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PAK3 Gene

protein-coding   GIFtS: 71
GCID: GC0XP110226

P21 Protein (Cdc42/Rac)-Activated Kinase 3

(Previous names: mental retardation, X-linked 47, p21 (CDKN1A)-activated...)
(Previous symbols: MRX30, MRX47)
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(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
P21 Protein (Cdc42/Rac)-Activated Kinase 31 2     PAK3beta2
MRX301 2 5     bPAK2
MRX471 2 5     beta-PAK2
P21 (CDKN1A)-Activated Kinase 31 2     hPAK32
OPHN32 3     oligophrenin-32
PAK-32 3     Serine/Threonine-Protein Kinase PAK 32
P21-Activated Kinase 32 3     Beta-PAK3
EC 2.7.11.13 8     Oligophrenin-33
Mental Retardation, X-Linked 471     EC 2.7.118
CDKN1A2     

External Ids:    HGNC: 85921   Entrez Gene: 50632   Ensembl: ENSG000000772647   OMIM: 3001425   UniProtKB: O759143   

Export aliases for PAK3 gene to outside databases

Previous GC identifers: GC0XP105669 GC0XP107513 GC0XP108364 GC0XP109130 GC0XP110054 GC0XP099807


(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 PAK3 Gene:
PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling.
PAK proteins, a family of serine/threonine p21-activating kinases, serve as targets for the small GTP binding
proteins Cdc42 and RAC and have been implicated in a wide range of biological activities. The protein encoded by
this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then catalyzes a
variety of targets. This protein may be necessary for dendritic development and for the rapid cytoskeletal
reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of
non-syndromic mental retardation X-linked type 30 (MRX30), also called X-linked mental retardation type 47
(MRX47). Alternatively spliced transcript variants encoding different isoforms have been identified. (provided by
RefSeq, Jul 2008)

GeneCards Summary for PAK3 Gene:
PAK3 (p21 protein (Cdc42/Rac)-activated kinase 3) is a protein-coding gene. Diseases associated with PAK3 include 3q29 microdeletion syndrome, and mental retardation, x-linked 30/47. GO annotations related to this gene include Rho GTPase binding and protein serine/threonine kinase activity. An important paralog of this gene is PAK6.

UniProtKB/Swiss-Prot: PAK3_HUMAN, O75914
Function: Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including
cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis
as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1.
Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent
autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the
downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Additionally,
phosphorylates TNNI3/troponin I to modulate calcium sensitivity and relaxation kinetics of thin myofilaments. May
also be involved in early neuronal development

Gene Wiki entry for PAK3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAK3 gene promoter:
         Max1   GATA-3   Olf-1   Tal-1beta   c-Ets-1   C/EBPalpha   POU2F1   POU2F1a   Sox9   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAK3 promoter sequence
   Search Chromatin IP Primers for PAK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PAK3


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

Entrez Gene cytogenetic band: Xq23   Ensembl cytogenetic band:  Xq23   HGNC cytogenetic band: Xq22.3

PAK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAK3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP110226:  view genomic region     (about GC identifiers)

Start:
110,187,513 bp from pter      End:
110,470,589 bp from pter
Size:
283,077 bases      Orientation:
plus 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: PAK3_HUMAN, O75914 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase PAK 3  
Size: 559 amino acids; 62310 Da
Cofactor: Magnesium (By similarity)
Subunit: Interacts tightly with GTP-bound but not GDP-bound CDC42/p21 and RAC1. Shows highly specific binding to
the SH3 domains of phospholipase C-gamma and of adapter protein NCK. Interacts with the C-terminal of APP (By
similarity). Interacts with ARHGEF6 and ARHGEF7
Secondary accessions: A8K389 B1GX77 B1GX78 B1GX79 Q5JWX1 Q5JWX2 Q7Z2D6 Q7Z2E4 Q7Z3Z8 Q8WWK5
Q8WX23 Q9P0J8
Alternative splicing: 4 isoforms:  O75914-1   O75914-2   O75914-3   O75914-4   

Explore the universe of human proteins at neXtProt for PAK3: NX_O75914

Explore proteomics data for PAK3 at MOPED

Post-translational modifications: 

  • Autophosphorylated when activated by CDC42/p211
  • Neddylated1
  • Ubiquitination2 at Lys124, Lys433
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PAK3 (O75914) (see all 33)
     EGEPPYL  DSKETVN  NEILVMR  GQEVAIK 


    See PAK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001121638.1  NP_001121639.1  NP_001121640.1  NP_001121644.1  NP_001121645.1  NP_002569.1  

    ENSEMBL proteins: 
     ENSP00000361080   ENSP00000429113   ENSP00000361077   ENSP00000428921   ENSP00000405642  
     ENSP00000410853   ENSP00000401982   ENSP00000353864   ENSP00000389172   ENSP00000262836  
    Reactome Protein details: O75914

    PAK3 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant PAK3 Protein
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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals PAK3 Proteins
    Sino Biological Recombinant Protein for PAK3
    Sino Biological Cell Lysate for PAK3
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAK3

    PAK3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PAK3
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    OriGene Antibodies for PAK3
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    Novus Biologicals PAK3 Antibodies
    Abcam antibodies for PAK3 (Q13153, Q13177, O75914)
    Cloud-Clone Corp. Antibodies for PAK3
    ThermoFisher Antibodies for PAK3
    LSBio Antibodies in human, mouse, rat for PAK3

    PAK3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript PAK3-Activity-based Kinase Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PAK3
    Cloud-Clone Corp. CLIAs for PAK3


    (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: p21 protein (Cdc42/Rac)-activated kinase 3
    PAKA subfamily

    Selected InterPro protein domains (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry O75914

    ProtoNet protein and cluster: O75914

    1 Blocks protein domain: IPB000095 PAK-box/P21-Rho-binding

    UniProtKB/Swiss-Prot: PAK3_HUMAN, O75914
    Similarity: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily
    Similarity: Contains 1 CRIB domain
    Similarity: Contains 1 protein kinase domain


    PAK3 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: PAK3_HUMAN, O75914
    Function: Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including
    cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis
    as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1.
    Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent
    autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the
    downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Additionally,
    phosphorylates TNNI3/troponin I to modulate calcium sensitivity and relaxation kinetics of thin myofilaments. May
    also be involved in early neuronal development
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Activated by binding small G proteins. Binding of GTP-bound CDC42 or RAC1 to the autoregulatory
    region releases monomers from the autoinhibited dimer, enables phosphorylation of Thr-436 and allows the kinase
    domain to adopt an active structure (By similarity)

         Genatlas biochemistry entry for PAK3:
    p21/Cdc42/Rac1-activated kinase 3,S cerevisiae Ste20 related,only expressed in fetal brain,involved in signal
    transduction for cell shape and motility as well as actin organization

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004702receptor signaling protein serine/threonine kinase activity IBA--
    GO:0004708MAP kinase kinase activity IDA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI11157984
         
    PAK3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PAK3:
     Decreased 12E8 tau but not tot  Decreased substrate adherent c 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pak3):
     behavior/neurological  nervous system 

    PAK3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PAK3: Pak3tm1Lex Pak3tm1Zpj

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAK3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAK3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAK3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAK3

    miRNA
    Products:
        
    miRTarBase miRNAs that target PAK3:
    hsa-mir-335-5p (MIRT018369)

    Block miRNA regulation of human, mouse, rat PAK3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PAK3:
    hsa-miR-892b
    SwitchGear 3'UTR luciferase reporter plasmidPAK3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PAK3
    Predesigned siRNA for gene silencing in human, mouse, rat PAK3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PAK3

    Clone
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    OriGene clones in human, mouse for PAK3 (see all 36)
    OriGene ORF clones in mouse, rat for PAK3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): PAK3 (NM_001128168)
    Sino Biological Human cDNA Clone for PAK3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAK3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAK3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PAK3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAK3


    (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
    PAK3_HUMAN, O75914: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--

    PAK3 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 PAK3 About   (see all 35)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    Integrin-mediated cell adhesion0.38
    Focal Adhesion0.65
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    3Integrin Pathway
    FAK1 Signaling0.67
    GnRH Signaling0.56
    Integrin Pathway0.67
    Transendothelial Migration of Leukocytes0.38
    4GPCR Pathway
    Ras Pathway0.73
    GPCR Pathway0.62
    Paxillin Interactions0.73
    5ERK Signaling
    Rho Family GTPases0.61
    MAPK Signaling0.58
    ERK Signaling0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PAK3 (see all 31)
        MAPK Signaling
    Actin-Based Motility by Rho Family GTPases
    Paxillin Interactions
    Guidance Cues and Growth Cone Motility
    Semaphorin Signaling

    1 Cell Signaling Technology (CST) Pathway for PAK3
        Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for PAK3
        Development EPO-induced MAPK pathway
    G-protein signaling RAC1 in cellular process
    Cytoskeleton remodeling CDC42 in cellular processes

    5 BioSystems Pathways for PAK3
        Focal Adhesion
    Integrin-mediated cell adhesion
    G13 Signaling Pathway
    Regulation of Actin Cytoskeleton
    Regulation of p38-alpha and p38-beta

    1 Sino Biological Pathway for PAK3
        TGF-beta Signaling Pathway

    1 Reactome Pathway for PAK3
        Activation of Rac


    Selected Kegg Pathways  (Kegg details for PAK3) (see all 7):
        ErbB signaling pathway
    Ras signaling pathway
    Axon guidance
    Focal adhesion
    T cell receptor signaling pathway


    PAK3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PAK3: 
              Focal Adhesions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAK3

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

    Selected Interacting proteins for PAK3 (O759141, 2, 3 ENSP000003538644) via UniProtKB, MINT, STRING, and/or I2D (see all 266)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H2BCP628073I2D: score=2 
    HIST1H2BEP628073I2D: score=2 
    HIST1H2BFP628073I2D: score=2 
    HIST1H2BGP628073I2D: score=2 
    HIST1H2BIP628073I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IDA--
    GO:0000187activation of MAPK activity IDA--
    GO:0000278NOT mitotic cell cycle IBA--
    GO:0006468protein phosphorylation ----
    GO:0007015actin filament organization ----

    PAK3 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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PAK3

    4 HMDB Compounds for PAK3    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--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    MagnesiumMagnesium (see all 2)7439-95-4--

    4 Novoseek inferred chemical compound relationships for PAK3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 44.3 1 17582322 (1)
    serine 30.6 1 17582322 (1)
    histidine 20.1 1 8910277 (1)
    phosphatidylinositol 18.2 1 11025445 (1)



    PAK3 for compounds           About GeneDecksing



    (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 PAK3 gene (6 alternative transcripts): 
    NM_001128166.1  NM_001128167.1  NM_001128168.1  NM_001128172.1  NM_001128173.1  NM_002578.3  

    Unigene Cluster for PAK3:

    P21 protein (Cdc42/Rac)-activated kinase 3
    Hs.656789  [show with all ESTs]
    Unigene Representative Sequence: NM_002578
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484442 ENST00000372010(uc004epa.2) ENST00000519681(uc004eoz.2 uc011mst.1 uc010npw.1)
    ENST00000372007 ENST00000518291(uc004eoy.1) ENST00000429193 ENST00000487802
    ENST00000446737(uc010npt.1) ENST00000425146(uc010npu.1) ENST00000360648(uc010npv.1)
    ENST00000417227 ENST00000262836

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate PAK3:
    hsa-miR-892b
    SwitchGear 3'UTR luciferase reporter plasmidPAK3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 6): PAK3 (NM_001128168)
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      QuantiFast Probe-based Assays in human, mouse, rat PAK3

    Additional mRNA sequence: 

    AB102659.1 AF068864.1 AF155651.1 AK128022.1 AK290504.1 AK315284.1 AM943850.1 AM943851.1 
    AM943852.1 BC117353.1 BC117355.1 BC143544.1 EF491818.1 

    10 DOTS entries:

    DT.70100783  DT.75165389  DT.101975495  DT.101970174  DT.121308595  DT.40235977  DT.40274348  DT.95330767 
    DT.97825556  DT.121308583 

    Selected AceView cDNA sequences (see all 134):

    AW206972 BQ272091 NM_002578 AF068864 AK128022 BU069368 AA604464 AI123354 
    AA366008 AW960007 CB144121 CA866816 CA866768 AI990898 AA332490 AI129920 
    BM511568 AB102659 BE048196 F03777 BX099253 AA122184 BU742599 AI131192 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PAK3 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                          -                 -     -                                                               
    SP2:                          -                 -                                                                     
    SP3:                                            -     -                                                               
    SP4:                                                                                                                  
    SP5:                          -     -           -     -     -     -                                                   


    ECgene alternative splicing isoforms for PAK3

    (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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    PAK3 expression in normal human tissues (normalized intensities)      PAK3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PAK3 Expression
    About this image


    PAK3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Pancreas (Endocrine System)
    PAK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656789

    UniProtKB/Swiss-Prot: PAK3_HUMAN, O75914
    Tissue specificity: Restricted to the nervous system. Highly expressed in postmitotic neurons of the developing
    and postnatal cerebral cortex and hippocampus

        Pathway & Disease-focused RT2 Profiler PCR Array including PAK3: 
              Focal Adhesions in human mouse rat

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

    Orthologs for PAK3 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pak31 , 5 p21 protein (Cdc42/Rac)-activated kinase 31, 5 92.63(n)1
    98.58(a)1
      X (64.50 cM)5
    184811  NM_001195047.11  NP_001181976.11 
     1435185915 
    chicken
    (Gallus gallus)
    Aves PAK31 p21 protein (Cdc42/Rac)-activated kinase 3 86.68(n)
    96.24(a)
      422342  XM_003641115.2  XP_003641163.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAK36
    p21 protein (Cdc42/Rac)-activated kinase 3
    84(a)
    1 ↔ 1
    AAWZ02039409(1749-6873)
    African clawed frog
    (Xenopus laevis)
    Amphibia pak3-A2 serine/threonine protein kinase (p21-activated kinase more 82.52(n)    AF485330.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pak3 axon guidance protein serine/threonine
    kinase
    83(a)
    (best of 2)
      3 83E4   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y38F1A.103 Eukaryotic protein kinase domain 59(a)
    (best of 3)
      II(13015261-13020425)   --
    A. gossypii yeast
    (Ashbya gossypii)
    Saccharomycetes AGOS_ABR014W1 AGOS_ABR014W 59.33(n)
    61.14(a)
      4619052  NM_208313.2  NP_982960.2 


    ENSEMBL Gene Tree for PAK3 (if available)
    TreeFam Gene Tree for PAK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAK3 gene
    PAK62  PAK72  PAK12  PAK42  PAK22  
    18 SIMAP similar genes for PAK3 using alignment to 2 protein entries:     PAK3_HUMAN (see all proteins):
    PAK1    PAK2    PAK4    PAK7    MST094    STK24
    STK25    MST4    STK3    STK4    MYO3A    PRKY
    PRKAA1    PAK6    CDK4    MAP2K5    STK17A    STRADA

