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

Gene ID: 5063, updated on 19-Jul-2014
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]
See PAK3 in Epigenomics, MapViewer
Location:
Xq23
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (110944285..111227362)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (110187513..110470590)

Chromosome X - NC_000023.11Genomic 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
X-linked mental retardation 30
MedGen: C0796237 OMIM: 300558 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-10)

ISCA Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2012-05-10)

ISCA Genome Curation PagePubMed
  • 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 ...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
 
Rho GTPase binding IEA
Inferred from Electronic Annotation
more info
 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of actin filament polymerization IDA
Inferred from Direct Assay
more info
 
signal transduction by phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
synapse organization TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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

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 

    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

    See proteins identical to NP_001121638.1

    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
    cd06647
    Location:248540
    Blast Score: 1623
    STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
    smart00220
    Location:268519
    Blast Score: 798
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68113
    Blast Score: 227
    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 ...
  2. NM_001128167.1NP_001121639.1  serine/threonine-protein kinase PAK 3 isoform a

    See proteins identical to NP_001121639.1

    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
    cd06647
    Location:248540
    Blast Score: 1623
    STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
    smart00220
    Location:268519
    Blast Score: 798
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68113
    Blast Score: 227
    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 ...
  3. NM_001128168.1NP_001121640.1  serine/threonine-protein kinase PAK 3 isoform b

    See proteins identical to NP_001121640.1

    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
    cd06647
    Location:284576
    Blast Score: 1623
    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
    cd01093
    Location:68149
    Blast Score: 179
    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 ...
  4. NM_001128172.1NP_001121644.1  serine/threonine-protein kinase PAK 3 isoform c

    See proteins identical to NP_001121644.1

    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
    cd06647
    Location:269561
    Blast Score: 1623
    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
    cd01093
    Location:68134
    Blast Score: 194
    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 ...
  5. NM_001128173.1NP_001121645.1  serine/threonine-protein kinase PAK 3 isoform d

    See proteins identical to NP_001121645.1

    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/Swiss-Prot
    O75914
    Related
    ENSP00000262836, ENST00000262836
    Conserved Domains (3) summary
    cd06647
    Location:263555
    Blast Score: 1622
    STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
    smart00220
    Location:283534
    Blast Score: 798
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68128
    Blast Score: 201
    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 ...
  6. NM_002578.3NP_002569.1  serine/threonine-protein kinase PAK 3 isoform a

    See proteins identical to NP_002569.1

    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
    Conserved Domains (3) summary
    cd06647
    Location:248540
    Blast Score: 1623
    STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
    smart00220
    Location:268519
    Blast Score: 798
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68113
    Blast Score: 227
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    110944285..111227362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724655.1XP_006724718.1  

    See proteins identical to XP_006724718.1

    Conserved Domains (3) summary
    smart00220
    Location:283530
    Blast Score: 772
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68128
    Blast Score: 203
    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 ...
    cl09925
    Location:263530
    Blast Score: 1505
    PKc_like; Protein Kinases, catalytic domain
  2. XM_006724656.1XP_006724719.1  

    See proteins identical to XP_006724719.1

    UniProtKB/Swiss-Prot
    O75914
    Conserved Domains (3) summary
    cd06647
    Location:263555
    Blast Score: 1622
    STKc_PAK_I; Catalytic domain of the Protein Serine/Threonine Kinase, Group I p21-activated kinase
    smart00220
    Location:283534
    Blast Score: 798
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68128
    Blast Score: 201
    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 ...
  3. XM_005262132.1XP_005262189.1  

    See proteins identical to XP_005262189.1

    Conserved Domains (3) summary
    smart00220
    Location:283530
    Blast Score: 772
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68128
    Blast Score: 203
    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 ...
    cl09925
    Location:263530
    Blast Score: 1505
    PKc_like; Protein Kinases, catalytic domain
  4. XM_005262133.2XP_005262190.1  

    Conserved Domains (3) summary
    smart00220
    Location:268515
    Blast Score: 772
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68113
    Blast Score: 229
    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 ...
    cl09925
    Location:248515
    Blast Score: 1505
    PKc_like; Protein Kinases, catalytic domain
  5. XM_006724654.1XP_006724717.1  

    See proteins identical to XP_006724717.1

    Conserved Domains (3) summary
    smart00220
    Location:283530
    Blast Score: 772
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01093
    Location:68128
    Blast Score: 203
    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 ...
    cl09925
    Location:263530
    Blast Score: 1505
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. XR_244474.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000155.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    110098857..110375673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)