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GYG1 glycogenin 1 [ Homo sapiens (human) ]

Gene ID: 2992, updated on 8-Dec-2018

Summary

Official Symbol
GYG1provided by HGNC
Official Full Name
glycogenin 1provided by HGNC
Primary source
HGNC:HGNC:4699
See related
Ensembl:ENSG00000163754 MIM:603942
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GYG; GSD15
Summary
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]
Expression
Broad expression in bone marrow (RPKM 53.8), testis (RPKM 49.1) and 25 other tissues See more
Orthologs

Genomic context

See GYG1 in Genome Data Viewer
Location:
3q24
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (148991408..149027669)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (148709195..148745456)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986045 Neighboring gene ubiquilin 4 pseudogene 1 Neighboring gene helicase like transcription factor Neighboring gene HLTF antisense RNA 1 Neighboring gene mediator complex subunit 28 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of carbohydrate metabolism, organism-specific biosystem (from REACTOME)
    Diseases of carbohydrate metabolism, organism-specific biosystemThe processes by which dietary carbohydrate is digested to monosaccharides and these are taken up from the gut lumen into cells where they are oxidized to yield energy or consumed in biosynthetic pro...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
  • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
    Glycogen breakdown (glycogenolysis), organism-specific biosystemCytosolic glycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates...
  • Glycogen storage disease type 0 (muscle GYS1), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type 0 (muscle GYS1), organism-specific biosystemGlycogen synthase 1 (GYS1 "muscle") is widely expressed in the body. It normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. T...
  • Glycogen storage disease type II (GAA), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type II (GAA), organism-specific biosystemGlycogen storage disease type II (GSD II - Pompe's disease) is caused by mutations that reduce or eliminate the activity of lysosomal alpha-glucosidase (GAA) (Hers 1963). The presentation of GSD II v...
  • Glycogen storage disease type IV (GBE1), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type IV (GBE1), organism-specific biosystemNormally, cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules of both l...
  • Glycogen storage disease type XV (GYG1), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type XV (GYG1), organism-specific biosystemGlycogen synthesis is normally initiated by the autoglycosylation of glycogenin (GYG) to form oligo (1,4)-alpha-D-glucosyl GYG. A missense mutation of GYG1 yields a protein that cannot undergo glucos...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycogen synthesis, organism-specific biosystem (from REACTOME)
    Glycogen synthesis, organism-specific biosystemGlycogen, a highly branched glucose polymer, is formed and broken down in most human tissues, but is most abundant in liver and muscle, where it serves as a major stored fuel. Glycogen metabolism has...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Lysosomal glycogen catabolism, organism-specific biosystem (from REACTOME)
    Lysosomal glycogen catabolism, organism-specific biosystemWhile most glycogen is cytosolic, glycogen granules are also found in lysosomes, which they are thought to enter by autophagy. Once in lysosomes, the polysaccharide component of the granules is degra...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
    Starch and sucrose metabolism, organism-specific biosystem
    Starch and sucrose metabolism
  • Starch and sucrose metabolism, conserved biosystem (from KEGG)
    Starch and sucrose metabolism, conserved biosystem
    Starch and sucrose metabolism
  • glycogen biosynthesis, organism-specific biosystem (from BIOCYC)
    glycogen biosynthesis, organism-specific biosystemGeneral Background : Glycogens "Glycogen" is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages between the glucose un...
  • glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystem (from BIOCYC)
    glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystemGeneral Background Glycogen is a highly branched glucose polymer that serves as a form of energy storage in animals and fungi. It resembles plant-produced |FRAME: Starch starch| and is sometimes cal...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
glycogenin glucosyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycogen biosynthetic process TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
glycogenin-1
Names
GN-1
glycogenin glucosyltransferase
NP_001171649.1
NP_001171650.1
NP_004121.2
XP_016861764.1
XP_016861765.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027677.1 RefSeqGene

    Range
    5001..41262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184720.1NP_001171649.1  glycogenin-1 isoform 2

    See identical proteins and their annotated locations for NP_001171649.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment in the C-terminal region, as compared to isoform 1.
    Source sequence(s)
    AA191440, BC000033, BG702275, U31525
    Consensus CDS
    CCDS54654.1
    UniProtKB/Swiss-Prot
    P46976
    Related
    ENSP00000296048.6, ENST00000296048.10
    Conserved Domains (2) summary
    cd02537
    Location:4254
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:92221
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  2. NM_001184721.1NP_001171650.1  glycogenin-1 isoform 3

    See identical proteins and their annotated locations for NP_001171650.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive exons in the 3' CDS, as compared to variant 1. The resulting isoform (3) is shorter and has a different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AA191440, BG702275, X79537
    Consensus CDS
    CCDS54655.1
    UniProtKB/Swiss-Prot
    P46976
    Related
    ENSP00000420683.1, ENST00000484197.5
    Conserved Domains (1) summary
    cd02537
    Location:4201
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
  3. NM_004130.3NP_004121.2  glycogenin-1 isoform 1

    See identical proteins and their annotated locations for NP_004121.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA191440, AF087942, BG702275
    Consensus CDS
    CCDS3139.1
    UniProtKB/Swiss-Prot
    P46976
    Related
    ENSP00000340736.4, ENST00000345003.8
    Conserved Domains (2) summary
    cd02537
    Location:4254
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:92221
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    148991408..149027669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006275.1XP_016861764.1  glycogenin-1 isoform X1

  2. XM_017006276.1XP_016861765.1  glycogenin-1 isoform X2

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