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

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)
 Explore 13 diseases affiliated with
PAK3 via our new
 Human Malady Compendium 
Biological research products
for PAK3
    

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

Aliases
P21 Protein (Cdc42/Rac)-Activated Kinase 31 2     Mental Retardation, X-Linked 471
MRX301 2 5     CDKN1A2
MRX471 2 5     PAK3beta2
BPAK1     Beta-PAK3
HPAK31     Oligophrenin-33
P21 (CDKN1A)-Activated Kinase 31 2     Serine/Threonine-Protein Kinase PAK 32
OPHN32 3     Beta-PAK3
PAK-32 3     Oligophrenin-33
P21-Activated Kinase 32 3     EC 2.7.118
EC 2.7.11.13 8     

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

Entrez Gene summary for PAK3:
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)

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

Gene Wiki entry for PAK3


(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_011651.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PAK3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
110,464,173 bp from pter
Size:
276,661 bases      Orientation:
plus 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: 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
Subcellular location: Cytoplasm (By similarity)
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

Post-translational modifications:

  • Autophosphorylated when activated by CDC42/p211
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75914

  • 4/33 DME Specific Peptides for PAK3 (O75914) (see all 33)
     EGEPPYL  DSKETVN  NEILVMR  GQEVAIK 

    PAK3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant PAK3 Protein
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    Novus Biologicals PAK3 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PAK3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    PAK3 for ontologies           About GeneDecksing



    PAK3 Antibody Products: 
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    Assay Products for PAK3: 
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    Browse OriGene Fluorogenic Cell Assay Kits
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    GenScript PAK3-Activity-based Kinase Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PAK3


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

    PAK3 for domains           About GeneDecksing

    5/6 InterPro domains/families (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_cat_dom

    Graphical View of Domain Structure for InterPro Entry O75914

    ProtoNet protein and cluster: O75914

    1 Blocks protein family: 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


    (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: 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
    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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PAK3:
    hsa-mir-423-3p (MIRT000589), hsa-mir-520b (MIRT000583), hsa-mir-520h (MIRT000582), hsa-mir-182 (MIRT000576), hsa-mir-299-5p (MIRT000593), hsa-mir-132 (MIRT000601), hsa-mir-302a (MIRT004660), hsa-mir-28-5p (MIRT000595), hsa-mir-519d (MIRT000586), hsa-mir-17 (MIRT000600), hsa-mir-519e (MIRT000585), hsa-mir-146a (MIRT004661), hsa-mir-146b-5p (MIRT004662), hsa-mir-208b (MIRT000598), hsa-mir-106b (MIRT000603), hsa-mir-572 (MIRT000581), hsa-mir-208a (MIRT000599), hsa-mir-125a-5p (MIRT000602), hsa-mir-345 (MIRT000592), hsa-mir-639 (MIRT000580), hsa-mir-519b-3p (MIRT000587), hsa-mir-515-3p (MIRT000588), hsa-mir-372 (MIRT000590), hsa-mir-657 (MIRT000578), hsa-mir-503 (MIRT000642), hsa-mir-520a-3p (MIRT000584), hsa-mir-654-3p (MIRT000579), hsa-mir-298 (MIRT000594), hsa-mir-20b (MIRT000596), hsa-mir-106a (MIRT001223), hsa-mir-363 (MIRT000591), hsa-mir-145 (MIRT000575), hsa-mir-942 (MIRT000574), hsa-mir-96 (MIRT003414), hsa-mir-93 (MIRT000577), hsa-mir-20a (MIRT000597)

    OriGene 3'-UTR Clone (see all 6): PAK3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAK3
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PAK3:
    hsa-miR-892b
    SwitchGear 3'UTR luciferase reporter plasmidPAK3 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAK3

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAK3 

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    Search LifeMap BioReagents cell lines for PAK3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAK3

    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004708MAP kinase kinase activity IDA--
    GO:0005515protein binding IPI11862216
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----


    PAK3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for PAK3: Pak3tm1Lex Pak3tm1Zpj
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pak3):
     behavior/neurological  nervous system 

    PAK3 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 - 5/33 super-pathways (see all 33About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G-protein signaling_RAC1 in cellular process
    G-protein signaling_RAC1 in cellular process1.00
    Cytoskeleton remodeling_CDC42 in cellular processes0.37
    G-protein signaling RAC1 in cellular process1.00
    Cytoskeleton remodeling CDC42 in cellular processes0.37
    2Integrin Pathway
    Integrin Pathway1.00
    GnRH Signaling0.56
    FAK1 Signaling0.67
    Transendothelial Migration of Leukocytes0.38
    3Rho Family GTPases
    Rho Family GTPases1.00
    MAPK Signaling0.51
    ERK Signaling0.61
    4GPCR Pathway
    GPCR Pathway1.00
    Paxillin Interactions0.53
    Ras Pathway0.62
    5CCR3 Pathway in Eosinophils
    CCR3 Pathway in Eosinophils1.00
    Internalin Pathway0.19
    CXCR4 Pathway0.39

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for PAK3
        G-protein signaling RAC1 in cellular process
    Cytoskeleton remodeling CDC42 in cellular processes
    Development EPO-induced MAPK pathway

    5/31 Downloadable PowerPoint Slides of QIAGEN 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 
        Integrin-mediated cell adhesion
    G13 Signaling Pathway
    Focal Adhesion
    Regulation of Actin Cytoskeleton
    Regulation of p38-alpha and p38-beta

    4        Reactome Pathways for PAK3
        Developmental Biology
    Signaling by Robo receptor
    Activation of Rac
    Axon guidance


