• Gene id: 2992

Gene Summary

• Gene Symbol: GYG1   Gene   UCSC   Ensembl
• Aliases: GSD15, GYG
• Gene name: glycogenin 1
• Alternate names: glycogenin-1, GN-1, glycogenin glucosyltransferase,
• Gene location: 3q24 (148991407: 149031774)     Exons: 10     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 603942

Protein Summary

• Protein general information: P46976  
  • Name: Glycogenin 1 (GN 1) (GN1) (EC 2.4.1.186)
  • Length: 350  
  • Mass: 39384
  • Tissue specificity: Highly expressed in skeletal muscle and heart, with lower levels in brain, lung, kidney and pancreas. {ECO
• Sequence:

  MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLM
  KRPELGVTLTKLHCWSLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLL
  HLASEQGSFDGGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKPWNYTYD
  PKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAI
  SHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ

• Structural information:
  • Interpro: IPR002495  IPR029044  
  • PDB: 3Q4S 3QVB 3RMV 3RMW 3T7M 3T7N 3T7O 3U2T 3U2U 3U2V 3U2W 3U2X 6EQJ 6EQL
  • PDBsum: 3Q4S 3QVB 3RMV 3RMW 3T7M 3T7N 3T7O 3U2T 3U2U 3U2V 3U2W 3U2X 6EQJ 6EQL
  • STRING: ENSP00000340736
• Other Databases: GeneCards:  GYG1  Malacards:  GYG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005978	glycogen biosynthetic process	IBA	biological process
GO:0008466	glycogenin glucosyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0102751	UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0102751	UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0008466	glycogenin glucosyltransferase activity	IDA	molecular function
GO:0008466	glycogenin glucosyltransferase activity	IDA	molecular function
GO:0005978	glycogen biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0102751	UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity	IEA	molecular function
GO:0008466	glycogenin glucosyltransferase activity	IEA	molecular function
GO:0008466	glycogenin glucosyltransferase activity	EXP	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005978	glycogen biosynthetic process	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00500	Starch and sucrose metabolism

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type XV	KEGG:H01955
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type XV	KEGG:H01955
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray