InnateDB Protein
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IDBP-60432.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GYG1
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Protein Name
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glycogenin 1
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Synonyms
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GSD15; GYG;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000340736
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InnateDB Gene
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IDBG-60430 (GYG1)
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Protein Structure
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Function |
Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
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Subcellular Localization |
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Disease Associations |
Glycogen storage disease 15 (GSD15) [MIM:613507]: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. {ECO:0000269PubMed:20357282}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
15
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002495
Glycosyl transferase, family 8
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF01501
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P46976
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PhosphoSite |
PhosphoSite-P46976
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TrEMBL |
C9J8R8
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UniProt Splice Variant |
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Entrez Gene |
2992
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UniGene |
Hs.727448
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RefSeq |
NP_004121
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HUGO |
HGNC:4699
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OMIM |
603942
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CCDS |
CCDS3139
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HPRD |
06805
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IMGT |
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EMBL |
AC021059
AF065476
AF065477
AF065478
AF065479
AF065480
AF065481
AF087942
BC000033
CH471052
CR536547
U31525
U44131
X79537
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GenPept |
AAB00114
AAB09752
AAD31084
AAD52093
AAH00033
CAA56073
CAG38784
EAW78894
EAW78895
EAW78896
EAW78898
EAW78900
EAW78901
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