    5/6         Kegg Pathways  (Kegg details for PAK3) (see all 6):
        ErbB signaling pathway
    Axon guidance
    Focal adhesion
    T cell receptor signaling pathway
    Regulation of actin cytoskeleton


    PAK3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAK3

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

    5/123 Interacting proteins for PAK3 (O759141, 2, 3 ENSP000003538644) via UniProtKB, MINT, STRING, and/or I2D (see all 123)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IDA--
    GO:0000187activation of MAPK activity IDA--
    GO:0007409axonogenesis ISS--
    GO:0016358dendrite development ISS--
    GO:0030833regulation of actin filament polymerization IDA--


    PAK3 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

    PAK3 for compounds           About GeneDecksing

    EMD Millipore small molecules for PAK3:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about PAK3 

    (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 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

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PAK3:
    hsa-miR-892b
    SwitchGear 3'UTR luciferase reporter plasmidPAK3 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAK3
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PAK3 (see all 12)
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    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAK3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAK3 
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PAK3
    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PAK3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAK3

    Additional cDNA 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 

    24/134 AceView cDNA sequences (see all 134):

    BQ232162 F03777 AI298548 BE348843 AA604464 AA366008 F07541 AF068864 
    BU786869 NM_002578 BM511568 BQ417506 BU742599 AB102659 BM728662 AI990898 
    Z45736 CF528681 BX099253 BQ288056 AA332490 AI129920 BU069368 BE048196 

    GeneLoc Exon Structure

    5/9 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™, 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

    PAK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image

    PAK3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeForegutForegut Endoderm CellsEndoderm
    BrainHypothalamusBrain
    BrainThalamusBrain
    Neural TubeDiencephalic Ventricular ZoneNeural Tube
    Neural TubeDiencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PAK3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAK3

    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

        SABiosciences Expression via Pathway-Focused PCR Array including PAK3: 
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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 animals.

    Orthologs for PAK3 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PAK31 p21 protein (Cdc42/Rac)-activated kinase 3 85.13(n)
    94.78(a)
      422342  XM_003641115.1  XP_003641163.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAK36
    --
    95(a)
    1 ↔ 1
    GL343376.1(229864-257550)
    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)   --


    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)
    About This Section
    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, 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

    10/3037 NCBI SNPs in PAK3 are shown (see all 3037    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1400031401,2
    --110185554(+) AATCAC/GAGTAG 2 -- us2k10--------
    rs1904798831,2
    --110185637(+) GGTCCC/TGTTCT 2 -- us2k10--------
    rs1436953991,2
    --110185796(+) TATTGA/GTAATA 2 -- us2k10--------
    rs125580901,2
    H--110186080(+) GCCCAG/CGCTGG 2 -- us2k14Minor allele frequency- C:0.00NS EA 420
    rs15568031,2
    C,F,H,--110186221(+) ATTGTT/CCTTTC 2 -- us2k121Minor allele frequency- C:0.87NA EA NS WA 2370
    rs1830571631,2
    --110186434(+) CATTAC/GTTCCA 2 -- us2k10--------
    rs1404921381,2
    --110186587(+) CCATGC/GTGAGA 2 -- us2k10--------
    rs19331181,2
    C,F,H,--110186592(+) CTGAGC/ACCTAG 2 -- us2k114Minor allele frequency- A:0.01NS EA NA WA CSA 450
    rs1453289871,2
    --110186661(+) ATGGTA/TGGGAA 2 -- us2k10--------
    rs735420571,2
    C,--110187026(+) CCAGCG/ATAATG 2 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for PAK3 (110187513 - 110437513 bp, first 250kb of PAK3)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PAK3: --
    Human Gene Mutation Database (HGMD): PAK3

    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

    PAK3 for disorders           About GeneDecksing

    OMIM gene information: 300142   
    OMIM disorders: 300558  
    UniProtKB/Swiss-Prot: PAK3_HUMAN, O75914
  • Defects in PAK3 are the cause of mental retardation X-linked type 30 (MRX30) [MIM:300558]; also called
  • X-linked mental retardation type 47 (MRX47). Mental retardation is a mental disorder characterized by significantly
    sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during
    the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs

    13 diseases for PAK3:    About MalaCards
    mental retardation, x-linked    cerebellar hypoplasia    intellectual disability    mental disorders
    renal cell carcinoma    endometrial cancer    alzheimer's disease    schizophrenia
    pharyngitis    nephropathy    cerebritis    carcinoma
    neuronitis

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

    1 Novoseek 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)
    About This Section

    PubMed articles for PAK3 gene, integrated from 9 sources (see all 76):
    (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. (1998)
    2. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. (PubMed id 10946356)1, 2, 9 Bienvenu T.... Beldjord C. (2000)
    3. PAK signalling in neuronal physiology. (PubMed id 19036346)1, 2 Kreis P. and Barnier J.V. (2009)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer. (PubMed id 15099969)1, 4 Roh J.W....Lee H.P. (2004)
    7. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (2003)
    8. 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. (2003)
    9. The mechanism of PAK activation. Autophosphorylation events in both regulatory and kinase domains control activity. (PubMed id 11278486)1, 2 Chong C....Manser E. (2001)
    10. Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). (PubMed id 8826460)1, 3 Donnelly A.J....Mulley J.C. (1996)

    (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: 5063 HGNC: 8592 AceView: PAK3 Ensembl:ENSG00000077264 euGenes: HUgn5063
    ECgene: PAK3 Kegg: 5063 H-InvDB: PAK3

    (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 PAK3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAK3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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