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PYGM Gene

protein-coding   GIFtS: 72
GCID: GC11M064513

Phosphorylase, Glycogen, Muscle

(Previous names: phosphorylase, glycogen; muscle)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphorylase, Glycogen, Muscle1 2     Muscle Form1
EC 2.4.1.13 8     Phosphorylase, Glycogen; Muscle1
Glycogen Phosphorylase1     Glycogen Phosphorylase, Muscle Form2
Glycogen Storage Disease Type V1     myophosphorylase2
McArdle Syndrome1     Myophosphorylase3

External Ids:    HGNC: 97261   Entrez Gene: 58372   Ensembl: ENSG000000689767   OMIM: 6084555   UniProtKB: P112173   

Export aliases for PYGM gene to outside databases

Previous GC identifers: GC11M067029 GC11M066195 GC11M064763 GC11M064289 GC11M064272 GC11M060840


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 myoglobinuria recurrent, and glycogen storage disease v. GO annotations related to this gene include glycogen phosphorylase activity and nucleotide binding. An important paralog of this gene is PYGL.

UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PYGM gene promoter:
         NF-1   Pax-5   GATA-2   YY1   AREB6   CREB   Ik-2   deltaCREB   Sox9   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PYGM promoter sequence
   Search Chromatin IP Primers for PYGM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PYGM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12-q13.2   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q12-q13.2

PYGM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PYGM gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064513:  view genomic region     (about GC identifiers)

Start:
64,513,861 bp from pter      End:
64,528,187 bp from pter
Size:
14,327 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217 (See protein sequence)
Recommended Name: Glycogen phosphorylase, muscle form  
Size: 842 amino acids; 97092 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A
1 PDB 3D structure from and Proteopedia for PYGM:
1Z8D (3D)    
Secondary accessions: A0AVK1 A6NDY6
Alternative splicing: 2 isoforms:  P11217-1   P11217-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PYGM: NX_P11217

Explore proteomics data for PYGM at MOPED

Post-translational modifications: 

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A1
  • Ubiquitination2 at Lys483
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PYGM (P11217) (see all 49)
     DLSEQIS  DTQVVLA  KQISVRG  TLYNRIK 


    See PYGM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001158188.1  NP_005600.1  

    ENSEMBL proteins: 
     ENSP00000366650   ENSP00000164139  
    Reactome Protein details: P11217

    PYGM Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for PYGM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PYG: Glycogen phosphorylases

    2 InterPro protein domains:
     IPR011833 Glycg_phsphrylas
     IPR000811 Glyco_trans_35

    Graphical View of Domain Structure for InterPro Entry P11217

    ProtoNet protein and cluster: P11217

    1 Blocks protein domain: IPB000811 Glycosyl transferase

    UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217
    Similarity: Belongs to the glycogen phosphorylase family


    PYGM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PYGM_HUMAN, P11217
    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
    Catalytic activity: ((1->4)-alpha-D-glucosyl)(n) + phosphate = ((1->4)-alpha-D-glucosyl)(n-1) + alpha-D-glucose
    1-phosphate
    Enzyme regulation: 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

         Genatlas biochemistry entry for PYGM:
    phosphorylase,glycogen catabolism,muscle

         Enzyme Number (IUBMB): EC 2.4.1.11 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0004645phosphorylase activity ----
    GO:0008184glycogen phosphorylase activity IEA--
    GO:0030170pyridoxal phosphate binding IEA--
         
    PYGM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PYGM:
     Wnt reporter downregulated 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PYGM
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PYGM

    miRNA
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    miRTarBase miRNAs that target PYGM:
    hsa-mir-335-5p (MIRT017225)

    Block miRNA regulation of human, mouse, rat PYGM using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate PYGM:
    hsa-miR-3173-3p hsa-miR-23b* hsa-miR-23a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PYGM

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    GenScript: all cDNA clones in your preferred vector (see all 2): PYGM (NM_005609)
    Sino Biological Human cDNA Clone for PYGM
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast2
    cytoskeleton2
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    plasma membrane2
    nucleus1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PYGM for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PYGM About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Glucuronidation
    Starch and sucrose metabolism0.41
    Glycogen metabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4Glucose metabolism
    Glucose metabolism0.44
    Glycogen breakdown (glycogenolysis)0.00
    5MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PYGM
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    3 GeneGo (Thomson Reuters) Pathways for PYGM
        Development Beta-adrenergic receptors signaling via cAMP
    Galactose metabolism
    Glycogen metabolism

    1 BioSystems Pathway for PYGM
        Glycogen Metabolism


    1 Reactome Pathway for PYGM
        Glycogen breakdown (glycogenolysis)


    3 Kegg Pathways  (Kegg details for PYGM):
        Starch and sucrose metabolism
    Metabolic pathways
    Insulin signaling pathway


    PYGM for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PYGM: 
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PYGM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PYGM (P112172, 3 ENSP000001641394) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3MINT-48500 I2D: score=2 
    PACSIN3Q9UKS63, ENSP000002988384I2D: score=2 STRING: ENSP00000298838
    S100A1P232973, ENSP000002921694I2D: score=2 STRING: ENSP00000292169
    INPP5KQ9BT403, ENSP000002547124I2D: score=1 STRING: ENSP00000254712
    TRIM63Q969Q13, ENSP000003633904I2D: score=2 STRING: ENSP00000363390
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process TAS9633816
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    PYGM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PYGM

    8 HMDB Compounds for PYGM    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Amylose4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)9005-82-7--
    Gluconolactone1,5-Gluconolactone (see all 35)90-80-2--
    Glucose 1-phosphateCori ester (see all 22)59-56-3--
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    Selected DrugBank Compounds for PYGM (see all 50)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor11052666 12217700 11228757 12460107 11508701
    (3,4,5-Trihydroxy-6-Hydroxymethyl-Tetrahydro-Pyran-2-Yl)-Phosphoramidic Acid Dimethyl Ester-- --target--17139284 17016423 10592235
    1-Deoxy-1-Acetylamino-Beta-D-Gluco-2-Heptulopyranosonamide-- --target--17139284 17016423 10592235
    1-Deoxy-1-Methoxycarbamido-Beta-D-Gluco-2-Heptulopyranosonamide-- --target--17139284 17016423 10592235
    1-Deoxy-1-Methoxycarbamido-Beta-D-Glucopyranose-- --target--17139284 17016423 10592235
    1-N-Acetyl-Beta-D-Glucosamine-- --target--17139284 17016423 10592235
    2,3-Dicarboxy-4-(2-Chloro-Phenyl)-1-Ethyl-5-Isopropoxycarbonyl-6-Methyl-Pyridinium-- --target--17139284 17016423 10592235
    2-(Beta-D-Glucopyranosyl)-5-Methyl-1,2,3-Benzimidazole-- --target--17139284 17016423 10592235
    2-(Beta-D-Glucopyranosyl)-5-Methyl-1,3,4-Oxadiazole-- --target--17139284 17016423 10592235
    2-Deoxy-Glucose-6-Phosphate-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for PYGM gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 84.7 109 9502427 (2), 19878922 (2), 8779956 (2), 8576226 (2) (see all 74)
    galactose-1-phosphate 52.3 2 2364636 (1), 16691548 (1)
    phosphocreatine 49.6 1 8457430 (1)
    lactate 43.9 10 2364636 (1), 16924035 (1), 12640006 (1), 8983689 (1) (see all 8)
    creatinine 39.2 4 10891977 (2), 10438462 (1), 10716777 (1)
    pyruvate 34.2 4 10438462 (1), 12223025 (1), 7998768 (1)
    glucose 30 15 8576226 (2), 8889763 (2), 12223025 (2), 9502427 (1) (see all 11)
    carnitine 28.5 3 19240776 (1), 10924019 (1)
    arginine 10.1 2 8845714 (1), 10590419 (1)
    caffeine 4.86 2 9688698 (1)



    PYGM for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PYGM gene (2 alternative transcripts): 
    NM_001164716.1  NM_005609.2  

    Unigene Cluster for PYGM:

    Phosphorylase, glycogen, muscle
    Hs.154084  [show with all ESTs]
    Unigene Representative Sequence: NM_005609
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483742 ENST00000377432 ENST00000164139(uc001oax.4 uc001oay.4)
    ENST00000462303 ENST00000460413
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    3 qRT-PCR Assays for microRNAs that regulate PYGM:
    hsa-miR-3173-3p hsa-miR-23b* hsa-miR-23a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PYGM (NM_005609)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PYGM
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PYGM
      QuantiTect SYBR Green Assays in human, mouse, rat PYGM
      QuantiFast Probe-based Assays in human, mouse, rat PYGM

    Additional mRNA sequence: 

    AF066859.1 AK056607.1 AK057547.1 AK299376.1 AK299461.1 AK314474.1 BC029305.1 BC126392.1 
    BC130514.1 M16013.1 X03031.1 

    12 DOTS entries:

    DT.95076615  DT.97801128  DT.417914  DT.120719837  DT.100782115  DT.97807894  DT.92421659  DT.100807061 
    DT.92421671  DT.120719831  DT.120719833  DT.120719835 

    Selected AceView cDNA sequences (see all 197):

    AF066859 H44484 F18914 F27406 BM987822 BQ187454 F16457 AJ573122 
    F18656 F30859 BI759873 F28742 AA348514 F31059 F34675 F25922 
    BU145226 AI675818 BI756229 BQ685577 AA100564 BM142683 AI810931 F29891 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PYGM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAGGGTGG
    PYGM Expression
    About this image


    PYGM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Heart (Cardiovascular System)
     
     Thyroid (Endocrine System)
     
     Esophagus (Gastrointestinal Tract)
    PYGM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PYGM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.154084
        Pathway & Disease-focused RT2 Profiler PCR Array including PYGM: 
              Glucose Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PYGM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PYGM gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pygm1 , 5 muscle glycogen phosphorylase1, 5 89.47(n)1
    97.03(a)1
      19 (4.53 cM)5
    193091  NM_011224.11  NP_035354.11 
     63843995 
    lizard
    (Anolis carolinensis)
    Reptilia PYGM6
    phosphorylase, glycogen, muscle
    83(a)
    1 ↔ 1
    GL344430.1(9771-35366)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004910511 glycogen phosphorylase, muscle form-like 74.73(n)
    86.05(a)
      100491051  XM_002935364.2  XP_002935410.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pygma1 phosphorylase, glycogen (muscle) A 76.11(n)
    85(a)
      553655  NM_001020628.1  NP_001018464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta GlyP1 , 3 carbohydrate metabolism phosphorylase3
    Glycogen phosphorylase1
    73(a)3
    71.79(n)1
    73.45(a)1
      333861  NM_164453.41  NP_722762.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T22F3.31 T22F3.3 67.62(n)
    69.46(a)
      178777  NM_071606.4  NP_504007.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPH1(YPR160W)4 Non-essential glycogen phosphorylase required for the more   --   16(861306-864014) 856289  NP_015486.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PHS21 PHS2 51.84(n)
    48.7(a)
      823850  NM_114564.2  NP_190281.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g08517001 Os01g0851700 52.4(n)
    49.74(a)
      4324810  NM_001051358.1  NP_001044823.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PYGM gene
    PYGL2  PYGB2  
    2 SIMAP similar genes for PYGM using alignment to 1 protein entry:     PYGM_HUMAN:
    PYGB    PYGL

    PYGM for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PYGM (see all 412)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1191032511,2,,4
    CGlycogen storage disease 5 (GSD5)4 pathogenic164444775(-) TCTACG/AGCCAT 4 /S /G mis11Minor allele frequency- A:0.00EU 1323
    VAR_0034344
    Glycogen storage disease 5 (GSD5)4--see VAR_0034342 E K mis40--------
    VAR_0140074
    Glycogen storage disease 5 (GSD5)4--see VAR_0140072 R W mis40--------
    VAR_0034324
    Glycogen storage disease 5 (GSD5)4--see VAR_0034322 L P mis40--------
    VAR_0140094
    Glycogen storage disease 5 (GSD5)4--see VAR_0140092 Q E mis40--------
    VAR_0140134
    Glycogen storage disease 5 (GSD5)4--see VAR_0140132 A V mis40--------
    VAR_0140114
    Glycogen storage disease 5 (GSD5)4--see VAR_0140112 G R mis40--------
    VAR_0140104
    Glycogen storage disease 5 (GSD5)4--see VAR_0140102 N Y mis40--------
    VAR_0140084
    Glycogen storage disease 5 (GSD5)4--see VAR_0140082 A D mis40--------
    VAR_0140124
    Glycogen storage disease 5 (GSD5)4--see VAR_0140122 A P mis40--------

    HapMap Linkage Disequilibrium report for PYGM (64513861 - 64528187 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for PYGM:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1261955CNV Insertion17803354
    nsv897701CNV Loss21882294
    dgv1172n71CNV Loss21882294
    nsv528506CNV Loss19592680
    nsv469962CNV Loss18288195
    nsv897694CNV Loss21882294
    nsv832189CNV Loss17160897
    dgv153n27CNV Loss19166990
    dgv1171n71CNV Loss21882294
    nsv818842CNV Gain17921354

