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RPS6KA6 Gene

protein-coding   GIFtS: 69
GCID: GC0XM083318

Ribosomal Protein S6 Kinase, 90kDa, Polypeptide 6

(Previous names: ribosomal protein S6 kinase, 90kD, polypeptide 6)
  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)
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Aliases
Ribosomal Protein S6 Kinase, 90kDa, Polypeptide 61 2     EC 2.7.11.13 8
RSK42 3 5     Ribosomal Protein S6 Kinase, 90kD, Polypeptide 61
Ribosomal S6 Kinase 42 3     PP90RSK42
90 KDa Ribosomal Protein S6 Kinase 62 3     Ribosomal Protein S6 Kinase Alpha-62
RSK-42 3     S6K-Alpha 62
S6K-alpha-62 3     pp90RSK43
P90-RSK 62 3     EC 2.7.118
p90RSK62 3     

External Ids:    HGNC: 104351   Entrez Gene: 273302   Ensembl: ENSG000000721337   OMIM: 3003035   UniProtKB: Q9UK323   

Export aliases for RPS6KA6 gene to outside databases

Previous GC identifers: GC0XM078698 GC0XM080395 GC0XM081354 GC0XM082090 GC0XM083125 GC0XM076885


(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 RPS6KA6 Gene:
This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by
growth factors. The encoded protein may be distinct from other members of this family, however, as studies
suggest it is not growth factor dependent and may not participate in the same signaling pathways. (provided by
RefSeq, Jan 2010)

GeneCards Summary for RPS6KA6 Gene:
RPS6KA6 (ribosomal protein S6 kinase, 90kDa, polypeptide 6) is a protein-coding gene. Diseases associated with RPS6KA6 include x-linked nonsyndromic deafness, and coffin-lowry syndrome. GO annotations related to this gene include protein serine/threonine kinase activity and protein kinase activity. An important paralog of this gene is MAPKAPK3.

UniProtKB/Swiss-Prot: KS6A6_HUMAN, Q9UK32
Function: Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase
activity and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role
during embryogenesis

summary for RPS6KA6 Gene:
p90 ribosomal S6 kinases (RSKs) are a family of protein serine/threonine kinases that regulate diverse
cellular processes such as cell growth, motility, survival and proliferation. There are four isoforms of
this enzyme; RSK1-4, which are directly activated by ERK1/2 in response to growth factors, many polypeptide
hormones, neurotransmitters and chemokines. p90 RSKs phosphorylate numerous cytosolic and nuclear targets
and act as downstream effectors of the ERK/MAPK signaling cascade. They are expressed ubiquitously in human
tissues and exist in multiple subcellular compartments. Abberant activation of p90 RSKs has been linked to
many human diseases, including breast and prostate cancers.




(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:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPS6KA6 gene promoter:
         AML1a   Brachyury   CUTL1   IRF-1   YY1   S8   SRY   E2F   E2F-1   HFH-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPS6KA6 promoter sequence
   Search Chromatin IP Primers for RPS6KA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPS6KA6


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

Entrez Gene cytogenetic band: Xq21   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq21.1

RPS6KA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPS6KA6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM083318:  view genomic region     (about GC identifiers)

Start:
83,313,354 bp from pter      End:
83,442,943 bp from pter
Size:
129,590 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KS6A6_HUMAN, Q9UK32 (See protein sequence)
Recommended Name: Ribosomal protein S6 kinase alpha-6  
Size: 745 amino acids; 83872 Da
Cofactor: Magnesium (By similarity)
Subunit: Forms a complex with MAPK3/ERK1 but not with MAPK9 or MAPK14 in serum-starved cells
Secondary accessions: B2R854 Q6FHX2 Q8WX28 Q9H4S6

Explore the universe of human proteins at neXtProt for RPS6KA6: NX_Q9UK32

Explore proteomics data for RPS6KA6 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-232, Ser-372, and Ser-389 in serum-starved cells1
  • Ubiquitination2 at Lys86, Lys570
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RPS6KA6 (Q9UK32) (see all 32)
     VVHRDLK  CDIWSLG  KLTDFGL  LYAMKVL 


