB Gene

  • 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]

GeneCards Summary for PYGB Gene

PYGB (Glycogen Phosphorylase B) is a Protein Coding gene. Diseases associated with PYGB include Glycogen Storage Disease Viii and Glycogen Storage Disease Iii. Among its related pathways are Activation of cAMP-Dependent PKA and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycogen phosphorylase activity. An important paralog of this gene is PYGM.

UniProtKB/Swiss-Prot Summary for PYGB Gene

  • Glycogen phosphorylase that regulates glycogen mobilization (PubMed:27402852). Phosphorylase is an important allosteric enzyme in carbohydrate metabolism (PubMed:3346228). Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates (PubMed:3346228). However, all known phosphorylases share catalytic and structural properties (PubMed:3346228).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PYGB Gene

Genomics for PYGB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PYGB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PYGB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PYGB

Top Transcription factor binding sites by QIAGEN in the PYGB gene promoter:
  • CREB
  • deltaCREB
  • En-1
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a
  • SEF-1 (1)

Genomic Locations for PYGB Gene

Genomic Locations for PYGB Gene
chr20:25,248,039-25,298,012
(GRCh38/hg38)
Size:
49,974 bases
Orientation:
Plus strand
chr20:25,228,705-25,278,650
(GRCh37/hg19)
Size:
49,946 bases
Orientation:
Plus strand

Genomic View for PYGB Gene

Genes around PYGB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYGB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYGB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PYGB Gene

Proteins for PYGB Gene

  • Protein details for PYGB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11216-PYGB_HUMAN
    Recommended name:
    Glycogen phosphorylase, brain form
    Protein Accession:
    P11216
    Secondary Accessions:
    • Q96AK1
    • Q9NPX8

    Protein attributes for PYGB Gene

    Size:
    843 amino acids
    Molecular mass:
    96696 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A.

    Three dimensional structures from OCA and Proteopedia for PYGB Gene

neXtProt entry for PYGB Gene

Selected DME Specific Peptides for PYGB Gene

P11216:
  • TLVKDRNV
  • DTQVVLA
  • TLYNRIK
  • IPELMRI
  • YAREIWGVEP
  • EEADDWLR
  • GKELRLKQ
  • KAWEITKKT
  • IGDVVNHDP
  • VAIQLNDTHP
  • RWIRTQQHYY
  • LPVHFYGRVEH
  • DPKRIYYLSLE
  • NNTVNTMRLWSA
  • GYGIRYEFGIF
  • GRTLQNTMVNL
  • HDRFKVFADYE
  • TNGITPRRW
  • PEALERW
  • HAVNGVA
  • YDTPVPGY
  • LPRHLEIIY
  • VNTMRLWSAKAP
  • KQISVRG
  • LGNGGLGRLA
  • NISRVLYP
  • VKINPSSMFD
  • FKDFYELEP
  • LDSMATL
  • NKTNGIT
  • RTVMIGGKA
  • FSSDRTI
  • EASGTGNMK
  • IIKLVTS
  • DVDRLRRMS
  • KRIHEYKRQL
  • WLRYGNPWEKARPE
  • NGALTIGT
  • FGCRDPVRT
  • ELRLKQEYF
  • DFNVGDYI
  • NLGLQNACDEAIYQLGLD
  • IFLENYRVSLAEKVIPA

Post-translational modifications for PYGB Gene

  • Phosphorylated (PubMed:27402852). Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A (By similarity).
  • Ubiquitination at Lys371 and Lys521
  • Modification sites at PhosphoSitePlus

Other Protein References for PYGB Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PYGB Gene

Gene Families for PYGB Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PYGB Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 35
ProtoNet:

Suggested Antigen Peptide Sequences for PYGB Gene

GenScript: Design optimal peptide antigens:
  • Glycogen phosphorylase, brain form (PYGB_HUMAN)
  • Phosphorylase (Q5JWL9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11216

UniProtKB/Swiss-Prot:

PYGB_HUMAN :
  • Belongs to the glycogen phosphorylase family.
Family:
  • Belongs to the glycogen phosphorylase family.
genes like me logo Genes that share domains with PYGB: view

Function for PYGB Gene

Molecular function for PYGB Gene

UniProtKB/Swiss-Prot Function:
Glycogen phosphorylase that regulates glycogen mobilization (PubMed:27402852). Phosphorylase is an important allosteric enzyme in carbohydrate metabolism (PubMed:3346228). Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates (PubMed:3346228). However, all known phosphorylases share catalytic and structural properties (PubMed:3346228).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate; Xref=Rhea:RHEA:41732, Rhea:RHEA-COMP:9584, Rhea:RHEA-COMP:9586, ChEBI:CHEBI:15444, ChEBI:CHEBI:43474, ChEBI:CHEBI:58601; EC=2.4.1.1; Evidence={ECO:0000269|PubMed:27402852};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity of phosphorylase is controlled both by allosteric means (through the non-covalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B. Activated upon phosphorylation.
GENATLAS Biochemistry:
phosphorylase,glycogen catabolism,brain

Enzyme Numbers (IUBMB) for PYGB Gene

Phenotypes From GWAS Catalog for PYGB Gene

Gene Ontology (GO) - Molecular Function for PYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004645 phosphorylase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008184 glycogen phosphorylase activity IEA,NAS 3346228
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PYGB: view
genes like me logo Genes that share phenotypes with PYGB: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PYGB

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYGB

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PYGB Gene

Localization for PYGB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PYGB gene
Compartment Confidence
extracellular 4
cytosol 4
lysosome 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IBA,IDA 10638593
GO:0016020 membrane HDA 19946888
GO:0035578 azurophil granule lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with PYGB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PYGB Gene

