RAS p21 단백질 활성제 1
RAS p21 protein activator 1라사1 | |||||||||||||||||||||||||
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식별자 | |||||||||||||||||||||||||
별칭 | RASA1, CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP, RAS p21 단백질 활성제 1,120, CMAVM1 | ||||||||||||||||||||||||
외부 ID | OMIM: 139150 MGI: 97860 HomoloGene: 2168 GeneCard: RASA1 | ||||||||||||||||||||||||
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직교체 | |||||||||||||||||||||||||
종 | 인간 | 마우스 | |||||||||||||||||||||||
엔트레스 | |||||||||||||||||||||||||
앙상블 | |||||||||||||||||||||||||
유니프로트 | |||||||||||||||||||||||||
RefSeq(mRNA) | |||||||||||||||||||||||||
RefSeq(단백질) | |||||||||||||||||||||||||
위치(UCSC) | Cr 5: 87.27 – 87.39Mb | Chr 13: 85.36 – 85.44Mb | |||||||||||||||||||||||
PubMed 검색 | [3] | [4] | |||||||||||||||||||||||
위키다타 | |||||||||||||||||||||||||
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RAS p21 단백질 활성제 1 또는 RasGAP(Ras GTPase 활성화 단백질)은 RASA1이라고도 알려진 120kDa 세포질 인간 단백질로, 다음과 같은 두 가지 주요 활동을 제공한다.
- C-단자 GAP 도메인을 통해 Ras의 내인성 GTPase 활동을 개선하여 Ras의 활성 GTP-bound 형식에서 비활성 GDP-bound 형식으로의 비활성화
- N-터미널 SH2-SH3-SH2 도메인을 통해 다운스트림 상호 작용하는 파트너를 향한 미토제닉 신호 전송
이 유전자에 의해 인코딩된 단백질은 세포질에 위치하며 GTPase 활성화 단백질의 GAP1 계열의 일부다.유전자 생산물은 일반 RAS p21의 GTPase 활성을 자극하지만, 그것의 종양 유발 상대는 자극하지 않는다.RAS 기능의 억제제 역할을 하는 이 단백질은 RAS 단백질의 약한 내인성 GTPase 활성을 강화하여 RAS의 GDP-경계형태를 비활성으로 만들어 세포 증식과 분화를 제어할 수 있게 한다.어느 한 단백질의 결합 부위의 변화를 이끄는 돌연변이는 기저 세포암과 관련이 있다.대체 스플라이싱은 N단자 소수성 부위는 부족하지만 동일한 활동을 유지하는 짧은 등소형태가 성인조직은 아닌 태반으로 풍부하게 표현되는 두 개의 등소형을 만든다.[5]
도메인
RasGAP에는 SH3 도메인 1개와 SH2 도메인 2개, PH 도메인 1개, C2 도메인, GAP 도메인이 있다.
상호작용
RAS p21 단백질 활성제 1은 다음과 상호작용하는 것으로 나타났다.
mRNA는 Mir-132 microRNA와 상호작용할 수 있다; 이 과정은 혈관신생과 연결되어 있다.[32]
질병 데이터베이스
참조
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- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000021549 - 앙상블, 2017년 5월
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추가 읽기
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