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PYGL Gene(Protein Coding)

Phosphorylase, Glycogen, Liver

GCID:
GC14M050857
GIFtS:
70
Genes Participants
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Aliases for PYGL Gene

Aliases for PYGL Gene

  • Phosphorylase, Glycogen, Liver 2 3 5
  • EC 2.4.1.1 4 63
  • 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 Glycosaminoglycan metabolism and Glucagon signaling pathway. 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

Products:

  1. Regulatory Element

Regulatory Elements for PYGL Gene

Enhancers for PYGL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Transcription factor binding sites by QIAGEN in the PYGL gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for PYGL Gene

Proteins for PYGL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for PYGL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PYGL Gene

P06737:

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PYGL

Domains & Families for PYGL Gene

Gene Families for PYGL Gene

HGNC:

Protein Domains for PYGL Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PYGL Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 IEA --
GO:0005515 protein binding IEA,IPI 25416956
GO:0005536 glucose binding NAS 12204691
GO:0016208 AMP binding IDA 10949035
genes like me logo Genes that share ontologies with PYGL: view

Phenotypes for PYGL Gene

GenomeRNAi human phenotypes for PYGL:
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

miRNA for PYGL Gene

miRTarBase miRNAs that target PYGL

Inhibitory RNA 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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:0006015 5-phosphoribose 1-diphosphate biosynthetic process IEA --
genes like me logo Genes that share ontologies with PYGL: view

Drugs & Compounds for PYGL Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra Target, activator 0
Asparaginase Approved Pharma 212
Dexamethasone Approved, Investigational Pharma Agonist 1950
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR, Cytotoxic agent 1466
Riboflavin Approved Nutra 150

(7) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
 7664-38-2
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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PYGL Gene

(2) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(244) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PYGL Gene

Phosphorylase, glycogen, liver:
Representative Sequences:

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues for PYGL Gene

mRNA expression in normal human tissues for PYGL Gene
mRNA expression by BioGPS for PYGL GenemRNA expression by GTEx 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, MOPED, and MaxQB for PYGL Gene



SOURCE GeneReport for Unigene cluster for PYGL Gene Hs.282417

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

Protein tissue co-expression partners for PYGL Gene

- Elite partner

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 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
chimpanzee
(Pan troglodytes)
 Mammalia PYGL 35
  • 99.65 (n)
  • 100 (a)
PYGL 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Pygl 35
  • 88.51 (n)
  • 94.81 (a)
oppossum
(Monodelphis domestica)
 Mammalia PYGL 36
  • 90 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PYGL 36
  • 89 (a)
 OneToOne
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 37
  • 72 (a)
GlyP 36
  • 66 (a)
 OneToMany
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)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F10065g 35
  • 56.27 (n)
  • 52.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GPH1 35
  • 55.7 (n)
  • 52.59 (a)
GPH1 36
  • 42 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT3G29320 35
  • 54.82 (n)
  • 48.56 (a)
soybean
(Glycine max)
 eudicotyledons Gma.7010 35
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.321 35
rice
(Oryza sativa)
 Liliopsida Os.11216 35
wheat
(Triticum aestivum)
 Liliopsida Ta.1279 35
corn
(Zea mays)
 Liliopsida Zm.13152 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

(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
VAR_007908 Glycogen storage disease 6 (GSD6)
VAR_007909 Glycogen storage disease 6 (GSD6)
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
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

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

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

Disorders for PYGL Gene

MalaCards: The human disease database

(10) 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 due to liver glycogen phosphorylase deficiency
  • glycogen storage disease type vi
glycogen storage disease
  • glycogenoses
glycogen storage disease ix
cutaneous adenocystic carcinoma
  • adenoid cystic carcinoma of the skin
- 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. Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage. (PMID: 2877458) Newgard C.B. … Fletterick R.J. (Proc. Natl. Acad. Sci. U.S.A. 1986) 2 3 4 67
  2. High frequency of missense mutations in glycogen storage disease type VI. (PMID: 17705025) Beauchamp N.J. … Sharrard M.J. (J. Inherit. Metab. Dis. 2007) 3 23 25
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  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

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