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    PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 [ Homo sapiens ]

    Gene ID: 5063, updated on 19-May-2012

    Summary

    Official Symbol
    PAK3provided by HGNC
    Official Full Name
    p21 protein (Cdc42/Rac)-activated kinase 3provided by HGNC
    Primary source
    HGNC:8592
    Locus tag
    RP5-914P14.3
    See related
    Ensembl:ENSG00000077264; HPRD:02142; MIM:300142; Vega:OTTHUMG00000022202
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    bPAK; MRX30; MRX47; OPHN3; hPAK3; CDKN1A; PAK3beta
    Summary
    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]

    Genomic context

    Location :
    Xq23
    Sequence :
    Chromosome: X; NC_000023.10 (110187513..110464173)
    See PAK3 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene mannose-6-phosphate receptor (cation dependent) pseudogene Neighboring gene chordin-like 1 Neighboring gene glutamate dehydrogenase 1 pseudogene 9 Neighboring gene calpain 6

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002569.1 NP_057864.1 tax    BIND  PubMed Tax interacts with PAK3. 
    O75914 Q15052 ARHGEF6    HPRD  PubMed  
    O75914 Q14155 ARHGEF7    HPRD  PubMed  
    O75914 Q9Y2X7 GIT1    HPRD  PubMed  
    O75914 Q14161 GIT2    HPRD  PubMed  
    O75914 Q9UM54 MYO6    HPRD  PubMed  
    O75914 P16333 NCK1    HPRD  PubMed  
    O75914 O75914 PAK3    HPRD  PubMed  
    O75914 P49023 PXN    HPRD  PubMed  
    O75914 P04049 RAF1    HPRD  PubMed  
    O75914 P17600 SYN1    HPRD  PubMed  
    BioGRID:111099 BioGRID:114393 ARHGEF7    BioGRID  PubMed Two-hybrid 
    BioGRID:111099 BioGRID:107433 CDC42    BioGRID  PubMed Two-hybrid 
    BioGRID:111099 BioGRID:110815 NEDD8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111099 BioGRID:111817 RAC1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:111099 BioGRID:112506 SNCA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111099 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Activation of Rac, organism-specific biosystem (from REACTOME)
      Activation of Rac, organism-specific biosystemA low level of Rac activity is essential to maintain axon outgrowth and Robo activation recruits Sos, a dual specificity GEF to the plasma membrane via Dock to activate Rac during midline repulsion.
    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • ErbB signaling pathway, organism-specific biosystem (from KEGG)
      ErbB signaling pathway, organism-specific biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
    • ErbB signaling pathway, conserved biosystem (from KEGG)
      ErbB signaling pathway, conserved biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystem
      Regulation of Actin Cytoskeleton
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Regulation of p38-alpha and p38-beta, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of p38-alpha and p38-beta, organism-specific biosystem
      Regulation of p38-alpha and p38-beta
    • Renal cell carcinoma, organism-specific biosystem (from KEGG)
      Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Renal cell carcinoma, conserved biosystem (from KEGG)
      Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Signaling by Robo receptor, organism-specific biosystem (from REACTOME)
      Signaling by Robo receptor, organism-specific biosystemThe Roundabout (Robo) family encodes transmembrane receptors that regulate axonal guidance and cell migration. The major function of the Robo receptors is to mediate repulsion of the navigating growt...
    • T cell receptor signaling pathway, organism-specific biosystem (from KEGG)
      T cell receptor signaling pathway, organism-specific biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
    • T cell receptor signaling pathway, conserved biosystem (from KEGG)
      T cell receptor signaling pathway, conserved biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    MAP kinase kinase activity IDA
    Inferred from Direct Assay
    more info
     
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    MAPK cascade IDA
    Inferred from Direct Assay
    more info
     
    activation of MAPK activity IDA
    Inferred from Direct Assay
    more info
     
    axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendritic spine morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
     
    synapse organization TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    serine/threonine-protein kinase PAK 3
    Names
    serine/threonine-protein kinase PAK 3
    PAK-3
    beta-PAK
    oligophrenin-3
    p21-activated kinase 3
    p21 (CDKN1A)-activated kinase 3
    NP_001121638.1
    NP_001121639.1
    NP_001121640.1
    NP_001121644.1
    NP_001121645.1
    NP_002569.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008288.1 RefSeqGene

