InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GYG1

Summary

InnateDB Gene

IDBG-60430.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GYG1

Gene Name

glycogenin 1

Synonyms

GSD15; GYG

Species

Homo sapiens

Ensembl Gene

ENSG00000163754

Encoded Proteins

IDBP-60432

glycogenin 1

IDBP-60434

glycogenin 1

IDBP-481912

glycogenin 1

IDBP-485311

glycogenin 1

IDBP-476987

glycogenin 1

IDBP-475116

glycogenin 1

IDBP-480795

glycogenin 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:148991341-149027632

Strand

Forward strand

Band

q24

Transcripts

ENST00000345003	ENSP00000340736
ENST00000296048	ENSP00000296048
ENST00000483267	ENSP00000419499
ENST00000478067
ENST00000484197	ENSP00000420683
ENST00000492285	ENSP00000418297
ENST00000461191	ENSP00000420247
ENST00000473005	ENSP00000417671
ENST00000465547
ENST00000497528
ENST00000488851
ENST00000479119
ENST00000469873

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005536	glucose binding
GO:0008466	glycogenin glucosyltransferase activity
GO:0016757	transferase activity, transferring glycosyl groups
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0005978	glycogen biosynthetic process
GO:0005980	glycogen catabolic process
GO:0006006	glucose metabolic process
GO:0008152	metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005829	cytosol
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000019528

View Gene Order

ENSBTAG00000001721

Not yet available

Pathways

NETPATH

REACTOME

REACT_1008

Glycogen breakdown (glycogenolysis) pathway

REACT_200783

Myoclonic epilepsy of Lafora pathway

REACT_169208

Glycogen synthesis pathway

REACT_474

Metabolism of carbohydrates pathway

REACT_111217

Metabolism pathway

REACT_116125

Disease pathway

REACT_723

Glucose metabolism pathway

REACT_200833

Glycogen storage diseases pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.477892 Hs.600601 Hs.727448

RefSeq

NM_001184720 NM_001184721 NM_004130

HUGO

OMIM

CCDS

CCDS3139 CCDS54654 CCDS54655

HPRD

06805

IMGT

EMBL

GenPept

RNA Seq Atlas