Role of Kenae/CCDC125 in cell motility through the deregulation of RhoGTPase.
Isaac's syndrome is a movement disorder characterized by hyperexcitability of peripheral motor nerves. Patients with Isaac's syndrome often develop auto-antibodies to voltage-gated potassium channels (VGKCs) which block their function. However, anti-VGKC antibodies are not detected in all patients with Isaac's syndrome, suggesting the existence of another etiology. In this study, we performed immunoscreening using the serum from a patient with Isaac's syndrome and identified the novel gene named Kenae/CCDC125. Expression analysis of Kenae/CCDC125 revealed that its transcript was highly expressed in tissues associated with the immune system, such as the thymus, spleen and bone marrow. In cells stably expressing Kenae/CCDC125, delay in cell motility and deregulation of RhoGTPase (RhoA, Rac1 and cdc42) activity to extracellular stimuli were demonstrated. These results suggest that the novel gene, Kenae/CCDC125, acts as a regulator of cell motility through RhoA, Rac1 and cdc42.
Department of Genome Science, Institute of Medical Science, St. Marianna University School of Medicine, Kanagawa 216-8512, Japan.
Natsumi
N
Araya
Hitoshi
H
Arimura
Ko-ichi
K
Kawahara
Naoko
N
Yagishita
Junji
J
Ishida
Ryoji
R
Fujii
Satoko
S
Aratani
Hidetoshi
H
Fujita
Tomoo
T
Sato
Yoshihisa
Y
Yamano
Itsuro
I
Higuchi
Mitsuhiro
M
Osame
Kusuki
K
Nishioka
Akiyoshi
A
Fukamizu
Kimiyoshi
K
Arimura
Ikuro
I
Maruyama
Toshihiro
T
Nakajima
D000595:Amino Acid Sequence; D000818:Animals; D000941:Antigens / Q000097:blood; D001483:Base Sequence; D045744:Cell Line, Tumor; D002465:Cell Movement; D003001:Cloning, Molecular; D020690:GTPase-Activating Proteins / Q000378:metabolism*; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D020386:Isaacs Syndrome / Q000097:blood / Q000378:metabolism; D051379:Mice; D008969:Molecular Sequence Data; D011506:Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
D000941:Antigens; C545701:CCDC125 protein, human; C545702:CCDC125 protein, mouse; D020690:GTPase-Activating Proteins; D011506:Proteins; D012333:RNA, Messenger