      Range
      5001..281661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128166.1NP_001121638.1  serine/threonine-protein kinase PAK 3 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript but encodes the shortest isoform (a). Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AK290504, AK315284, BC117353, DB563607
      Consensus CDS
      CCDS14554.1
      UniProtKB/TrEMBL
      B2RCU6
      UniProtKB/Swiss-Prot
      O75914
      Related
      ENSP00000410853, ENST00000446737
      Conserved Domains (3) summary
      cd01093
      Location:68113
      Blast Score: 196
      CRIB_PAK_like; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
      cd06647
      Location:248540
      Blast Score: 1597
      STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
      smart00220
      Location:268519
      Blast Score: 794
      S_TKc; Serine/Threonine protein kinases, catalytic domain
    2. NM_001128167.1NP_001121639.1  serine/threonine-protein kinase PAK 3 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AK290504, BC117353, DB563607
      Consensus CDS
      CCDS14554.1
      UniProtKB/Swiss-Prot
      O75914
      Related
      ENSP00000401982, ENST00000425146
      Conserved Domains (3) summary
      cd01093
      Location:68113
      Blast Score: 196
      CRIB_PAK_like; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
      cd06647
      Location:248540
      Blast Score: 1597
      STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
      smart00220
      Location:268519
      Blast Score: 794
      S_TKc; Serine/Threonine protein kinases, catalytic domain
    3. NM_001128168.1NP_001121640.1  serine/threonine-protein kinase PAK 3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and contains an additional segment in the coding region compared to variant 1. It encodes isoform b which is longer than isoform a.
      Source sequence(s)
      AK290504, AM943852, BC117353, DB563607
      Consensus CDS
      CCDS48151.1
      UniProtKB/Swiss-Prot
      O75914
      Related
      ENSP00000353864, ENST00000360648
      Conserved Domains (3) summary
      cd01093
      Location:68149
      Blast Score: 149
      CRIB_PAK_like; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
      cd06647
      Location:284576
      Blast Score: 1597
      STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
      smart00220
      Location:304555
      Blast Score: 798
      S_TKc; Serine/Threonine protein kinases, catalytic domain
    4. NM_001128172.1NP_001121644.1  serine/threonine-protein kinase PAK 3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and contains an additional segment in the coding region compared to variant 1. It encodes isoform c which is longer than isoform a.
      Source sequence(s)
      AK290504, AM943852, BC117353, DB563607
      Consensus CDS
      CCDS48152.1
      UniProtKB/Swiss-Prot
      O75914
      Related
      ENSP00000389172, ENST00000417227
      Conserved Domains (3) summary
      cd01093
      Location:68134
      Blast Score: 163
      CRIB_PAK_like; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
      cd06647
      Location:269561
      Blast Score: 1598
      STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
      smart00220
      Location:289540
      Blast Score: 798
      S_TKc; Serine/Threonine protein kinases, catalytic domain
    5. NM_001128173.1NP_001121645.1  serine/threonine-protein kinase PAK 3 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and contains an additional segment in the coding region compared to variant 1. It encodes isoform d which is longer than isoform a.
      Source sequence(s)
      AK290504, AM943852, BC117353, DB563607
      Consensus CDS
      CCDS48153.1
      UniProtKB/TrEMBL
      B1GX77
      UniProtKB/Swiss-Prot
      O75914
      Related
