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AKT1S1 Gene

protein-coding   GIFtS: 52

GC19M046748
AKT1 substrate 1 (proline-rich)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
AKT1 substrate 1 (proline-rich)1 2     OTTHUMP000001967602
PRAS401 2 3     OTTHUMP000001967562
MGC28651 2     proline-rich AKT1 substrate 12
Lobe1 2     proline-rich Akt substrate, 40 kDa2
40 kDa proline-rich AKT substrate2 3     

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

Export aliases for AKT1S1 gene to outside databases

Previous GC identifers: GC19M055067 GC19M055071 GC19M055073 GC19M050372


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

Entrez Gene summary for AKT1S1:
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)

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. Amino-acid-signaling to mTORC1 is mediated by Rag
GTPases, which cause amino-acid-induced relocalization of mTOR within the endomembrane system. 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. 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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKT1S1 gene promoter:
         p300   Sp1   NF-kappaB1   NF-kappaB   NF-kappaB2   p53   FOXO3a   FOXO3b   GATA-1   Elk-1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for AKT1S1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M046748:  view genomic region     (about GC identifiers)

Start:
46,748,633 bp from pter
End:
46,756,980 bp from pter
Size:
8,348 bases
Orientation:
minus strand

1 alternative location:
Chr19- 50,372,295-50,381,716     
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 FRAP1, LST8, RAPTOR and AKT1S1.
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 Q96BI4 Q96IK7 Q96NG2 Q9BWR5
Alternative splicing: 2 isoforms:  Q96B36-1   Q96B36-2   

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

Post-translational modifications:

  • Phosphorylated by AKT1. Phosphorylation relieves inhibitory function on mTORC11
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_001092102.1  NP_001092103.1  NP_115751.2  


    ENSEMBL proteins: 
    ENSP00000375709 ENSP00000341698 ENSP00000375708 ENSP00000375711 ENSP00000375707 ENSP00000375706 
    ENSP00000375710 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Enzo Life Sciences proteins for AKT1S1
    OriGene Purified Protein: AKT1S1
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for AKT1S1 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol EXP12524439
    GO:0031931colocalizes with TORC1 complex IDA17386266
    GO:0044445 cytosolic part ISS--
    About this table

    AKT1S1 for ontologies           About GeneDecksing



    Antibodies for AKT1S1: 
    Millipore Mono- and Polyclonal Antibodies for the study of AKT1S1
    Sigma-Aldrich Antibodies for AKT1S1
    R&D Systems Antibodies for AKT1S1 (PRAS40)
    Cell Signaling Technology (CST) Antibodies for AKT1S1  (PRAS40)
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for AKT1S1 
    Novus Biologicals Antibodies for AKT1S1
    Browse antibodies at Epitomics

    Assays for AKT1S1: 
    Millipore Kits and Assays for the Analysis of AKT1S1
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AKT1S1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for AKT1S1 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q96B36


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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. Amino-acid-signaling to mTORC1 is mediated by Rag
    GTPases, which cause amino-acid-induced relocalization of mTOR within the endomembrane system. 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. 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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA for AKT1S1
    Sigma-Aldrich shRNA for AKT1S1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): AKT1S1
    OriGene shRNA RFP (see all 4): AKT1S1
    OriGene basic RS shRNA (see all 4): AKT1S1
    OriGene siRNA (see all 4): AKT1S1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AKT1S1 
    miRNA:Sigma-Aldrich microRNA Mimics for AKT1S1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AKT1S1 
    1 SABiosciences Assays for microRNA that regulate AKT1S1:
    hsa-miR-216a

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): AKT1S1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): AKT1S1
    OriGene untagged cDNA clones in CMV expression vector (see all 3): AKT1S1
    OriGene 3'-UTR clone (see all 3): AKT1S1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for AKT1S1 
    Sino Biological Human cDNA Clone for AKT1S1

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for AKT1S1 

    1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI17386266
    About this table

    AKT1S1 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    AKT1S1 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  AKT1S1
        14-3-3-mediated Signaling

