Domain

Rho guanine nucleotide exchange factor 9, SH3 domain (IPR035728)

Short name: ARHGEF9_SH3

Overlapping homologous superfamilies

Domain relationships

  • SH3 domain (IPR001452)
    • Rho guanine nucleotide exchange factor 9, SH3 domain (IPR035728)

Description

ARHGEF9 (Rho guanine nucleotide exchange factor 9, also called PEM2 or collybistin) selectively activates Cdc42 by exchanging bound GDP for free GTP [PMID: 21807943]. It is highly expressed in the brain and it interacts with gephyrin, a postsynaptic protein associated with GABA and glycine receptors. Mutations in the ARHGEF9 gene cause X-linked mental retardation with associated features like seizures, hyper-anxiety, aggressive behavior, and sensory hyperarousal [PMID: 21626670, PMID: 21731583, PMID: 18615734]. ARHGEF9 contains a SH3 domain followed by RhoGEF (also called Dbl-homologous or DH) and Pleckstrin Homology (PH) domains [PMID: 20345913].

This entry represents the SH3 domain of ARHGEF9.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
CDD