Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PAK3 (p21 (RAC1) activated kinase 3)

Identity

Alias_namesMRX30
MRX47
mental retardation, X-linked 47
p21 (CDKN1A)-activated kinase 3
p21 protein (Cdc42/Rac)-activated kinase 3
Alias_symbol (synonym)hPAK3
bPAK
Other aliasARA
OPHN3
PAK-3
PAK3beta
beta-PAK
HGNC (Hugo) PAK3
LocusID (NCBI) 5063
Atlas_Id 43392
Location Xq23  [Link to chromosome band Xq23]
Location_base_pair Starts at 111096142 and ends at 111227361 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NUCB2 (11p15.1) / PAK3 (Xq23)TSPAN31 (12q14.1) / PAK3 (Xq23)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PAK3   8592
Cards
Entrez_Gene (NCBI)PAK3  5063  p21 (RAC1) activated kinase 3
AliasesARA; MRX30; MRX47; OPHN3; 
PAK-3; PAK3beta; bPAK; beta-PAK
GeneCards (Weizmann)PAK3
Ensembl hg19 (Hinxton)ENSG00000077264 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000077264 [Gene_View]  ENSG00000077264 [Sequence]  chrX:111096142-111227361 [Contig_View]  PAK3 [Vega]
ICGC DataPortalENSG00000077264
TCGA cBioPortalPAK3
AceView (NCBI)PAK3
Genatlas (Paris)PAK3
WikiGenes5063
SOURCE (Princeton)PAK3
Genetics Home Reference (NIH)PAK3
Genomic and cartography
GoldenPath hg38 (UCSC)PAK3  -     chrX:111096142-111227361 +  Xq23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAK3  -     Xq23   [Description]    (hg19-Feb_2009)
EnsemblPAK3 - Xq23 [CytoView hg19]  PAK3 - Xq23 [CytoView hg38]
Mapping of homologs : NCBIPAK3 [Mapview hg19]  PAK3 [Mapview hg38]
OMIM300142   300558   
Gene and transcription
Genbank (Entrez)AB074169 AB102659 AF068864 AF070581 AF155651
RefSeq transcript (Entrez)NM_001128166 NM_001128167 NM_001128168 NM_001128172 NM_001128173 NM_001324325 NM_001324326 NM_001324327 NM_001324328 NM_001324329 NM_001324330 NM_001324331 NM_001324332 NM_001324333 NM_001324334 NM_002578
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAK3
Cluster EST : UnigeneHs.656789 [ NCBI ]
CGAP (NCI)Hs.656789
Alternative Splicing GalleryENSG00000077264
Gene ExpressionPAK3 [ NCBI-GEO ]   PAK3 [ EBI - ARRAY_EXPRESS ]   PAK3 [ SEEK ]   PAK3 [ MEM ]
Gene Expression Viewer (FireBrowse)PAK3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5063
GTEX Portal (Tissue expression)PAK3
Human Protein AtlasENSG00000077264-PAK3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75914   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75914  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75914
Splice isoforms : SwissVarO75914
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusO75914
Domaine pattern : Prosite (Expaxy)CRIB (PS50108)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)CRIB_dom    CRIB_dom_sf    Kinase-like_dom_sf    PAK2/3    PAK_BD    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    STK_PAK3   
Domain families : Pfam (Sanger)PBD (PF00786)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00786    pfam00069   
Domain families : Smart (EMBL)PBD (SM00285)  S_TKc (SM00220)  
Conserved Domain (NCBI)PAK3
DMDM Disease mutations5063
Blocks (Seattle)PAK3
PDB (RSDB)6FD3   
PDB Europe6FD3   
PDB (PDBSum)6FD3   
PDB (IMB)6FD3   
Structural Biology KnowledgeBase6FD3   
SCOP (Structural Classification of Proteins)6FD3   
CATH (Classification of proteins structures)6FD3   
SuperfamilyO75914
Human Protein Atlas [tissue]ENSG00000077264-PAK3 [tissue]
Peptide AtlasO75914
HPRD02142
IPIIPI00410084   IPI00027382   IPI00930214   IPI00553222   IPI00896377   IPI01015232   
Protein Interaction databases
DIP (DOE-UCLA)O75914
IntAct (EBI)O75914
FunCoupENSG00000077264
BioGRIDPAK3
STRING (EMBL)PAK3
ZODIACPAK3
Ontologies - Pathways
QuickGOO75914
