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PYGM

GENERAL INFORMATION

Gene name

 PYGM

Gene description

 Phosphorylase, glycogen, muscle

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)
FANTOM5:Tissue enriched (skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in skeletal muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA056003
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)

GENE INFORMATION

Gene name

 PYGM

Synonyms

Description

 Phosphorylase, glycogen, muscle (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 11

Cytoband

 q13.1

Chromosome location (bp)

 64746389 - 64760297

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000068976 (version 83.38)

Entrez gene

 5837

UniProt

 P11217 (UniProt - Evidence at protein level)

neXtProt

 NX_P11217

Antibodypedia

 PYGM antibodies

PROTEIN BROWSER
PYGM-001
PYGM-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PYGM-001
ENSP00000164139
ENST00000164139
P11217 [Direct mapping]
Glycogen phosphorylase, muscle form
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Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0004645 [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:0006006 [glucose metabolic process]
GO:0006874 [cellular calcium ion homeostasis]
GO:0008144 [drug binding]
GO:0008184 [glycogen phosphorylase activity]
GO:0010033 [response to organic substance]
GO:0016208 [AMP binding]
GO:0016529 [sarcoplasmic reticulum]
GO:0030170 [pyridoxal phosphate binding]
GO:0030246 [carbohydrate binding]
GO:0044281 [small molecule metabolic process]
GO:0051591 [response to cAMP]
GO:0070062 [extracellular exosome]
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 842 aa
97.1 kDa 		No 0
PYGM-002
ENSP00000366650
ENST00000377432
P11217 [Direct mapping]
Glycogen phosphorylase, muscle form
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004645 [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:0006006 [glucose metabolic process]
GO:0008184 [glycogen phosphorylase activity]
GO:0030170 [pyridoxal phosphate binding]
GO:0044281 [small molecule metabolic process]
GO:0070062 [extracellular exosome]
Show all
 754 aa
87.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.