中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
3期
422-425
,共4页
钙/钙调蛋白依赖性丝氨酸蛋白激酶%神经发育%精子发育%肾脏发育
鈣/鈣調蛋白依賴性絲氨痠蛋白激酶%神經髮育%精子髮育%腎髒髮育
개/개조단백의뢰성사안산단백격매%신경발육%정자발육%신장발육
Calcium/calmodulin dependent serine protein kinase%Neural development%Spermatozoal development%Renal development
钙/钙调蛋白依赖性丝氨酸蛋白激酶(calcium/calmodulin dependent serine protein kinase,CASK)属于膜相关鸟苷酸激酶家族,有多种转录本.其表达具有明显的时空特异性,在胚胎期及成年组织中的分布明显不同,可通过翻译后修饰维持其活性.可被CDK 5和PKA磷酸化;可通过与SUMO1结合而受到SUMO化修饰调节.CASK在神经、精子、肾脏发育过程中均发挥着重要作用,与组织器官功能的实现密不可分,其功能异常可能导致相关疾病的发生.CASK可影响神经突触的形成与功能,基因突变可造成多种神经发育异常;参与精子发育成熟、精子的顶体反应,协助受精发生;CASK单独对肾脏发育无明显影响,它可以通过与DLG1相互作用而影响肾脏发育.
鈣/鈣調蛋白依賴性絲氨痠蛋白激酶(calcium/calmodulin dependent serine protein kinase,CASK)屬于膜相關鳥苷痠激酶傢族,有多種轉錄本.其錶達具有明顯的時空特異性,在胚胎期及成年組織中的分佈明顯不同,可通過翻譯後脩飾維持其活性.可被CDK 5和PKA燐痠化;可通過與SUMO1結閤而受到SUMO化脩飾調節.CASK在神經、精子、腎髒髮育過程中均髮揮著重要作用,與組織器官功能的實現密不可分,其功能異常可能導緻相關疾病的髮生.CASK可影響神經突觸的形成與功能,基因突變可造成多種神經髮育異常;參與精子髮育成熟、精子的頂體反應,協助受精髮生;CASK單獨對腎髒髮育無明顯影響,它可以通過與DLG1相互作用而影響腎髒髮育.
개/개조단백의뢰성사안산단백격매(calcium/calmodulin dependent serine protein kinase,CASK)속우막상관조감산격매가족,유다충전록본.기표체구유명현적시공특이성,재배태기급성년조직중적분포명현불동,가통과번역후수식유지기활성.가피CDK 5화PKA린산화;가통과여SUMO1결합이수도SUMO화수식조절.CASK재신경、정자、신장발육과정중균발휘착중요작용,여조직기관공능적실현밀불가분,기공능이상가능도치상관질병적발생.CASK가영향신경돌촉적형성여공능,기인돌변가조성다충신경발육이상;삼여정자발육성숙、정자적정체반응,협조수정발생;CASK단독대신장발육무명현영향,타가이통과여DLG1상호작용이영향신장발육.
Calcium/calmodulin dependent serine protein kinase (CASK),which belongs to the family of membrane associated guanylate kinase (MAGUK) proteins,has several isoforms.CASK expresses differently in embryonic tissues and adult tissues.It can be modulated by phosphorylation and SUMOylation.CASK plays an important role in neural development,spermatozoal development and renal development.Dysfunction of CASK may lead to diseases.CASK is distributed extensively in the brain,regulating synapse formation.Mutation of CASK can lead to several neurologic diseases.CASK is also involved in the development and maturation of sperm and fertilization.It also can influence renal development through interaction with DLG1.