    1 Cell Signaling Technology (CST) Pathway for AKT1S1
        Akt/PKB Signaling

        SABiosciences Pathway-Focused PCR Array including AKT1S1: PAHS-098A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for AKT1S1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKT1S1

    5/12 Interacting proteins for AKT1S1 (Q96B362 ENSP000003416983) via UniProtKB, MINT, and/or STRING (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462MINT-8008331
    YWHAHQ049172MINT-8006296
    YWHAZP631042MINT-3317888
    MLST8ENSP000003017243STRING: ENSP00000301724
    RHEBENSP000002621873STRING: ENSP00000262187
    About this table

    5/8 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006469 negative regulation of protein kinase activity IDA17386266
    GO:0023034 intracellular signaling pathway TAS--
    GO:0032007 negative regulation of TOR signaling cascade IDA17386266
    GO:0043526 neuroprotection ISS--
    GO:0045792 negative regulation of cell size IDA17386266
    About this table

    AKT1S1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AKT1S1


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA for AKT1S1
    Sigma-Aldrich shRNA for AKT1S1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): AKT1S1
    OriGene shRNA RFP (see all 4): AKT1S1
    OriGene basic RS shRNA (see all 4): AKT1S1
    OriGene siRNA (see all 4): AKT1S1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AKT1S1 
    miRNA: Sigma-Aldrich microRNA Mimics for AKT1S1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AKT1S1 
    1 SABiosciences Assays for microRNA that regulate AKT1S1:
    hsa-miR-216a
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): AKT1S1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): AKT1S1
    OriGene untagged cDNA clones in CMV expression vector (see all 3): AKT1S1
    OriGene 3'-UTR Clone (see all 3): AKT1S1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for AKT1S1 
    Primers: OriGene genome-wide validated SYBR primer pairs: AKT1S1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for AKT1S1: PPH14889A

    REFSEQ mRNAs for AKT1S1 gene (3 alternative transcripts): 

    NM_001098632.1  NM_001098633.1  NM_032375.3  

    Additional cDNA sequence: 

    AK055511.1 AK092610.1 AK123687.1 AK226004.1 AK316603.1 BC000031.2 BC007416.2 BC015562.1 
    BC016043.1 BC022241.1 BC051844.2 CR595556.1 CR602166.1 CR603738.1 CR604133.1 CR606632.1 
    CR608170.1 CR608835.1 CR612202.1 CR619923.1 

    18 DOTS entries:

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

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

    AI139287 AA435912 AI307671 AX747627 BE790884 AI869032 AY358933 BU184116 
    BQ879836 NM_012346 BU161047 CD370347 AA731646 BE890106 BU542272 BI259746 
    BF436037 AI215639 BE256940 AA487508 AU132207 BU556816 BQ898301 AI864949 

    highest scoring ESTs for AKT1S1:

    AI762096 AA577237 AI468603 AI824210 AV734459 BC015562 BC016043 BE267732 BE274297 BE276006 

    Unigene Cluster for AKT1S1:

    AKT1 substrate 1 (proline-rich)
    Hs.515542  [show with all ESTs]
    Unigene Representative Sequence: BC022241


    GeneLoc Exon Structure

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391833 ENST00000344175 ENST00000391832 ENST00000391835(uc002pqn.3 uc002pqm.3)
    ENST00000391831 ENST00000391830 ENST00000482622 ENST00000391834(uc002pql.3)


    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    AKT1S1 expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching AKT1S1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    48732_at2, 3 U95-C 1 1.00 1.00 0.62 1.20 W73033 0.60 1.00 0.82 1
    89138_at2, 3 U95-E 1 1.00 1.00 0.42 1.00 AI762096 1.00 0.87 0.94 1
    66113_r_at2, 3 U95-C 1 0.44 1.00 0.84 0.82 AI824210 0.60 1.00 0.82 1
    224982_at2, 3 U133-B 1 1.00 1.00 -- -- BE790884 0.60 0.78 0.69 1
    1555821_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    224982_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    AKT1S1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    AKT1S1 gene expression
    AKT1S1 gene electronic northern expression
    AKT1S1 gene sage expression
    About these images

    CGAP SAGE TAG: CGCGCGCTGG

    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. A549 and HeLa) than in normal cell lines (e.g. HEK293)

