ENSG00000104812


Homo sapiens

Features
Gene ID: ENSG00000104812
  
Biological name :GYS1
  
Synonyms : glycogen synthase 1 / GYS1 / P13807
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.33
Gene start: 48968125
Gene end: 48993310
  
Corresponding Affymetrix probe sets: 201673_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000317904
Ensembl peptide - ENSP00000263276
Ensembl peptide - ENSP00000470072
NCBI entrez gene - 2997     See in Manteia.
OMIM - 138570
RefSeq - NM_002103
RefSeq - NM_001161587
RefSeq Peptide - NP_001155059
RefSeq Peptide - NP_002094
swissprot - P13807
swissprot - M0QYU1
Ensembl - ENSG00000104812
  
Related genetic diseases (OMIM): 611556 - Glycogen storage disease 0, muscle, 611556
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
 gys1ENSDARG00000016875Danio rerio
 Gys1ENSMUSG00000003865Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GYS2 / P54840 / glycogen synthase 2ENSG0000011171368


Protein motifs (from Interpro)
Interpro ID Name
 IPR008631  Glycogen synthase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005977 glycogen metabolic process IEA
 biological_processGO:0005978 glycogen biosynthetic process IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008152 metabolic process IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016234 inclusion body IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004373 glycogen (starch) synthase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005536 glucose binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0061547 glycogen synthase activity, transferring glucose-1-phosphate EXP


Pathways (from Reactome)
Pathway description
Glycogen synthesis
Myoclonic epilepsy of Lafora
Glycogen storage disease type XV (GYG1)
Glycogen storage disease type 0 (muscle GYS1)


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:0001638 Cardiomyopathy 
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 HP:0001712 Left ventricular hypertrophy 
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 HP:0002069 Generalized tonic-clonic seizures "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators]
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 HP:0003546 Exercise intolerance 
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 HP:0012270 Decreased muscle glycogen content "A decreased amount of glycogen in muscle tissue." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000119938 Q9UQK1 / PPP1R3C / protein phosphatase 1 regulatory subunit 3C  / complex / reaction
 ENSG00000104812 GYS1 / P13807 / glycogen synthase 1  / complex
 ENSG00000163754 GYG1 / P46976 / glycogenin 1  / complex
 ENSG00000112425 EPM2A / O95278 / EPM2A, laforin glucan phosphatase  / reaction
 ENSG00000114480 GBE1 / Q04446 / 1,4-alpha-glucan branching enzyme 1  / reaction






 

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