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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 Phosphorylase, Muscle Form 3
  • 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 muscle glycogenosis. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include nucleotide binding and glycogen 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

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.
  • Ubiquitination at Lys483
  • Modification sites at PhosphoSitePlus

Other Protein References for PYGM Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for PYGM Gene

Gene Families for PYGM Gene

HGNC:
  • PYG :Glycogen phosphorylases

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 :
  • P11217
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:0000166 nucleotide binding IEA --
GO:0004645 phosphorylase activity --
GO:0005515 protein binding IPI 25416956
GO:0008184 glycogen phosphorylase activity IEA --
GO:0030170 pyridoxal phosphate binding IBA --
genes like me logo Genes that share ontologies with PYGM: view

Phenotypes for PYGM Gene

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

Animal Model Products

CRISPR 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 Targeting 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
cytosol 4
chloroplast 2
cytoskeleton 2
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
plasma membrane 2
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: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 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:0005975 carbohydrate metabolic process TAS --
GO:0005977 glycogen metabolic process TAS 9633816
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PYGM: view

Compounds for PYGM Gene

(8) HMDB Compounds for PYGM 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

(13) Novoseek inferred chemical compound relationships for PYGM Gene

Compound -log(P) Hits PubMed IDs
glycogen 84.7 85
galactose-1-phosphate 52.3 2
phosphocreatine 49.6 1
lactate 43.9 8
creatinine 39.2 4
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs 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 (44.6).

Integrated Proteomics: protein expression 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 expressions with PYGM: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia PYGM 35
  • 99.6 (n)
  • 99.6 (a)
PYGM 36
  • 98 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia PYGM 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PYGM 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pygm 35
  • 89.03 (n)
  • 96.79 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007939 35
  • 69.28 (n)
  • 73.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta GlyP 35
  • 71.79 (n)
  • 73.45 (a)
GlyP 36
  • 72 (a)
OneToMany
GlyP 37
  • 73 (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

Selected 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

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

(1) OMIM Diseases for PYGM Gene (608455)

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.

(5) University of Copenhagen DISEASES for PYGM Gene

(23) Novoseek inferred disease relationships for PYGM Gene

Disease -log(P) Hits PubMed IDs
mcardles disease 99.1 157
phosphofructokinase deficiency 88.3 7
myoglobinuria, recurrent 83.7 3
myopathy 80.5 16
glycogen storage disease 77.9 8

Relevant External Links for PYGM

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

Publications for PYGM Gene

  1. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). (PMID: 7603523) Tsujino S. … DiMauro S. (Muscle Nerve 1995) 3 4 23
  2. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). (PMID: 8316268) Tsujino S. … Dimauro S. (N. Engl. J. Med. 1993) 3 4 23
  3. Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). (PMID: 8535454) Tsujino S. … Dimauro S. (Hum. Mutat. 1995) 3 4 23
  4. Mutation analysis in myophosphorylase deficiency (McArdle's disease). (PMID: 9506549) Vorgerd M. … Kilimann M.W. (Ann. Neurol. 1998) 3 4 23
  5. A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. (PMID: 10590419) Rubio J.C. … Arenas J. (Muscle Nerve 2000) 3 4 23

Products for PYGM Gene

Sources for PYGM Gene

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