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

RPS6KA3 Gene

protein-coding   GIFtS: 76
GCID: GC0XM020168

ribosomal protein S6 kinase, 90kDa, polypeptide 3

(Previous names: ribosomal protein S6 kinase, 90kD, polypeptide 3, mental...)
(Previous symbols: MRX19, CLS)
 Explore 31 diseases affiliated with
RPS6KA3 via our new
 Human Malady Compendium 
Biological research products
for RPS6KA3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ribosomal Protein S6 Kinase, 90kDa, Polypeptide 31 2     MAPKAP Kinase 1b2 3
RSK21 2 3 5     P90-RSK 32 3
MRX191 2 5     Pp90RSK21
CLS1 2     EC 2.7.11.13 8
HU-31 2     Coffin-Lowry Syndrome1
RSK1 2     Mental Retardation, X-Linked 191
Insulin-Stimulated Protein Kinase 12 3     Ribosomal Protein S6 Kinase, 90kD, Polypeptide 31
Ribosomal S6 Kinase 22 3     S6K-Alpha31
ISPK-12 3     P90-RSK21
MAPKAPK-1b2 3     Ribosomal Protein S6 Kinase Alpha-32
MAPKAPK1B2 3     90 KDa Ribosomal Protein S6 Kinase 33
RSK-22 3     ISPK13
S6K-Alpha-31     P90RSK31
MAP Kinase-Activated Protein Kinase 1b2 3     EC 2.7.118
MAPK-Activated Protein Kinase 1b2 3     

External Ids:    HGNC: 104321   Entrez Gene: 61972   Ensembl: ENSG000001771897   OMIM: 3000755   UniProtKB: P518123   

Export aliases for RPS6KA3 gene to outside databases

Previous GC identifers: GC0XU990207 GC0XM018839 GC0XM019371 GC0XM019534 GC0XM019933 GC0XM020077 GC0XM017910


(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 RPS6KA3:
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2
non-identical kinase catalytic domains and phosphorylates various substrates, including members of the
mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling
cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS).
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: KS6A3_HUMAN, P51812
Function: Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and
mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77,
regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and
differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is
required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequent
transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA),
phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon
insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at
'Ser-9' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism
and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin,
phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is
involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at 'Ser-1798', which potently inhibits
TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and
may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by
phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the
survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride
(CCl4). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B
association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. In
LPS-stimulated dendritic cells, is involved in TLR4-induced macropinocytosis, and in myeloma cells, acts as effector
of FGFR3-mediated transformation signaling, after direct phosphorylation at Tyr-529 by FGFR3. Phosphorylates DAPK1

summary for RPS6KA3:
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.

Gene Wiki entry for RPS6KA3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RPS6KA3 gene promoter:
         E2F-3a   E2F-4   SRF   E2F-5   SRF (504 AA)   E2F-2   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPS6KA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for RPS6KA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPS6KA3


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

Entrez Gene cytogenetic band: Xp22.2-p22.1   Ensembl cytogenetic band:  Xp22.12   HGNC cytogenetic band: Xp22.2-p22.1

RPS6KA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPS6KA3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM020168:  view genomic region     (about GC identifiers)

Start:
20,168,029 bp from pter      End:
20,285,523 bp from pter
Size:
117,495 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KS6A3_HUMAN, P51812 (See protein sequence)
Recommended Name: Ribosomal protein S6 kinase alpha-3  
Size: 740 amino acids; 83736 Da
Cofactor: Magnesium (By similarity)
Subunit: Forms a complex with either MAPK1/ERK2 or MAPK3/ERK1 in quiescent cells. Transiently dissociates following
mitogenic stimulation (By similarity). Interacts with NFATC4, ETV1/ER81 and FGFR1
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity)
Sequence caution: Sequence=BAD92170.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for RPS6KA3:
4D9T (3D)        4D9U (3D)    
Secondary accessions: B2R9V4 Q4VAP3 Q59H26 Q5JPK8 Q7Z3Z7

