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Aliases for GYG1 Gene

Aliases for GYG1 Gene

  • Glycogenin 1 2 3 5
  • Glycogenin Glucosyltransferase 2 3
  • EC 2.4.1.186 4 56
  • GN-1 3 4
  • GYG 3 4
  • Glycogenin-1 3
  • Glycogenin 2
  • GSD15 3
  • GN1 4

External Ids for GYG1 Gene

Previous HGNC Symbols for GYG1 Gene

  • GYG

Previous GeneCards Identifiers for GYG1 Gene

  • GC03P150193
  • GC03P148709
  • GC03P146081

Summaries for GYG1 Gene

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 Polyglucosan Body Myopathy 2. Among its related pathways are Glycogen storage diseases and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and glycogenin glucosyltransferase activity. An important paralog of this gene is GYG2.

UniProtKB/Swiss-Prot for GYG1 Gene

  • Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.

Additional gene information for GYG1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GYG1 Gene

Genomics for GYG1 Gene

GeneHancer (GH) Regulatory Elements for GYG1 Gene

Promoters and enhancers for GYG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I148990 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 559.9 +0.5 509 3.1 CLOCK ATF1 ARID4B SIN3A DMAP1 ZBTB7B ZNF48 GLIS2 ELK1 ZNF143 GYG1 HLTF HLTF-AS1
GH03I149015 Enhancer 1.1 Ensembl ENCODE dbSUPER 22.7 +27.4 27426 7 SOX13 CTCF PKNOX1 USF1 FOXA2 CEBPG ZNF644 TEAD3 ZFHX2 SCRT2 GYG1 UBQLN4P1 HLTF HLTF-AS1
GH03I149008 Enhancer 1 ENCODE dbSUPER 10.6 +19.3 19332 3.5 SOX13 TFAP4 FOXA2 SAP130 ARID4B CEBPG ZNF48 RARA TEAD3 ATF7 HLTF GYG1 HLTF-AS1
GH03I149042 Enhancer 0.7 Ensembl ENCODE 11.5 +52.3 52342 2.5 JUND HLF JUNB ZNF384 ATF7 ATF2 PRDM1 HLTF HLTF-AS1 GYG1 UBQLN4P1
GH03I149144 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 6 +155.1 155083 3.5 EBF1 ETV6 ELF1 SPI1 HLTF HLTF-AS1 GYG1 HPS3 GC03M149173
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GYG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GYG1 gene promoter:

Genomic Locations for GYG1 Gene

Genomic Locations for GYG1 Gene
chr3:148,991,341-149,027,669
(GRCh38/hg38)
Size:
36,329 bases
Orientation:
Plus strand
chr3:148,709,128-148,745,456
(GRCh37/hg19)

Genomic View for GYG1 Gene

Genes around GYG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GYG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GYG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GYG1 Gene

Proteins for GYG1 Gene

  • Protein details for GYG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46976-GLYG_HUMAN
    Recommended name:
    Glycogenin-1
    Protein Accession:
    P46976
    Secondary Accessions:
    • D3DNH0
    • D3DNH1
    • D3DNH2
    • Q6FHZ1
    • Q9UNV0

    Protein attributes for GYG1 Gene

    Size:
    350 amino acids
    Molecular mass:
    39384 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer tightly complexed to the 86 kDa catalytic subunit of glycogen synthase GYS1 (By similarity). Interacts (via C-terminus) with GYS2 (PubMed:17055998). This interaction is required for GYS2-mediated glycogen synthesis (By similarity).

    Three dimensional structures from OCA and Proteopedia for GYG1 Gene

    Alternative splice isoforms for GYG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GYG1 Gene

Selected DME Specific Peptides for GYG1 Gene

P46976:
  • TDQAFVTL
  • AKVVHFLG
  • SAAPDPGWPDCFNSGVFV
  • TLTKLHCW

Post-translational modifications for GYG1 Gene

  • Phosphorylated.
  • 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-195.
  • Ubiquitination at posLast=209209
  • Glycosylation at isoforms=2, 3195
  • Modification sites at PhosphoSitePlus

Domains & Families for GYG1 Gene

Gene Families for GYG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GYG1 Gene

Suggested Antigen Peptide Sequences for GYG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P46976

UniProtKB/Swiss-Prot:

GLYG_HUMAN :
  • Belongs to the glycosyltransferase 8 family. Glycogenin subfamily.
Family:
  • Belongs to the glycosyltransferase 8 family. Glycogenin subfamily.
genes like me logo Genes that share domains with GYG1: view

Function for GYG1 Gene

Molecular function for GYG1 Gene

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

Enzyme Numbers (IUBMB) for GYG1 Gene

Gene Ontology (GO) - Molecular Function for GYG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008466 glycogenin glucosyltransferase activity EXP 20357282
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GYG1: view
genes like me logo Genes that share phenotypes with GYG1: view

Human Phenotype Ontology for GYG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GYG1 Gene

MGI Knock Outs for GYG1:
  • Gyg tm1b(KOMP)Wtsi

Animal Model Products

miRNA for GYG1 Gene

miRTarBase miRNAs that target GYG1

Clone Products

  • Addgene plasmids for GYG1

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for GYG1 Gene

Localization for GYG1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GYG1 gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 4
plasma membrane 2
nucleus 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GYG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA,IDA 19946888
GO:0034774 secretory granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with GYG1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GYG1 Gene

Pathways & Interactions for GYG1 Gene

genes like me logo Genes that share pathways with GYG1: view

UniProtKB/Swiss-Prot P46976-GLYG_HUMAN

  • Pathway: Glycan biosynthesis; glycogen biosynthesis.

Gene Ontology (GO) - Biological Process for GYG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005978 glycogen biosynthetic process TAS --
GO:0005980 glycogen catabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with GYG1: view

No data available for SIGNOR curated interactions for GYG1 Gene

Drugs & Compounds for GYG1 Gene

(6) Drugs for GYG1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
Uridine diphosphate glucose Experimental Pharma Target 0
Uridine-5'-Diphosphate Experimental Pharma Target 0

(5) Additional Compounds for GYG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GYG1: view

Transcripts for GYG1 Gene

Unigene Clusters for GYG1 Gene

Glycogenin 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for GYG1

Alternative Splicing Database (ASD) splice patterns (SP) for GYG1 Gene

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: - - - - - - - -
SP6:
SP7: - -
SP8: -
SP9: - - - - -
SP10:
SP11: - -

ExUns: 13b · 13c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for GYG1 Gene

GeneLoc Exon Structure for
GYG1
ECgene alternative splicing isoforms for
GYG1

Expression for GYG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GYG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GYG1 Gene

This gene is overexpressed in Whole Blood (x8.9) and Muscle - Skeletal (x8.2).

Protein differential expression in normal tissues from HIPED for GYG1 Gene

This gene is overexpressed in Heart (8.3) and Skin (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GYG1 Gene



Protein tissue co-expression partners for GYG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GYG1 Gene:

GYG1

SOURCE GeneReport for Unigene cluster for GYG1 Gene:

Hs.477892

Evidence on tissue expression from TISSUES for GYG1 Gene

  • Muscle(4.6)
  • Skin(4.3)
  • Nervous system(4.3)
  • Heart(2.9)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GYG1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with GYG1: view

No data available for mRNA Expression by UniProt/SwissProt for GYG1 Gene

Orthologs for GYG1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GYG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GYG1 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia GYG1 33 34
  • 93.2 (n)
cow
(Bos Taurus)
Mammalia GYG1 33 34
  • 91.69 (n)
rat
(Rattus norvegicus)
Mammalia Gyg1 33
  • 87.09 (n)
mouse
(Mus musculus)
Mammalia Gyg 33 16 34
  • 86.99 (n)
oppossum
(Monodelphis domestica)
Mammalia GYG1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GYG1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves GYG1 34 33
  • 73.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GYG1 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gyg1 33
  • 72.14 (n)
MGC76101 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398319 33
zebrafish
(Danio rerio)
Actinopterygii gyg1b 33 34
  • 65.2 (n)
gyg1a 34
  • 63 (a)
OneToMany
Dr.13604 33
fruit fly
(Drosophila melanogaster)
Insecta Glycogenin 33 34
  • 55.31 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007724 33
  • 55.13 (n)
worm
(Caenorhabditis elegans)
Secernentea gyg-2 34
  • 48 (a)
ManyToMany
M116.2 34
  • 48 (a)
ManyToMany
gyg-1 34
  • 34 (a)
ManyToMany
T10B10.8 34
  • 15 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLG2 34
  • 24 (a)
ManyToMany
GLG1 34 36
  • 16 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06698 33
  • 50.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
Species where no ortholog for GYG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GYG1 Gene

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

Paralogs for GYG1 Gene

Paralogs for GYG1 Gene

(1) SIMAP similar genes for GYG1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for GYG1 Gene

genes like me logo Genes that share paralogs with GYG1: view

Variants for GYG1 Gene

Sequence variations from dbSNP and Humsavar for GYG1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs143137713 pathogenic, likely-pathogenic, Polyglucosan body myopathy 2, not provided, Polyglucosan body myopathy 2 (PGBM2) [MIM:616199] 148,996,462(+) G/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs148619511 benign, not specified, Glycogen storage disease XV, Polyglucosan body myopathy 2 148,996,317(+) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs267606858 uncertain-significance, pathogenic, not specified, Glycogen storage disease XV, Glycogen storage disease 15 (GSD15) [MIM:613507] 148,996,406(+) C/A/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs370652040 pathogenic, Polyglucosan body myopathy 2, not provided 148,994,280(+) G/C/T genic_upstream_transcript_variant, intron_variant
rs727502869 pathogenic, Polyglucosan body myopathy 2 149,026,850(+) C/T coding_sequence_variant, stop_gained, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for GYG1 Gene

Variant ID Type Subtype PubMed ID
esv2675130 CNV deletion 23128226
esv3598136 CNV loss 21293372
nsv829751 CNV loss 17160897
nsv829752 CNV loss 17160897
nsv829753 CNV gain 17160897
nsv967078 CNV duplication 23825009

Variation tolerance for GYG1 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GYG1 Gene

Human Gene Mutation Database (HGMD)
GYG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GYG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GYG1 Gene

Disorders for GYG1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GYG1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease xv
  • gsd15
polyglucosan body myopathy 2
  • pgbm2
glycogen storage disease
  • glycogenoses
glycogen storage disease type 0
  • glycogen storage disease 0
cardiac arrhythmia
  • extrasystoles
- elite association - COSMIC cancer census association via MalaCards
Search GYG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLYG_HUMAN
  • 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. {ECO:0000269 PubMed:20357282}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polyglucosan body myopathy 2 (PGBM2) [MIM:616199]: A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. {ECO:0000269 PubMed:25272951}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GYG1

genes like me logo Genes that share disorders with GYG1: view

No data available for Genatlas for GYG1 Gene

Publications for GYG1 Gene

  1. The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization. (PMID: 8602861) Barbetti F … Consalez GG (Biochemical and biophysical research communications 1996) 2 3 4 22 58
  2. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. (PMID: 20357282) Moslemi AR … Oldfors A (The New England journal of medicine 2010) 3 4 22 58
  3. Interaction between glycogenin and glycogen synthase. (PMID: 17055998) Skurat AV … Roach PJ (Archives of biochemistry and biophysics 2006) 3 4 22 58
  4. Structure and chromosomal localization of the human glycogenin-2 gene GYG2. (PMID: 10721716) Zhai L … Roach PJ (Gene 2000) 3 4 22 58
  5. Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain. (PMID: 10395894) van Maanen MH … Abraham LJ (Gene 1999) 3 4 22 58

Products for GYG1 Gene

  • Addgene plasmids for GYG1

Sources for GYG1 Gene

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