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AKT1S1 Gene

protein-coding   GIFtS: 59
GCID: GC19M050372

AKT1 Substrate 1 (Proline-Rich)

  Search for AKT1S1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
AKT1 Substrate 1 (Proline-Rich)1 2     Proline-Rich Akt Substrate1
40 KDa Proline-Rich AKT Substrate2 3     Lobe2
PRAS402 3     Proline-Rich AKT1 Substrate 12
40 KDa1     

External Ids:    HGNC: 284261   Entrez Gene: 843352   Ensembl: ENSG000002046737   OMIM: 6102215   UniProtKB: Q96B363   

Export aliases for AKT1S1 gene to outside databases

Previous GC identifers: GC19M055067 GC19M055071 GC19M055073 GC19M046748


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AKT1S1 Gene:
AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when
phosphorylated (Kovacina et al., 2003 (PubMed 12524439)).(supplied by OMIM, Mar 2008)

GeneCards Summary for AKT1S1 Gene:
AKT1S1 (AKT1 substrate 1 (proline-rich)) is a protein-coding gene.

UniProtKB/Swiss-Prot: AKTS1_HUMAN, Q96B36
Function: Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal
signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1
activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB
GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its
relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1
up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis.
mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E).
mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating
PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that
is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1
activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May
also play a role in nerve growth factor-mediated neuroprotection

Gene Wiki entry for AKT1S1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AKT1S1 gene promoter:
         SRY   Sp1   p300   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKT1S1 promoter sequence
   Search Chromatin IP Primers for AKT1S1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKT1S1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

AKT1S1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKT1S1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M050372:  view genomic region     (about GC identifiers)

Start:
50,372,295 bp from pter      End:
50,381,716 bp from pter
Size:
9,422 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AKTS1_HUMAN, Q96B36 (See protein sequence)
Recommended Name: Proline-rich AKT1 substrate 1  
Size: 256 amino acids; 27383 Da
Subunit: Part of the mammalian target of rapamycin complex 1 (mTORC1) which contains MTOR, MLST8, RPTOR,
AKT1S1/PRAS40 and DEPTOR. mTORC1 binds to and is inhibited by FKBP12-rapamycin. Interacts directly with RPTOR.
The phosphorylated form interacts with 14-3-3 proteins
Sequence caution: Sequence=AAH00031.2; Type=Erroneous initiation;
Secondary accessions: A8MTQ1 B2RE93 J3KPM3 Q96BI4 Q96IK7 Q96NG2 Q9BWR5
Alternative splicing: 3 isoforms:  Q96B36-1   Q96B36-2   Q96B36-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AKT1S1: NX_Q96B36

Explore proteomics data for AKT1S1 at MOPED

Post-translational modifications: 

  • Phosphorylated by AKT1. Phosphorylation relieves inhibitory function on mTORC11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AKT1S1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001092102.1  NP_001092103.1  NP_001265088.1  NP_001265089.1  NP_115751.3  

    ENSEMBL proteins: 
     ENSP00000375709   ENSP00000375708   ENSP00000341698   ENSP00000375707   ENSP00000375711  
     ENSP00000375706   ENSP00000472839   ENSP00000375710  
    Reactome Protein details: Q96B36

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    Search eBioscience for ELISAs for AKT1S1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026682 AKT1S1

    Graphical View of Domain Structure for InterPro Entry Q96B36

    ProtoNet protein and cluster: Q96B36


    Find genes that share domains with AKT1S1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AKTS1_HUMAN, Q96B36
    Function: Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal
    signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1
    activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB
    GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its
    relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1
    up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis.
    mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E).
    mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating
    PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that
    is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1
    activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May
    also play a role in nerve growth factor-mediated neuroprotection

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12524439
         
    Find genes that share ontologies with AKT1S1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for AKT1S1:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

         1 MGI phenotypic allele for Akt1s1 (no phenotypes)

    Find genes that share phenotypes with AKT1S1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AKT1S1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AKT1S1

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    Selected qRT-PCR Assays for microRNAs that regulate AKT1S1 (see all 23):
    hsa-miR-3910 hsa-miR-142-3p hsa-miR-125a-5p hsa-miR-1224-3p hsa-miR-1908 hsa-miR-548a-3p hsa-miR-124 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidAKT1S1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AKTS1_HUMAN, Q96B36: Cytoplasm, cytosol (By similarity). Note=Found in the cytosolic fraction of the brain (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0031931colocalizes with TORC1 complex IDA17386266
    GO:0043234protein complex ----

