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Aliases for PYGL Gene

Aliases for PYGL Gene

  • Phosphorylase, Glycogen, Liver 2 3 5
  • Glycogen Phosphorylase, Liver Form 2 3
  • EC 2.4.1.1 4 61
  • Glycogen Storage Disease Type VI 2
  • Phosphorylase, Glycogen; Liver 2
  • Hers Disease 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. Among its related pathways are Glucagon signaling pathway and Translation Insulin regulation of translation. GO annotations related to this gene include protein homodimerization activity and drug 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

Enhancers for PYGL 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around PYGL on UCSC Golden Path with GeneCards custom track

Promoters for PYGL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PYGL on UCSC Golden Path with GeneCards custom track

Genomic Location for PYGL Gene

Chromosome:
14
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

Genes around PYGL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYGL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for PYGL Gene

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
  • Ubiquitination at Lys 170, Lys 192, Lys 364, Lys 395, Lys 804, and Lys 811
  • Modification sites at PhosphoSitePlus

Other Protein References for PYGL Gene

Antibody Products

  • Abcam antibodies for PYGL

Domains & Families for PYGL Gene

Gene Families for PYGL Gene

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 :
  • Belongs to the glycogen phosphorylase family.
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:0005515 protein binding IEA,IPI 25416956
GO:0005524 ATP binding IDA 10949035
GO:0005536 glucose binding NAS 12204691
GO:0008144 drug binding IEA,IDA 10980448
genes like me logo Genes that share ontologies with PYGL: view
genes like me logo Genes that share phenotypes with PYGL: view

Human Phenotype Ontology for PYGL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PYGL

CRISPR Products

miRNA for PYGL Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 5
extracellular 5
plasma membrane 5
chloroplast 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,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 & Interactions for PYGL Gene

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

SIGNOR curated interactions for PYGL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005977 glycogen metabolic process IEA,IMP 10980448
GO:0005980 glycogen catabolic process IEA,TAS --
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process IEA --
GO:0042593 glucose homeostasis IMP 17705025
GO:0070266 necroptotic process IEA --
genes like me logo Genes that share ontologies with PYGL: view

Drugs & Compounds for PYGL Gene

(24) Drugs for PYGL Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra Target, activator 0
asparaginase Approved Pharma 216
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist 2001
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1496
Phosphoric acid Approved Pharma 0

(5) Additional Compounds for PYGL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
purine
  • 1H-Purine
  • 6H-Imidazo[4,5-D]pyrimidine
  • 7-Methyltheophylline
  • 7H-Imidazo(4,5-D)pyrimidine
  • 7H-Purine
120-73-0
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

Inhibitory RNA Products

Clone 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 (x23.3).

Protein differential expression in normal tissues from HIPED for PYGL Gene

This gene is overexpressed in Liver, secretome (25.0) and Retina (9.6).

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



Protein tissue co-expression partners for PYGL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PYGL Gene:

PYGL

SOURCE GeneReport for Unigene cluster for PYGL Gene:

Hs.282417
genes like me logo Genes that share expression patterns with PYGL: view

Primer 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
cow
(Bos Taurus)
Mammalia PYGL 34
  • 90.86 (n)
  • 93.26 (a)
PYGL 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PYGL 34
  • 91.61 (n)
  • 95.39 (a)
PYGL 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pygl 34
  • 88.78 (n)
  • 94.92 (a)
Pygl 16
Pygl 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PYGL 34
  • 99.65 (n)
  • 100 (a)
PYGL 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pygl 34
  • 88.51 (n)
  • 94.81 (a)
oppossum
(Monodelphis domestica)
Mammalia PYGL 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PYGL 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PYGL 34
  • 79.68 (n)
  • 87.5 (a)
PYGL 35
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PYGL 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pygl 34
  • 77.65 (n)
  • 86.49 (a)
zebrafish
(Danio rerio)
Actinopterygii pygl 35
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GlyP 36
  • 72 (a)
GlyP 35
  • 66 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T22F3.3 35
  • 60 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR547W 34
  • 55.67 (n)
  • 51.96 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10065g 34
  • 56.27 (n)
  • 52.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPH1 34
  • 55.7 (n)
  • 52.59 (a)
GPH1 35
  • 42 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G29320 34
  • 54.82 (n)
  • 48.56 (a)
soybean
(Glycine max)
eudicotyledons Gma.7010 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.321 34
rice
(Oryza sativa)
Liliopsida Os.11216 34
wheat
(Triticum aestivum)
Liliopsida Ta.1279 34
corn
(Zea mays)
Liliopsida Zm.13152 34
bread mold
(Neurospora crassa)
Ascomycetes NCU07027 34
  • 56.47 (n)
  • 52.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToMany
Species where no ortholog for PYGL was found in the sources mined by GeneCards:
  • 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

(2) 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
rs946616 - 50,921,064(-) AGGTG(A/G)TCCTG reference, missense
rs113993976 Glycogen storage disease 6 (GSD6) 50,916,718(-) GCTGA(A/G)TGACA reference, missense
rs113993977 Glycogen storage disease 6 (GSD6) 50,915,933(-) ACCAA(C/G)CACAC reference, missense
rs1042195 - 50,921,036(-) CCCCG(A/T)GCCCG reference, missense
rs1042210 - 50,909,927(-) ATGAG(C/G)ATAGA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1083n106 CNV deletion 24896259
dgv637e212 CNV loss 25503493
esv2748710 CNV deletion 23290073
esv3245718 CNV deletion 24192839
esv33577 CNV gain 17666407
esv3551546 CNV deletion 23714750
esv3581193 CNV loss 25503493
esv3634494 CNV loss 21293372
esv3892542 CNV loss 25118596
esv4830 CNV loss 18987735
esv7846 CNV loss 19470904
nsv820614 CNV deletion 20802225
nsv826950 CNV gain+loss 20364138
nsv826951 CNV gain 20364138
nsv832794 CNV gain 17160897
nsv952837 CNV duplication 24416366

Variation tolerance for PYGL Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PYGL Gene

Human Gene Mutation Database (HGMD)
PYGL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PYGL

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

Disorders for PYGL Gene

MalaCards: The human disease database

(5) MalaCards diseases for PYGL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease vi
  • glycogen storage disease type vi
glycogen storage disease
  • glycogenoses
glycogen storage disease ix
glycogen storage disease iiia
  • glycogen storage disease iiib
glycogen storage disease ia
  • glycogen storage disease i
- elite association - COSMIC cancer census association via MalaCards
Search PYGL in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PYGL

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

No data available for Genatlas for PYGL Gene

Publications for PYGL Gene

  1. 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 22 46 65
  2. 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 22 65
  3. 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 22 65
  4. Human liver glycogen phosphorylase inhibitors bind at a new allosteric site. (PMID: 10980448) Rath V.L. … Hoover D.J. (Chem. Biol. 2000) 3 4 22 65
  5. 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 22 65

Products for PYGL Gene

Sources for PYGL Gene

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