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GYG1 Gene

protein-coding   GIFtS: 63
GCID: GC03P148709

Glycogenin 1

(Previous name: glycogenin)
(Previous symbol: GYG)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glycogenin 11 2     GSD152 5
GYG1 2 3     glycogenin1
Glycogenin Glucosyltransferase1 2     glycogenin-12
GN-12 3     GN13
EC 2.4.1.1863 8     

External Ids:    HGNC: 46991   Entrez Gene: 29922   Ensembl: ENSG000001637547   OMIM: 6039425   UniProtKB: P469763   

Export aliases for GYG1 gene to outside databases

Previous GC identifers: GC03P150193 GC03P146081


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GYG1 Gene:
This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the
formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This
reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching
enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in
glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively
spliced transcript variants encoding different isoforms have been identified.(provided by RefSeq, Sep 2010)

GeneCards Summary for GYG1 Gene:
GYG1 (glycogenin 1) is a protein-coding gene. Diseases associated with GYG1 include glycogen storage disease xv, and ornithosis. GO annotations related to this gene include glycogenin glucosyltransferase activity and glucose binding. An important paralog of this gene is GYG2.

UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976
Function: Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as
substrate for glycogen synthase




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GYG1 gene promoter:
         AML1a   Pax-5   NRSF form 1   MyoD   Lmo2   LCR-F1   NRSF form 2   COMP1   MRF-2   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGYG1 promoter sequence
   Search Chromatin IP Primers for GYG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GYG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q24-q25.1   Ensembl cytogenetic band:  3q24   HGNC cytogenetic band: 3q24-q25.1

GYG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GYG1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P148709:  view genomic region     (about GC identifiers)

Start:
148,709,128 bp from pter      End:
148,745,456 bp from pter
Size:
36,329 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976 (See protein sequence)
Recommended Name: Glycogenin-1  
Size: 350 amino acids; 39384 Da
Cofactor: Divalent metal ions. Required for self-glucosylation. Manganese is the most effective
Subunit: Homodimer tightly complexed to the 86 kDa catalytic subunit of glycogen synthase GYS1
Selected PDB 3D structures from and Proteopedia for GYG1 (see all 12):
3Q4S (3D)        3QVB (3D)        3RMV (3D)        3RMW (3D)        3T7M (3D)        3T7N (3D)    
Secondary accessions: D3DNH0 D3DNH1 D3DNH2 Q6FHZ1 Q9UNV0
Alternative splicing: 3 isoforms:  P46976-1   P46976-2   P46976-3   

Explore the universe of human proteins at neXtProt for GYG1: NX_P46976

Explore proteomics data for GYG1 at MOPED

Post-translational modifications: 

  • Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of
    around 10 residues attached to Tyr-1951
  • Phosphorylated (By similarity)1
  • Ubiquitination2 at Lys209
  • Glycosylation2 at Tyr195
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for GYG1 (P46976)
     TLTKLHCW  TDQAFVTL  AKVVHFLG  SAAPDPGWPDCFNSGVFV 


    See GYG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001171649.1  NP_001171650.1  NP_004121.2  

    ENSEMBL proteins: 
     ENSP00000340736   ENSP00000296048   ENSP00000419499   ENSP00000420683   ENSP00000418297  
     ENSP00000420247   ENSP00000417671  
    Reactome Protein details: P46976

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLT8: Glycosyltransferase family 8 domain containing

    1 InterPro protein domain:
     IPR002495 Glyco_trans_8

    Graphical View of Domain Structure for InterPro Entry P46976

    ProtoNet protein and cluster: P46976

    1 Blocks protein domain: IPB002495 Glycosyl transferase

    UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976
    Similarity: Belongs to the glycosyltransferase 8 family. Glycogenin subfamily


    GYG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLYG_HUMAN, P46976
    Function: Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as
    substrate for glycogen synthase
    Catalytic activity: UDP-alpha-D-glucose + glycogenin = UDP + alpha-D-glucosylglycogenin

         Enzyme Number (IUBMB): EC 2.4.1.1861 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
    GO:0005536glucose binding IEA--
    GO:0008466glycogenin glucosyltransferase activity EXP--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    GYG1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Gyg (no phenotypes)

    GYG1 for phenotypes           About GeneDecksing

    Animal Models:
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    miRTarBase miRNAs that target GYG1:
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    Block miRNA regulation of human, mouse, rat GYG1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate GYG1:
    hsa-miR-194 hsa-miR-4277
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    extracellular1
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    GYG1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GYG1 About    
    See pathways by source

    SuperPathContained pathways About
    1Glucose metabolism
    Glucose metabolism0.44
    Glycogen breakdown (glycogenolysis)0.00
    Glycogen synthesis0.00
    glycogen biosynthesis II (from UDP-D-Glucose)0.00
    2MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    3Metabolism
    Metabolism0.38
    4Insulin Signaling
    Insulin Signaling
    5Glycogen Metabolism
    Glycogen Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for GYG1
        Insulin Signaling
    Glycogen Metabolism
    glycogen biosynthesis II (from UDP-D-Glucose)


