Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.K299R
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PAK1

NM_002576.5:p.K299R

Associated Papers

PAK1 regulates oligodendroglial proliferation and repopulation in homeostatic and demyelinating brain.

Wang Y et al.

Cellular and Molecular Life Sciences : Cmls, 2025

Control of OPC proliferation and repopulation by the intellectual disability gene PAK1 under homeostatic and demyelinating conditions.

Wang Y et al.

Biorxiv : the Preprint Server for Biology, 2024

FilGAP controls cell-extracellular matrix adhesion and process formation of kidney podocytes.

Saito K et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

MICAL1 activation by PAK1 mediates actin filament disassembly.

McGarry DJ et al.

Cell Reports, 2022

Periostin/Filamin-A: A Candidate Central Regulatory Axis for Valve Fibrogenesis and Matrix Compaction.

Misra S et al.

Frontiers in Cell and Developmental Biology, 2021

Insights into evolutionary interaction patterns of the 'Phosphorylation Activation Segment' in kinase.

Ahiri A et al.

Bioinformation, 2019

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Harms FL et al.

American Journal of Human Genetics, 2018

Structures of the inactive and active states of RIP2 kinase inform on the mechanism of activation.

Pellegrini E et al.

Plos One, 2017

PREX1 Protein Function Is Negatively Regulated Downstream of Receptor Tyrosine Kinase Activation by p21-activated Kinases (PAKs).

Barrows D et al.

The Journal of Biological Chemistry, 2016

Identifying three-dimensional structures of autophosphorylation complexes in crystals of protein kinases.

Xu Q et al.

Science Signaling, 2015

Myosin 3A kinase activity is regulated by phosphorylation of the kinase domain activation loop.

Quintero OA et al.

The Journal of Biological Chemistry, 2013

Phosphoproteome analyses reveal specific implications of Hcls1, p21-activated kinase 1 and Ezrin in proliferation of a myeloid progenitor cell line downstream of wild-type and ITD mutant Fms-like tyrosine kinase 3 receptors.

Habif G et al.

Journal of Proteomics, 2013

The p21-activated kinase PAK3 forms heterodimers with PAK1 in brain implementing trans-regulation of PAK3 activity.

Combeau G et al.

The Journal of Biological Chemistry, 2012

Synapses of amphids defective (SAD-A) kinase promotes glucose-stimulated insulin secretion through activation of p21-activated kinase (PAK1) in pancreatic β-Cells.

Nie J et al.

The Journal of Biological Chemistry, 2012

PAK1 is a breast cancer oncogene that coordinately activates MAPK and MET signaling.

Shrestha Y et al.

Oncogene, 2012

The response to PAK1 inhibitor IPA3 distinguishes between cancer cells with mutations in BRAF and Ras oncogenes.

Singhal R et al.

Oncotarget, 2012

Structural insights into the autoactivation mechanism of p21-activated protein kinase.

Wang J et al.

Structure (london, England : 1993), 2011

Novel tumor suppressive function of Smad4 in serum starvation-induced cell death through PAK1-PUMA pathway.

Lee SH et al.

Cell Death & Disease, 2011

p21-Activated kinase 3 (PAK3) protein regulates synaptic transmission through its interaction with the Nck2/Grb4 protein adaptor.

Thévenot E et al.

The Journal of Biological Chemistry, 2011

Nephrin regulates lamellipodia formation by assembling a protein complex that includes Ship2, filamin and lamellipodin.

Venkatareddy M et al.

Plos One, 2011

Identification of novel in vivo phosphorylation sites of the human proapoptotic protein BAD: pore-forming activity of BAD is regulated by phosphorylation.

Polzien L et al.

The Journal of Biological Chemistry, 2009

Rac1 activation inhibits E-cadherin-mediated adherens junctions via binding to IQGAP1 in pancreatic carcinoma cells.

Hage B et al.

Cell Communication and Signaling : Ccs, 2009

PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation.

Gringel A et al.

Journal of Cellular Physiology, 2006

Essential requirement for Rho family GTPase signaling in Pax3 induced mesenchymal-epithelial transition.

Wiggan O et al.

Cellular Signalling, 2006

A dimeric kinase assembly underlying autophosphorylation in the p21 activated kinases.

Pirruccello M et al.

Journal of Molecular Biology, 2006

Role of p21-activated kinase pathway defects in the cognitive deficits of Alzheimer disease.

Zhao L et al.

Nature Neuroscience, 2006

PAK1 regulates myosin II-B phosphorylation, filament assembly, localization and cell chemotaxis.

Even-Faitelson L et al.

Cellular Signalling, 2005

The active conformation of the PAK1 kinase domain.

Lei M et al.

Structure (london, England : 1993), 2005

Increased importin-beta-dependent nuclear import of the actin modulating protein CapG promotes cell invasion.

De Corte V et al.

Journal of Cell Science, 2004

Association of PI-3 kinase with PAK1 leads to actin phosphorylation and cytoskeletal reorganization.

Papakonstanti EA et al.

Molecular Biology of the Cell, 2002

Cell cycle-regulated phosphorylation of p21-activated kinase 1.

Thiel DA et al.

Current Biology : Cb, 2002

Pak1 kinase homodimers are autoinhibited in trans and dissociated upon activation by Cdc42 and Rac1.

Parrini MC et al.

Molecular Cell, 2002

p21-activated kinase-1 (PAK1) inhibition of the human scavenger receptor class B, type I promoter in macrophages is independent of PAK1 kinase activity, but requires the GTPase-binding domain.

Hullinger TG et al.

The Journal of Biological Chemistry, 2001

Structure of PAK1 in an autoinhibited conformation reveals a multistage activation switch.

Lei M et al.

Cell, 2000

In vivo activity of wild-type and mutant PAKs.

King CC et al.

Methods in Enzymology, 2000

Cdc42: An essential Rho-type GTPase controlling eukaryotic cell polarity.

Johnson DI

Microbiology and Molecular Biology Reviews : Mmbr, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."