Property Summary

NCBI Gene PubMed Count 50
PubMed Score 0.00
PubTator Score 83.35

Knowledge Summary

Patent

No data available

Synonym

Accession O43826 O96016 Q5J7V4 Q9UI19 Q9UNS4
Symbols G6PT1
G6PT2
G6PT3
GSD1b
GSD1c
GSD1d
TRG19
TRG-19
PRO0685

Gene

PANTHER Protein Class (2)

Gene RIF (14)

PMID Text
25982172 Data suggest that G6PT modulates autophagy independent of its transport activity; G6PT appears to up-regulate autophagy via inactivation of mTORC1; knockdown of G6PT expression activates mTORC1 (mechanistic target of rapamycin complex 1) activity.
23965881 Five SLC37A4 gene mutations were detected in 7 (25%) of the 28 children
21575371 A total of 11 SLC37A4 gene mutations were identified in 15 families of the mainland of China. The frequent mutations are p.Pro191Leu, p.Gly149Glu and c.870 + 5G > A.
21446359 Two novel mutations were identified in these samples: one had a novel mutation (25C>T); the remaining sample carried a 49 bp deletion in intron 12.
20578944 Our results suggest that in Sardinia, Glycogen storage disease Ib is caused by only one mutational event in the G6PT gene, further suggesting that Sardinia is a founder population.
19008136 Human G6PT contains 10-transmembrane helices and is more probable than the bacterial Uhp that contains 12-transmembrane helices.
18267120 Targeted inhibition of either MT1-MMP or G6PT may lead to reduced infiltrative and invasive properties of brain tumor cells.
17460777 A molecular signaling axis regulates the invasive phenotype of brain tumor cells and highlights a new bioswitch function for glucose-6-phosphate transporter (G6PT) in cell survival.
17354259 Observational study of gene-disease association. (HuGE Navigator)
17354259 A novel G6PT1 promoter polymorphism, 259C --> T was found; the - 259*T allele frequency was greater in term SIDS infants than in term control infants and preterm SIDS infants
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AA Sequence

MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVL      1 - 70
SDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAI     71 - 140
LSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVSFLCLLLIHNEPADVGLRNLDPMPSEGKKGS    141 - 210
LKEESTLQELLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAA    211 - 280
GYLSDRAMAKAGLSNYGNPRHGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFG    281 - 350
VIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTK    351 - 420
MGRVSKKAE                                                                 421 - 429
//

Text Mined References (52)

PMID Year Title
25982172 2015 Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step.
23965881 2013 [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21949678 2011 SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate antiporters.
21629566 2011 A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.
21575371 2011 [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
21446359 2010 Two new variants of G6PD deficiencies in Singapore.
20578944 2010 Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect.
19946888 2010 Defining the membrane proteome of NK cells.
19579760 2009 Glycogen storage disease type Ib: the first case in Taiwan.
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