Ontology : AmiGOMAPK cascade  activation of MAPK activity  stimulatory C-type lectin receptor signaling pathway  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  protein binding  ATP binding  cytoplasm  endosome  cytosol  plasma membrane  axonogenesis  positive regulation of fibroblast migration  postsynaptic density  dendrite development  cell migration  SH3 domain binding  signal transduction by protein phosphorylation  regulation of actin filament polymerization  stress-activated protein kinase signaling cascade  T cell costimulation  activation of protein kinase activity  regulation of MAPK cascade  positive regulation of neuron apoptotic process  metal ion binding  ephrin receptor signaling pathway  Rac GTPase binding  regulation of axonogenesis  synapse organization  T cell receptor signaling pathway  dendritic spine morphogenesis  dendritic spine morphogenesis  positive regulation of dendritic spine morphogenesis  cellular response to organic cyclic compound  glutamatergic synapse  positive regulation of DNA biosynthetic process  
Ontology : EGO-EBIMAPK cascade  activation of MAPK activity  stimulatory C-type lectin receptor signaling pathway  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  protein binding  ATP binding  cytoplasm  endosome  cytosol  plasma membrane  axonogenesis  positive regulation of fibroblast migration  postsynaptic density  dendrite development  cell migration  SH3 domain binding  signal transduction by protein phosphorylation  regulation of actin filament polymerization  stress-activated protein kinase signaling cascade  T cell costimulation  activation of protein kinase activity  regulation of MAPK cascade  positive regulation of neuron apoptotic process  metal ion binding  ephrin receptor signaling pathway  Rac GTPase binding  regulation of axonogenesis  synapse organization  T cell receptor signaling pathway  dendritic spine morphogenesis  dendritic spine morphogenesis  positive regulation of dendritic spine morphogenesis  cellular response to organic cyclic compound  glutamatergic synapse  positive regulation of DNA biosynthetic process  
Pathways : KEGGErbB signaling pathway    Ras signaling pathway    Axon guidance    Focal adhesion    T cell receptor signaling pathway    Regulation of actin cytoskeleton    Renal cell carcinoma   
NDEx NetworkPAK3
Atlas of Cancer Signalling NetworkPAK3
Wikipedia pathwaysPAK3
Orthology - Evolution
OrthoDB5063
GeneTree (enSembl)ENSG00000077264
Phylogenetic Trees/Animal Genes : TreeFamPAK3
HOGENOMO75914
Homologs : HomoloGenePAK3
Homology/Alignments : Family Browser (UCSC)PAK3
Gene fusions - Rearrangements
Fusion : QuiverPAK3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAK3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAK3
dbVarPAK3
ClinVarPAK3
1000_GenomesPAK3 
Exome Variant ServerPAK3
ExAC (Exome Aggregation Consortium)ENSG00000077264
GNOMAD BrowserENSG00000077264
Varsome BrowserPAK3
Genetic variants : HAPMAP5063
Genomic Variants (DGV)PAK3 [DGVbeta]
DECIPHERPAK3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAK3 
Mutations
ICGC Data PortalPAK3 
TCGA Data PortalPAK3 
Broad Tumor PortalPAK3
OASIS PortalPAK3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAK3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAK3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PAK3
DgiDB (Drug Gene Interaction Database)PAK3
DoCM (Curated mutations)PAK3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAK3 (select a term)
intoGenPAK3
Cancer3DPAK3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300142    300558   
Orphanet3256   
DisGeNETPAK3
MedgenPAK3
Genetic Testing Registry PAK3
NextProtO75914 [Medical]
TSGene5063
GENETestsPAK3
Target ValidationPAK3
Huge Navigator PAK3 [HugePedia]
snp3D : Map Gene to Disease5063
BioCentury BCIQPAK3
ClinGenPAK3 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5063
Chemical/Pharm GKB GenePA32919
Clinical trialPAK3
Miscellaneous
canSAR (ICR)PAK3 (select the gene name)
DataMed IndexPAK3
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAK3
EVEXPAK3
GoPubMedPAK3
iHOPPAK3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:29:32 CET 2019
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