호모 사피엔스 종의 단백질 코드 유전자
알파-액티닌-4 는 ACTN4 [5] 유전자에 의해 인간에서 암호화되는 단백질 이다.
알파 액티닌은 알파 및 베타 스펙트린 및 디스트로핀을 포함한 다양한 세포골격 단백질 그룹을 나타내는 스펙트린 유전자 슈퍼패밀리에 속합니다. 알파 액티닌은 서로 다른 세포 유형에서 여러 역할을 하는 액틴 결합 단백질이다. 비근육세포에서 세포골격 아이소폼은 마이크로필라멘트 다발 및 아데렌스형 접합부를 따라 발견되며, 여기서 액틴과 막의 결합에 관여한다. 이와는 대조적으로 골격, 심장 및 평활근 아이소폼은 Z-디스크와 유사한 밀도 있는 신체에 국소화되어 근섬유 액틴 필라멘트를 고정하는 데 도움을 준다. 이 유전자는 세포질에 농축되어 전이 과정에 관여하는 것으로 생각되는 비근육 알파 액티닌 이소폼을 암호화한다. 이 유전자의 돌연변이는 국소적 및 부분적 [5] 사구체 경화증과 연관되어 왔다.
상호 작용 알파-액티닌-4는 PDLIM1 ,[6] [7] 나트륨-수소 교환 조절 보조 인자 [8] 2, 콜라겐, XVII, 알파 1, [9] CAMK2A ,[10] CAMK2B ,[10] MAGI1 [11] 및 TRIM3 과 [12] 상호작용하는 것으로 나타났다 .
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레퍼런스 ^ a b c ENSG000002844 GRCh38: 앙상블 릴리즈 89: ENSG00000130402, ENSG000002844 : Ensembl , 2017년 5월 ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000054808 - 앙상블 , 2017년 5월 ^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine . ^ "Mouse PubMed Reference:" . 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PDB 갤러리
1wlx : α-actinin-4의 세 번째 스펙트린 반복의 용액 구조
2eyi : 1.7 앵스트롬 분해능에서 인간 알파-액티닌 1의 액틴 결합 도메인의 결정 구조
2eyn : 1.8 앵스트롬 분해능에서 인간 알파-액티닌 1의 액틴 결합 도메인의 결정 구조
외부 링크