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Aliases for PAK3 Gene

Aliases for PAK3 Gene

  • P21 Protein (Cdc42/Rac)-Activated Kinase 3 2 3
  • P21 (CDKN1A)-Activated Kinase 3 2 3
  • P21-Activated Kinase 3 3 4
  • Oligophrenin-3 3 4
  • EC 2.7.11.1 4 63
  • Beta-PAK 3 4
  • MRX30 3 6
  • MRX47 3 6
  • OPHN3 3 4
  • PAK-3 3 4
  • Serine/Threonine-Protein Kinase PAK 3 3
  • Mental Retardation, X-Linked 47 2
  • EC 2.7.11 63
  • PAK3beta 3
  • CDKN1A 3
  • HPAK3 3
  • BPAK 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

  • 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]

GeneCards Summary for PAK3 Gene

PAK3 (P21 Protein (Cdc42/Rac)-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 PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein serine/threonine kinase activity and Rho GTPase binding. 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

Genomic Location for PAK3 Gene

Start:
110,944,285 bp from pter
End:
111,227,362 bp from pter
Size:
283,078 bases
Orientation:
Plus strand

Genomic View for PAK3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PAK3 Gene at MOPED

Post-translational modifications for PAK3 Gene

Antibody Products

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

Domains for PAK3 Gene

Gene 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 :
  • O75914
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:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004702 receptor signaling protein serine/threonine kinase activity IBA --
GO:0004708 MAP kinase kinase activity IDA 21177870
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with PAK3: view
genes like me logo Genes that share phenotypes with PAK3: view

Animal Models for PAK3 Gene

MGI Knock Outs for PAK3:

Animal Model Products

CRISPR Products

miRNA for PAK3 Gene

miRTarBase miRNAs that target PAK3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAK3

In Situ Assay Products

Flow Cytometry Products

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

Localization for PAK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAK3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAK3 Gene COMPARTMENTS Subcellular localization image for PAK3 gene
Compartment Confidence
cytosol 3
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 for PAK3 Gene

SuperPathways for PAK3 Gene

Superpath Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
2 PI-3K cascade
3 Signaling by FGFR
4 Glioma
.51
.43
5 GPCR Pathway
genes like me logo Genes that share pathways with PAK3: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IDA 21177870
GO:0000187 activation of MAPK activity IDA 21177870
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

Compounds for PAK3 Gene

(4) HMDB Compounds for PAK3 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Guanosine triphosphate
  • 5'-GTP
86-01-1
Magnesium
  • Magnesium
7439-95-4

(4) Novoseek inferred chemical compound relationships for PAK3 Gene

Compound -log(P) Hits PubMed IDs
threonine 44.3 1
serine 30.6 1
histidine 20.1 1
phosphatidylinositol 18.2 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAK3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat 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 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 (11.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PAK3 Gene

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 expressions with PAK3: view

In Situ Assay 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 35
  • 99.7 (n)
  • 100 (a)
PAK3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAK3 35
  • 95.52 (n)
  • 99.66 (a)
PAK3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAK3 35
  • 94.66 (n)
  • 99.14 (a)
PAK3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pak3 35
  • 92.63 (n)
  • 98.58 (a)
Pak3 16
Pak3 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAK3 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAK3 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pak3 35
  • 93.01 (n)
  • 98.71 (a)
chicken
(Gallus gallus)
Aves PAK3 35
  • 86.68 (n)
  • 96.24 (a)
PAK3 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAK3 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pak3-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pak3 35
  • 81.84 (n)
  • 95.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pak 36
  • 43 (a)
OneToMany
Pak 37
  • 83 (a)
Pak3 37
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea pak-1 36
  • 56 (a)
OneToMany
C45B11.1b 37
  • 38 (a)
Y38F1A.10 37
  • 59 (a)
C45B11.1a 37
  • 38 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR014W 35
  • 59.33 (n)
  • 61.14 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SKM1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13607g 35
  • 58.72 (n)
  • 57.18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3720 36
  • 60 (a)
OneToMany
Species with no ortholog for PAK3:
  • 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

Selected 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 MAF
rs877509 -- 111,108,227(-) GCAAG(A/C)TATCT intron-variant
rs945885 -- 111,099,092(-) TGGCT(A/G)TTATT intron-variant
rs945886 -- 111,099,088(-) TATTA(G/T)TTGAT intron-variant
rs946454 -- 111,030,809(-) TAAAA(C/T)GTAAT intron-variant
rs946455 -- 111,030,767(-) CATGA(C/T)GTCTT intron-variant

Relevant External Links for PAK3 Gene

HapMap Linkage Disequilibrium report
PAK3
Human Gene Mutation Database (HGMD)
PAK3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PAK3 Gene

Disorders for PAK3 Gene

(1) OMIM Diseases for PAK3 Gene (300142)

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.

(1) University of Copenhagen DISEASES for PAK3 Gene

(1) Novoseek inferred disease relationships for PAK3 Gene

Disease -log(P) Hits PubMed IDs
mental retardation 75 16

Relevant External Links for PAK3

Genetic Association Database (GAD)
PAK3
Human Genome Epidemiology (HuGE) Navigator
PAK3
genes like me logo Genes that share disorders with PAK3: view

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 23
  2. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. (PMID: 10946356) Bienvenu T. … Beldjord C. (Am. J. Med. Genet. 2000) 3 4 23
  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 23 48
  4. 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) 4 23
  5. A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. (PMID: 18523455) Rejeb I. … Bahi-Buisson N. (Eur. J. Hum. Genet. 2008) 3 23

Products for PAK3 Gene

  • Addgene plasmids for PAK3

Sources for PAK3 Gene

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