Human Gene PYGM (ENST00000164139.4_7) from GENCODE V47lift37
  Description: glycogen phosphorylase, muscle associated, transcript variant 1 (from RefSeq NM_005609.4)
Gencode Transcript: ENST00000164139.4_7
Gencode Gene: ENSG00000068976.14_9
Transcript (Including UTRs)
   Position: hg19 chr11:64,513,870-64,527,446 Size: 13,577 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr11:64,514,131-64,527,370 Size: 13,240 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:64,513,870-64,527,446)mRNA (may differ from genome)Protein (842 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PYGM_HUMAN
DESCRIPTION: RecName: Full=Glycogen phosphorylase, muscle form; EC=2.4.1.1; AltName: Full=Myophosphorylase;
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.
COFACTOR: Pyridoxal 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.
SUBUNIT: Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A.
PTM: Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
DISEASE: Defects in PYGM are the cause of glycogen storage disease type 5 (GSD5) [MIM:232600]; also known as McArdle disease. GSD5 is a metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.
SIMILARITY: Belongs to the glycogen phosphorylase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PYGM";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PYGM
Diseases sorted by gene-association score: mcardle disease* (1702), glycogen storage disease (41), myoglobinuria (17), glycogen storage disease vii (15), myoglobinuria recurrent (12), glycogen storage disease ii (11), multiple endocrine neoplasia 1 (11), glycogen storage disease vi (9), muscle glycogenosis (9), phosphoglycerate kinase deficiency (9), carbohydrate metabolic disorder (8), best vitelliform macular dystrophy (8), oculopharyngeal muscular dystrophy (8), acute insulin response (7), pancreatic gastrinoma (7), myopathy (4), mitochondrial complex iv deficiency (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1117.08 RPKM in Muscle - Skeletal
Total median expression: 1449.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.5076-0.336 Picture PostScript Text
3' UTR -80.20261-0.307 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011833 - Glycg_phsphrylas
IPR000811 - Glyco_trans_35

Pfam Domains:
PF00343 - Carbohydrate phosphorylase

SCOP Domains:
53756 - UDP-Glycosyltransferase/glycogen phosphorylase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Z8D - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P11217
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004645 phosphorylase activity
GO:0005515 protein binding
GO:0008184 glycogen phosphorylase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0030170 pyridoxal phosphate binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005980 glycogen catabolic process
GO:0008152 metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK057547 - Homo sapiens cDNA FLJ32985 fis, clone THYMU1000025, moderately similar to GLYCOGEN PHOSPHORYLASE, MUSCLE FORM (EC 2.4.1.1).
X03031 - Human mRNA 3'-fragment for glycogen phosphorylase (aa 673-840).
AK299376 - Homo sapiens cDNA FLJ55360 complete cds, highly similar to Glycogen phosphorylase, muscle form (EC 2.4.1.1).
AK056607 - Homo sapiens cDNA FLJ32045 fis, clone NTONG2001014, highly similar to Glycogen phosphorylase, muscle form (EC 2.4.1.1).
AK299461 - Homo sapiens cDNA FLJ53513 complete cds, highly similar to Glycogen phosphorylase, muscle form (EC 2.4.1.1).
BC126392 - Homo sapiens phosphorylase, glycogen, muscle, mRNA (cDNA clone MGC:161670 IMAGE:8992108), complete cds.
BC130514 - Homo sapiens phosphorylase, glycogen, muscle, mRNA (cDNA clone MGC:163386 IMAGE:40146545), complete cds.
JD383654 - Sequence 364678 from Patent EP1572962.
JD120382 - Sequence 101406 from Patent EP1572962.
JD269844 - Sequence 250868 from Patent EP1572962.
AF066859 - Homo sapiens muscle glycogen phosphorylase (PYGM) mRNA, complete cds.
AK314474 - Homo sapiens cDNA, FLJ95279, highly similar to Homo sapiens phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) (PYGM), mRNA.
HQ258678 - Synthetic construct Homo sapiens clone IMAGE:100072708 phosphorylase, glycogen, muscle (PYGM) gene, encodes complete protein.
M16013 - Human muscle glycogen phosphorylase mRNA.
BC029305 - Homo sapiens phosphorylase, glycogen, muscle, mRNA (cDNA clone IMAGE:5173793).
JD156159 - Sequence 137183 from Patent EP1572962.
JD516603 - Sequence 497627 from Patent EP1572962.
JD464042 - Sequence 445066 from Patent EP1572962.
JD337945 - Sequence 318969 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5941 - glycogenolysis

Reactome (by CSHL, EBI, and GO)

Protein P11217 (Reactome details) participates in the following event(s):

R-HSA-71541 glycogen phosphorylase (PYGM) dimer b + 2 ATP => glycogen phosphorylase (PYGM) dimer a + 2 ADP
R-HSA-453342 PGYM dimer, b form + 2 AMP <=> PGYM b dimer:AMP complex
R-HSA-453338 PGYM b dimer:AMP complex <=> PGYM dimer, b form + 2 AMP
R-HSA-71515 glycogen-glycogenin-1 + n orthophosphate => limit dextrin-glycogenin-1 + n D-glucose 1-phosphate [PYGM,PYGB]
R-HSA-453358 poly((1,4)-alpha-glycosyl) glycogenin-1 + n orthophosphate => glycogenin-1 + n D-glucose 1-phosphate [PYGM,PYGB]
R-HSA-70221 Glycogen breakdown (glycogenolysis)
R-HSA-8982491 Glycogen metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVK1, A6NDY6, ENST00000164139.1, ENST00000164139.2, ENST00000164139.3, NM_005609, P11217, PYGM , PYGM_HUMAN, uc317ccy.1, uc317ccy.2
UCSC ID: ENST00000164139.4_7
RefSeq Accession: NM_005609.4
Protein: P11217 (aka PYGM_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PYGM:
gsd5 (Glycogen Storage Disease Type V)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.