    See RPS6KA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055311.1  
    ENSEMBL proteins: 
     ENSP00000262752   ENSP00000440830  
    Reactome Protein details: Q9UK32

    RPS6KA6 Human Recombinant Protein Products:

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    RPS6KA6 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: ribosomal protein S6 kinase, 90kDa, polypeptide 6
    RSK subfamily
    Other AGC kinases

    Selected InterPro protein domains (see all 8):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR000961 AGC-kinase_C
     IPR011009 Kinase-like_dom
     IPR017892 Pkinase_C

    Graphical View of Domain Structure for InterPro Entry Q9UK32

    ProtoNet protein and cluster: Q9UK32

    1 Blocks protein domain: IPB000961 Protein kinase C-terminal domain

    UniProtKB/Swiss-Prot: KS6A6_HUMAN, Q9UK32
    Similarity: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily
    Similarity: Contains 1 AGC-kinase C-terminal domain
    Similarity: Contains 2 protein kinase domains


    RPS6KA6 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KS6A6_HUMAN, Q9UK32
    Function: Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase
    activity and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role
    during embryogenesis
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Constitutively activated by phosphorylation at Ser-232, Ser-372, and Ser-389 in serum-starved
    cells. Does not require growth factor stimulation for significant kinase activity

         Genatlas biochemistry entry for RPS6KA6:
    ribosomal protein S6 kinase 4,abundantly expressed in brain and kidney,involved in neuronal development,member of
    a family of growth factor related serine threonine kinases,deleted in patients with complex X-linked mental
    retardation

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004672protein kinase activity TAS10644430
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005524ATP binding IEA--
         
    RPS6KA6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RPS6KA6:
     Prevent p53-dependent growth a 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rps6ka6):
     cardiovascular system  craniofacial  embryogenesis 

    RPS6KA6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPS6KA6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPS6KA6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RPS6KA6

    miRNA
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    miRTarBase miRNAs that target RPS6KA6:
    hsa-mir-26b-5p (MIRT029385), hsa-mir-335-5p (MIRT017599)

    Block miRNA regulation of human, mouse, rat RPS6KA6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RPS6KA6 (see all 101):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-15a hsa-miR-106a hsa-miR-199a-3p
    SwitchGear 3'UTR luciferase reporter plasmidRPS6KA6 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RPS6KA6
    Predesigned siRNA for gene silencing in human, mouse, rat RPS6KA6

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS6KA6


    (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
    KS6A6_HUMAN, Q9UK32: Cytoplasm, cytosol. Nucleus. Note=Predominantly cytosolic
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    mitochondrion3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--

    RPS6KA6 for ontologies           About GeneDecksing


    (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 RPS6KA6 About   (see all 23)  
    See pathways by source

    SuperPathContained pathways About
    1Post NMDA receptor activation events
    Post NMDA receptor activation events0.90
    Long-term potentiation0.35
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.90
    RSK activation0.00
    CREB phosphorylation through the activation of Ras0.78
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    ERK5 Signaling0.61
    Cellular Apoptosis Pathway0.85
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    5mTOR Pathway
    mTOR Pathway0.38
    Insulin Pathway0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RPS6KA6 (see all 15)
        FLT3 Signaling
    MAPK Signaling
    Mitochondrial Apoptosis
    CNTF Signaling
    GDNF-Family Ligands and Receptor Interactions

    5 Tocris Bioscience Pathways for RPS6KA6
        Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    MAPK Pathway
    mTOR Pathway

    2 BioSystems Pathways for RPS6KA6
        Insulin Signaling
    Cytoplasmic Ribosomal Proteins


    3 Reactome Pathways for RPS6KA6
        Recycling pathway of L1
    RSK activation
    CREB phosphorylation through the activation of Ras


    Selected Kegg Pathways  (Kegg details for RPS6KA6) (see all 6):
        MAPK signaling pathway
    Oocyte meiosis
    mTOR signaling pathway
    Long-term potentiation
    Neurotrophin signaling pathway


    RPS6KA6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPS6KA6
    Interactions:

        Search GeneGlobe Interaction Network for RPS6KA6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RPS6KA6 (Q9UK322, 3 ENSP000002627524) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADIRFQ158472, 3MINT-8269736 I2D: score=2 
    C14orf1Q9UKR52, 3MINT-8269747 I2D: score=2 
    CEBPZQ037012, 3MINT-8269769 I2D: score=2 
    CENPBP071992, 3MINT-8269780 I2D: score=2 
    CLEC3BP054522, 3MINT-8269791 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0006978DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IMP15042092
    GO:0007165signal transduction TAS10644430
    GO:0007268synaptic transmission TAS--
    GO:0007411axon guidance TAS--

    RPS6KA6 for ontologies           About GeneDecksing



    (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 compounds at ApexBio 

    Compounds for RPS6KA6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BRD 7389p90 ribosomal S6 kinase inhibitor[376382-11-5]
    PF 4708671S6K1 inhibitor[1255517-76-0]
    SL 0101-1Selective p90 ribosomal S6 kinase (RSK) inhibitor[77307-50-7]

    3 HMDB Compounds for RPS6KA6    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RPS6KA6 gene: 
    NM_014496.4  

    Unigene Cluster for RPS6KA6:

    Ribosomal protein S6 kinase, 90kDa, polypeptide 6
    Hs.234478  [show with all ESTs]
    Unigene Representative Sequence: NM_014496
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262752(uc004eej.2 uc011mqt.2 uc011mqu.2) ENST00000495332
    ENST00000460730 ENST00000543399(uc010nmo.1)
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    hsa-miR-411* hsa-miR-140-5p hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-15a hsa-miR-106a hsa-miR-199a-3p
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      QuantiFast Probe-based Assays in human, mouse, rat RPS6KA6

    Additional mRNA sequence: 

    AF184965.1 AK023104.1 AK026301.1 AK310346.1 AK313240.1 BC143647.1 BC143648.1 CR536566.1 

    4 DOTS entries:

    DT.40204461  DT.40112044  DT.95185890  DT.103574 

    10 AceView cDNA sequences:

    AA626690 BM714450 BU739434 CR536566 NM_014496 CD359575 AF184965 BX117884 
    H82896 H82897 

    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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    RPS6KA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RPS6KA6 Expression
    About this image


    RPS6KA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Brain (Nervous System)
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
    RPS6KA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPS6KA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.234478
        Custom PCR Arrays for RPS6KA6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS6KA6

    (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 eukaryotes.

    Orthologs for RPS6KA6 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rps6ka61 , 5 ribosomal protein S6 kinase polypeptide 61, 5 87.87(n)1
    88.54(a)1
      X (48.20 cM)5
    670711  NM_025949.21  NP_080225.21 
     1113881925 
    chicken
    (Gallus gallus)
    Aves RPS6KA61 ribosomal protein S6 kinase, 90kDa, polypeptide 6 82.57(n)
    87.94(a)
      422273  XM_420257.3  XP_420257.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    84(a)
    81(a)
    1 ↔ many
    1 ↔ many
    AAWZ02037556(100-14922)
    GL343202.1(593749-632837)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rps6ka61 ribosomal protein S6 kinase, 90kDa, polypeptide 6 78.42(n)
    86.83(a)
      100488417  XM_002938544.2  XP_002938590.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045478.12   -- 75.79(n)   337670  BC045478.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta S6kII3 protein amino acid phosphorylation
    protein serine/threonine more
    55(a)
    (best of 2)
      20B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea T01H8.1b3 Protein kinase C terminal domain 60(a)
    (best of 3)
      I(8582453-8585937)   --
    rice
    (Oryza sativa)
    Liliopsida Os.135212 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.06(n)    AK072649.1 


    ENSEMBL Gene Tree for RPS6KA6 (if available)
    TreeFam Gene Tree for RPS6KA6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPS6KA6 gene
    MAPKAPK32  MAPKAPK52  RPS6KA12  RPS6KA52  MAPKAPK22  RPS6KA42  MKNK12  MKNK22  
    RPS6KA32  RPS6KA22  
    Selected SIMAP similar genes for RPS6KA6 using alignment to 2 protein entries:     KS6A6_HUMAN (see all proteins) (see all similar genes):
    RPS6KA3    RPS6KA2    RPS6KA1    KIN27    PRKACA    RPS6KB2
    SGK2    DKFZp564L2416    PRKACG    PRKY    PRKACB    AKT3
    SGK1    RPS6KB1    CAMK1D    MARK4    AKT1    SGK494