    PAK3 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 PAK3 (see all 3594)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0238254
    Mental retardation, X-linked 30 (MRX30)4--see VAR_0238252 R C mis40--------
    VAR_0467644
    A colorectal adenocarcinoma sample4--see VAR_0467642 T S mis40--------
    VAR_0238264
    Mental retardation, X-linked 30 (MRX30)4--see VAR_0238262 A E mis40--------
    rs1400031401,2
    --110165624(+) AATCAC/GAGTAG 2 -- us2k10--------
    rs1904798831,2
    --110165707(+) GGTCCC/TGTTCT 2 -- us2k10--------
    rs1436953991,2
    C--110165866(+) TATTGA/GTAATA 2 -- us2k10--------
    rs125580901,2
    H--110166150(+) GCCCAG/CGCTGG 2 -- us2k14Minor allele frequency- C:0.00NS EA 420
    rs15568031,2
    C,F,H--110166291(+) ATTGTT/CCTTTC 2 -- us2k121Minor allele frequency- C:0.87NA EA NS WA 2370
    rs1830571631,2
    --110166504(+) CATTAC/GTTCCA 2 -- us2k10--------
    rs1404921381,2
    --110166657(+) CCATGC/GTGAGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PAK3 (110187513 - 110437513 bp, first 250kb of PAK3)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PAK3: --
    Human Gene Mutation Database (HGMD): PAK3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PAK3
    DNA2.0 Custom Variant and Variant Library Synthesis for PAK3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300142   
    OMIM disorders: 300558  
    UniProtKB/Swiss-Prot: PAK3_HUMAN, O75914
  • Mental retardation, X-linked 30 (MRX30) [MIM:300558]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for PAK3:    About MalaCards
    3q29 microdeletion syndrome    mental retardation, x-linked 30/47    mental retardation, x-linked    mental retardation, x-linked 17/31, microduplication
    mental retardation    non-specific x-linked mental retardation    cerebellar hypoplasia    human t-cell leukemia virus type 1
    neuroendocrine tumor    intellectual disability    t-cell leukemia    renal cell carcinoma
    cerebritis    schizophrenia    endotheliitis    alzheimer's disease
    multiple myeloma    myeloma    leukemia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for PAK3:
    Intellectual disability

    PAK3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for PAK3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 75 17 15574732 (2), 17537723 (2), 18523455 (2), 10946356 (2) (see all 12)

    Genetic Association Database (GAD): PAK3
    Human Genome Epidemiology (HuGE) Navigator: PAK3 (2 documents)

    Export disorders for PAK3 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 PAK3 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with PAK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PAK3 mutation in nonsyndromic X-linked mental retardation. (PubMed id 9731525)1, 2, 3, 9 Allen K.M.... Walsh C.A. (Nat. Genet. 1998)
    2. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. (PubMed id 10946356)1, 2, 9 Bienvenu T.... Beldjord C. (Am. J. Med. Genet. 2000)
    3. Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment. (PubMed id 18805672)1, 4, 9 Morrow E.M....Walsh C.A. (Schizophr. Res. 2008)
    4. Development and validation of a method for profiling post-translational modification activities using protein microarrays. (PubMed id 20596523)1, 2 Del RincA^n S.V....Spruck C. (PLoS ONE 2010)
    5. PAK signalling in neuronal physiology. (PubMed id 19036346)1, 2 Kreis P. and Barnier J.V. (Cell. Signal. 2009)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer. (PubMed id 15099969)1, 4 Roh J.W....Lee H.P. (Gynecol. Oncol. 2004)
    9. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (Mol. Biol. Evol. 2003)
    10. X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. (PubMed id 12884430)1, 2 Gedeon A.K.... Mulley J.C. (Am. J. Med. Genet. A 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5063 HGNC: 8592 AceView: PAK3 Ensembl:ENSG00000077264 euGenes: HUgn5063
    ECgene: PAK3 Kegg: 5063 H-InvDB: PAK3

    (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 PAK3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PAK3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PAK3 gene:
    Search GeneIP for patents involving PAK3

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



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