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Aliases for PYGB Gene

Aliases for PYGB Gene

  • Glycogen Phosphorylase B 2 3
  • Glycogen Phosphorylase, Brain Form 2 3
  • Phosphorylase, Glycogen; Brain 2 3
  • EC 2.4.1.1 4 61
  • Phosphorylase, Glycogen Brain 5
  • GPBB 3

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 Myocardial Infarction. Among its related pathways are Activation of cAMP-Dependent PKA and Metabolism. 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 for PYGB Gene

  • Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PYGB Gene

Genomics for PYGB Gene

Regulatory Elements for PYGB Gene

Enhancers for PYGB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F025245 1.7 FANTOM5 Ensembl ENCODE 37.4 +0.7 668 6.1 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 PYGB ABHD12 ENTPD6 ZNF337 FAM182A FAM182B ENSG00000274507
GH20F025354 1.3 Ensembl ENCODE 30.7 +108.3 108311 3.2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF207 ZNF263 ABHD12 PYGB ZNF337 GC20P025348 GC20M025368
GH20F025225 1.2 Ensembl ENCODE 32.4 -21.4 -21387 2.6 ELF3 HDAC1 MLX ARID4B FEZF1 DMAP1 DNMT3B ZNF366 ZNF207 EGR2 ABHD12 PYGB ENTPD6 FAM182A NINL ENSG00000279322 ENSG00000202414
GH20F025222 1.2 Ensembl ENCODE 32.2 -24.7 -24658 2.6 ATF1 ARID4B FEZF1 DMAP1 ZNF48 GLIS2 FOS SP5 JUNB REST PYGB ABHD12 ENTPD6 ENSG00000279322 ENSG00000202414
GH20F025194 1.1 ENCODE 31.3 -51.7 -51699 3.4 MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF143 SP3 SP5 MXD4 PYGB ENTPD6 ABHD12 ACSS1 FAM182B VSX1 CST7 NINL LOC101926889
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PYGB on UCSC Golden Path with GeneCards custom track

Promoters for PYGB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000399367 631 3001 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for PYGB Gene

Chromosome:
20
Start:
25,248,069 bp from pter
End:
25,298,014 bp from pter
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

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
  • Ubiquitination at Lys 371 and Lys 521
  • Modification sites at PhosphoSitePlus

Other Protein References for PYGB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PYGB (Glycogen Phosphorylase BB/GPBB)
  • Abcam antibodies for PYGB

Domains & Families for PYGB Gene

Gene Families for PYGB Gene

Protein Domains for PYGB Gene

Suggested Antigen Peptide Sequences for PYGB Gene

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

GENATLAS Biochemistry:
phosphorylase,glycogen catabolism,brain
UniProtKB/Swiss-Prot CatalyticActivity:
((1->4)-alpha-D-glucosyl)(n) + phosphate = ((1->4)-alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate.
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.
UniProtKB/Swiss-Prot Function:
Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.

Enzyme Numbers (IUBMB) for PYGB Gene

Gene Ontology (GO) - Molecular Function for PYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004645 phosphorylase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008184 glycogen phosphorylase activity IEA,NAS 3346228
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups 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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 5
cytosol 4
lysosome 4
plasma membrane 2
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 10638593
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 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

genes like me logo Genes that share pathways with PYGB: view

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,IBA 3346228
GO:0008152 metabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Glucose 6-phosphate Experimental Pharma 0
Gluconolactone Experimental Pharma 0
Glucose 1-phosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
amylose
  • (1,4-alpha-D-Glucosyl)N
  • (1,4-alpha-D-Glucosyl)N+1
  • (1,4-alpha-D-Glucosyl)N-1
  • (1,4-alpha-delta-Glucosyl)N
  • (1,4-alpha-delta-Glucosyl)N+1
9005-82-7
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PYGB: view

Transcripts for PYGB Gene

mRNA/cDNA for PYGB Gene

Unigene Clusters for PYGB Gene

Phosphorylase, glycogen; brain:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PYGB Gene

GeneLoc Exon Structure for
PYGB
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for PYGB Gene



Protein tissue co-expression partners for PYGB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PYGB Gene:

PYGB

SOURCE GeneReport for Unigene cluster for PYGB Gene:

Hs.368157
genes like me logo Genes that share expression patterns with PYGB: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PYGB 34
  • 96.65 (n)
oppossum
(Monodelphis domestica)
Mammalia PYGB 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PYGB 34 35
  • 89.92 (n)
cow
(Bos Taurus)
Mammalia PYGB 34 35
  • 89.68 (n)
mouse
(Mus musculus)
Mammalia Pygb 34 16 35
  • 88.61 (n)
rat
(Rattus norvegicus)
Mammalia Pygb 34
  • 88.53 (n)
chicken
(Gallus gallus)
Aves PYGB 34 35
  • 82.68 (n)
lizard
(Anolis carolinensis)
Reptilia PYGB 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pygm 34
  • 77.74 (n)
Str.6167 34
African clawed frog
(Xenopus laevis)
Amphibia pygm-prov 34
zebrafish
(Danio rerio)
Actinopterygii pygb 34 35
  • 76.63 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4316 34
fruit fly
(Drosophila melanogaster)
Insecta GlyP 36 35
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea T22F3.3 35
  • 64 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPH1 35
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 62 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4721 34
Species where no ortholog for PYGB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for PYGB Gene

Paralogs for PYGB Gene

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

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

Variants for PYGB Gene

Sequence variations from dbSNP and Humsavar for PYGB Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1049744 -- 25,297,728(+) TGGAT(C/T)TGGGC intron-variant, utr-variant-3-prime
rs10582106 -- 25,281,901(+) CTGTT(-/CTC)CTTAG intron-variant
rs1077889 -- 25,287,257(+) GACAC(A/G)AGGTC intron-variant
rs11087508 -- 25,256,149(+) GGGAG(A/G)AAAAA intron-variant
rs11087510 -- 25,271,099(+) GCAGT(-/G)GGGGG intron-variant

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)

Relevant External Links for PYGB Gene

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

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

Disorders for PYGB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, protection against
- elite association - COSMIC cancer census association via MalaCards
Search PYGB in MalaCards View complete list of genes associated with diseases

Relevant External Links for PYGB

Genetic Association Database (GAD)
PYGB
Human Genome Epidemiology (HuGE) Navigator
PYGB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PYGB
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. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  4. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J. … Lambert J.C. (Mol. Psychiatry 2009) 3 46 64
  5. Clinicopathological significance of BGP expression in non-small-cell lung carcinoma: relationship with histological type, microvessel density and patients' survival. (PMID: 17393985) Lee M.K. … Sol M.Y. (Pathology 2006) 3 22 64

Products for PYGB Gene

Sources for PYGB Gene

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