스플라이싱 인자 3B 서브유닛 1 은 SF3B1 [5] [6] 단백질 이다.
기능. 이 유전자는 스플라이싱 인자 3b 단백질 복합체의 서브유닛 1을 코드한다. 스플라이싱 인자 3a 및 12S RNA 단위와 함께 스플라이싱 인자 3b가 U2 소핵 리보핵단백질 복합체(U2 snRNP)를 형성한다. 스플라이싱 인자 3b/3a 복합체는 인트론 분기 부위의 pre-mRNA 상류에 배열 독립적인 방식으로 결합하고 U2 snRNP를 pre-mRNA에 고정할 수 있다. 스플라이싱 인자 3b도 마이너 U12형 스플라이싱 소좀의 구성요소이다. 서브유닛 1의 카르복시 말단 3분의 2는 막대 모양의 나선 구조를 형성하는 22개의 동일하지 않은 탠덤 HEAT 반복을 가지고 있다. 대체 스플라이싱으로 인해 여러 개의 트랜스크립트 배리언트가 서로 다른 [6]
상호 작용 SF3B1은 다음과 상호작용하는 것으로 나타났습니다 .
임상 관련성 이 유전자의 돌연변이는 진행성 만성 림프구 백혈병,[12] [13] 유방암 의 [14] SF3B1 돌연변이는 환시데로아세포(RARS; 골수이형성증후군) 또는 혈소판증(RARS-T; 골수이형성증후군/골수이형성신생물)을 가진 난치성 빈혈 환자의 60%~80%에서 발견된다. 또한 SF3B1 돌연변이가 안와 흑색종에 관여하는 것을 암시하는 새로운 증거들이 있다.
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PDB 갤러리
2f9d : SF3b155 영역에 결합하는 스플라이소좀 단백질 p14의 2.5앙스트롬 분해 구조
2f9j : SF3b155 영역에 결합된 스플라이소좀 단백질 p14의 Y22M 돌연변이의 3.0 앙스트롬 분해 구조
2fho : 인간 스플라이소좀 단백질 복합체 p14-SF3b155의 NMR 용액 구조
