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Aliases for PAK3 Gene

Aliases for PAK3 Gene

  • P21 (RAC1) Activated Kinase 3 2 3 5
  • P21 Protein (Cdc42/Rac)-Activated Kinase 3 2 3
  • P21 (CDKN1A)-Activated Kinase 3 2 3
  • Oligophrenin-3 3 4
  • EC 2.7.11.1 4 61
  • Beta-PAK 3 4
  • OPHN3 3 4
  • PAK-3 3 4
  • Serine/Threonine-Protein Kinase PAK 3 3
  • Adriamycin Resistance-Associated 3
  • Mental Retardation, X-Linked 47 2
  • P21-Activated Kinase 3 4
  • EC 2.7.11 61
  • PAK3beta 3
  • MRX30 3
  • MRX47 3
  • BPAK 3
  • ARA 3

External Ids for PAK3 Gene

Previous HGNC Symbols for PAK3 Gene

  • MRX30
  • MRX47

Previous GeneCards Identifiers for PAK3 Gene

  • GC0XP105669
  • GC0XP107513
  • GC0XP108364
  • GC0XP109130
  • GC0XP110054
  • GC0XP110226
  • GC0XP099807

Summaries for PAK3 Gene

Entrez Gene Summary for PAK3 Gene

  • The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. 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, Apr 2016]

GeneCards Summary for PAK3 Gene

PAK3 (P21 (RAC1) Activated Kinase 3) is a Protein Coding gene. Diseases associated with PAK3 include Mental Retardation, X-Linked 30/47 and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are CD28 co-stimulation and EPHA forward signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PAK1.

UniProtKB/Swiss-Prot for PAK3 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAK3 Gene

Genomics for PAK3 Gene

Regulatory Elements for PAK3 Gene

Enhancers for PAK3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF111323 0.4 FANTOM5 1.3 +379.3 379262 0.2 ATF2 DCX PAK3 GC0XP111369 CAPN6
GH0XF110944 0.5 ENCODE 0.8 +0.6 550 1.6 RFX1 CTBP1 POLR2A PAK3 GC0XP110985
GH0XF110942 0.2 ENCODE 0.8 -2.1 -2138 0.2 PAK3 GC0XM110844
GH0XF110939 0.2 ENCODE 0.8 -4.7 -4748 0.1 PAK3 GC0XM110844
GH0XF110964 0.5 ENCODE 0.3 +20.9 20922 2.1 POLR2A CTBP2 KDM1A PAK3 GC0XP110985
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PAK3 on UCSC Golden Path with GeneCards custom track

Promoters for PAK3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001918372 516 1199 ZNF146 CTBP1

Genomic Location for PAK3 Gene

Chromosome:
X
Start:
110,944,285 bp from pter
End:
111,227,361 bp from pter
Size:
283,077 bases
Orientation:
Plus strand

Genomic View for PAK3 Gene

Genes around PAK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAK3 Gene

Proteins for PAK3 Gene

  • Protein details for PAK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75914-PAK3_HUMAN
    Recommended name:
    Serine/threonine-protein kinase PAK 3
    Protein Accession:
    O75914
    Secondary Accessions:
    • A8K389
    • B1GX77
    • B1GX78
    • B1GX79
    • Q5JWX1
    • Q5JWX2
    • Q7Z2D6
    • Q7Z2E4
    • Q7Z3Z8
    • Q8WWK5
    • Q8WX23
    • Q9P0J8

    Protein attributes for PAK3 Gene

    Size:
    559 amino acids
    Molecular mass:
    62310 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • 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.

