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FLASH GENE
Symbol RPS6KB1 contributors: mct - updated : 26-04-2015
HGNC name ribosomal protein S6 kinase, 70kDa, polypeptide 1
HGNC id 10436
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       gain of function
contributes at least in part to the pathogenesis of obesity-induced hepatic steatosis and hypertriglyceridemia
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
diabetetype 2 
PF-4708671, a novel and highly specific inhibitor of RPS6K1B proposed as a strategy for the treatment of insulin resistance
cancer  
PF-4708671, a novel and highly specific inhibitor of RPS6K1B proposed as a strategy for the treatment of cancer
metabolismlipid 
agents that specifically inhibit hepatic S6K1 activity might be potential drugs for the treatment of hypertriglyceridemia as well as hepatic steatosis
ANIMAL & CELL MODELS
  • homozygous disruption of the Rps6kb1 gene does not affect viability or fertility of mice, but that it has a significant effect on animal growth, especially during embryogenesis
  • S6K1(-/-) mice are significantly smaller and S6K1(-/-)/S6K2(-/-) mice show a sharp reduction in viability due to perinatal lethality
  • mice deficient for S6 Kinase 1 are hypoinsulinaemic, glucose intolerant and have reduced beta-cell mass but S6K1-deficient mice are protected against obesity owing to enhanced beta-oxidation
  • mice deleted for S6K1 have increased life span and are resistance to age-related pathologies