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GYG1 glycogenin 1 [ Homo sapiens (human) ]

Gene ID: 2992, updated on 18-Aug-2020

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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (148991515..149031775)
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 Neighboring gene HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 Neighboring gene ceruloplasmin

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycogen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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_001184720.2NP_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, AC021059, BC000033, 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_001184721.2NP_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, AC021059, 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_004130.4NP_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, AC021059, 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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    148991515..149031775
    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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