PRKAG3 (protein kinase AMP-activated non-catalytic subunit gamma 3)

2007-04-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
AMPKG3,SMGMQTL

Other Information

Locus ID:

NCBI: 53632
MIM: 604976
HGNC: 9387
Ensembl: ENSG00000115592

Variants:

dbSNP: 53632
ClinVar: 53632
TCGA: ENSG00000115592
COSMIC: PRKAG3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115592ENST00000233944Q9UGI9
ENSG00000115592ENST00000233944A0A024R426
ENSG00000115592ENST00000430489C9JIC7
ENSG00000115592ENST00000439262Q9UGI9
ENSG00000115592ENST00000439262A0A024R426
ENSG00000115592ENST00000470307B4DUK8
ENSG00000115592ENST00000529249Q9UGI9
ENSG00000115592ENST00000529249A0A024R426

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Circadian rhythmKEGGko04710
Insulin signaling pathwayKEGGko04910
Adipocytokine signaling pathwayKEGGko04920
Tight junctionKEGGhsa04530
Circadian rhythmKEGGhsa04710
Insulin signaling pathwayKEGGhsa04910
Adipocytokine signaling pathwayKEGGhsa04920
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
FoxO signaling pathwayKEGGhsa04068
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Activation of PPARGC1A (PGC-1alpha) by phosphorylationREACTOMER-HSA-2151209
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
PI3K CascadeREACTOMER-HSA-109704
PKB-mediated eventsREACTOMER-HSA-109703
mTOR signallingREACTOMER-HSA-165159
Energy dependent regulation of mTOR by LKB1-AMPKREACTOMER-HSA-380972
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852
Insulin resistanceKEGGhsa04931
Longevity regulating pathwayKEGGhsa04211
Longevity regulating pathway - multiple speciesKEGGko04213
Longevity regulating pathway - multiple speciesKEGGhsa04213
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through PhosphorylationREACTOMER-HSA-6804756
Apelin signaling pathwayKEGGhsa04371

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134983031GPAMGenePathwayassociated22722338
PA142672073CRTC2GenePathwayassociated22722338
PA189HMGCRGenePathwayassociated22722338
PA24421ACACAGenePathwayassociated22722338
PA24422ACACBGenePathwayassociated22722338
PA30861MLYCDGenePathwayassociated22722338
PA335SREBF1GenePathwayassociated22722338
PA35879SLC2A4GenePathwayassociated22722338
PA36198STK11GenePathwayassociated22722338
PA37353MLXIPLGenePathwayassociated22722338
PA37935SIRT1GenePathwayassociated22722338
PA450395metforminChemicalPathwayassociated22722338
PA61ATMGenePathwayassociated22722338

References

Pubmed IDYearTitleCitations
108180012000A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle.119
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
145597192004Expression profiling of the gamma-subunit isoforms of AMP-activated protein kinase suggests a major role for gamma3 in white skeletal muscle.39
178789382007Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.22
163063652005Changes in exercise-induced gene expression in 5'-AMP-activated protein kinase gamma3-null and gamma3 R225Q transgenic mice.17
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
189961022009Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.11
204734792010Naturally occurring R225W mutation of the gene encoding AMP-activated protein kinase (AMPK)gamma(3) results in increased oxidative capacity and glucose uptake in human primary myotubes.8
233969622013Association of AMP-activated protein kinase with risk and progression of non-Hodgkin lymphoma.8

Citation

Dessen P

PRKAG3 (protein kinase AMP-activated non-catalytic subunit gamma 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46886/prkag3