    Primers: OriGene genome-wide validated SYBR primer pairs: AKT1S1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for AKT1S1: PPH14889A
        SABiosciences Expression via Pathway-Focused PCR Array including AKT1S1: PAHS-098A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for AKT1S1 gene from 5/7 species (see all 7)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AKT1S11   -- AKT1 substrate 1 (proline-rich) 89.45(n)
    93.75(a)
    610130  XM_846276.1  XP_851369.1 
    chimpanzee
    (Pan troglodytes)
    AKT1S11   -- AKT1 substrate 1 (proline-rich) 98.96(n)
    99.61(a)
    456218  XM_001173520.1  XP_001173520.1 
    cow
    (Bos taurus)
    AKT1S11   -- AKT1 substrate 1 (proline-rich) 88.67(n)
    94.92(a)
    514859  XM_869458.2  XP_874551.1 
    rat
    (Rattus norvegicus)
    Akt1s11   -- AKT1 substrate 1 (proline-rich) 85.16(n)
    92.97(a)
    292887  XM_238103.4  XP_238103.4 
    mouse
    (Mus musculus)
    Akt1s11 , 5 7 (28.94 cM)5
    AKT1 substrate 1 (proline-rich)1, 5 85.42(n)1
    93.75(a)1
    676051  NM_026270.21  NP_080546.11 
     AI2270265  AK0036385  (see all 18)
    About this table        Species with no ortholog for AKT1S1

    ENSEMBL Gene Tree for AKT1S1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/57 NCBI SNPs in AKT1S1 are shown (see all 57)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs10520681,2
    --50374946(-) CCCCGC/TCGGCC 6 A V ref1 mis1 ese31Minor allele frequency- T:0.00MN 184
    rs22907741,2
    C,F,A,H,50375035(+) TGCCCT/CCAGGT 3 -- int111Minor allele frequency- C:0.43EA NA WA 1066
    rs22907751,2
    C,F,A,50375242(+) CACCAC/TCTCCA 3 -- int117Minor allele frequency- T:0.27EA NS NA WA 2446
    rs37454831,2
    C,F50372867(+) AGGCGG/AAAAAC 3 -- ut31 ese38Minor allele frequency- A:0.01EA NA NS 2064
    rs37454841,2
    C,H50373097(+) CAGATT/GAGCAG 3 -- ut31 ese35Minor allele frequency- G:0.01EA NA NS 1752
    rs48026331,2
    C,F,50373660(+) GGTTTC/TAGTCA 3 -- int17Minor allele frequency- T:0.04NS EA WA 534
    rs48026341,2
    C,F,A,H,50377757(+) TGTGAC/TAGCTG 3 -- int113Minor allele frequency- T:0.49NS EA NA WA 558
    rs81102651,2
    C,F,A,H,50377835(+) GGTCGG/ACCCTA 3 -- int17Minor allele frequency- A:0.26NA EA WA 100
    rs81128301,2
    C,A,50375447(+) CATGCA/GATGAC 3 -- int14Minor allele frequency- G:0.46NA EA 164
    rs81129371,2
    C,A50375446(+) ACATGC/CA    
       
    /G/GG
    ATGAC
    3 -- int11NA 2
    About this table

    HapMap Linkage Disequilibrium images for AKT1S1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AKT1S1
         2 CNVs: 5114 32261

    QIAGEN SeqTarget long-range PCR primers for resequencing AKT1S1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AKT1S1 for disorders           About GeneDecksing

    OMIM: 610221


    Export disorders and mutations for AKT1S1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/24 PubMed articles for AKT1S1 gene, integrated from 7 sources (see all 24):
    (articles sorted by number of sources associating them with AKT1S1)
    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. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    10. The binding of PRAS40 to 14-3-3 proteins is not required for activation of mTORC1 signalling by phorbol esters/ERK. (PubMed id 18215133)1 Fonseca B.D....Proud C.G. (2008)

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    (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 H-InvDB: AKT1S1

    (According to HUGE)
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    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    (Patent information from GeneIP,
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    Patent Information for AKT1S1 gene:
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