Property Summary

NCBI Gene PubMed Count 27
Grant Count 22
R01 Count 18
Funding $2,792,010.97
PubMed Score 61.86
PubTator Score 41.32

Knowledge Summary

Patent

No data available

Expression

Gene RIF (7)

PMID Text
26652229 This study found a single homozygous intronic mutation of GYG1 harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages.
25272951 Depletion of glycogenin-1 and impaired interaction with glycogen synthase underlies a new form of glycogen storage disease.
24239874 The glucosylation of glycogenin-2 was enhanced to 2-4 glucose units by the co-presence of enzymatically active glycogenin-1.
22198226 results explain the glycogen depletion in the patient expressing only Thr83Met glycogenin-1 and why heterozygous carriers without clinical symptoms show a small proportion of unglucosylated glycogenin-1
17311895 GN-1 is conserved, possibly as very small, or nascent, granules when glycogen concentration is low. This would provide the ability to rapidly restore glycogen during early recovery.
15870102 during recovery from prolonged exhaustive exercise, glycogenin mRNA and protein content and activity increase in muscle
15860684 Results show that glycogenin becomes inactivated with glycogen catabolism and that this event coincides with an increase in glycogenin gene expression as exercise and glycogenolysis progress.

AA Sequence

MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSA      1 - 70
HLTLMKRPELGVTLTKLHCWSLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQ     71 - 140
PSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPAFKVFGASAKV    141 - 210
VHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDL    211 - 280
VYTLAFSCGFCRKEDVSGAISHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ    281 - 350
//

Text Mined References (31)

PMID Year Title
26652229 2016 Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
25416956 2014 A proteome-scale map of the human interactome network.
25272951 2014 A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
24239874 2014 LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22198226 2012 Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.
21269460 2011 Initial characterization of the human central proteome.
20357282 2010 Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
19946888 2010 Defining the membrane proteome of NK cells.
More...