ENSG00000100504


Homo sapiens

Features
Gene ID: ENSG00000100504
  
Biological name :PYGL
  
Synonyms : glycogen phosphorylase L / P06737 / PYGL
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q22.1
Gene start: 50857891
Gene end: 50944736
  
Corresponding Affymetrix probe sets: 202990_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000216392
Ensembl peptide - ENSP00000443787
Ensembl peptide - ENSP00000431657
NCBI entrez gene - 5836     See in Manteia.
OMIM - 613741
RefSeq - NM_001163940
RefSeq - NM_002863
RefSeq Peptide - NP_001157412
RefSeq Peptide - NP_002854
swissprot - E9PK47
swissprot - P06737
Ensembl - ENSG00000100504
  
Related genetic diseases (OMIM): 232700 - Glycogen storage disease VI, 232700
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
 pyglENSDARG00000002197Danio rerio
 PYGLENSGALG00000012365Gallus gallus
 PyglENSMUSG00000021069Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PYGB / P11216 / glycogen phosphorylase BENSG0000010099481
PYGM / P11217 / glycogen phosphorylase, muscle associatedENSG0000006897679


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 IMP
 biological_processGO:0005980 glycogen catabolic process IEA
 biological_processGO:0006015 5-phosphoribose 1-diphosphate biosynthetic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0042593 glucose homeostasis IMP
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0070266 necroptotic process IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0002060 purine nucleobase binding IDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004645 phosphorylase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0005536 glucose binding NAS
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0008184 glycogen phosphorylase activity IDA
 molecular_functionGO:0016208 AMP binding IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0019842 vitamin binding IDA
 molecular_functionGO:0030170 pyridoxal phosphate binding IBA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0032052 bile acid binding IDA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0102250 linear malto-oligosaccharide phosphorylase activity IEA
 molecular_functionGO:0102499 SHG alpha-glucan phosphorylase activity IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
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]
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0003077 Hyperlipidemia 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0006568 Increased liver glycogen content 
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 HP:0008897 Growth retardation, progressive 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100504 PYGL / P06737 / glycogen phosphorylase L  / complex
 ENSG00000056998 GYG2 / O15488 / glycogenin 2  / reaction
 ENSG00000102893 PHKB / Q93100 / phosphorylase kinase regulatory subunit beta  / reaction
 ENSG00000156873 PHKG2 / P15735 / phosphorylase kinase catalytic subunit gamma 2  / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / reaction
 ENSG00000044446 PHKA2 / P46019 / phosphorylase kinase regulatory subunit alpha 2  / reaction






 

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