Explore the universe of human proteins at neXtProt for RPS6KA3: NX_P51812

Post-translational modifications:

  • Activated by phosphorylation at Ser-227 by PDPK1. Autophosphorylated on Ser-386, as part of the activation process. May
  • be phosphorylated at Thr-365 and Ser-369 by MAPK1/ERK2 and MAPK3/ERK1. Can also be activated via phosphorylation at
    Ser-386 by MAPKAPK21
  • N-terminal myristoylation results in an activated kinase in the absence of added growth factors1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51812

  • 4/40 DME Specific Peptides for RPS6KA3 (P51812) (see all 40)
     VVHRDLK  DKILRQK  CDIWSLG  KLTDFGL 

    RPS6KA3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004577.1  
    ENSEMBL proteins: 
     ENSP00000368884   ENSP00000407655   ENSP00000388512   ENSP00000440220   ENSP00000444837  
     ENSP00000368865  
    Reactome Protein details: P51812
    Human Recombinant Protein Products: 
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    Novus Biologicals RPS6KA3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RPS6KA3

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005840ribosome ----


    RPS6KA3 for ontologies           About GeneDecksing



    RPS6KA3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of RPS6KA3
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for RPS6KA3


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

    RPS6KA3 for domains           About GeneDecksing

    5/8 InterPro domains/families (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 P51812

    ProtoNet protein and cluster: P51812

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

    UniProtKB/Swiss-Prot: KS6A3_HUMAN, P51812
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: KS6A3_HUMAN, P51812
    Function: Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and
    mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77,
    regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and
    differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is
    required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequent
    transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA),
    phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon
    insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at
    'Ser-9' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism
    and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin,
    phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is
    involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at 'Ser-1798', which potently inhibits
    TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and
    may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by
    phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the
    survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride
    (CCl4). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B
    association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. In
    LPS-stimulated dendritic cells, is involved in TLR4-induced macropinocytosis, and in myeloma cells, acts as effector
    of FGFR3-mediated transformation signaling, after direct phosphorylation at Tyr-529 by FGFR3. Phosphorylates DAPK1
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Upon extracellular signal or mitogen stimulation, phosphorylated at Thr-577 in the C-terminal kinase
    domain (CTKD) by MAPK1/ERK2 and MAPK3/ERK1. The activated CTKD then autophosphorylates Ser-386, allowing binding of
    PDPK1, which in turn phosphorylates Ser-227 in the N-terminal kinase domain (NTDK) leading to the full activation of
    the protein and subsequent phosphorylation of the substrates by the NTKD

         Genatlas biochemistry entry for RPS6KA3:
    ribosomal S6 kinase,polypeptide 3,growth factor regulated serine /threonine kinase family,responsive for the activation
    of glycogen synthesis,involved in cell proliferation and differentiation but not in vivo in the phosphorylation of
    RPS6,mediating protein synthesis initiation and elongation induced by hormones or growth factors,maybe playing an
    essentilal regulatory role in protein synthesis during cell proliferation,required for epidermal growth factor
    activated phosphorylation of histone H3

    Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RPS6KA3
    8/206 QIAGEN miScript miRNA Assays for microRNAs that regulate RPS6KA3 (see all 206):
    hsa-miR-579 hsa-miR-140-5p hsa-miR-3938 hsa-miR-520f hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b hsa-miR-3653
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004672protein kinase activity TAS10436156
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0019901protein kinase binding IEA--


    RPS6KA3 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for RPS6KA3:
     Decreased melanin production  Increased mitotic index 

    Animal Models:
         Mouse knock-outs for RPS6KA3: Rps6ka3tm1Kry Rps6ka3tm1Ljg Rps6ka3tm1.1Kry
         15/23 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rps6ka3) (see all 23):
     adipose tissue  behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  muscle  nervous system 

