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FLASH GENE
Symbol PAK3 contributors: mct/npt/pgu - updated : 16-10-2017
HGNC name p21 protein (Cdc42/Rac)-activated kinase 3
HGNC id 8592
Corresponding disease
MRX30 mental retardation, 30
Location Xq23      Physical location : 110.187.512 - 110.464.173
Synonym name
  • p21 (CDKN1A)-activated kinase 3
  • oligophrenin 3
  • mental retardation, X-linked 30
  • Synonym symbol(s) OPHN3, CDKN1A, MRX30, MRX47, PAK3beta, bPAK, hPAK3, ARA, PAK-3beta, beta-PAK,
    EC.number 2.7.11.1
    DNA
    TYPE functioning gene
    STRUCTURE 283.12 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - DXS456 - DXS7756 - PAK3 - DXS7770 - DXS7012E
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2577 - 544 - 2008 18507705
    18 - 2754 - 544 - 2008 18507705
    PAK3a
    15 - 2504 - 544 - 2008 18507705
    16 - 2268 - 580 - 2008 18507705
    PAK3b
    15 - 2223 - 565 - 2008 18507705
    15 - 2205 - 559 - 2008 18507705
    16 - 9115 - 544 - 2008 18507705
    16 - 9112 - 544 - 2008 18507705
    18 - 9178 - 544 - 2008 18507705
    19 - 9220 - 559 - 2008 18507705
    18 - 9072 - 559 - 2008 18507705
    17 - 9027 - 544 - 2008 18507705
    18 - 9153 - 559 - 2008 18507705
    17 - 9108 - 544 - 2008 18507705
    17 - 9005 - 559 - 2008 18507705
    16 - 8960 - 544 - 2008 18507705
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     pancreas   highly
    Hearing/Equilibriumear   highly
    Nervousbrain   moderately Homo sapiensAdult
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiensAdult
    Nervousoligodendrocyte Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text only, in brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a CRIB domain
  • a kinase domain
  • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae Ste20
    homolog to murine Pak3
    homolog to C.elegans c09b8.7
    Homologene
    FAMILY
  • serine/threonine, kinase family
  • ste20 subfamily
  • group I of the PAK family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • p21/Cdc42/Rac1-activated kinase 3, serine/threonine kinase
  • involved in signal transduction for cell shape and motility as well as actin organization
  • acting as a key regulator of synapse formation and plasticity in the hippocampus
  • role for negative regulators of lamellipodial formation, like PAK3, in the maintenance of a poised state, in which regulated directional cell movement can occur
  • cooperate with PAK2, PAK1 kinase, and CHL1, most likely in independent pathways, in regulating morphological development of the leading process/apical dendrite of embryonic cortical neurons
  • having functions in novel signaling pathways in NF2
  • essential role of PAK1 and PAK3 in coordinating neuronal complexity and synaptic properties
  • critical molecule coordinating cytoskeletal systems for efficient cell migration
  • novel function of PAK3 in regulating activity-mediated rearrangement of synaptic connectivity associated with learning and suggest that defects in spine formation and refinement during development could account for intellectual disability
  • PAK1 and PAK3 belong to group I of the PAK family and control cell movement and division
  • PAK3 and PAK1 signaling may be coordinated by heterodimerization
  • MTURN and PAK3, are both required for, and can synergize to promote differentiation of the primary neurons
  • is a novel regulator of pancreatic beta-cell differentiation and function
  • in the adult, PAK3 is required for the proper control of glucose homeostasis under challenging high-fat diet (HFD)
  • functions downstream of guidance receptor signaling to regulate the level and distribution of F-actin in migrating border cells
  • EPHB2, CDC42, and PAK3 are broadly capable of controlling dendritic spine formation and synaptic plasticity and are implicated in multiple cognitive disorders
  • key regulator of actin dynamics, cell proliferation and cell survival
  • developmental and cell-autonomous role for PAK3 in regulating oligodendrocyte precursors (OPCs) differentiation into mature oligodendrocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GTP bounde cdc42/p21 and rac 1
  • phospholipase C-gamma
  • adapter protein nck
  • ARHGEF6 is localized in dendritic spines where it contributes to regulate spine morphogenesis probably by acting through a downstream activation of PAK3
  • interaction with TP53 and SGK2 (loss of TP53 together with either SGK2 or PAK3 loss leads to cell death)
  • down-regulates synaptic transmission through its interaction with NCK2
  • PAK3 is a JUN target required for actin organization and migration observed in transformed cells
  • PAK3 is a novel effector of NEUROG3 endocrinogenic function, known to control neuronal differentiation and implicated in X-linked intellectual disability
  • cell & other
    REGULATION
    inhibited by PAK1, that inhibits the activity of PAK3a but not of the splice variant PAK3b in a trans-regulatory manner
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX30
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurology  
    may serve as a useful therapeutic target in NF2
    cancerreproductiveuterus
    SGK2 and PAK3 may represent targets for TP53-specific cervical carcinomas drug development
    ANIMAL & CELL MODELS