Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GYS1 (glycogen synthase 1 (muscle))

Identity

Other namesGSY
GYS
HGNC (Hugo) GYS1
LocusID (NCBI) 2997
Location 19q13.33
Location_base_pair Starts at 49471382 and ends at 49496610 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)GYS1   4706
Cards
Entrez_Gene (NCBI)GYS1  2997  glycogen synthase 1 (muscle)
GeneCards (Weizmann)GYS1
Ensembl (Hinxton)ENSG00000104812 [Gene_View]  chr19:49471382-49496610 [Contig_View]  GYS1 [Vega]
ICGC DataPortalENSG00000104812
cBioPortalGYS1
AceView (NCBI)GYS1
Genatlas (Paris)GYS1
WikiGenes2997
SOURCE (Princeton)NM_001161587 NM_002103
Genomic and cartography
GoldenPath (UCSC)GYS1  -  19q13.33   chr19:49471382-49496610 -  19q13.33   [Description]    (hg19-Feb_2009)
EnsemblGYS1 - 19q13.33 [CytoView]
Mapping of homologs : NCBIGYS1 [Mapview]
OMIM138570   611556   
Gene and transcription
Genbank (Entrez)AK223579 AK291672 AK294349 AK300369 AK302738
RefSeq transcript (Entrez)NM_001161587 NM_002103
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NG_012923 NT_011109 NW_001838497 NW_004929415
Consensus coding sequences : CCDS (NCBI)GYS1
Cluster EST : UnigeneHs.386225 [ NCBI ]
CGAP (NCI)Hs.386225
Alternative Splicing : Fast-db (Paris)GSHG0015986
Alternative Splicing GalleryENSG00000104812
Gene ExpressionGYS1 [ NCBI-GEO ]     GYS1 [ SEEK ]   GYS1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13807 (Uniprot)
NextProtP13807  [Medical]
With graphics : InterProP13807
Splice isoforms : SwissVarP13807 (Swissvar)
Domains : Interpro (EBI)Glycogen_synth [organisation]  
Related proteins : CluSTrP13807
Domain families : Pfam (Sanger)Glycogen_syn (PF05693)   
Domain families : Pfam (NCBI)pfam05693   
DMDM Disease mutations2997
Blocks (Seattle)P13807
Human Protein AtlasENSG00000104812 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP13807
HPRD00721
IPIIPI00303868   IPI01015254   IPI01014815   IPI00922475   IPI00877630   IPI00157144   
Protein Interaction databases
DIP (DOE-UCLA)P13807
IntAct (EBI)P13807
FunCoupENSG00000104812
BioGRIDGYS1
InParanoidP13807
Interologous Interaction database P13807
IntegromeDBGYS1
STRING (EMBL)GYS1
Ontologies - Pathways
Ontology : AmiGOglycogen (starch) synthase activity  glycogen (starch) synthase activity  protein binding  glucose binding  cytosol  carbohydrate metabolic process  glycogen biosynthetic process  glycogen biosynthetic process  glycogen biosynthetic process  glucose metabolic process  heart development  membrane  inclusion body  protein kinase binding  small molecule metabolic process  glycogen synthase activity, transferring glucose-1-phosphate  
Ontology : EGO-EBIglycogen (starch) synthase activity  glycogen (starch) synthase activity  protein binding  glucose binding  cytosol  carbohydrate metabolic process  glycogen biosynthetic process  glycogen biosynthetic process  glycogen biosynthetic process  glucose metabolic process  heart development  membrane  inclusion body  protein kinase binding  small molecule metabolic process  glycogen synthase activity, transferring glucose-1-phosphate  
Pathways : KEGGStarch and sucrose metabolism    PI3K-Akt signaling pathway    Insulin signaling pathway   
Protein Interaction DatabaseGYS1
Wikipedia pathwaysGYS1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GYS1
snp3D : Map Gene to Disease2997
SNP (GeneSNP Utah)GYS1
SNP : HGBaseGYS1
Genetic variants : HAPMAPGYS1
Exome VariantGYS1
1000_GenomesGYS1 
ICGC programENSG00000104812 
Somatic Mutations in Cancer : COSMICGYS1 
CONAN: Copy Number AnalysisGYS1 
Mutations and Diseases : HGMDGYS1
Mutations and Diseases : intOGenGYS1
Genomic VariantsGYS1  GYS1 [DGVbeta]
dbVarGYS1
ClinVarGYS1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM138570    611556   
MedgenGYS1
GENETestsGYS1
Disease Genetic AssociationGYS1
Huge Navigator GYS1 [HugePedia]  GYS1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneGYS1
Homology/Alignments : Family Browser (UCSC)GYS1
Phylogenetic Trees/Animal Genes : TreeFamGYS1
Chemical/Protein Interactions : CTD2997
Chemical/Pharm GKB GenePA29084
Clinical trialGYS1
Cancer Resource (Charite)ENSG00000104812
Other databases
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
CoreMineGYS1
iHOPGYS1
OncoSearchGYS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:49:00 CEST 2014

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