    Alternative splice isoforms for PAK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAK3 Gene

Selected DME Specific Peptides for PAK3 Gene

O75914:
  • EGEPPYL
  • VAIKQMNL
  • QIAAVCRECLQAL
  • KLTDFGFCA
  • DSKETVN
  • MAPEVVTR
  • NEILVMR
  • PEQWARLLQTSNITK
  • NEPPPVIAPRPEHTKSIYTRSVVESIASPA
  • FRDFLNRCLEMDV
  • PPSAENANS
  • KIGQGASG
  • GQEVAIK
  • GPKVDIW
  • NPQAVLD
  • DFGFCAQ
  • NIVNYLDSYLV
  • GDKTNKK
  • GTPYWMAPEVV
  • QPKKELI
  • MDGSVKL
  • AKPLSSLTPL
  • FEHTIHVG
  • DEEILEKLRSIVSVGDPKKKYT
  • WSLGIMAIEM
  • GTPYWMAPE
  • KVDIWSLGIMA
  • EGQIAAV
  • GGSLTDV
  • SYLVGDELWVVME
  • ALYLIATNGTP
  • TKTASEPPLAPPVSEEEDEEEEEEED
  • IHRDIKSDN

Post-translational modifications for PAK3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PAK3 (PAK3)
  • Abcam antibodies for PAK3

Domains & Families for PAK3 Gene

Suggested Antigen Peptide Sequences for PAK3 Gene

Graphical View of Domain Structure for InterPro Entry

O75914

UniProtKB/Swiss-Prot:

PAK3_HUMAN :
  • Contains 1 CRIB domain.
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
Domain:
  • Contains 1 CRIB domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
genes like me logo Genes that share domains with PAK3: view

Function for PAK3 Gene

Molecular function for PAK3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
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).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PAK3 Gene

Gene Ontology (GO) - Molecular Function for PAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,TAS --
GO:0004702 signal transducer, downstream of receptor, with serine/threonine kinase activity IBA --
genes like me logo Genes that share ontologies with PAK3: view
genes like me logo Genes that share phenotypes with PAK3: view

Human Phenotype Ontology for PAK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAK3 Gene

MGI Knock Outs for PAK3:

Animal Model Products

  • Taconic Biosciences Mouse Models for PAK3

Clone Products

  • Addgene plasmids for PAK3

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PAK3 Gene

Localization for PAK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAK3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAK3 gene
Compartment Confidence
cytosol 5
plasma membrane 4
endosome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PAK3: view

Pathways & Interactions for PAK3 Gene

genes like me logo Genes that share pathways with PAK3: view

SIGNOR curated interactions for PAK3 Gene

Activates:
Inactivates:
Other effect:

Gene Ontology (GO) - Biological Process for PAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0000187 activation of MAPK activity IEA --
GO:0000278 NOT mitotic cell cycle IBA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with PAK3: view

Drugs & Compounds for PAK3 Gene

(6) Drugs for PAK3 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
FRAX597 Pharma PAK inhibitor,potent and ATP-competitive 0
Magnesium Nutra 0

(1) Additional Compounds for PAK3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for PAK3 Gene

Compound Action Cas Number
FRAX597 PAK inhibitor,potent and ATP-competitive 1286739-19-2
genes like me logo Genes that share compounds with PAK3: view

Transcripts for PAK3 Gene

Unigene Clusters for PAK3 Gene

P21 protein (Cdc42/Rac)-activated kinase 3:
Representative Sequences:

Clone Products

  • Addgene plasmids for PAK3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAK3 Gene

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: - - - - - -
SP6: -
SP7:
SP8:
SP9: - - - - - - -

Relevant External Links for PAK3 Gene

GeneLoc Exon Structure for
PAK3
ECgene alternative splicing isoforms for
PAK3

Expression for PAK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAK3 Gene

This gene is overexpressed in Pancreas (x11.0).

Protein differential expression in normal tissues from HIPED for PAK3 Gene

This gene is overexpressed in Fetal Brain (33.4), Brain (17.2), and Frontal cortex (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PAK3 Gene



Protein tissue co-expression partners for PAK3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAK3 Gene:

PAK3

SOURCE GeneReport for Unigene cluster for PAK3 Gene:

Hs.656789

mRNA Expression by UniProt/SwissProt for PAK3 Gene:

O75914-PAK3_HUMAN
Tissue specificity: Restricted to the nervous system. Highly expressed in postmitotic neurons of the developing and postnatal cerebral cortex and hippocampus.
genes like me logo Genes that share expression patterns with PAK3: view

