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    GYG1 glycogenin 1 [ Homo sapiens ]

    Gene ID: 2992, updated on 11-May-2012
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    Summary

    Official Symbol
    GYG1provided by HGNC
    Official Full Name
    glycogenin 1provided by HGNC
    Primary source
    HGNC:4699
    See related
    Ensembl:ENSG00000163754; HPRD:06805; MIM:603942; Vega:OTTHUMG00000159533
    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]
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    Genomic context

    Location :
    3q24-q25.1
    Sequence :
    Chromosome: 3; NC_000003.11 (148709195..148745456)
    See GYG1 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene carboxypeptidase A3 (mast cell) Neighboring gene ubiquilin 4 pseudogene 1 Neighboring gene helicase-like transcription factor Neighboring gene Hermansky-Pudlak syndrome 3 Neighboring gene ceruloplasmin (ferroxidase)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. Network organization of the human autophagy system. Behrends C, et al. Nature, 2010 Jul 1. PMID 20562859.
    4. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. Moslemi AR, et al. N Engl J Med, 2010 Apr 1. PMID 20357282.
    5. Glycogenin protein and mRNA expression in response to changing glycogen concentration in exercise and recovery. Wilson RJ, et al. Am J Physiol Endocrinol Metab, 2007 Jun. PMID 17311895.

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. during recovery from prolonged exhaustive exercise, glycogenin mRNA and protein content and activity increase in muscle
      Title: Increases in glycogenin and glycogenin mRNA accompany glycogen resynthesis in human skeletal muscle.
    2. GN-1 is conserved, possibly as very small, or nascent, granules when glycogen concentration is low. This would provide the ability to rapidly restore glycogen during early recovery.
      Title: Glycogenin protein and mRNA expression in response to changing glycogen concentration in exercise and recovery.
    3. Results show that glycogenin becomes inactivated with glycogen catabolism and that this event coincides with an increase in glycogenin gene expression as exercise and glycogenolysis progress.
      Title: Glycogenin activity and mRNA expression in response to volitional exhaustion in human skeletal muscle.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Glycogen storage disease XV

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P46976 O15488 GYG2    HPRD  PubMed  
    P46976 P13807 GYS1    HPRD  PubMed  
    P46976 Q9Y2N3 POM121    HPRD  PubMed  
    P46976 Q9C029 TRIM7    HPRD  PubMed  
    BioGRID:109247 BioGRID:114422 GYG2    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Reconstituted Complex 
    BioGRID:109247 BioGRID:109252 GYS1    BioGRID  PubMed Two-hybrid 
    BioGRID:109247 BioGRID:115214 POM121    BioGRID  PubMed Two-hybrid 
    BioGRID:109247 BioGRID:111550 PRKAA2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109247 BioGRID:111552 PRKAB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109247 BioGRID:123579 TRIM7    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Two-hybrid 
    BioGRID:109247 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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 musle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to mainta...
    • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
      Glycogen breakdown (glycogenolysis), organism-specific biosystemGlycogen 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 for liver...
    • 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...
    • Insulin Signaling, organism-specific biosystem (from WikiPathways)
      Insulin Signaling, organism-specific biosystem
      Insulin Signaling
    • 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...
    • glycogen biosynthesis II (from UDP-D-Glucose), organism-specific biosystem (from BIOCYC)
      glycogen biosynthesis II (from UDP-D-Glucose), organism-specific biosystemGeneral Background : 6-alpha-D--1-4-alpha-D-Glucano--Glucan is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages betw...
    • glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystem (from BIOCYC)
      glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystemGeneral Background |FRAME: Glycogens Glycogen| and |FRAME: Starch|, megadalton-sized glucose polymers, are the major reservoir of readily available energy and carbon compounds in most living organis...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucose binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    glycogenin glucosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    transferase activity, transferring glycosyl groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    glucose metabolic process TAS
    Traceable Author Statement
    more info
    		  
    glycogen biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    glycogen catabolic process TAS
    Traceable Author Statement
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    soluble fraction IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    glycogenin-1
    Names
    glycogenin-1
    GN-1
    NP_001171649.1
    NP_001171650.1
    NP_004121.2
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    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_001184720.1 → NP_001171649.1  glycogenin-1 isoform 2

      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, OTTHUMP00000215732, ENST00000296048, OTTHUMT00000356047
      Conserved Domains (2) summary
      cd02537
      Location:4 – 254
      Blast Score: 818
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen.
      pfam01501
      Location:6 – 223
      Blast Score: 471
      Glyco_transf_8; Glycosyl transferase family 8

    2. NM_001184721.1 → NP_001171650.1  glycogenin-1 isoform 3

      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/TrEMBL
      D3DNH0
      UniProtKB/Swiss-Prot
      P46976
      Related
      ENSP00000420683, OTTHUMP00000215734, ENST00000484197, OTTHUMT00000356049
      Conserved Domains (1) summary
      cd02537
      Location:4 – 188
      Blast Score: 716
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen.

    3. NM_004130.3 → NP_004121.2  glycogenin-1 isoform 1

      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, OTTHUMP00000215731, ENST00000345003, OTTHUMT00000356046
      Conserved Domains (2) summary
      cd02537
      Location:4 – 254
      Blast Score: 818
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen.
      pfam01501
      Location:6 – 223
      Blast Score: 471
      Glyco_transf_8; Glycosyl transferase family 8

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      148709195..148745456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      146081276..146117422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC021059.25 (22888..58932) None
    genomic AF065481.1 AAD31084.1
    genomic CH471052.2 EAW78894.1
      EAW78895.1
      EAW78896.1
      EAW78897.1
      EAW78898.1
      EAW78899.1
      EAW78900.1
      EAW78901.1
    mRNA AA191440.1 None
    mRNA AF087942.1 AAD52093.1
    mRNA AK299962.1 BAG61788.1
    mRNA AK312283.1 BAG35212.1
    mRNA BC000033.2 AAH00033.1
    mRNA BC031096.2 AAH31096.2
    mRNA BG702275.1 None
    mRNA CR536547.1 CAG38784.1
    mRNA U31525.1 AAB09752.1
    mRNA U44131.1 AAB00114.1
    mRNA X79537.1 CAA56073.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P46976.4 GenPept UniProtKB/Swiss-Prot:P46976
    Q8N5Y3 GenPept UniProtKB/TrEMBL:Q8N5Y3
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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