PAK3 (p21 (RAC1) activated kinase 3)

2006-10-01  

Identity

HGNC
LOCATION
Xq23
LOCUSID
ALIAS
ARA,MRX30,MRX47,OPHN3,PAK-3,PAK3beta,bPAK,beta-PAK
FUSION GENES

Other Information

Locus ID:

NCBI: 5063
MIM: 300142
HGNC: 8592
Ensembl: ENSG00000077264

Variants:

dbSNP: 5063
ClinVar: 5063
TCGA: ENSG00000077264
COSMIC: PAK3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000077264ENST00000262836O75914
ENSG00000077264ENST00000360648O75914
ENSG00000077264ENST00000372007O75914
ENSG00000077264ENST00000372010O75914
ENSG00000077264ENST00000417227O75914
ENSG00000077264ENST00000425146O75914
ENSG00000077264ENST00000429193B1AKS5
ENSG00000077264ENST00000446737O75914
ENSG00000077264ENST00000518291O75914
ENSG00000077264ENST00000519681O75914
ENSG00000077264ENST00000620137A0A087X294

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
ErbB signaling pathwayKEGGko04012
Axon guidanceKEGGko04360
Focal adhesionKEGGko04510
T cell receptor signaling pathwayKEGGko04660
Regulation of actin cytoskeletonKEGGko04810
Renal cell carcinomaKEGGko05211
ErbB signaling pathwayKEGGhsa04012
Axon guidanceKEGGhsa04360
Focal adhesionKEGGhsa04510
T cell receptor signaling pathwayKEGGhsa04660
Regulation of actin cytoskeletonKEGGhsa04810
Renal cell carcinomaKEGGhsa05211
Ras signaling pathwayKEGGhsa04014
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Generation of second messenger moleculesREACTOMER-HSA-202433
Costimulation by the CD28 familyREACTOMER-HSA-388841
CD28 co-stimulationREACTOMER-HSA-389356
CD28 dependent Vav1 pathwayREACTOMER-HSA-389359
Innate Immune SystemREACTOMER-HSA-168249
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CD209 (DC-SIGN) signalingREACTOMER-HSA-5621575
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated vascular permeabilityREACTOMER-HSA-5218920
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK6/MAPK4 signalingREACTOMER-HSA-5687128
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases activate PAKsREACTOMER-HSA-5627123
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Semaphorin interactionsREACTOMER-HSA-373755
Sema3A PAK dependent Axon repulsionREACTOMER-HSA-399954
Signaling by Robo receptorREACTOMER-HSA-376176
Activation of RacREACTOMER-HSA-428540
EPH-Ephrin signalingREACTOMER-HSA-2682334
Ephrin signalingREACTOMER-HSA-3928664

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
155747322004The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus.66
259811712015Altered expression of CDC42 signaling pathway components in cortical layer 3 pyramidal cells in schizophrenia.37
256667572015Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.31
255967442015Group I Paks as therapeutic targets in NF2-deficient meningioma.15
124646192003A new constitutively active brain PAK3 isoform displays modified specificities toward Rac and Cdc42 GTPases.13
150999692004p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer.12
185234552008A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.9
284817302017Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.9
219491272011p21-Activated kinase 3 (PAK3) protein regulates synaptic transmission through its interaction with the Nck2/Grb4 protein adaptor.8
209601002010p21-activated kinase 3 is overexpressed in thymic neuroendocrine tumors (carcinoids) with ectopic ACTH syndrome and participates in cell migration.7

Citation

Dessen P

PAK3 (p21 (RAC1) activated kinase 3)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43392/pak3