    Find genes that share ontologies with AKT1S1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AKT1S1 About   (see all 17)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1PI-3K cascade
    PI3K/AKT activation0.93
    PI3K events in ERBB4 signaling0.88
    GAB1 signalosome0.93
    Role of LAT2/NTAL/LAB on calcium mobilization0.80
    Constitutive PI3K/AKT Signaling in Cancer0.88
    Signaling by SCF-KIT0.72
    PIP3 activates AKT signaling0.88
    Signaling by ERBB40.66
    2Signaling by FGFR
    Signaling by FGFR0.91
    DAP12 interactions0.89
    Signaling by FGFR in disease0.91
    Signaling by PDGF0.87
    Downstream signaling of activated FGFR0.91
    Signaling by EGFR0.83
    Downstream signal transduction0.90
    Signaling by EGFR in Cancer0.82
    3Downstream Signaling Events Of B Cell Receptor (BCR)
    Downstream Signaling Events Of B Cell Receptor (BCR)0.79
    Signaling by the B Cell Receptor (BCR)0.79
    4Akt Signaling
    Akt Signaling0.60
    5Nanog in Mammalian ESC Pluripotency
    14-3-3 Induced Intracellular Signaling0.59


    Find genes that share SuperPaths with AKT1S1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for AKT1S1
        Akt Signaling Pathway

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AKT1S1
        14-3-3 Induced Intracellular Signaling
    Akt Signaling

    2 Cell Signaling Technology (CST) Pathways for AKT1S1
        Translational Control
    PI3K / Akt Signaling

    5 BioSystems Pathways for AKT1S1
        TOR signaling
    Senescence and Autophagy
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    mTOR signaling pathway
    LKB1 signaling events


    3 Reactome Pathways for AKT1S1
        AKT phosphorylates targets in the cytosol
    HSF1-dependent transactivation
    Constitutive PI3K/AKT Signaling in Cancer


    1 Kegg Pathway  (Kegg details for AKT1S1):
        mTOR signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AKT1S1: 
              mTOR Signaling in human mouse rat
              Multiple Sclerosis in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AKT1S1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for AKT1S1 (Q96B361, 2, 3 ENSP000003416984) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-8008331 I2D: score=1 STRING: ENSP00000300161
    YWHAHQ049171, 2, 3, ENSP000002489754EBI-720593,EBI-306940 MINT-8006296 I2D: score=2 STRING: ENSP00000248975
    RPS6KA5O755822, 3, ENSP000002619914MINT-8269571 I2D: score=2 STRING: ENSP00000261991
    YWHAZP631042, 3, ENSP000003095034MINT-3317888 I2D: score=2 STRING: ENSP00000309503
    TCEA2Q155603, ENSP000003435154I2D: score=5 STRING: ENSP00000343515
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006469negative regulation of protein kinase activity IDA17386266
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0008543fibroblast growth factor receptor signaling pathway TAS--
    GO:0032007negative regulation of TOR signaling IDA17386266
    GO:0038095Fc-epsilon receptor signaling pathway TAS--

    Find genes that share ontologies with AKT1S1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AKT1S1 (AKTS1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AKT1S1 gene (5 alternative transcripts): 
    NM_001098632.2  NM_001098633.3  NM_001278159.1  NM_001278160.1  NM_032375.5  

    Unigene Cluster for AKT1S1:

    AKT1 substrate 1 (proline-rich)
    Hs.515542  [show with all ESTs]
    Unigene Representative Sequence: BC022241
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391833 ENST00000391832 ENST00000344175 ENST00000391831 ENST00000391835(uc002pqn.4 uc002pqm.4)
    ENST00000391830 ENST00000599525 ENST00000482622 ENST00000391834(uc002pql.4)

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    Additional mRNA sequence: 

    AK055511.1 AK092610.1 AK123687.1 AK226004.1 AK316603.1 BC000031.2 BC007416.2 BC015562.1 
    BC016043.1 BC022241.1 BC051844.2 

    18 DOTS entries:

    DT.100701463  DT.95136694  DT.100878766  DT.97765189  DT.91756880  DT.91914533  DT.95245335  DT.97780687 
    DT.100878754  DT.95081511  DT.75107616  DT.121429460  DT.95136686  DT.100878747  DT.121429315  DT.121429347 
    DT.121429357  DT.40225168 

    Selected AceView cDNA sequences (see all 756):

    AX747627 NM_016553 CA867288 AU123489 NM_012346 AY358933 BU557259 AA481597 
    AI347223 AI864949 BU838108 CA422802 BM665309 BG911888 BQ778281 BU538291 
    CR604133 BQ019184 BQ924182 AI298744 CR606632 CR602166 AA435912 AI160518 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AKT1S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCGCGCTGG
    AKT1S1 Expression
    About this image


    AKT1S1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
    AKT1S1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKT1S1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515542

