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Aliases for PYGL Gene

Aliases for PYGL Gene

  • Phosphorylase, Glycogen, Liver 2 3
  • EC 2.4.1.1 4 63
  • Glycogen Phosphorylase, Liver Form 3
  • Glycogen Storage Disease Type VI 2
  • Phosphorylase, Glycogen; Liver 2
  • Glycogen Phosphorylase 2
  • Hers Disease 2
  • Liver Form 2
  • GSD6 3

External Ids for PYGL Gene

Previous GeneCards Identifiers for PYGL Gene

  • GC14M048693
  • GC14M045167
  • GC14M049361
  • GC14M050441
  • GC14M051371
  • GC14M031497
  • GC14M051324

Summaries for PYGL Gene

Entrez Gene Summary for PYGL Gene

  • This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

GeneCards Summary for PYGL Gene

PYGL (Phosphorylase, Glycogen, Liver) is a Protein Coding gene. Diseases associated with PYGL include glycogen storage disease vi and glycogen storage disease due to liver glycogen phosphorylase deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include protein homodimerization activity and pyridoxal phosphate binding. An important paralog of this gene is PYGB.

UniProtKB/Swiss-Prot for PYGL 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 PYGL Gene

Genomics for PYGL Gene

Regulatory Elements for PYGL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PYGL Gene

Start:
50,857,891 bp from pter
End:
50,944,736 bp from pter
Size:
86,846 bases
Orientation:
Minus strand

Genomic View for PYGL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PYGL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PYGL Gene

Proteins for PYGL Gene

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

    Protein Symbol:
    P06737-PYGL_HUMAN
    Recommended name:
    Glycogen phosphorylase, liver form
    Protein Accession:
    P06737
    Secondary Accessions:
    • A6NDQ4
    • B4DUB7
    • F5H816
    • O60567
    • O60752
    • O60913
    • Q501V9
    • Q641R5
    • Q96G82

    Protein attributes for PYGL Gene

    Size:
    847 amino acids
    Molecular mass:
    97149 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. Interacts with PPP1R3B (By similarity).

    Three dimensional structures from OCA and Proteopedia for PYGL Gene

    Alternative splice isoforms for PYGL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PYGL Gene

Proteomics data for PYGL Gene at MOPED

Post-translational modifications for PYGL Gene

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
  • Ubiquitination at Lys170, Lys192, Lys364, Lys395, Lys483, Lys804, and Lys811
  • Modification sites at PhosphoSitePlus

Other Protein References for PYGL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PYGL Gene

Gene Families for PYGL Gene

HGNC:
  • PYG :Glycogen phosphorylases

Protein Domains for PYGL Gene

Suggested Antigen Peptide Sequences for PYGL Gene

Graphical View of Domain Structure for InterPro Entry

P06737

UniProtKB/Swiss-Prot:

PYGL_HUMAN :
  • P06737
Family:
  • Belongs to the glycogen phosphorylase family.
genes like me logo Genes that share domains with PYGL: view

Function for PYGL Gene

Molecular function for PYGL Gene

GENATLAS Biochemistry: phosphorylase,glycogen catabolism,liver
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 noncovalent 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 PYGL Gene

Gene Ontology (GO) - Molecular Function for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002060 purine nucleobase binding IDA 12204691
GO:0004645 phosphorylase activity --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IDA 10949035
GO:0005536 glucose binding NAS 12204691
genes like me logo Genes that share ontologies with PYGL: view

Phenotypes for PYGL Gene

genes like me logo Genes that share phenotypes with PYGL: view

Animal Model Products

CRISPR Products

miRNA for PYGL Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PYGL

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PYGL Gene

Localization for PYGL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PYGL Gene COMPARTMENTS Subcellular localization image for PYGL gene
Compartment Confidence
cytosol 4
plasma membrane 4
chloroplast 2
cytoskeleton 2
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
nucleus 2
vacuole 1

Gene Ontology (GO) - Cellular Components for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with PYGL: view

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

Pathways for PYGL Gene

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

Pathways by source for PYGL Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0005977 glycogen metabolic process IMP 10980448
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process IEA --
genes like me logo Genes that share ontologies with PYGL: view

Compounds for PYGL Gene

(10) HMDB Compounds for PYGL Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Amylose
  • 4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose
9005-82-7
Gluconolactone
  • 1,5-Gluconolactone
90-80-2
Glucose 1-phosphate
  • Cori ester
59-56-3
Glucose 6-phosphate
  • D(+)-Glucopyranose 6-phosphate
56-73-5

(3) Novoseek inferred chemical compound relationships for PYGL Gene

Compound -log(P) Hits PubMed IDs
glycogen 82.7 51
thiocyanate 51.2 1
glucose 40.6 8
genes like me logo Genes that share compounds with PYGL: view

Transcripts for PYGL Gene

Unigene Clusters for PYGL Gene

Phosphorylase, glycogen, liver:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PYGL

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PYGL Gene

GeneLoc Exon Structure for
PYGL
ECgene alternative splicing isoforms for
PYGL

Expression for PYGL Gene

mRNA expression in normal human tissues for PYGL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PYGL Gene

This gene is overexpressed in Whole Blood (23.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PYGL Gene

SOURCE GeneReport for Unigene cluster for PYGL Gene Hs.282417

genes like me logo Genes that share expressions with PYGL: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PYGL Gene

Orthologs for PYGL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PYGL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PYGL 35
  • 99.65 (n)
  • 100 (a)
PYGL 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PYGL 35
  • 90.86 (n)
  • 93.26 (a)
PYGL 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PYGL 35
  • 91.61 (n)
  • 95.39 (a)
PYGL 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pygl 35
  • 88.78 (n)
  • 94.92 (a)
Pygl 16
Pygl 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PYGL 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PYGL 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pygl 35
  • 88.51 (n)
  • 94.81 (a)
chicken
(Gallus gallus)
Aves PYGL 35
  • 79.68 (n)
  • 87.5 (a)
PYGL 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PYGL 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pygl 35
  • 77.65 (n)
  • 86.49 (a)
zebrafish
(Danio rerio)
Actinopterygii pygl 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GlyP 36
  • 66 (a)
OneToMany
GlyP 37
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea T22F3.3 36
  • 60 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR547W 35
  • 55.67 (n)
  • 51.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPH1 35
  • 55.7 (n)
  • 52.59 (a)
GPH1 36
  • 42 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10065g 35
  • 56.27 (n)
  • 52.33 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.321 35
soybean
(Glycine max)
eudicotyledons Gma.7010 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G29320 35
  • 54.82 (n)
  • 48.56 (a)
corn
(Zea mays)
Liliopsida Zm.13152 35
rice
(Oryza sativa)
Liliopsida Os.11216 35
wheat
(Triticum aestivum)
Liliopsida Ta.1279 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07027 35
  • 56.47 (n)
  • 52.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
Species with no ortholog for PYGL:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PYGL Gene

ENSEMBL:
Gene Tree for PYGL (if available)
TreeFam:
Gene Tree for PYGL (if available)

Paralogs for PYGL Gene

Paralogs for PYGL Gene

Selected SIMAP similar genes for PYGL Gene using alignment to 3 proteins:

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

Variants for PYGL Gene

Sequence variations from dbSNP and Humsavar for PYGL Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs15669 -- 50,910,056(-) GGCAC(C/T)GAAGC reference, synonymous-codon
rs882860 -- 50,936,785(-) GAGAC(A/G)GAGTC intron-variant
rs883699 -- 50,936,043(+) GGCAC(C/T)CATGA intron-variant
rs946616 - 50,921,064(-) AGGTG(A/G)TCCTG missense, reference
rs946617 -- 50,920,872(-) GAAAC(A/C)AACAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832794 CNV Gain 17160897
nsv901938 CNV Loss 21882294
esv4830 CNV Deletion 18987735
esv2748710 CNV Deletion 23290073
nsv826950 CNV Gain+Loss 20364138
nsv820614 CNV Deletion 20802225
nsv826951 CNV Gain 20364138
esv7846 CNV Loss 19470904
esv33577 CNV Gain 17666407

Relevant External Links for PYGL Gene

HapMap Linkage Disequilibrium report
PYGL
Human Gene Mutation Database (HGMD)
PYGL

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

Disorders for PYGL Gene

(1) OMIM Diseases for PYGL Gene (613741)

UniProtKB/Swiss-Prot

PYGL_HUMAN
  • Glycogen storage disease 6 (GSD6) [MIM:232700]: A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. {ECO:0000269 PubMed:9529348}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for PYGL Gene

(2) Novoseek inferred disease relationships for PYGL Gene

Disease -log(P) Hits PubMed IDs
glycogen storage disease type vi 95 2
hepatomegaly 49.1 1

Relevant External Links for PYGL

GeneTests
PYGL
GeneReviews
PYGL
Genetic Association Database (GAD)
PYGL
Human Genome Epidemiology (HuGE) Navigator
PYGL
genes like me logo Genes that share disorders with PYGL: view

Publications for PYGL Gene

  1. Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core. (PMID: 10949035) Rath V.L. … Pandit J. (Mol. Cell 2000) 3 4 23
  2. Human liver glycogen phosphorylase inhibitors bind at a new allosteric site. (PMID: 10980448) Rath V.L. … Hoover D.J. (Chem. Biol. 2000) 3 4 23
  3. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. (PMID: 9536091) Chang S. … Biesecker L.G. (Hum. Mol. Genet. 1998) 3 4 23
  4. Structure-activity analysis of the purine binding site of human liver glycogen phosphorylase. (PMID: 12204691) Ekstrom J.L. … Rath V.L. (Chem. Biol. 2002) 3 4 23
  5. Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL). (PMID: 15223230) Tomihira M. … Nunoi K. (Diabetes Res. Clin. Pract. 2004) 3 23 48

Products for PYGL Gene

Sources for PYGL Gene

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