ARHGEF9 Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8). A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: GAP; GAP, Rac/Rho
Chromosomal Location of Human Ortholog: X|X C3
Cellular Component:  cell cortex; cytoplasm; cytosol; plasma membrane
Molecular Function:  guanyl-nucleotide exchange factor activity; Rho guanyl-nucleotide exchange factor activity
Biological Process:  receptor clustering; regulation of Rho protein signal transduction; small GTPase mediated signal transduction
Reference #:  Q3UTH8 (UniProtKB)
Alt. Names/Synonyms: 9630036L12Rik; A230067K14; ARHG9; Arhgef9; Cdc42 guanine exchange factor 9; CDC42 guanine nucleotide exchange factor (GEF) 9; Collybistin; Kiaa0424; mKIAA0424; Rac/Cdc42 guanine nucleotide exchange factor 9; Rho guanine nucleotide exchange factor 9
Gene Symbols: Arhgef9
Molecular weight: 60,927 Da
Basal Isoelectric point: 5.42  Predict pI for various phosphorylation states
CST Pathways:  Actin Dynamics  |  Microtubule Dynamics
Select Structure to View Below

ARHGEF9

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene