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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 63
  • GN-1 3 4
  • GYG 3 4
  • 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 Metabolism and Glycosaminoglycan metabolism. 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.

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

Genomics for GYG1 Gene

Regulatory Elements for GYG1 Gene

Promoters for GYG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GYG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GYG1 Gene

Chromosome:
3
Start:
148,991,341 bp from pter
End:
149,027,669 bp from pter
Size:
36,329 bases
Orientation:
Plus strand

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

Proteomics data for GYG1 Gene at MOPED

Selected DME Specific Peptides for GYG1 Gene

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 Lys 209
  • Glycosylation at Tyr 195
  • Modification sites at PhosphoSitePlus

Domains & Families for GYG1 Gene

Gene Families for GYG1 Gene

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:0016757 transferase activity, transferring glycosyl groups 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

No data available for Transcription Factor Targets and HOMER Transcription for GYG1 Gene

Localization for GYG1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GYG1 Gene COMPARTMENTS Subcellular localization image for GYG1 gene
Compartment Confidence
cytosol 5
extracellular 5
vacuole 5
lysosome 4
nucleus 2
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GYG1 Gene

Pathways & Interactions for GYG1 Gene

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

Pathways by source for GYG1 Gene

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:0006006 glucose metabolic process TAS --
GO:0008152 metabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma Target 0
Uridine-5'-Monophosphate Glucopyranosyl-Monophosphateester Experimental Pharma Target 0
Manganese Pharma 32

(8) Additional Compounds for GYG1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate glucose
  • (UDP)glucose
  • (UPD)-glucose
  • UDP Glucose
  • UDP-a-D-Glucose
  • UDP-alpha-D-Glucose
133-89-1
genes like me logo Genes that share compounds with GYG1: view

Transcripts for GYG1 Gene

Unigene Clusters for GYG1 Gene

Glycogenin 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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, MOPED, and MaxQB for GYG1 Gene



SOURCE GeneReport for Unigene cluster for GYG1 Gene Hs.477892

genes like me logo Genes that share expression patterns with GYG1: view

Protein tissue co-expression partners for GYG1 Gene

Primer Products

In Situ Assay Products

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 36
  • 99 (a)
OneToOne
GYG1 35
  • 99.62 (n)
  • 99.43 (a)
cow
(Bos Taurus)
Mammalia GYG1 35
  • 91.69 (n)
  • 93.39 (a)
GYG1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GYG1 36
  • 94 (a)
OneToOne
GYG1 35
  • 93.2 (n)
  • 94.54 (a)
mouse
(Mus musculus)
Mammalia Gyg 16
Gyg 36
  • 86 (a)
OneToOne
Gyg 35
  • 86.99 (n)
  • 86.19 (a)
oppossum
(Monodelphis domestica)
Mammalia GYG1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GYG1 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gyg1 35
  • 87.09 (n)
  • 86.49 (a)
chicken
(Gallus gallus)
Aves GYG1 36
  • 72 (a)
OneToOne
GYG1 35
  • 73.19 (n)
  • 71.69 (a)
lizard
(Anolis carolinensis)
Reptilia GYG1 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398319 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gyg1 35
  • 72.14 (n)
  • 72.64 (a)
MGC76101 35
zebrafish
(Danio rerio)
Actinopterygii gyg1a 36
  • 63 (a)
OneToMany
gyg1b 36
  • 64 (a)
OneToMany
Dr.13604 35
gyg1b 35
  • 65.2 (n)
  • 65.83 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007724 35
  • 55.13 (n)
  • 53.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta Glycogenin 36
  • 24 (a)
OneToMany
Glycogenin 35
  • 55.31 (n)
  • 56.15 (a)
worm
(Caenorhabditis elegans)
Secernentea gyg-1 36
  • 34 (a)
ManyToMany
gyg-2 36
  • 48 (a)
ManyToMany
M116.2 36
  • 48 (a)
ManyToMany
T10B10.8 36
  • 15 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLG1 36
  • 16 (a)
ManyToMany
GLG2 36
  • 24 (a)
ManyToMany
GLG1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU06698 35
  • 50.14 (n)
  • 41.45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for GYG1:
  • 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 Sequence Context AA Info Type
VAR_063768 Glycogen storage disease 15 (GSD15)
VAR_072706 Polyglucosan body myopathy 2 (PGBM2)
VAR_072707 Polyglucosan body myopathy 2 (PGBM2)
rs4938 -- 149,009,346(+) CTGCC(A/G)TTTAT reference, synonymous-codon
rs1271540 -- 149,016,022(-) gcctc(C/T)caaag intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829751 CNV Loss 17160897
nsv829752 CNV Loss 17160897
nsv829753 CNV Gain 17160897
esv2675130 CNV Deletion 23128226

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)

Relevant External Links for GYG1 Gene

HapMap Linkage Disequilibrium report
GYG1
Human Gene Mutation Database (HGMD)
GYG1

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease xv
  • glycogen storage disease type xv
polyglucosan body myopathy 2
  • polyglucosan body myopathy type 2
glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
  • gsd type 15
glycogen storage disease
  • glycogenoses
loeys-dietz syndrome 5
  • rienhoff syndrome
- 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.

Relevant External Links for GYG1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 G.G. (Biochem. Biophys. Res. Commun. 1996) 2 3 4 23 67
  2. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. (PMID: 20357282) Moslemi A.R. … Oldfors A. (N. Engl. J. Med. 2010) 3 23
  3. Glycogenin protein and mRNA expression in response to changing glycogen concentration in exercise and recovery. (PMID: 17311895) Wilson R.J. … Graham T.E. (Am. J. Physiol. Endocrinol. Metab. 2007) 3 23
  4. Interaction between glycogenin and glycogen synthase. (PMID: 17055998) Skurat A.V. … Roach P.J. (Arch. Biochem. Biophys. 2006) 3 23
  5. Glycogenin activity and mRNA expression in response to volitional exhaustion in human skeletal muscle. (PMID: 15860684) Shearer J. … Bakovic M. (J. Appl. Physiol. 2005) 3 23

Products for GYG1 Gene

Sources for GYG1 Gene

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