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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GYG1 Gene

protein-coding   GIFtS: 57
GCID: GC03P148709

glycogenin 1

(Previous name: glycogenin )
(Previous symbol: GYG)
 Explore 6 diseases affiliated with
GYG1 via our new
 Human Malady Compendium 
Biological research products
for GYG1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Glycogenin 11 2     Glycogenin1
GYG1 2 3     Glycogenin Glucosyltransferase2
GN-12 3     Glycogenin-11
EC 2.4.1.1863 8     GN13
GSD152 5     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GYG1:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GYG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Sequence caution: Sequence=CAA56073.1; Type=Frameshift; Positions=204;
6/12 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: 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46976

  • 4 DME Specific Peptides for GYG1 (P46976)
     TLTKLHCW  TDQAFVTL  AKVVHFLG  SAAPDPGWPDCFNSGVFV 

    GYG1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for GYG1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005829cytosol TAS--


    GYG1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GYG1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002495 Glyco_trans_8

    Graphical View of Domain Structure for InterPro Entry P46976

    ProtoNet protein and cluster: P46976

    1 Blocks protein family: IPB002495 Glycosyl transferase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    Catalytic activity: UDP-alpha-D-glucose + glycogenin = UDP + alpha-D-glucosylglycogenin

    Enzyme Number (IUBMB): EC 2.4.1.1861 2

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17055998
    GO:0005536glucose binding IEA--
    GO:0008466glycogenin glucosyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--


    GYG1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glycogen breakdown (glycogenolysis)
    Glycogen breakdown (glycogenolysis)1.00
    Glycogen Metabolism0.35
    2glycogen biosynthesis II (from UDP-D-Glucose)
    glycogen biosynthesis II (from UDP-D-Glucose)1.00
    Glycogen synthesis0.75
    3Glucose metabolism
    Glucose metabolism1.00
    4Insulin Signaling
    Insulin Signaling1.00
    5Metabolism
    Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5        Reactome Pathways for GYG1
        Metabolism of carbohydrates
    Glycogen breakdown (glycogenolysis)
    Metabolism
    Glucose metabolism
    Glycogen synthesis


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


    GYG1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GYG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/33 Interacting proteins for GYG1 (P469761, 3 ENSP000003407364) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GYS1P138071, 3, ENSP000003179044EBI-740533,EBI-2948518 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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GYG1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GYG1

    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 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)

    Search CenterWatch for drugs/clinical trials and news about GYG1 / GLYG 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    14 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 ENST00000479236

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    Additional cDNA 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 

    24/476 AceView cDNA sequences (see all 476):

    AI523180 AI199964 BI767516 BM836970 BG191977 BP342552 BM847082 BQ183225 
    BU688159 BI753155 AI097190 AL560162 BG185164 BM824852 BX331328 AL542000 
    AA746266 BX280372 T16840 CD370509 AI818170 AW244064 BC000033 AA411678 

    GeneLoc Exon Structure

    5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GYG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTAAAATGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    GYG1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartRight VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GYG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GYG1

    SOURCE GeneReport for Unigene cluster: Hs.477892
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GYG1 gene from 9/28 species (see all 28)    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
    --
    63(a)
    1 ↔ 1
    3(19130125-19149747)
    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 cds less 74.03(n)    BC044387.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Glycogenin6
    Glycogenin
    23(a)
    1 → many
    2R(17087988-17100474)
    worm
    (Caenorhabditis elegans)
    Secernentea M116.26
    gyg-26
    (see all 4)
    Protein GYG-2
    (see all 4)
    47(a)
    46(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(8398850-8400349)
    V(16745085-16746240)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AtGolS76
    AtGolS36
    (see all 16)
    galactinol synthase 3
    (see all 16)
    21(a)
    21(a)
    (see all 16)
    possible ortholog
    possible ortholog
    (see all 16)
    1(22271226-22273214)
    1(3019819-3021441)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 10)
    glycosyl transferase 8 domain containing protein, ...
    glycosyl transferase 8 domain containing protein, ...
    (see all 10)
    21(a)
    20(a)
    (see all 10)
    possible ortholog
    possible ortholog
    (see all 10)
    7(29219291-29220851)
    3(11365917-11367637)


    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)
    About This Section
    Paralogs for GYG1 gene
    GYG2P12  GYG22  
    2 SIMAP similar genes for GYG1 using alignment to 7 protein entries:     GLYG_HUMAN (see all proteins):
    GYG2P1    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/689 NCBI SNPs in GYG1 are shown (see all 689    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs775322601,2
    F,--146079610(+) AAAGTG/ATAGCC 3 -- us2k11Minor allele frequency- A:0.06WA 118
    rs76294661,2
    C,F,H,--146079714(+) ACAACG/AGAAGC 3 -- us2k1 tfbs34Minor allele frequency- A:0.01NS EA 418
    rs1126137891,2
    C,--146079868(+) TGTTTT/CGTAAC 3 -- us2k12Minor allele frequency- C:0.03NA 122
    rs783226091,2
    --146080371(+) TGTTTC/GGACTG 3 -- us2k10--------
    rs1120036011,2
    --146081068(+) TGTTTG/TCTTGT 3 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs37366411,2
    C,F,A,H,--146081240(+) GCAGCC/GGCAGC 3 -- us2k111Minor allele frequency- G:0.31EA NS NA WA CSA 665
    rs1118482961,2
    C,--146081611(+) GTGTTC/GCCGGC 3 -- int12Minor allele frequency- G:0.20WA 120
    rs131006991,2
    C,F,H--146081935(+) CCCAGG/AAAGCA 3 -- int13Minor allele frequency- A:0.01NS NA 352
    rs738669291,2
    C,--146082204(+) CATTGA/CGGCTA 3 -- int13Minor allele frequency- C:0.11WA NA 240
    rs769556271,2
    F,--146082247(+) ACAAAG/TATTGC 3 -- int11Minor allele frequency- T:0.04WA 118

    HapMap Linkage Disequilibrium report for GYG1 (148709128 - 148745456 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GYG1: --
    Human Gene Mutation Database (HGMD): GYG1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GYG1 for disorders           About GeneDecksing

    OMIM gene information: 603942   
    OMIM disorders: 613507  
    UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976
  • Defects in GYG1 are the cause of glycogen storage disease type 15 (GSD15) [MIM:613507]. It is 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

    6 diseases for GYG1:    About MalaCards
    glycogen storage disease xv    glycogen storage disease    lymphogranuloma venereum    ornithosis
    metabolic disorders    diabetes mellitus

    1 Novoseek 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)
    About This Section

    PubMed articles for GYG1 gene, integrated from 9 sources (see all 67):
    (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. (1996)
    2. Interaction between glycogenin and glycogen synthase. (PubMed id 17055998)1, 2, 9 Skurat A.V....Roach P.J. (2006)
    3. Glycogenin-1 deficiency and inactivated priming of gl ycogen synthesis. (PubMed id 20357282)1, 2, 9 Moslemi A.R....Oldfors A. (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. (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. (1999)
    6. Structure and chromosomal localization of the human glycogenin-2 gene GYG2. (PubMed id 10721716)1, 2, 9 Zhai L.... Roach P.J. (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. (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. (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. (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. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2992 HGNC: 4699 AceView: GYG Ensembl:ENSG00000163754 euGenes: HUgn2992
    ECgene: GYG1 H-InvDB: GYG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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