Primer Products

Orthologs for PAK3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PAK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAK3 34 35
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia PAK3 34 35
  • 95.52 (n)
dog
(Canis familiaris)
Mammalia PAK3 34 35
  • 94.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAK3 35
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pak3 34
  • 93.01 (n)
oppossum
(Monodelphis domestica)
Mammalia PAK3 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pak3 34 16 35
  • 92.63 (n)
chicken
(Gallus gallus)
Aves PAK3 34 35
  • 86.68 (n)
lizard
(Anolis carolinensis)
Reptilia PAK3 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pak3 34
  • 81.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia pak3-A 34
fruit fly
(Drosophila melanogaster)
Insecta Pak 36 35
  • 83 (a)
Pak3 36
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea Y38F1A.10 36
  • 59 (a)
pak-1 35
  • 56 (a)
OneToMany
C45B11.1a 36
  • 38 (a)
C45B11.1b 36
  • 38 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR014W 34
  • 59.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13607g 34
  • 58.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SKM1 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3720 35
  • 60 (a)
OneToMany
Species where no ortholog for PAK3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for PAK3 Gene

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

Paralogs for PAK3 Gene

Paralogs for PAK3 Gene

(18) SIMAP similar genes for PAK3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PAK3: view

Variants for PAK3 Gene

Sequence variations from dbSNP and Humsavar for PAK3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs121434612 Mental retardation, X-linked 30 (MRX30) [MIM:300558], Pathogenic 111,142,119(+) AAGAG(C/T)GCCCA nc-transcript-variant, reference, missense
rs121434613 Mental retardation, X-linked 30 (MRX30) [MIM:300558], Pathogenic 111,194,402(+) GATAG(A/C)AGCTG nc-transcript-variant, reference, missense
VAR_046764 A colorectal adenocarcinoma sample
rs121434611 Pathogenic 111,196,488(+) GTAAA(C/T)GAAGC nc-transcript-variant, reference, stop-gained
rs121434614 Pathogenic 111,196,570(+) TATCT(C/G)GTCTC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PAK3 Gene

Variant ID Type Subtype PubMed ID
esv3361732 OTHER inversion 20981092
esv3574302 CNV loss 25503493
esv3577043 CNV gain 25503493
esv3577044 CNV gain 25503493

Variation tolerance for PAK3 Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAK3 Gene

Human Gene Mutation Database (HGMD)
PAK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAK3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAK3 Gene

Disorders for PAK3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PAK3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PAK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAK3_HUMAN
  • 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. {ECO:0000269 PubMed:10946356, ECO:0000269 PubMed:12884430, ECO:0000269 PubMed:9731525}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PAK3

Genetic Association Database (GAD)
PAK3
Human Genome Epidemiology (HuGE) Navigator
PAK3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAK3
genes like me logo Genes that share disorders with PAK3: view

No data available for Genatlas for PAK3 Gene

Publications for PAK3 Gene

  1. PAK3 mutation in nonsyndromic X-linked mental retardation. (PMID: 9731525) Allen K.M. … Walsh C.A. (Nat. Genet. 1998) 2 3 4 22 64
  2. The four mammalian splice variants encoded by the p21-activated kinase 3 gene have different biological properties. (PMID: 18507705) Kreis P. … Barnier J.V. (J. Neurochem. 2008) 3 4 22 64
  3. Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment. (PMID: 18805672) Morrow E.M. … Walsh C.A. (Schizophr. Res. 2008) 3 22 46 64
  4. DNA synthesis and neuronal apoptosis caused by familial Alzheimer disease mutants of the amyloid precursor protein are mediated by the p21 activated kinase PAK3. (PMID: 12890786) McPhie D.L. … Neve R.L. (J. Neurosci. 2003) 3 4 22 64
  5. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. (PMID: 10946356) Bienvenu T. … Beldjord C. (Am. J. Med. Genet. 2000) 3 4 22 64

Products for PAK3 Gene

Sources for PAK3 Gene

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