    3 Reactome Pathways for GYG1
        Glycogen synthesis
    Glycogen breakdown (glycogenolysis)
    Myoclonic epilepsy of Lafora


    UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976
    Pathway: Glycan biosynthesis; glycogen biosynthesis


    GYG1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GYG1
    Interactions:

        Search GeneGlobe Interaction Network for GYG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GYG1 (P469761, 3 ENSP000003407364) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GYS1P138071, 3, ENSP000003179044EBI-740533,EBI-740553 I2D: score=5 STRING: ENSP00000317904
    PRKAA2P546463, ENSP000003602904I2D: score=3 STRING: ENSP00000360290
    PRKAB2O437413, ENSP000002541014I2D: score=3 STRING: ENSP00000254101
    GYG2O154883, ENSP000003705554I2D: score=2 STRING: ENSP00000370555
    TRIM7Q9C0293, ENSP000002747734I2D: score=2 STRING: ENSP00000274773
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005978glycogen biosynthetic process TAS--
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    GYG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GYG1 (GLYG)

    3 HMDB Compounds for GYG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate glucose(UPD)-glucose (see all 24)133-89-1--

    2 DrugBank Compounds for GYG1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Uridine-5'-Diphosphate-- 58-98-0target--10592235
    Uridine-5'-Monophosphate Glucopyranosyl-Monophosphateester-- --target--10592235

    8 Novoseek inferred chemical compound relationships for GYG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cdp-d-glucose 86 4 7867779 (1)
    glycogen 83.9 109 7672505 (6), 8408025 (6), 10644553 (6), 17055998 (5) (see all 39)
    udpglucose 75.7 10 7867779 (2), 7771798 (1), 7672505 (1), 8179193 (1) (see all 6)
    udpxylose 75.4 2 7625844 (1), 7780202 (1)
    glucose 47.1 27 7771798 (3), 12767902 (2), 11719595 (2), 1915338 (2) (see all 14)
    trichloroacetic acid 43.6 1 8179193 (1)
    polysaccharide 32.6 3 7672505 (1), 8408025 (1), 11708778 (1)
    tyrosine 0 4 18671943 (1), 1499031 (1), 1915338 (1)



    GYG1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GYG1 gene (3 alternative transcripts): 
    NM_001184720.1  NM_001184721.1  NM_004130.3  

    Unigene Cluster for GYG1:

    Glycogenin 1
    Hs.477892  [show with all ESTs]
    Unigene Representative Sequence: NM_004130
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000345003(uc011bnp.2 uc003ewn.3 uc003ewo.3 uc003ewp.3)
    ENST00000296048 ENST00000483267 ENST00000478067 ENST00000484197 ENST00000492285
    ENST00000461191 ENST00000473005 ENST00000465547 ENST00000497528 ENST00000488851
    ENST00000479119 ENST00000469873
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    Additional mRNA sequence: 

    AF087942.1 AK299962.1 AK312283.1 BC000033.2 BC031096.2 CR536547.1 U31525.1 U44131.1 
    X79537.1 

    21 DOTS entries:

    DT.100806483  DT.100029240  DT.446917  DT.95160304  DT.100806479  DT.100806474  DT.100806480  DT.100029243 
    DT.100806477  DT.100842559  DT.120883062  DT.100806471  DT.100806476  DT.120883101  DT.120883102  DT.120883105 
    DT.120883107  DT.120883126  DT.97850445  DT.100806473  DT.95187325 

    Selected AceView cDNA sequences (see all 476):

    CR604931 BE673557 BE645982 BM836970 BI829773 BE743994 AJ712103 AI288489 
    AA131849 AU099333 BI821911 N46453 BU688159 BQ574224 AU105314 BM843577 
    AL560162 AJ346489 AA027207 BC031096 AA548166 BP379449 BF940834 AI798825 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GYG1 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a ·
    SP1:                                      -     -                                                           -     -     -     -                                 
    SP2:                                      -     -                                                           -     -     -     -                       -         
    SP3:                                      -     -                                                     -     -     -     -     -                                 
    SP4:                                      -     -                                                           -     -     -     -           -     -     -         
    SP5:                                      -     -                                                     -     -     -     -     -     -                           

    ExUns: 13b · 13c
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for GYG1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GYG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAAATGCT
    GYG1 Expression
    About this image


    GYG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiac Crescent Cells Cardiac Crescent
             Heart Tube
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Bone (Muscoskeletal System)
             Bone Marrow
    GYG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GYG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.477892
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GYG1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gyg1 , 5 glycogenin1, 5 86.99(n)1
    86.19(a)1
      3 (6.19 cM)5
    273571  NM_013755.21  NP_038783.11 
     201220845 
    chicken
    (Gallus gallus)
    Aves GYG11 glycogenin 1 73.19(n)
    71.69(a)
      425050  NM_001006558.1  NP_001006558.1 
    lizard
    (Anolis carolinensis)
    Reptilia GYG16
    glycogenin 1
    63(a)
    1 ↔ 1
    3(19130125-19163195)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3983192 mitotic phosphoprotein 45 75.7(n)    AF419148.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.136042 Danio rerio cDNA clone MGC55385 IMAGE2602021, complete more 74.03(n)    BC044387.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Glycogenin1 Glycogenin 55.31(n)
    56.15(a)
      37419  NM_166432.3  NP_726040.1 
    worm
    (Caenorhabditis elegans)
    Secernentea gyg-26
    M116.26
    (see all 4)
    Protein M116.2 (M116.2) mRNA, complete cds
    (see all 4)
    48(a)
    48(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    V(16745107-16746258) WBGene00012020
    IV(8398863-8400362) WBGene00019789
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GLG1(YKR058W)4 Self-glucosylating initiator of glycogen synthesis, more   --   11(552770-554620) 853932  NP_012984.2 


