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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Cdc42 guanine nucleotide exchange factor

collybistin, ARHGEF9, hPEM-2
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: Gephyrin, Rdl, Cdc42, Rhodopsin, ACID
Papers on collybistin
Specificity of Collybistin-Phosphoinositide Interactions: IMPACT OF THE INDIVIDUAL PROTEIN DOMAINS.
New
Steinem et al., Göttingen, Germany. In J Biol Chem, Feb 2016
The regulatory protein collybistin (CB) recruits the receptor-scaffolding protein gephyrin to mammalian inhibitory glycinergic and GABAergic postsynaptic membranes in nerve cells.
Inter-kingdom Signaling by the Legionella Quorum Sensing Molecule LAI-1 Modulates Cell Migration through an IQGAP1-Cdc42-ARHGEF9-Dependent Pathway.
New
Hilbi et al., München, Germany. In Plos Pathog, Dec 2015
LAI-1-dependent inhibition of cell migration involved the scaffold protein IQGAP1, the small GTPase Cdc42 as well as the Cdc42-specific guanine nucleotide exchange factor ARHGEF9, but not other modulators of Cdc42, or RhoA, Rac1 or Ran GTPase.
A conformational switch in collybistin determines the differentiation of inhibitory postsynapses.
Brose et al., Göttingen, Germany. In Embo J, 2014
Receptor recruitment to inhibitory GABAergic and glycinergic synapses is controlled by the scaffold protein gephyrin and the adaptor protein collybistin.
Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.
Papadopoulos et al., Göttingen, Germany. In Proc Natl Acad Sci U S A, 2014
In many brain regions, gephyrin and GABAA receptor clustering at developing inhibitory synapses depends on the guanine nucleotide exchange factor collybistin (Cb).
Glycine receptor mouse mutants: model systems for human hyperekplexia.
Review
Villmann et al., Würzburg, Germany. In Br J Pharmacol, 2013
Mutations in genes encoding for glycine receptor subunits or associated proteins, such as GLRA1, GLRB, GPHN and ARHGEF9, have been detected in patients suffering from hyperekplexia.
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Scherer et al., Toronto, Canada. In Hum Mol Genet, 2013
Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins (NLGN2, NLGN4), the neurexins (NRXN1, NRXN2, NRXN3) and collybistin (ARHGEF9).
Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes.
Poot et al., Utrecht, Netherlands. In Mol Syndromol, 2013
ARHGEF9 encodes collybistin (CB), which is required for localization of the inhibitory receptor-anchoring protein gephyrin and for formation and maintenance of postsynaptic GABAA and glycine receptors.
CHD1L: a novel oncogene.
Review
Xu et al., Nanjing, China. In Mol Cancer, 2012
The underlying mechanisms of CHD1L activation may disrupt the cell death program via binding the apoptotic protein Nur77 or through activation of the AKT pathway by up-regulation of CHD1L-mediated target genes (e.g., ARHGEF9, SPOCK1 or TCTP).
Reconstruction of an integrated genome-scale co-expression network reveals key modules involved in lung adenocarcinoma.
Masoudi-Nejad et al., Tehrān, Iran. In Plos One, 2012
In few modules, the genes such as CCNA2 (Cyclin A2), CCNB2 (Cyclin B2), CDK1, CDK5, CDC27, CDCA5, CDCA8, ASPM, BUB1, KIF15, KIF2C, NEK2, NUSAP1, PRC1, SMC4, SYCE2, TFDP1, CDC42 and ARHGEF9 are present that play a crucial role in cell cycle progression.
Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
GeneRIF
Kirsch et al., Heidelberg, Germany. In J Biol Chem, 2012
Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
Molecular and functional heterogeneity of GABAergic synapses.
Review
Tyagarajan et al., Zürich, Switzerland. In Cell Mol Life Sci, 2012
In this review, we discuss recent results derived mainly from the analysis of mutant mice lacking a specific GABA(A) receptor subtype or a core protein of the GABAergic postsynaptic density (neuroligin-2, collybistin), highlighting the molecular diversity of GABAergic synapses and its relevance for brain plasticity and function.
Effects of distinct collybistin isoforms on the formation of GABAergic synapses in hippocampal neurons.
GeneRIF
Kuhse et al., Heidelberg, Germany. In Mol Cell Neurosci, 2012
Collybistin (Cb) knock-down induced impairment in GABAergic neurotransmission could be rescued by the expression of any of the Cb isoforms, independent of their C-termini or the presence of the SH3-domain in the N-terminal region.
Selective localization of collybistin at a subset of inhibitory synapses in brain circuits.
GeneRIF
Sassoè-Pognetto et al., Torino, Italy. In J Comp Neurol, 2012
data show that collybistin co-clusters with gephyrin and GABA(A) Rs in synaptic puncta and is recruited to postsynaptic specializations early during synapse development; it co-localizes with GABA(A) Rs containing the alpha1, alpha2, or alpha3 subunits
A novel syndrome of lethal familial hyperekplexia associated with brain malformation.
Alkuraya et al., Riyadh, Saudi Arabia. In Bmc Neurol, 2011
The disorder results from aberrant glycinergic neurotransmission, and several mutations were reported in the genes encoding glycine receptor (GlyR) α1 and β subunits, glycine transporter GlyT2 as well as two other proteins involved in glycinergic neurotransmission gephyrin and collybistin.
Gs and Gq signalings regulate hPEM-2-induced cell responses in Neuro-2a cells.
GeneRIF
Ueda et al., Gifu, Japan. In Biochem Biophys Res Commun, 2011
These results reveal that G(s) and G(q) signalings regulate hPEM-2 functions through PKA and c-Src in Neuro-2a neuroblastoma cells, respectively.
Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses.
GeneRIF
Fritschy et al., Zürich, Switzerland. In J Cell Sci, 2011
major regulator of GABAergic postsynaptic gephyrin clustering
The genetics of hyperekplexia: more than startle!
Review
Rees et al., London, United Kingdom. In Trends Genet, 2008
Genetic analysis of this disorder has revealed mutations in genes for several postsynaptic proteins involved in glycinergic neurotransmission, including the glycine receptor (GlyR) alpha1 and beta subunits, gephyrin and collybistin.
Hyperekplexia
Review
Rees et al., Seattle, United States. In Unknown Journal, 2007
The other genes in which mutation is causative are: SLC6A5, encoding the presynaptic sodium- and chloride-dependent glycine transporter 2 (GlyT2); GLRB, encoding glycine receptor subunit beta; GPHN, encoding the glycinergic clustering molecule, gephyrin; and ARHGEF9, encoding collybistin.
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Impact
Harvey et al., Swansea, United Kingdom. In Nat Genet, 2006
Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR beta subunit (GLRB), gephyrin (GPHN) and RhoGEF collybistin (ARHGEF9).
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