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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]
GYG1 (Glycogenin 1) is a Protein Coding gene. Diseases associated with GYG1 include Glycogen Storage Disease Xv and Polyglucosan Body Myopathy 2. Among its related pathways are Diseases of carbohydrate metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and glycogenin glucosyltransferase activity. An important paralog of this gene is GYG2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH03J148990 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 609.8 | +0.4 | 442 | 3.1 | CTCF PRDM10 ZNF692 POLR2A BACH1 LARP7 ZIC2 RBFOX2 ZNF24 PATZ1 | GYG1 lnc-GYG1-2 HLTF lnc-CPA3-2 | |
GH03J148991 | Promoter/Enhancer | 0.6 | Ensembl dbSUPER | 600.7 | -1.3 | -1307 | 0.2 | HLF | GYG1 lnc-GYG1-2 UBQLN4P1 CPA3 | |
GH03J149013 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 22.8 | +26.7 | 26673 | 8.6 | GATAD2A FOXA1 ZNF24 CEBPA SCRT2 SOX13 JUND CEBPB FOXA2 USF1 | GYG1 UBQLN4P1 HLTF piR-34822-233 lnc-CP-4 | |
GH03J149008 | Enhancer | 1.1 | Ensembl ENCODE dbSUPER | 10.6 | +19.2 | 19214 | 3.6 | GATAD2A TFE3 SOX13 CEBPA RUNX3 ZKSCAN8 FOXA2 KAT7 FOS GABPA | HLTF GYG1 piR-34822-233 piR-50443-272 lnc-CPA3-2 | |
GH03J148998 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 10.6 | +7.9 | 7892 | 3.8 | CEBPB ZNF316 MAFF TCF12 MAFK ELF1 CEBPG SPI1 SIN3A NANOG | HLTF GYG1 lnc-CPA3-2 piR-50443-272 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008466 | glycogenin glucosyltransferase activity | EXP,IDA | 22160680 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0030145 | manganese ion binding | IDA | 22160680 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005737 | cytoplasm | IBA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO:0034774 | secretory granule lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism | ||
2 | Diseases of carbohydrate metabolism | ||
3 | Innate Immune System |
.61
|
|
4 | Metabolism |
.40
|
|
5 | Glycogen storage disease type 0 (muscle GYS1) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005978 | glycogen biosynthetic process | TAS | -- |
GO:0043312 | neutrophil degranulation | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - |
ExUns: | 13b | · | 13c |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: | |||
SP10: | |||
SP11: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GYG1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GYG1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GYG1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gyg1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gyg 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GYG1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GYG1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GYG1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GYG1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gyg1 30 |
|
||
MGC76101 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398319 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gyg1b 30 31 |
|
OneToMany | |
gyg1a 31 |
|
OneToMany | |||
Dr.13604 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Glycogenin 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007724 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | gyg-2 31 |
|
ManyToMany | |
M116.2 31 |
|
ManyToMany | |||
gyg-1 31 |
|
ManyToMany | |||
T10B10.8 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GLG2 31 |
|
ManyToMany | |
GLG1 31 33 |
|
ManyToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06698 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642738 | Uncertain Significance: Glycogen storage disease XV; Polyglucosan body myopathy 2 | 149,024,106(+) | A/C | MISSENSE_VARIANT,INTRON_VARIANT | |
646200 | Uncertain Significance: Glycogen storage disease XV; Polyglucosan body myopathy 2; not provided | 148,996,862(+) | A/G | MISSENSE_VARIANT | |
649105 | Uncertain Significance: Glycogen storage disease XV; Polyglucosan body myopathy 2 | 149,026,763(+) | G/A | MISSENSE_VARIANT,SYNONYMOUS_VARIANT | |
666973 | Likely Pathogenic: Polyglucosan body myopathy 2 | 148,991,648(+) | G/A | SPLICE_DONOR_VARIANT | |
668680 | Likely Benign: not provided | 149,009,153(+) | C/T | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease xv |
|
|
polyglucosan body myopathy 2 |
|
|
glycogen storage disease |
|
|
myoclonic epilepsy of lafora |
|
|
glycogen storage disease type 0 |
|
|