    ENSEMBL Gene Tree for GYG1 (if available)
    TreeFam Gene Tree for GYG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GYG1 gene
    GYG22  
    1 SIMAP similar gene for GYG1 using alignment to 6 protein entries:     GLYG_HUMAN (see all proteins):
    GYG2

    GYG1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for GYG1
    PGOHUM00000248649 PGOHUM00000244731 PGOHUM00000249391


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GYG1 (see all 842)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637684
    Glycogen storage disease 15 (GSD15)4--see VAR_0637682 T M mis40--------
    rs1408189061,2
    C--146086922(+) AATAT-/TGTG  
            
    TGTGT
    3 -- int10--------
    rs1511269961,2
    C--146086922(+) AATAT-/TGTGTGT 3 -- int10--------
    rs1159315921,2
    F--148690325(+) TAAACG/ATCCTG 3 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1431831421,2
    --148690501(+) GATGGC/TAGGAG 3 -- us2k10--------
    rs1897076201,2
    --148690620(+) AGATAC/TAAAAG 3 -- us2k10--------
    rs775322601,2
    C,F--148690627(+) AAAGTG/ATAGCC 3 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1387112251,2
    --148690634(+) AGCCTG/TTGTGT 3 -- us2k10--------
    rs1834649211,2
    --148690642(+) TGTTCC/TTTAAA 3 -- us2k10--------
    rs1150023281,2
    F--148690650(+) AAAGAG/ACTCCA 3 -- us2k11Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for GYG1 (148709128 - 148745456 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GYG1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675130CNV Deletion23128226
    nsv829751CNV Loss17160897
    nsv829752CNV Loss17160897
    nsv829753CNV Gain17160897

    Human Gene Mutation Database (HGMD): GYG1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GYG1
    DNA2.0 Custom Variant and Variant Library Synthesis for GYG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603942   
    OMIM disorders: 613507  
    UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976
  • Glycogen storage disease 15 (GSD15) [MIM:613507]: A metabolic disorder resulting in muscle weakness,
    associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the
    accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of
    slow-twitch, oxidative muscle fibers and mitochondrial proliferation. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for GYG1:    
    About MalaCards
    glycogen storage disease xv    ornithosis    lymphogranuloma venereum    glycogen storage disease
    diabetes mellitus    multiple myeloma    malaria    myeloma

    3 diseases from the University of Copenhagen DISEASES database for GYG1:
    Glycogen storage disease     Lymphogranuloma venereum     Ornithosis

    GYG1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GYG1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    niddm 5.6 2 10334321 (2)


    Export disorders for GYG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GYG1 gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with GYG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization. (PubMed id 8602861)1, 2, 3, 9 Barbetti F.... Consalez G.G. (Biochem. Biophys. Res. Commun. 1996)
    2. Interaction between glycogenin and glycogen synthase. (PubMed id 17055998)1, 2, 9 Skurat A.V.... Roach P.J. (Arch. Biochem. Biophys. 2006)
    3. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. (PubMed id 20357282)1, 2, 9 Moslemi A.R....Oldfors A. (N. Engl. J. Med. 2010)
    4. The human intron-containing gene for glycogenin maps to chromosome 3, band q24. (PubMed id 8661012)1, 2, 9 Lomako J....Rodriguez I.R. (Genomics 1996)
    5. Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain. (PubMed id 10395894)1, 2, 9 van Maanen M.-H.... Abraham L.J. (Gene 1999)
    6. Structure and chromosomal localization of the human glycogenin-2 gene GYG2. (PubMed id 10721716)1, 2, 9 Zhai L.... Roach P.J. (Gene 2000)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Increases in glycogenin and glycogenin mRNA accompany glycogen resynthesis in human skeletal muscle. (PubMed id 15870102)1, 9 Shearer J....Graham T.E. (Am. J. Physiol. Endocrinol. Metab. 2005)
    9. Glycogenin activity and mRNA expression in response to volitional exhaustion in human skeletal muscle. (PubMed id 15860684)1, 9 Shearer J....Bakovic M. (J. Appl. Physiol. 2005)
    10. Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism. (PubMed id 9857012)1, 9 Mu J. and Roach P.J. (J. Biol. Chem. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2992 HGNC: 4699 AceView: GYG Ensembl:ENSG00000163754 euGenes: HUgn2992
    ECgene: GYG1 H-InvDB: GYG1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GYG1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GYG1 gene:
    Search GeneIP for patents involving GYG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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