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FLASH GENE
Symbol AKT1S1 contributors: mct - updated : 04-06-2012
HGNC name AKT1 substrate 1 (proline-rich)
HGNC id 28426
Location 19q13.33      Physical location : 50.372.298 - 50.380.644
Synonym name
  • nuclear pore glycoprotein p62 (62 kDa nucleoporin)
  • proline-rich Akt substrate, 40 kDa
  • Synonym symbol(s) Lobe, PRAS40, MGC2865
    DNA
    TYPE functioning gene
    STRUCTURE 8.35 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 2389 27 256 - 2007 18030348
    also called variant 1
    5 splicing 2033 27 256 - 2007 18030348
  • also called variant 2
  • differs in the 5'UTR as copared to variant 1
  • encoding the same protein as variant 1
  • 5 splicing 1789 27 256 - 2007 18030348
  • alsso called variant 3
  • differs in the 5'UTR as copared to variant 1
  • encoding the same protein as variant 1
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine   
     liver    
    Reproductivefemale systemuteruscervix  
     male systemprostate   
    Skin/Tegumentskin   highly
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines expressed at higher levels il cancer cell lines than in normal cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-terminal proline-rich regions
  • a C-terminal AKT phosphorylation site
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Akt1s1 (93.4pc)
    Homologene
    FAMILY
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • oxidoreductase activity
  • regulating mTORC1 kinase activity by functioning as a direct inhibitor of substrate binding
  • regulating insulin-sensitivity of the Akt-mTOR pathway
  • inhibiting cell growth, S6K1 phosphorylation and rheb-induced activation of the mTORC1 pathway
  • potential target for the treatment of cancers, insulin resistance and hamartoma syndromes
  • may be involved in neuroprotection
  • potentially mediates apoptosis independently of its inhibitory effect on MTOR
  • not involved in controlling MTOR, but rather is a downstream target of MTOR that is regulated in response only to specific stimuli, such as insulin)
  • having ability to regulate the mammalian target of rapamycin complex 1 (MTOR) kinase activity, possessing a key regulatory role at the cross point of signal transduction pathways activated by growth factor receptors
  • promotes the development of Ewing sarcoma family tumors
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to the MTOR (mammalian target of rapamycin complex 1) and is released in response to insulin
  • binds MTOR via Raptor, and is an MTOR phosphorylation substrate
  • MTOR binding protein that has complex effects on cell metabolism
  • when DYRK3 is active, it allows stress granule dissolution, releasing MTOR for signaling and promoting its activity by directly phosphorylating the MTOR inhibitor AKT1S1
  • MTOR activation by RHEB and inhibition by AKT1S1
  • cell & other
    REGULATION
    inhibited by EWSR1 (negatively regulates AKT1S1 expression by binding the 3prime untranslated region in AKT1S1 mRNA)
    Phosphorylated by AKT and MTOR, whiuch disrupts the binding between MTOR and AKT1S1, and relieves the inhibitory constraint of AKT1S1 on MTOR activity
    Other modulated by oxidative stress
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    high glucose-induced phosphorylation and inactivation of AKT1S1 is a central node for mesangial cell hypertrophy in diabetic nephropathy
    constitutional     --low  
    specifically impairs myoblast protein synthesis, cell cycle, proliferation and differentiation to myotubes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    might therefore represent a novel therapeutic target in Ewing sarcoma
    ANIMAL & CELL MODELS