Pathways & Interactions for PYGB Gene

PathCards logo

SuperPathways for PYGB Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Galactose metabolism
.38
.01
3 Innate Immune System
4 Metabolism
5 Glucose metabolism
genes like me logo Genes that share pathways with PYGB: view

Pathways by source for PYGB Gene

2 GeneGo (Thomson Reuters) pathways for PYGB Gene
  • Galactose metabolism
  • Glycogen metabolism
4 Qiagen pathways for PYGB Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • cAMP Pathway
  • PKA Signaling

Gene Ontology (GO) - Biological Process for PYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process IEA --
GO:0005980 glycogen catabolic process NAS 3346228
GO:0008152 metabolic process IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with PYGB: view

No data available for SIGNOR curated interactions for PYGB Gene

Drugs & Compounds for PYGB Gene

(15) Drugs for PYGB Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
Gluconolactone Approved, Experimental Pharma 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Glucose 6-phosphate Experimental Pharma 0

(14) Additional Compounds for PYGB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
Glucose 1-phosphate
  • 1-O-phosphono-D-Glucopyranose
  • Cori ester
  • D-Glucose 1-phosphate
  • GLC-1-P
  • Glucose 1-phosphoric acid
2255-14-3, 59-56-3
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PYGB: view

Transcripts for PYGB Gene

mRNA/cDNA for PYGB Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYGB

Alternative Splicing Database (ASD) splice patterns (SP) for PYGB Gene

No ASD Table

Relevant External Links for PYGB Gene

GeneLoc Exon Structure for
PYGB

Expression for PYGB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PYGB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PYGB Gene

This gene is overexpressed in Salivary gland (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PYGB Gene



Protein tissue co-expression partners for PYGB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PYGB

SOURCE GeneReport for Unigene cluster for PYGB Gene:

Hs.368157

Evidence on tissue expression from TISSUES for PYGB Gene

  • Nervous system(4.9)
  • Skin(4.8)
  • Liver(4.7)
  • Blood(4.7)
  • Lung(4.7)
  • Intestine(4.5)
  • Heart(4.4)
  • Muscle(3.6)
  • Eye(2.9)
  • Pancreas(2.5)
  • Gall bladder(2.4)
  • Adrenal gland(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PYGB: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PYGB Gene

Orthologs for PYGB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PYGB Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia PYGB 31
  • 99 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia PYGB 30
  • 96.65 (n)
Oppossum
(Monodelphis domestica)
Mammalia PYGB 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PYGB 30 31
  • 89.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PYGB 30 31
  • 89.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pygb 30 17 31
  • 88.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pygb 30
  • 88.53 (n)
Chicken
(Gallus gallus)
Aves PYGB 30 31
  • 82.68 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PYGB 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pygm 30
  • 77.74 (n)
Str.6167 30
African clawed frog
(Xenopus laevis)
Amphibia pygm-prov 30
Zebrafish
(Danio rerio)
Actinopterygii pygb 30 31
  • 76.63 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4316 30
Fruit Fly
(Drosophila melanogaster)
Insecta GlyP 31 32
  • 71 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T22F3.3 31
  • 64 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPH1 31
  • 45 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 62 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4721 30
Species where no ortholog for PYGB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PYGB Gene

ENSEMBL:
Gene Tree for PYGB (if available)
TreeFam:
Gene Tree for PYGB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PYGB: view image

Paralogs for PYGB Gene

Paralogs for PYGB Gene

(2) SIMAP similar genes for PYGB Gene using alignment to 2 proteins:

  • PYGB_HUMAN
  • H0Y4Z6_HUMAN
genes like me logo Genes that share paralogs with PYGB: view

Variants for PYGB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PYGB Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
713733 Benign: not provided 25,274,603(+) C/T SYNONYMOUS_VARIANT
713734 Benign: not provided 25,294,301(+) G/A INTRON_VARIANT
718469 Likely Benign: not provided 25,248,348(+) C/G MISSENSE_VARIANT
735387 Likely Benign: not provided 25,292,413(+) G/A SYNONYMOUS_VARIANT
769084 Benign: not provided 25,280,954(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PYGB Gene

Structural Variations from Database of Genomic Variants (DGV) for PYGB Gene

Variant ID Type Subtype PubMed ID
dgv4290n100 CNV gain 25217958
dgv779e214 CNV gain 21293372
esv3645581 CNV loss 21293372
esv3645582 CNV loss 21293372
esv3645583 CNV gain 21293372
nsv522873 CNV gain 19592680
nsv585746 CNV gain 21841781
nsv828708 CNV gain 20364138
nsv833948 CNV loss 17160897
nsv953009 CNV deletion 24416366

Variation tolerance for PYGB Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.72; 91.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYGB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PYGB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PYGB Gene

Disorders for PYGB Gene

MalaCards: The human disease database

(4) MalaCards diseases for PYGB Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease viii
  • glycogen storage disease type viii
glycogen storage disease iii
  • gsd3
glycogen storage disease v
  • gsd5
myocardial infarction
  • myocardial infarction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PYGB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PYGB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PYGB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PYGB Gene

Publications for PYGB Gene

  1. Insights into Brain Glycogen Metabolism: THE STRUCTURE OF HUMAN BRAIN GLYCOGEN PHOSPHORYLASE. (PMID: 27402852) Mathieu C … Rodrigues-Lima F (The Journal of biological chemistry 2016) 3 4
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41
  5. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 41

Products for PYGB Gene

Sources for PYGB Gene