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    Gyg1 glycogenin 1 [ Mus musculus (house mouse) ]

    Gene ID: 27357, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gyg1provided by MGI
    Official Full Name
    glycogenin 1provided by MGI
    Primary source
    MGI:MGI:1351614
    See related
    Ensembl:ENSMUSG00000019528 AllianceGenome:MGI:1351614
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GN1; Gyg
    Summary
    Enables glycogenin glucosyltransferase activity. Involved in glycogen biosynthetic process. Predicted to be active in cytoplasm. Is expressed in several structures, including cardiovascular system; genitourinary system; gut; nervous system; and respiratory system. Used to study glycogen storage disease XV. Human ortholog(s) of this gene implicated in glycogen storage disease and glycogen storage disease XV. Orthologous to human GYG1 (glycogenin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 43.0), lung adult (RPKM 28.8) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gyg1 in Genome Data Viewer
    Location:
    3 A2; 3 6.19 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (20176248..20209228, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (20122083..20155117, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene ceruloplasmin Neighboring gene STARR-seq mESC enhancer starr_07104 Neighboring gene STARR-seq mESC enhancer starr_07105 Neighboring gene HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 Neighboring gene STARR-positive B cell enhancer ABC_E3428 Neighboring gene STARR-seq mESC enhancer starr_07106 Neighboring gene STARR-seq mESC enhancer starr_07107 Neighboring gene STARR-positive B cell enhancer ABC_E1018 Neighboring gene helicase-like transcription factor Neighboring gene STARR-seq mESC enhancer starr_07108 Neighboring gene VISTA enhancer mm86 Neighboring gene STARR-seq mESC enhancer starr_07112 Neighboring gene STARR-seq mESC enhancer starr_07113 Neighboring gene predicted gene, 31320 Neighboring gene microRNA 7007 Neighboring gene carboxypeptidase A3, mast cell Neighboring gene ribosomal protein S2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Molecular analysis of skewed Tcra-V gene use in T-cell receptor beta-chain transgenic mice. Burns RP Jr, et al. Immunogenetics, 1998. PMID 9396856
    2. Characterization of mouse glycogenin-1 cDNA and promoter region. van Maanen M, et al. Biochim Biophys Acta, 1999 Oct 28. PMID 10542328
    3. Glycogenin, proglycogen, and glycogen biogenesis: what's the story? Katz A. Am J Physiol Endocrinol Metab, 2006 Apr. PMID 16533952
    4. Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II. Douillard-Guilloux G, et al. Hum Mol Genet, 2008 Dec 15. PMID 18782850
    5. Getting a handle on glycogen synthase - Its interaction with glycogenin. Zeqiraj E, et al. Mol Aspects Med, 2015 Dec. PMID 26278983, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
      Title: Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
    2. Glycogenin depletion causes high glycogen accumulation in striated muscles. Glycogenin depletion alters skeletal muscle functionality. Over - accumulation of skeletal muscle glycogen affects oxidative metabolism.
      Title: Lack of Glycogenin Causes Glycogen Accumulation and Muscle Function Impairment.
    3. Injection of recombinant adeno-associated virus-1 vector expressing glycogen synthase short hairpin ribonucleic acids into mice with type II glycogen storage disease leads to significant reduction in impaired glycogen accumulation.
      Title: Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables D-glucose binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glycogenin glucosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables glycogenin glucosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glycogenin glucosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables manganese ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in glycogen biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycogen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycogen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycogen biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glycogenin-1
    Names
    glycogenin
    NP_001342190.1
    NP_001398101.1
    NP_001398102.1
    NP_001398103.1
    NP_001398104.1
    NP_001398105.1
    NP_038783.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001355261.2 → NP_001342190.1  glycogenin-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC158937
      UniProtKB/TrEMBL
      V9GX26
      Related
      ENSMUSP00000138949.2, ENSMUST00000184552.2
      Conserved Domains (1) summary
      cd02537
      Location:4 → 254
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen

    2. NM_001411172.1 → NP_001398101.1  glycogenin-1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC158937

    3. NM_001411173.1 → NP_001398102.1  glycogenin-1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC158937

    4. NM_001411174.1 → NP_001398103.1  glycogenin-1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC158937

    5. NM_001411175.1 → NP_001398104.1  glycogenin-1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC158937

    6. NM_001411176.1 → NP_001398105.1  glycogenin-1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC158937

    7. NM_013755.5 → NP_038783.1  glycogenin-1 isoform 2

      See identical proteins and their annotated locations for NP_038783.1

      Status: VALIDATED

      Source sequence(s)
      AC158937
      Consensus CDS
      CCDS50873.1
      UniProtKB/Swiss-Prot
      Q3TWR9, Q9R062
      UniProtKB/TrEMBL
      V9GX26
      Related
      ENSMUSP00000136035.2, ENSMUST00000178328.8
      Conserved Domains (2) summary
      cd02537
      Location:4 → 254
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:92 → 221
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      20176248..20209228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R062.3 GenPept UniProtKB/Swiss-Prot:Q9R062

    Gene LinkOut

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

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