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Aliases for PYGM Gene

Aliases for PYGM Gene

  • Phosphorylase, Glycogen, Muscle 2 3
  • Myophosphorylase 3 4
  • EC 2.4.1.1 4 63
  • Glycogen Storage Disease Type V 2
  • Phosphorylase, Glycogen; Muscle 2
  • Glycogen Phosphorylase 2
  • McArdle Syndrome 2
  • Muscle Form 2

External Ids for PYGM Gene

Previous GeneCards Identifiers for PYGM Gene

  • GC11M067029
  • GC11M066195
  • GC11M064289
  • GC11M064272
  • GC11M064513
  • GC11M060840

Summaries for PYGM Gene

Entrez Gene Summary for PYGM Gene

  • This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

GeneCards Summary for PYGM Gene

PYGM (Phosphorylase, Glycogen, Muscle) is a Protein Coding gene. Diseases associated with PYGM include mcardle disease and glycogen storage disease due to muscle glycogen phosphorylase deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Metabolism. GO annotations related to this gene include nucleotide binding and phosphorylase activity. An important paralog of this gene is PYGL.

UniProtKB/Swiss-Prot for PYGM 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 PYGM Gene

Genomics for PYGM Gene

Regulatory Elements for PYGM Gene

Genomic Location for PYGM Gene

Chromosome:
11
Start:
64,746,389 bp from pter
End:
64,760,715 bp from pter
Size:
14,327 bases
Orientation:
Minus strand

Genomic View for PYGM Gene

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

RefSeq DNA sequence for PYGM Gene

Proteins for PYGM Gene

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

    Protein Symbol:
    P11217-PYGM_HUMAN
    Recommended name:
    Glycogen phosphorylase, muscle form
    Protein Accession:
    P11217
    Secondary Accessions:
    • A0AVK1
    • A6NDY6

    Protein attributes for PYGM Gene

    Size:
    842 amino acids
    Molecular mass:
    97092 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 PYGM Gene

    Alternative splice isoforms for PYGM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PYGM Gene

Proteomics data for PYGM Gene at MOPED

Post-translational modifications for PYGM Gene

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PYGM Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for PYGM Gene

Gene Families for PYGM Gene

Protein Domains for PYGM Gene

Suggested Antigen Peptide Sequences for PYGM Gene

Graphical View of Domain Structure for InterPro Entry

P11217

UniProtKB/Swiss-Prot:

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

Function for PYGM Gene

Molecular function for PYGM Gene

GENATLAS Biochemistry:
phosphorylase,glycogen catabolism,muscle
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 PYGM Gene

Gene Ontology (GO) - Molecular Function for PYGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004645 phosphorylase activity --
GO:0005515 protein binding IPI 25416956
GO:0008144 drug binding IEA --
GO:0008184 glycogen phosphorylase activity IEA --
GO:0016208 AMP binding IEA --
genes like me logo Genes that share ontologies with PYGM: view

Phenotypes for PYGM Gene

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

Animal Model Products

miRNA for PYGM Gene

miRTarBase miRNAs that target PYGM

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PYGM Gene

Localization for PYGM Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PYGM Gene COMPARTMENTS Subcellular localization image for PYGM gene
Compartment Confidence
extracellular 5
cytosol 4
chloroplast 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 2
plasma membrane 2
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PYGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0016529 sarcoplasmic reticulum IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with PYGM: view

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

Pathways & Interactions for PYGM Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PYGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0005977 glycogen metabolic process TAS 9633816
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
genes like me logo Genes that share ontologies with PYGM: view

No data available for SIGNOR curated interactions for PYGM Gene

Drugs & Compounds for PYGM Gene

(61) Drugs for PYGM Gene - From: NovoSeek, HMDB, DrugBank, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Caffeine Approved Nutra Activator 317
Glucose 1-phosphate Experimental Pharma Target 0
Inosinic acid Experimental Pharma Target 0
({[(3E)-2'-OXO-2',7'-DIHYDRO-2,3'-BIINDOL-3(7H)-YLIDENE]AMINO}OXY)ACETIC ACID Experimental Pharma Target 0

(9) Additional Compounds for PYGM Gene - From: NovoSeek and HMDB

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
Creatinine
  • 1-Methylglycocyamidine
  • 1-Methylhydantoin-2-imide
  • 2-Amino-1-methyl-1,5-dihydroimidazol-4-one
  • 2-Amino-1-methylimidazolin-4-one
  • Creatine anhydride
60-27-5
galactose-1-phosphate
genes like me logo Genes that share compounds with PYGM: view

Transcripts for PYGM Gene

Unigene Clusters for PYGM Gene

Phosphorylase, glycogen, muscle:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

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

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PYGM Gene

GeneLoc Exon Structure for
PYGM
ECgene alternative splicing isoforms for
PYGM

Expression for PYGM Gene

mRNA expression in normal human tissues for PYGM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x44.6).

Protein differential expression in normal tissues from HIPED for PYGM Gene

This gene is overexpressed in Blymphocyte (33.9), Tlymphocyte (18.4), and Neutrophil (10.1).