    RPS6KA6 for paralogs           About GeneDecksing



    (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 RPS6KA6 (see all 1699)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0406384
    A lung adenocarcinoma sample4--see VAR_0406382 S T mis40--------
    VAR_0406374
    A lung large cell carcinoma sample4--see VAR_0406372 Y C mis40--------
    rs2001028901,2
    C--83285982(+) AAATT-/TCTGTGT 1 -- ds50010--------
    rs1844987921,2
    --83286020(+) CGGCAC/TACACG 1 -- ds50010--------
    rs66228941,2
    C,F,H--83286079(+) AAAAAA/CTGTTG 1 -- ds50014Minor allele frequency- C:0.12NS EA 420
    rs66228951,2
    C,F,H--83286131(+) AAAAGG/ATTGTC 1 -- ds50014Minor allele frequency- A:0.12NS EA 414
    rs1893248821,2
    --83286185(+) TAAAAA/CTACTG 1 -- ds50010--------
    rs2012680781,2
    C--83286243(+) TAGAA-/GAGT  
            
    AAGTT
    1 -- ds50010--------
    rs1436705361,2
    C--83286324(+) CACCTC/GGCCCC 1 -- ds50010--------
    rs1120299001,2
    C,F--83286346(+) TATCAC/TTGCCA 1 -- ds50011Minor allele frequency- T:0.00CSA 1

    HapMap Linkage Disequilibrium report for RPS6KA6 (83313354 - 83442943 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RPS6KA6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv513613CNV Insertion21212237
    nsv9958CNV Loss18304495
    nsv483019CNV Gain15286789

    Locus Specific Mutation Databases (LSDB): RPS6KA6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPS6KA6
    DNA2.0 Custom Variant and Variant Library Synthesis for RPS6KA6

    (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.)
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    OMIM gene information: 300303    OMIM disorders: --

    15 diseases for RPS6KA6:    
    About MalaCards
    x-linked nonsyndromic deafness    coffin-lowry syndrome    choroideremia    nonsyndromic deafness
    prostate cancer    autism spectrum disorder    prostatitis    choroiditis
    mental retardation    diabetes mellitus    melanoma    hiv-1
    breast cancer    endotheliitis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for RPS6KA6:
    X-linked nonsyndromic deafness     Coffin-Lowry syndrome     Choroideremia

    RPS6KA6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RPS6KA6
    Human Genome Epidemiology (HuGE) Navigator: RPS6KA6 (2 documents)

    Export disorders for RPS6KA6 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 RPS6KA6 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with RPS6KA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. (PubMed id 10644430)1, 2, 3, 9 Yntema H.G.... van Bokhoven H. (Genomics 1999)
    2. Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell types. (PubMed id 15632195)1, 2, 9 Duemmler B.A.... Froedin M. (J. Biol. Chem. 2005)
    3. X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women. (PubMed id 19679225)1, 4 Siddiqui R.A....Platzer M. (Am. J. Hum. Genet. 2009)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. A large-scale RNAi screen in human cells identifies new components of the p53 pathway. (PubMed id 15042092)1, 2 Berns K....Bernards R. (Nature 2004)
    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. Ribosomal s6 protein kinase 4: a prognostic factor for renal cell carcinoma. (PubMed id 23942078)1 Fan L....Wang Z. (Br. J. Cancer 2013)
    8. RSK3/4 mediate resistance to PI3K pathway inhibitors in breast cancer. (PubMed id 23635776)1 Serra V....Baselga J. (J. Clin. Invest. 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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: 27330 HGNC: 10435 AceView: RPS6KA6 Ensembl:ENSG00000072133 euGenes: HUgn27330
    ECgene: RPS6KA6 Kegg: 27330 H-InvDB: RPS6KA6

    (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 RPS6KA6 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 RPS6KA6 gene:
    Search GeneIP for patents involving RPS6KA6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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