    RPS6KA3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/42 super-pathways (see all 42About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TRAF6 Mediated Induction of proinflammatory cytokines
    8/19 pathways (see all 19)
    TRAF6 Mediated Induction of proinflammatory cytokines1.00
    Toll Like Receptor TLR1:TLR2 Cascade0.78
    MAP kinase activation in TLR cascade0.88
    Toll Like Receptor 2 (TLR2) Cascade0.78
    Toll Like Receptor 5 (TLR5) Cascade0.86
    MyD88:Mal cascade initiated on plasma membrane0.78
    Toll Like Receptor 10 (TLR10) Cascade0.86
    TRIF-mediated TLR3/TLR4 signaling 0.73
    2Axon guidance
    Axon guidance1.00
    Recycling pathway of L10.15
    Developmental Biology0.69
    Signal transduction by L10.12
    L1CAM interactions0.39
    3Development EGFR signaling pathway
    Development_GDNF family signaling0.45
    GDNF-Family Ligands and Receptor Interactions0.21
    Development GDNF family signaling0.45
    BDNF Pathway0.14
    4Post NMDA receptor activation events
    Post NMDA receptor activation events1.00
    CREB phosphorylation through the activation of Ras0.82
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    5Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/8 EMD Millipore Pathways for RPS6KA3 (see all 8)
        Development EDNRB signaling
    Development A2A receptor signaling
    Development GDNF family signaling
    Transcription CREB pathway
    Development Flt3 signaling

    5/19 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RPS6KA3 (see all 19)
        FLT3 Signaling
    MAPK Signaling
    UVB-Induced MAPK Signaling
    Mitochondrial Apoptosis
    CNTF Signaling

    1 Cell Signaling Technology (CST) Pathway for RPS6KA3
        MAP Kinase Signaling

    5 Tocris Bioscience Pathways for RPS6KA3
        Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    MAPK Pathway
    mTOR Pathway

    5/8 GeneGo (Thomson Reuters) Pathways for RPS6KA3 (see all 8)
        Development A2A receptor signaling
    Apoptosis and survival BAD phosphorylation
    Development Thrombopoietin-regulated cell processes
    Development IGF-1 receptor signaling
    Development GDNF family signaling

    5/6 BioSystems Pathways for RPS6KA3 (see all 6
        EGFR1 Signaling Pathway
    MAPK signaling pathway
    Cytoplasmic Ribosomal Proteins
    Insulin Signaling
    ErbB1 downstream signaling

    5/42        Reactome Pathways for RPS6KA3 (see all 42)
        CREB phosphorylation
    L1CAM interactions
    Toll Like Receptor 2 (TLR2) Cascade
    Toll Like Receptor TLR6:TLR2 Cascade
    Post NMDA receptor activation events


    5/6         Kegg Pathways  (Kegg details for RPS6KA3) (see all 6):
        MAPK signaling pathway
    Oocyte meiosis
    mTOR signaling pathway
    Long-term potentiation
    Neurotrophin signaling pathway


    RPS6KA3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPS6KA3

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

    5/71 Interacting proteins for RPS6KA3 (P518122, 3 ENSP000003688844) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF3CQ996132, 3, ENSP000003326044MINT-8269527 I2D: score=2 STRING: ENSP00000332604
    BARX1Q9HBU12, 3, ENSP000002539684MINT-8269516 I2D: score=2 STRING: ENSP00000253968
    MASP1P487402, 3MINT-8269538 I2D: score=2 
    EIF3CLQ996132, 3, ENSP000003702584MINT-8269527 I2D: score=2 STRING: ENSP00000370258
    ATP5JP188592, 3, ENSP000003896494MINT-8269505 I2D: score=2 STRING: ENSP00000389649
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS8955270
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0002755MyD88-dependent toll-like receptor signaling pathway TAS--
    GO:0002756MyD88-independent toll-like receptor signaling pathway TAS--
    GO:0006468protein phosphorylation ----


    RPS6KA3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RPS6KA3 for compounds           About GeneDecksing

    EMD Millipore small molecules for RPS6KA3:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for RPS6KA3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SL 0101-1Selective p90 ribosomal S6 kinase (RSK) inhibitor[77307-50-7]

    3 HMDB Compounds for RPS6KA3    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--
    10/14 Novoseek chemical compound relationships for RPS6KA3 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 62.3 27 18855572 (2), 14678837 (1), 9315666 (1), 10480933 (1) (see all 15)
    serine 50.6 27 18855572 (2), 9315666 (1), 10480933 (1), 16879200 (1) (see all 15)
    rapamycin 40.3 3 17678899 (1), 17786541 (1), 12087098 (1)
    wortmannin 33 1 15608143 (1)
    pd 98,059 32.9 1 15608143 (1)
    tyrosine 23.4 37 18156174 (4), 19223461 (3), 17785202 (2), 16369048 (1) (see all 5)
    salicylic acid 15.8 6 15738002 (3), 11189448 (1)
    alanine 10.4 3 15206906 (1), 19956600 (1)
    phosphoinositide 4.94 1 11108711 (1)
    lysine 4.56 1 19956600 (1)

    Search CenterWatch for drugs/clinical trials and news about RPS6KA3 / KS6A3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RPS6KA3 gene: 
    NM_004586.2  

    Unigene Cluster for RPS6KA3:

    Ribosomal protein S6 kinase, 90kDa, polypeptide 3
    Hs.445387  [show with all ESTs]
    Unigene Representative Sequence: NM_004586
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379565(uc011mjk.2 uc004czu.3 uc004czv.3 uc011mjl.2 uc011mjm.2)
    ENST00000479809 ENST00000457145 ENST00000492128 ENST00000438357 ENST00000474266
    ENST00000544447 ENST00000540702 ENST00000379548

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    8/206 QIAGEN miScript miRNA Assays for microRNAs that regulate RPS6KA3 (see all 206):
    hsa-miR-579 hsa-miR-140-5p hsa-miR-3938 hsa-miR-520f hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b hsa-miR-3653
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    Additional cDNA sequence: 

    AB102662.1 AB208933.1 AK022869.1 AK294373.1 AK296775.1 AK313932.1 AK316482.1 BC015451.1 
    BC096301.1 BC096302.3 BC096303.1 L07599.1 U08316.1 

    12 DOTS entries:

    DT.95158418  DT.91955088  DT.121308692  DT.204635  DT.86821215  DT.100746782  DT.121308705  DT.40215819 
    DT.99969413  DT.100825755  DT.433587  DT.95348295 

    24/200 AceView cDNA sequences (see all 200):

    AA677160 BM837850 BC015451 BX474710 CK905714 BX951732 W00439 AI475476 
    AA348593 AA045847 AI561193 BX108073 CD300712 BX486316 BG775542 BM697290 
    CB163538 BE502112 BM667935 AK022869 CF136261 AA578676 AW073800 BU620678 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RPS6KA3    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b
    SP1:              -     -                 -                                                                                                                     
    SP2:              -     -                 -                                                                                                                     
    SP3:                                      -                                                                                                                     
    SP4:                                                                                                                                                            


    ECgene alternative splicing isoforms for RPS6KA3

    (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

    RPS6KA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATAATCCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    RPS6KA3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyCap MesenchymeCap Mesenchyme CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RPS6KA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPS6KA3

    SOURCE GeneReport for Unigene cluster: Hs.445387

    UniProtKB/Swiss-Prot: KS6A3_HUMAN, P51812
    Tissue specificity: Expressed in many tissues, highest levels in skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Array including RPS6KA3: 
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPS6KA3 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RPS6KA31 ribosomal protein S6 kinase, 90kDa, polypeptide 3 86.75(n)
    97.6(a)
      418605  XM_416804.3  XP_416804.3 
    lizard
    (Anolis carolinensis)
    Reptilia RPS6KA36
    --
    96(a)
    1 ↔ 1
    3(123951010-123969120)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.331752 Xenopus laevis Rsk-2 (RSK2) mRNA, complete cds 83.38(n)    AF165162.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.210392 Danio rerio mRNA similar to ribosomal protein S6 kinase more 76.87(n)    BC045856.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta S6kII1 , 3 protein amino acid phosphorylation protein
    serine/threonine more3
    Ribosomal protein S6 kinase II1
    57(a)
    (best of 2)3
    58.03(n)1
    63.17(a)1
      20B13
    331391  NM_078713.21  NP_523437.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T01H8.1b3 Protein kinase C terminal domain 62(a)
    (best of 3)
      I(8582453-8585937)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons S6K26
    ATPK16
    serine/threonine-protein kinase AtPK1/AtPK6
    34(a)
    33(a)
    many ↔ many
    many ↔ many
    3(2648509-2651160)
    3(2651447-2654212)
    rice
    (Oryza sativa)
    Liliopsida Os.110682 Oryza sativa (japonica cultivar-group) mRNA for hypothetical more 71.77(n)    AK062218.1 


    ENSEMBL Gene Tree for RPS6KA3 (if available)
    TreeFam Gene Tree for RPS6KA3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RPS6KA3 gene
    AKT12  RPS6KA62  RPS6KB12  SGK32  SGK22  RPS6KA12  AKT32  RPS6KA52  
    RPS6KA42  SGK12  RPS6KB22  RPS6KA22  AKT22  
    18/151 SIMAP similar genes for RPS6KA3 using alignment to 10 protein entries:     KS6A3_HUMAN (see all proteins) (see all similar genes):
    RPS6KA2    RPS6KA6    RPS6KA1    PKN2    KIN27    SGK2
    RPS6KB1    PRKCA    PRKCZ    PRKACB    PRKACA    DKFZp564L2416
    PRKACG    NEK1    PRKY    RPS6KB2    CDC42BPA    RPS6KA5

    RPS6KA3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1196 NCBI SNPs in RPS6KA3 are shown (see all 1196    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289351711,2
    Cpathogenic20173553(-) TCAGCG/AGAGAG 2 /Q /R mis1 ese32Minor allele frequency- A:0.00NA 4
    rs1841596531,2
    --20167543(+) TTTGTA/GGATTC 1 -- ds50010--------
    rs1440958221,2
    --20167714(+) GAGAGA/GAAAGG 1 -- ds50010--------
    rs1866736791,2
    --20167742(+) ACTCTC/TTAACA 1 -- ds50010--------
    rs1899087101,2
    --20167823(+) AAAGTG/TTGGTA 1 -- ds50010--------
    rs1825269011,2
    --20167843(+) ATCTAC/TGATTT 1 -- ds50010--------
    rs59093581,2
    C,H,--20167896(+) GCATGG/CAAAAA 1 -- ds50014Minor allele frequency- C:0.00NS EA 414
    rs1871783971,2
    --20168052(+) TATTAC/TATAAA 1 -- ut310--------
    rs1929997921,2
    --20168314(+) CAATAC/TGTAAG 1 -- ut310--------
    rs1851244201,2
    --20168745(+) TTTGAA/GAAACT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RPS6KA3 (20168029 - 20285523 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for RPS6KA3
         5 CNVs: 83402 96534 96536 83401 96535
    Human Gene Mutation Database (HGMD): RPS6KA3

    Locus Specific Mutation Databases (LSDB): RPS6KA3

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RPS6KA3 for disorders           About GeneDecksing

    OMIM gene information: 300075   
    OMIM disorders: 303600  
    UniProtKB/Swiss-Prot: KS6A3_HUMAN, P51812
  • Defects in RPS6KA3 are the cause of Coffin-Lowry syndrome (CLS) [MIM:303600]. A X-linked mental retardation
  • associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing
    deficit and paroxysmal movement disorders
  • Defects in RPS6KA3 are the cause of mental retardation X-linked type 19 (MRX19) [MIM:300844]. MRX19 is a
  • non-syndromic form of mild to moderate mental retardation. Mental retardation is characterized by significantly below
    average general intellectual functioning associated with impairments in adaptative behavior and manifested during the
    developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with
    associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary
    symptom of non-syndromic X-linked mental retardation

    20/31 diseases for RPS6KA3 (see all 31):    About MalaCards
    coffin-lowry syndrome    mental retardation, x-linked    mental retardation, x-linked nonspecific, type 19    mental retardation, x-linked, nonspecific
    prostate cancer    prostatitis    alpha thalassemia    lactic acidosis
    partington syndrome    fg syndrome    estrogen resistance    intellectual disability
    ataxia telangiectasia    thalassemia    insulin resistance    squamous cell carcinoma
    lipodystrophy    ataxia    hepatocellular carcinoma    alzheimer's disease

    3 diseases from the University of Copenhagen DISEASES database for RPS6KA3:
    Coffin-Lowry syndrome     Intellectual disability     Partington syndrome

    9 Novoseek disease relationships for RPS6KA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coffin-lowry syndrome 98.2 65 11180593 (3), 14973203 (2), 17586481 (2), 10528858 (2) (see all 33)
    mental retardation 64.2 11 7943043 (2), 15668050 (1), 10319851 (1), 16691578 (1) (see all 8)
    severe mental retardation 62.9 1 14678837 (1)
    cancer 3.63 22 16723234 (2), 17785199 (1), 19435896 (1), 15515167 (1) (see all 8)
    shock 0 5 11189448 (2)
    inflammation 0 1 18836586 (1)
    tumors 0 5 19435896 (1), 20045011 (1), 19956600 (1)
    prostate cancer 0 17 15833840 (4), 20045011 (1), 19822882 (1)
    disability 0 2 11160957 (1)

    GeneTests: RPS6KA3
    Coffin-Lowry Syndrome

    Genetic Association Database (GAD): RPS6KA3
    Human Genome Epidemiology (HuGE) Navigator: RPS6KA3 (4 documents)

    Export disorders for RPS6KA3 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 RPS6KA3 gene, integrated from 9 sources (see all 213):
    (articles sorted by number of sources associating them with RPS6KA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human rsk isoforms: cloning and characterization of tissue-specific expression. (PubMed id 8141249)1, 2, 3, 9 Moller D.E.... Jakubowski M. (1994)
    2. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. (PubMed id 8955270)1, 2, 4, 9 Trivier E.... Hanauer A. (1996)
    3. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (PubMed id 16879200)1, 3, 9 Delaunoy J.P....Hanauer A. (2006)
    4. RSK2 mediates muscle cell differentiation through regulation of NFAT3. (PubMed id 17213202)1, 2, 9 Cho Y.-Y.... Dong Z. (2007)
    5. X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1). (PubMed id 11896450)1, 3, 9 Jacquot S....Hanauer A. (2002)
    6. Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene. (PubMed id 9770464)1, 2, 9 De Cesare D....Sassone-Corsi P. (1998)
    7. Nur77 is phosphorylated in cells by RSK in response to mitogenic stimulation. (PubMed id 16223362)1, 2, 9 Wingate A.D....Arthur J.S. (2006)
    8. Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. (PubMed id 14986828)1, 2, 9 Martinez-Garay I....Martinez F. (2003)
    9. Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3. (PubMed id 10436156)1, 2, 9 Sassone-Corsi P....Allis C.D. (1999)
    10. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of De novo mutations. (PubMed id 9837815)1, 2, 9 Jacquot S.... Hanauer A. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 6197 HGNC: 10432 AceView: RPS6KA3 Ensembl:ENSG00000177189 euGenes: HUgn6197
    ECgene: RPS6KA3 Kegg: 6197 H-InvDB: RPS6KA3

    (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 RPS6KA3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPS6KA3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RPS6KA3 gene:
    Search GeneIP for patents involving RPS6KA3

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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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