SOS1

SOS1
SOS1
Protein SOS1 PDB 1awe.png
사용 가능한 구조물
PDB직교 검색: PDBe RCSB
식별자
별칭SOS1, GF1, GGF1, GINGF, HGF, NS4, SOS Ras/Rac 구아닌 뉴클레오티드 교환 인자 1, SOS-1
외부 IDOMIM: 182530 MGI: 98354 HomoloGene: 4117 GeneCard: SOS1
직교체
종인간마우스
엔트레스

6654

20662

앙상블

ENSG00000115904

ENSMUSG000000241

유니프로트

Q07889

Q62245

RefSeq(mRNA)

NM_005633
NM_001382394
NM_001382395

NM_009231

RefSeq(단백질)

NP_005624
NP_001369323
NP_001369324

NP_033257

위치(UCSC)Cr 2: 38.96 – 39.12MbChr 17: 80.7 – 80.79Mb
PubMed 검색[3][4]
위키다타
인간 보기/편집마우스 보기/편집

7리스 호몰로고 1의 아들은 인간에게 SOS1 유전자에 의해 암호화된 단백질이다.[5][6]

함수

SOS1은 구아닌 뉴클레오티드 교환 인자(GEF)로, RAS 단백질과 상호작용하여 GTP로 인산염 GDP, 또는 비활성 상태에서 활성 상태로 전환하여 세포 증식을 신호한다.RAS 유전자(예: MIM 190020)는 세포 성장과 분화를 제어하는 신호의 전도에 작용하는 막 결합 구아닌 뉴클레오티드 결합 단백질을 인코딩한다.GTP의 결합은 RAS 단백질을 활성화하고, 이후 결합 GTP를 GDP에 대한 가수분해와 인산염은 이러한 단백질에 의한 신호를 비활성화한다.GTP 바인딩은 RAS에 대한 구아닌 뉴클레오티드 교환 인자에 의해 촉매될 수 있으며, GTP 가수분해효소 활성 단백질(GAPs)에 의해 가속될 수 있다.RAS에 대해 확인된 첫 번째 교환 인자는 S. 세레비시아 Cdc25 유전자 제품이었다.유전자 분석 결과 CDC25는 RAS 단백질의 활성화를 위해 반드시 필요한 것으로 나타났다.드로소필라에서 '7less' 유전자(Sos)에 의해 인코딩된 단백질은 Cdc25의 촉매영역과의 시퀀스 유사성을 보여주는 도메인을 포함하고 있다.Sos는 구아닌 뉴클레오티드 교환을 촉진함으로써 RAS의 양성 조절기 역할을 할 수 있다.[7]

임상적 유의성

최근의 연구들은 또한 Sos1의 돌연변이가 누난 증후군과[8] 유전적인 Gingival Fibromatosis type 1을 유발할 수 있다는 것을 보여준다.[9]누난 증후군은 또한 KRAS와 PTPN11 유전자의 돌연변이에 의해 발생하는 것으로 나타났다.[10]MAP 키나제 경로의 활성화자.

상호작용

SOS1이 다음과 상호작용하는 것으로 나타났다.

참고 항목

참조

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