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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AKT1S1 Gene

protein-coding   GIFtS: 59
GCID: GC19M050372

AKT1 Substrate 1 (Proline-Rich)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with AKT1S1 include frontal sinusitis, and sinusitis, and among its related super-pathways are Signaling by FGFR and Constitutive PI3K/AKT Signaling in Cancer. GO annotations related to this gene include protein binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKT1S1 gene promoter:
         SRY   Sp1   p300   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm, cytosol (By similarity). Note=Found in the cytosolic fraction of the brain (By
similarity)
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:

  • UniProtKB: Phosphorylated by AKT1. Phosphorylation relieves inhibitory function on mTORC1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96B36

  • AKT1S1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKT1S1 Protein Expression
    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
    Human Recombinant Protein Products for AKT1S1: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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

    AKT1S1 for ontologies           About GeneDecksing



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

    Graphical View of Domain Structure for InterPro Entry Q96B36

    ProtoNet protein and cluster: Q96B36


    AKT1S1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12524439
         
    AKT1S1 for ontologies           About GeneDecksing


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

    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AKT1S1 About   (see all 19)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by FGFR
    Downstream signaling of activated FGFR0.92
    Downstream signal transduction0.90
    Signaling by FGFR0.92
    Signaling by PDGF0.85
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.84
    DAP12 signaling0.91
    Signaling by EGFR in Cancer0.83
    2PIP3 activates AKT signaling
    GAB1 signalosome0.93
    PI3K events in ERBB2 signaling0.88
    PI3K/AKT activation0.93
    PI3K events in ERBB4 signaling0.88
    PIP3 activates AKT signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    PI-3K cascade0.88
    Signaling by SCF-KIT0.72
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    Adaptive Immune System0.56
    4Signaling by the B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.81
    Downstream Signaling Events Of B Cell Receptor (BCR)0.81
    5Fc epsilon receptor (FCERI) signaling
    Fc epsilon receptor (FCERI) signaling0.69
    Role of LAT2/NTAL/LAB on calcium mobilization0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for AKT1S1
        Akt Signaling Pathway

    2 Downloadable PowerPoint Slides of QIAGEN 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
    mTOR signaling pathway
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    LKB1 signaling events


    5/32        Reactome Pathways for AKT1S1 (see all 32)
        Signaling by EGFR in Cancer
    Disease
    Signaling by ERBB2
    GAB1 signalosome
    PI3K/AKT activation


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


    AKT1S1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKT1S1

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

    5/22 Interacting proteins for AKT1S1 (Q96B362, 3 ENSP000003416984) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-8008331 I2D: score=1 STRING: ENSP00000300161
    YWHAHQ049172, 3, ENSP000002489754MINT-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): 5/10 biological process terms (GO ID links to tree view) (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 cascade IDA17386266
    GO:0038095Fc-epsilon receptor signaling pathway TAS--

    AKT1S1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AKT1S1 (AKTS1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 

    24/756 AceView cDNA sequences (see all 756):

    CR604133 AI621353 BF436037 BQ924182 AL548959 CA422802 BU557259 BQ898301 
    BQ879836 AI278991 BQ676208 CR602166 AI932615 BQ187828 AI306584 BG911888 
    BU151283 AI347223 BE790884 BE890106 NM_012346 AI139287 AI864949 AA948235 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AKT1S1 expression in normal human tissues (normalized intensities)      AKT1S1 embryonic expression: see
    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 
     5/2 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

    See AKT1S1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKT1S1

    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)

        SABiosciences Expression via Pathway-Focused PCR Arrays including AKT1S1: 
              mTOR Signaling in human mouse rat
              Multiple Sclerosis in human mouse rat
              Apoptosis 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKT1S1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for AKT1S1 gene from 4/10 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 85.42(n)1
    93.75(a)1
      7 (28.94 cM)5
    676051  NM_001253920.11  NP_001240849.11 
     448489915 
    lizard
    (Anolis carolinensis)
    Reptilia AKT1S16
    Uncharacterized protein
    53(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)
    25(a)
    1 ↔ 1
    3(30345875-30351674)


    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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/186 SNPs in AKT1S1 are shown (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) 10/12 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

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

    8 diseases for AKT1S1:    About MalaCards
    frontal sinusitis    sinusitis    thymoma    tuberous sclerosis
    multiple sclerosis    lung cancer    sarcoma    neuronitis


    AKT1S1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for AKT1S1 gene, integrated from 9 sources (see all 39):
    (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. (2003)
    2. PRAS40 is an insulin-regulated inhibitor of the mTORC1 protein kinase. (PubMed id 17386266)1, 2 Sancak Y....Sabatini D.M. (2007)
    3. Insulin signalling to mTOR mediated by the Akt/PKB substrate PRAS40. (PubMed id 17277771)1, 2 Vander Haar E....Kim D.H. (2007)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    8. 14-3-3 proteins sequester a pool of soluble TRIM32 ubi quitin ligase to repress autoubiquitylation and cytoplasmic body formation. (PubMed id 23444366)1 Ichimura T....Hachiya N. (2013)
    9. Proline-rich Akt substrate of 40kDa (PRAS40): a novel downstream target of PI3k/Akt signaling pathway. (PubMed id 21906675)1 Wang H....Zheng W. (2012)
    10. Role of PRAS40 in Akt and mTOR signaling in health and disease. (PubMed id 22354785)1 Wiza C....Ouwens D.M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84335 HGNC: 28426 AceView: NUP62 Ensembl:ENSG00000204673 euGenes: HUgn84335
    ECgene: AKT1S1 Kegg: 84335 H-InvDB: AKT1S1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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