    Human Gene Mutation Database (HGMD): PYGM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PYGM
    DNA2.0 Custom Variant and Variant Library Synthesis for PYGM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608455   
    OMIM disorders: 232600  
    UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217
  • Glycogen storage disease 5 (GSD5) [MIM:232600]: A metabolic disorder resulting in myopathy characterized
    by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for PYGM (see all 39):    
    About MalaCards
    myoglobinuria recurrent    glycogen storage disease v    oculopharyngeal muscular dystrophy    phosphoglycerate kinase deficiency
    best vitelliform macular dystrophy    muscle glycogenosis    glycogen storage disease    wermer syndrome
    acute insulin response    vitelliform macular dystrophy    gastrinoma    macular dystrophy
    gigantism    multiple endocrine neoplasia    gout    limb-girdle muscular dystrophy
    sudden infant death syndrome    pancreatic ductal adenocarcinoma    acromegaly    myopathy

    5 diseases from the University of Copenhagen DISEASES database for PYGM:
    Glycogen storage disease     Wermer syndrome     Diabetes mellitus     Myopathy
    Hyperglycemia

    PYGM for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PYGM gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mcardles disease 99.1 273 9506549 (5), 15045049 (5), 16924035 (4), 8845714 (4) (see all 99)
    phosphofructokinase deficiency 88.3 10 7998768 (2), 10809925 (1), 1834009 (1), 15938748 (1) (see all 6)
    myoglobinuria, recurrent 83.7 3 12666117 (1), 8316268 (1), 8845714 (1)
    myopathy 80.5 16 8467839 (1), 9470186 (1), 10658172 (1), 15626311 (1) (see all 16)
    glycogen storage disease 77.9 8 12522938 (1), 15626311 (1), 17876739 (1), 9847997 (1) (see all 8)
    multiple endocrine neoplasia type 1 67.3 5 9272177 (1), 9341881 (1), 7906100 (1), 9150722 (1)
    rhabdomyolysis 66.8 2 19240776 (1), 16718692 (1)
    enzyme deficiency 59.3 1 9847997 (1)
    mitochondrial myopathies 58.8 2 9541495 (1), 17143893 (1)
    cytochrome c oxidase deficiency 50.8 1 7998768 (1)

    GeneTests: PYGM
    GeneReviews: PYGM
    Genetic Association Database (GAD): PYGM
    Human Genome Epidemiology (HuGE) Navigator: PYGM (3 documents)

    Export disorders for PYGM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PYGM gene, integrated from 10 sources (see all 226):
    (articles sorted by number of sources associating them with PYGM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation analysis in myophosphorylase deficiency (McArdle's disease). (PubMed id 9506549)1, 2, 9 Vorgerd M....Kilimann M.W. (Ann. Neurol. 1998)
    2. Genotype modulators of clinical severity in McArdle disease. (PubMed id 17630210)1, 4, 9 Rubio J.C....Lucia A. (Neurosci. Lett. 2007)
    3. A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. (PubMed id 10590419)1, 2, 9 Rubio J.C....Arenas J. (Muscle Nerve 2000)
    4. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). (PubMed id 8316268)1, 2, 9 Tsujino S.... Dimauro S. (N. Engl. J. Med. 1993)
    5. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. (PubMed id 11706962)1, 2, 9 Martin M.A.... Arenas J. (Ann. Neurol. 2001)
    6. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). (PubMed id 7603523)1, 2, 9 Tsujino S.... DiMauro S. (Muscle Nerve 1995)
    7. Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). (PubMed id 8535454)1, 2, 9 Tsujino S....Dimauro S. (Hum. Mutat. 1995)
    8. Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. (PubMed id 21768215)1, 4 Tin A....KAPttgen A. (Hum. Mol. Genet. 2011)
    9. Genetic risk factors associated with lipid-lowering drug-induced myopathies. (PubMed id 16671104)1, 4 Vladutiu G.D....Phillips P.S. (amp 2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5837 HGNC: 9726 AceView: PYGM Ensembl:ENSG00000068976 euGenes: HUgn5837
    ECgene: PYGM Kegg: 5837 H-InvDB: PYGM

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PYGM Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PYGM[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PYGM gene:
    Search GeneIP for patents involving PYGM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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