    UniProtKB/Swiss-Prot: AKTS1_HUMAN, Q96B36
    Tissue specificity: Widely expressed with highest levels of expression in liver and heart. Expressed at higher
    levels in cancer cell lines (e.g. A-549 and HeLa) than in normal cell lines (e.g. HEK293)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AKT1S1: 
              mTOR Signaling in human mouse rat
              Multiple Sclerosis in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for AKT1S1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akt1s11 , 5 AKT1 substrate 1 (proline-rich)1, 5 83.59(n)1
    90.23(a)1
      7 (28.94 cM)5
    676051  NM_026270.41  NP_080546.11 
     448489915 
    lizard
    (Anolis carolinensis)
    Reptilia AKT1S16
    AKT1 substrate 1 (proline-rich)
    55(a)
    1 ↔ 1
    AAWZ02036910(9590-16518)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.71772 Xenopus laevis transcribed sequence with weak similarity more 77.75(n)    BJ615479.1 
    zebrafish
    (Danio rerio)
    Actinopterygii akt1s16
    AKT1 substrate 1 (proline-rich)
    27(a)
    1 ↔ 1
    3(30341538-30351676) ENSDARG00000074667


    ENSEMBL Gene Tree for AKT1S1 (if available)
    TreeFam Gene Tree for AKT1S1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AKT1S1 (see all 186)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1425228151,2
    C--50372827(+) GGGATG/TGAGCC 5 -- ut310--------
    rs1892894071,2
    --50372866(+) TAGGCA/GGAAAA 5 -- ut310--------
    rs37454831,2
    C,F,H--50372867(+) AGGCGG/AAAAAC 5 -- ut31 ese38Minor allele frequency- A:0.01EA NA NS 2064
    rs1819912181,2
    --50372901(+) TTAGAA/TCTCAG 5 -- ut310--------
    rs1857935521,2
    --50373030(+) GGGGAC/TTGGCA 5 -- ut310--------
    rs1170540501,2
    C,F--50373081(+) GGTCCC/TGGATC 5 -- ut311Minor allele frequency- T:0.04EA 120
    rs37454841,2
    C,F,H--50373097(+) CAGATT/GAGCAG 5 -- ut31 ese311Minor allele frequency- G:0.01EA NA NS 2266
    rs3692897331,2
    C--50373177(+) CTTCAA/GTATTT 10 Y syn10--------
    rs1443961471,2
    --50373447(+) CCCTGA/CGATGC 5 -- int10--------
    rs1898881521,2
    --50373466(+) AGCAGC/TGCCCC 5 -- int10--------

    HapMap Linkage Disequilibrium report for AKT1S1 (50372295 - 50381716 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AKT1S1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718724CNV Deletion23290073
    esv2718725CNV Deletion23290073
    nsv912269CNV Loss21882294
    nsv912272CNV Loss21882294
    nsv138068CNV Loss16902084
    dgv54n68CNV Loss17160897
    nsv2519CNV Loss18451855
    dgv53n68CNV Loss17160897
    dgv3974n71CNV Loss21882294
    nsv524068CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AKT1S1
    DNA2.0 Custom Variant and Variant Library Synthesis for AKT1S1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610221    OMIM disorders: --


    Find genes that share disorders with AKT1S1           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: AKT1S1 (1 document)

    Export disorders for AKT1S1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AKT1S1 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with AKT1S1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a proline-rich Akt substrate as a 14-3-3 binding partner. (PubMed id 12524439)1, 2, 3 Kovacina K.S.... Roth R.A. (J. Biol. Chem. 2003)
    2. PRAS40 is an insulin-regulated inhibitor of the mTORC1 protein kinase. (PubMed id 17386266)1, 2 Sancak Y.... Sabatini D.M. (Mol. Cell 2007)
    3. Insulin signalling to mTOR mediated by the Akt/PKB substrate PRAS40. (PubMed id 17277771)1, 2 Vander Haar E.... Kim D.-H. (Nat. Cell Biol. 2007)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. Expression of proline-rich Akt-substrate PRAS40 in cell survival pathway and carcinogenesis. (PubMed id 16174443)1, 2 Huang B. and Porter G. (Acta Pharmacol. Sin. 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Proline-rich Akt substrate of 40-kDa contains a nuclear export signal. (PubMed id 23712034)1 Wiza C....Ouwens D.M. (Cell. Signal. 2013)
    9. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    10. 14-3-3 proteins sequester a pool of soluble TRIM32 ubiquitin ligase to repress autoubiquitylation and cytoplasmic body formation. (PubMed id 23444366)1 Ichimura T....Hachiya N. (J. Cell. Sci. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84335 HGNC: 28426 AceView: NUP62 Ensembl:ENSG00000204673 euGenes: HUgn84335
    ECgene: AKT1S1 Kegg: 84335 H-InvDB: AKT1S1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AKT1S1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AKT1S1 gene:
    Search GeneIP for patents involving AKT1S1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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