ARHGEF9 Antibody

Product name : ARHGEF9 Antibody

Catalog number : abx007184

Supplier : abbex

Price : 423 EUR

Size : 50 μl

More about:

Concept : Scope note: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.

Discovery year : 2011-06-08

Entrez Gene : Cdc42 guanine nucleotide exchange factor 9  (ARHGEF9)

Gene : ARHGEF9-IT1

Gene ontology - Biological process : positive regulation of GTPase activity regulation of small GTPase mediated signal transduction positive regulation of apoptotic process regulation of Rho protein signal transduction ion transmembrane transport

Gene ontology - Cellular component : cytosol

Gene ontology - Molecular function : guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity

Havana BLAST/BLAT : OTTHUMG00000021698

Identity : 41401

InterPro : Pleckstrin homology domain  (PLEKHA7) PH domain-like  (AGAP4) SH3 domain  (SBK1) Spectrin alpha chain, SH3 domain Dbl homology (DH) domain

Locus : Xq11.1

Long gene name : ARHGEF9 intronic transcript 1

Name : Blotting, Western

PubMed : Collybistin forms a complex with mTOR and eIF3 and by sequestering these proteins downregulates mTORC1 signaling and protein synthesis potentially contributing to intellectual disability and autism. Here we identified residues critical for interaction with gephyrin in the linker region between the SH3 and the DH domains of collybistin. translocates gephyrin to submembrane microaggregates; collybistin mutation (G55A)is found in exon 2 of the ARHGEF9 gene in a patient with clinical symptoms of both hyperekplexia and epilepsy Results show that hPEM-2 is a target protein of Smurf1. Study propose that the collybistin-gephyrin complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit. Data indicate that ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy. 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. The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors Impairment of the membrane lipid binding activity of Collybistin R290H and a consequent defect in inhibitory synapse maturation represent a likely molecular pathomechanism of epilepsy and mental retardation in humans. Autism spectrum disorder patient with the smallest inactivating deletion in the collybistin gene.

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Synonyms gene name : ARHGEF9 intronic transcript 1 (non-protein coding)

Tree numbers : E05.196.401.143 E05.301.300.096 E05.478.566.320.200 E05.601.262 E05.601.470.320.200

WikiPathWays : Ectoderm Differentiation