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PYGM
HPA
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  • PYGM
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PYGM
Synonyms GSD5
Gene descriptioni

Full gene name according to HGNC.

Glycogen phosphorylase, muscle associated
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 11
Cytoband q13.1
Chromosome location (bp) 64746389 - 64759974
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000068976 (version 109)
Entrez gene 5837
HGNC HGNC:9726
UniProt P11217 (UniProt - Evidence at protein level)
neXtProt NX_P11217
GeneCards PYGM
Antibodypedia PYGM antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Allosteric enzyme, Glycosyltransferase, Transferase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Carbohydrate metabolism, Glycogen metabolism
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Nucleotide-binding, Pyridoxal phosphate
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PYGM-201
ENSP00000164139
ENST00000164139
P11217
[Direct mapping] Glycogen phosphorylase, muscle form
Show all
Enzymes
   ENZYME proteins
   Transferases
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of carbohydrate metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003824 [catalytic activity]
GO:0004645 [1,4-alpha-oligoglucan phosphorylase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005975 [carbohydrate metabolic process]
GO:0005977 [glycogen metabolic process]
GO:0005980 [glycogen catabolic process]
GO:0008152 [metabolic process]
GO:0008184 [glycogen phosphorylase activity]
GO:0016740 [transferase activity]
GO:0016757 [glycosyltransferase activity]
GO:0030170 [pyridoxal phosphate binding]
GO:0070062 [extracellular exosome]
GO:0102250 [linear malto-oligosaccharide phosphorylase activity]
GO:0102499 [SHG alpha-glucan phosphorylase activity]
Show all
842 aa
97.1 kDa
No 0
PYGM-202
ENSP00000366650
ENST00000377432
P11217
[Direct mapping] Glycogen phosphorylase, muscle form
Show all
Enzymes
   ENZYME proteins
   Transferases
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of carbohydrate metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003824 [catalytic activity]
GO:0004645 [1,4-alpha-oligoglucan phosphorylase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005975 [carbohydrate metabolic process]
GO:0005977 [glycogen metabolic process]
GO:0005980 [glycogen catabolic process]
GO:0008152 [metabolic process]
GO:0008184 [glycogen phosphorylase activity]
GO:0016740 [transferase activity]
GO:0016757 [glycosyltransferase activity]
GO:0030170 [pyridoxal phosphate binding]
GO:0070062 [extracellular exosome]
GO:0102250 [linear malto-oligosaccharide phosphorylase activity]
GO:0102499 [SHG alpha-glucan phosphorylase activity]
Show all
754 aa
87.3 kDa
No 0

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