ENSG00000068976


Homo sapiens

Features
Gene ID: ENSG00000068976
  
Biological name :PYGM
  
Synonyms : glycogen phosphorylase, muscle associated / P11217 / PYGM
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q13.1
Gene start: 64746389
Gene end: 64760297
  
Corresponding Affymetrix probe sets: 205577_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000164139
Ensembl peptide - ENSP00000366650
NCBI entrez gene - 5837     See in Manteia.
OMIM - 608455
RefSeq - NM_001164716
RefSeq - NM_005609
RefSeq Peptide - NP_001158188
RefSeq Peptide - NP_005600
swissprot - P11217
Ensembl - ENSG00000068976
  
Related genetic diseases (OMIM): 232600 - McArdle disease, 232600
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pygmaENSDARG00000055518Danio rerio
 pygmbENSDARG00000013317Danio rerio
 PygmENSMUSG00000032648Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PYGB / P11216 / glycogen phosphorylase BENSG0000010099483
PYGL / P06737 / glycogen phosphorylase LENSG0000010050479


Protein motifs (from Interpro)
Interpro ID Name
 IPR000811  Glycosyl transferase, family 35
 IPR011833  Glycogen/starch/alpha-glucan phosphorylase
 IPR035090  Phosphorylase pyridoxal-phosphate attachment site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005977 glycogen metabolic process TAS
 biological_processGO:0005980 glycogen catabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004645 phosphorylase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008184 glycogen phosphorylase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0030170 pyridoxal phosphate binding IBA
 molecular_functionGO:0102250 linear malto-oligosaccharide phosphorylase activity IEA
 molecular_functionGO:0102499 SHG alpha-glucan phosphorylase activity IEA


Pathways (from Reactome)
Pathway description
Glycogen breakdown (glycogenolysis)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000083 Renal failure 
Show

 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
Show

 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
Show

 HP:0002913 Myoglobinuria 
Show

 HP:0003198 Myopathy 
Show

 HP:0003236 Elevated serum creatine phosphokinase 
Show

 HP:0003621 Juvenile onset 
Show

 HP:0003710 Muscle cramps with exercise 
Show

 HP:0003738 Exercise-induced myalgia "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators]
Show

 HP:0009045 Rhabdomyolysis with exercise 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000068976 PYGM / P11217 / glycogen phosphorylase, muscle associated  / complex
 ENSG00000163754 GYG1 / P46976 / glycogenin 1  / reaction
 ENSG00000164776 PHKG1 / Q16816 / phosphorylase kinase catalytic subunit gamma 1  / reaction
 ENSG00000102893 PHKB / Q93100 / phosphorylase kinase regulatory subunit beta  / reaction
 ENSG00000067177 PHKA1 / P46020 / phosphorylase kinase regulatory subunit alpha 1  / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr