FYVE, RhoGEF And PH Domain Containing protein 1 (FGD1)

FGD1 contains Dbl (DH) and pleckstrin (PH) homology domains. It can bind specifically to the Rho family GTPase Cdc42Hs and stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. FGD1 has an essential role in embryonic development, and FGD1 gene mutations result in the human developmental disorder, Aarskog-Scott syndrome.The mouse cDNA clones contained a 2,880-bp open reading frame predicted to encode a protein of 960 amino acids, 1 amino acid shorter than the human FGD1 open reading frame. Comparison of the mouse and human sequences within the coding region indicated 94.7% identity (96.3% similarity) at the amino acid level.