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



SOURCE GeneReport for Unigene cluster for PYGM Gene Hs.154084

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

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PYGM Gene

Orthologs for PYGM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PYGM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PYGM 35
  • 91.96 (n)
  • 95.84 (a)
PYGM 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PYGM 35
  • 91.21 (n)
  • 97.51 (a)
PYGM 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pygm 35
  • 89.47 (n)
  • 97.03 (a)
Pygm 16
Pygm 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PYGM 35
  • 99.6 (n)
  • 99.6 (a)
PYGM 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pygm 35
  • 89.03 (n)
  • 96.79 (a)
oppossum
(Monodelphis domestica)
Mammalia PYGM 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PYGM 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PYGM 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491051 35
  • 74.73 (n)
  • 86.05 (a)
zebrafish
(Danio rerio)
Actinopterygii pygma 35
  • 76.11 (n)
  • 85 (a)
pygma 36
  • 85 (a)
OneToMany
pygmb 36
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta GlyP 37
  • 73 (a)
GlyP 35
  • 71.79 (n)
  • 73.45 (a)
GlyP 36
  • 72 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007939 35
  • 69.28 (n)
  • 73.13 (a)
worm
(Caenorhabditis elegans)
Secernentea T22F3.3 35
  • 67.62 (n)
  • 69.46 (a)
T22F3.3 36
  • 65 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPH1 36
  • 44 (a)
OneToMany
GPH1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PHS2 35
  • 51.84 (n)
  • 48.7 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4591 35
rice
(Oryza sativa)
Liliopsida Os01g0851700 35
  • 52.4 (n)
  • 49.74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToMany
Species with no ortholog for PYGM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PYGM Gene

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

Paralogs for PYGM Gene

Paralogs for PYGM Gene

(2) SIMAP similar genes for PYGM Gene using alignment to 1 proteins:

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

Variants for PYGM Gene

Sequence variations from dbSNP and Humsavar for PYGM Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs474006 -- 64,749,854(+) gtggc(A/G)cgatc intron-variant
rs477549 -- 64,759,608(-) CTGCC(A/G)GGGAG intron-variant
rs483962 -- 64,760,279(-) GCCAC(C/T)GACAG utr-variant-5-prime
rs489192 -- 64,758,172(-) TCTGG(A/C)AAGGT intron-variant
rs490980 -- 64,757,992(+) GGGGC(C/T)GTGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897694 CNV Loss 21882294
nsv818842 CNV Gain 17921354
nsv528506 CNV Loss 19592680
dgv1171n71 CNV Loss 21882294
dgv1172n71 CNV Loss 21882294
dgv153n27 CNV Loss 19166990
nsv832189 CNV Loss 17160897
nsv897701 CNV Loss 21882294
esv1261955 CNV Insertion 17803354
nsv469962 CNV Loss 18288195

Variation tolerance for PYGM Gene

Residual Variation Intolerance Score: 57.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PYGM Gene

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

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

Disorders for PYGM Gene

MalaCards: The human disease database

(17) MalaCards diseases for PYGM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
mcardle disease
  • glycogen storage disease v
glycogen storage disease due to muscle glycogen phosphorylase deficiency
  • mcardle disease
muscle glycogenosis
  • muscle phosphorylase kinase deficiency
cutaneous adenocystic carcinoma
  • adenoid cystic carcinoma of the skin
glycogen storage disease vii
  • muscle phosphofructokinase deficiency
- elite association
Search PYGM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PYGM_HUMAN
  • Glycogen storage disease 5 (GSD5) [MIM:232600]: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. {ECO:0000269 PubMed:10382911, ECO:0000269 PubMed:10382912, ECO:0000269 PubMed:10417800, ECO:0000269 PubMed:10590419, ECO:0000269 PubMed:10681080, ECO:0000269 PubMed:10714589, ECO:0000269 PubMed:10899452, ECO:0000269 PubMed:11706962, ECO:0000269 PubMed:12031624, ECO:0000269 PubMed:7603523, ECO:0000269 PubMed:8316268, ECO:0000269 PubMed:8535454, ECO:0000269 PubMed:9506549}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PYGM

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

No data available for Genatlas for PYGM Gene

Publications for PYGM Gene

  1. [Rhabdomyolysis due to muscle enzyme deficiencies]. (PMID: 19240776) Toledo Rojas R. … Frutos Sanz M.A. (Nefrologia 2009) 23 67
  2. Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. (PMID: 19251976) GarcA-a-Consuegra I. … Martin M.A. (J. Med. Genet. 2009) 23 67
  3. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. (PMID: 19433441) Vissing J. … Haller R.G. (Brain 2009) 23 67
  4. High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease. (PMID: 19472443) Duno M. … Schwartz M. (Ann. Hum. Genet. 2009) 23 67
  5. [McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. (PMID: 19878922) Amezyane T. … Ohayon V. (Ann. Endocrinol. (Paris) 2009) 23 67

Products for PYGM Gene

Sources for PYGM Gene

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