      ENSP00000262836, ENST00000262836
      Conserved Domains (3) summary
      cd01093
      Location:68128
      Blast Score: 171
      CRIB_PAK_like; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
      cd06647
      Location:263555
      Blast Score: 1597
      STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
      smart00220
      Location:283534
      Blast Score: 794
      S_TKc; Serine/Threonine protein kinases, catalytic domain
    6. NM_002578.3NP_002569.1  serine/threonine-protein kinase PAK 3 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AK290504, BC117353, DA022842, DA957724, DB563607
      Consensus CDS
      CCDS14554.1
      UniProtKB/Swiss-Prot
      O75914
      Related
      ENSP00000361077, OTTHUMP00000023855, ENST00000372007, OTTHUMT00000057917
      Conserved Domains (3) summary
      cd01093
      Location:68113
      Blast Score: 196
      CRIB_PAK_like; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
      cd06647
      Location:248540
      Blast Score: 1597
      STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
      smart00220
      Location:268519
      Blast Score: 794
      S_TKc; Serine/Threonine protein kinases, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      110187513..110464173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      99807691..100086683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB102251.1 BAC80750.1
    genomic AB102252.1 BAC80751.1
    genomic AB102253.1 BAC80752.1
    genomic AB102254.1 BAC80753.1
    genomic AB102255.1 BAC80754.1
    genomic AB102256.1 BAC80755.1
    genomic AB102257.1 BAC80756.1
    genomic AB102258.1 BAC80757.1
    genomic AB102259.1 BAC80758.1
    genomic AB102260.1 BAC80759.1
    genomic AB102261.1 BAC80760.1
    genomic AB102262.1 BAC80761.1
    genomic AB102263.1 BAC80762.1
    genomic AB102264.1 BAC80763.1
    genomic AB102265.1 BAC80764.1
    genomic AB102266.1 BAC80765.1
    genomic AB102267.1 BAC80766.1
    genomic AB102268.1 BAC80767.1
    genomic AB102269.1 BAC80768.1
    genomic AB102270.1 BAC80769.1
    genomic AB102281.1 BAC80780.1
    genomic AB102282.1 BAC80781.1
    genomic AB102283.1 BAC80782.1
    genomic AB102284.1 BAC80783.1
    genomic AB102285.1 BAC80784.1
    genomic AB102286.1 BAC80785.1
    genomic AB102287.1 BAC80786.1
    genomic AB102288.1 BAC80787.1
    genomic AB102289.1 BAC80788.1
    genomic AB102290.1 BAC80789.1
    genomic AB102291.1 BAC80790.1
    genomic AB102292.1 BAC80791.1
    genomic AB102293.1 BAC80792.1
    genomic AB102294.1 BAC80793.1
    genomic AB102295.1 BAC80794.1
    genomic AB102296.1 BAC80795.1
    genomic AB102297.1 BAC80796.1
    genomic AB102298.1 BAC80797.1
    genomic AB102299.1 BAC80798.1
    genomic AB102300.1 BAC80799.1
    genomic AL031117.1 CAI43157.1
      CAI43158.1
    genomic AL117326.5 CAI43167.1
      CAI43168.1
      CAI43169.1
    genomic AL117326.5 CAI43167.1
      CAI43168.1
      CAI43169.1
    genomic AL356578.22 (2717..33431) None
    genomic AL357774.11 CAI40843.1
      CAI40844.1
      CAI40845.1
    genomic AL357774.11 CAI40843.1
      CAI40844.1
      CAI40845.1
    genomic AL590809.5 None
    genomic CH471120.2 EAX02653.1
      EAX02654.1
    mRNA AB102659.1 BAC81128.1
    mRNA AF068864.1 AAC36097.1
    mRNA AF155651.1 AAF67008.1
    mRNA AI298548.1 None
    mRNA AK128022.1 None
    mRNA AK290504.1 BAF83193.1
    mRNA AK315284.1 BAG37693.1
    mRNA AM943850.1 CAQ16016.1
    mRNA AM943851.1 CAQ16017.1
    mRNA AM943852.1 CAQ16018.1
    mRNA BC117353.1 None
    mRNA BC117355.1 None
    mRNA BC143544.1 None
    mRNA BQ268758.1 None
    mRNA DA022842.1 None
    mRNA DA957724.1 None
    mRNA DB563607.2 None
    other-genetic BC152761.1 AAI52762.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75914.2 GenPept UniProtKB/Swiss-Prot:O75914

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