Родопсинкиназа

Родопсинкиназа
Кристаллическая структура комплекса GRK1 с АТФ.
Кристаллическая структура комплекса GRK1 с АТФ.
Обозначения
Символы GRK1; GPRK1, RK, RHOK
Entrez Gene 6011
HGNC 10013
OMIM 180381
RefSeq NM_002929
UniProt Q15835
Другие данные
Шифр КФ 2.7.11.14
Локус 13-я хр. , 13q34
Логотип Викиданных Информация в Викиданных ?

Родопсинкиназа, или GRK1, — фермент протеинкиназа из группы киназ рецепторов, связанных с G-белками (GRK-киназ), участвующий в процессе фототрансдукции. Продукт гена человека GRK1.

Функции

GRK1 фосфорилирует родопсин и таким образом участвует в восстановлении и адаптации клеток сетчатки глаза, в частности в обеспечении ночного видения и в быстрой адаптации глаза к быстрой смене интенсивности света.

Родопсинкиназа аутофосфорилируется, что регулируется действием света и активируется cAMP. Полная активация киназы требует фарнезилирования молекулы. Основные участки фосфорилирования: серин-491 и треонин-492; минорный участок — серин-21.

Тканевая специфичность

Родопсинкиназа экспрессируется в сетчатке глаза в палочках и колбочках.

Клиническое значение

Мутации гена GRK1 связаны с амаврозом Лебера 2-го типа, характеризующимся непрогрессирующим нарушением ночного видения, нистагмом и миопией.

См. также

Примечания

Литература

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