Search
rho guanine nucleotide exchange factor 9; Rac/Cdc42 guanine nucleotide exchange factor 9; collybistin; PEM-2 homolog (ARHGEF9, KIAA0424)
Function:
1) guanine nucleotide exchange factor (GEF) for CDC42
2) promotes formation of GPHN cluster
Compartment: cytoplasm
Expression: expressed in brain & in low levels in heart
Pathology:
- defects in ARHGEF9 are associated with:
- startle disease with epilepsy
General
rho guanine nucleotide exchange factor
Properties
SIZE: MW = 61 kD
entity length = 516 aa
COMPARTMENT: cell nucleus
MOTIF: src homology 3 [SH3] domain
SITE: 8-67
interaction with GPHN {100-110}
Dbl homology domain {103-287}
PH domain {318-425}
Database Correlations
OMIM 300429
UniProt O43307
References
UniProt :accession O43307