CBL(유전자)

CBL (gene)
"CBL2"는 여기서 리다이렉트 됩니다.캐나다 공항의 경우 Severn Bridge/Buck Lake Water 비행장을 참조하십시오.
CBL
Protein CBL PDB 1b47.png
사용 가능한 구조
PDBOrtholog 검색: PDBe RCSB
식별자
에일리어스CBL, C-CBL2, FRA11B, NSLL, RNF55, Cbl proto-oncogene
외부 IDOMIM : 165360 MGI : 88279 HomoloGene : 3802 GenCard : CBL
맞춤법
종.인간마우스
엔트레즈

867

12402

앙상블

ENSG00000110395

ENSMUSG000034342

유니프로트

P22681

P22682

RefSeq(mRNA)

NM_005188

NM_007619

RefSeq(단백질)

NP_005179

NP_031645

장소(UCSC)Chr 11: 119.21 ~119.31 MbChr 9: 44.05 ~44.15 Mb
PubMed 검색[3][4]
위키데이터
인간 보기/편집마우스 표시/편집

Cbl(Casitas B-lineage Limpoma의 이름)은 세포 신호 전달 및 단백질 유비쿼티화에 관여하는 E3 유비퀴틴 단백질 연결효소인 단백질 CBL을 코드하는 포유류의 유전자이다.이 유전자에 대한 돌연변이는 많은 인간 암, 특히 급성 골수성 [5]백혈병에 관련되었다.

검출

1989년 염색체 생쥐 Cbl 유전자의 바이러스 코드 부분은 Cbl 계열의 첫 번째 멤버로[6] 일반 생쥐 C-Cbl과 구별하기 위해 v-Cbl로 명명되었다.실험에 사용된 바이러스는 Cas-Br-M으로 [7]알려진 캘리포니아의 Lake Casitas에서 포획된 쥐의 뇌에서 분리된 쥐-트로픽 변종 백혈병 바이러스로, 쥐가 주입된 쥐에서 원래 c-Cbl 유전자의 약 3분의 1을 제거한 것으로 밝혀졌다.염기서열 분석 결과 레트로바이러스에 의해 운반된 부분은 티로신 키나제 결합 도메인을 코드했으며, 이는 전장 c-Cbl을 운반하는 레트로바이러스가 종양 형성을 유도하지 않았기 때문에 종양 발생 형태임이 밝혀졌다.결과적으로 변형된 레트로바이러스는 감염된 생쥐에서 카시타스 B-라인지 림프종으로 알려진 B-전 림프종을 지속적으로 유도하는 것으로 밝혀졌다.

구조.

전체 길이 c-Cbl은 기능적으로 다른 단백질 도메인을 인코딩하는 여러 영역으로 구성되어 있는 것으로 밝혀졌다.

  • N 말단 티로신 키나아제 결합 도메인(TKB 도메인): 결합할 수 있는 단백질을 결정한다.
  • RING 핑거 도메인 모티브 : 유비쿼티네이션에 관여하는 효소를 모집합니다.
  • 프롤린이 풍부한 영역: Cbl과 Cbl 어댑터 기능에 관여하는 세포성 단백질 사이의 상호작용 부위
  • C 말단 유비퀴틴 관련 도메인(UBA 도메인): 유비퀴틴 결합 부위

단백질 생성물의 이러한 도메인 구조와 티로신 및 세린이 풍부한 함량은 세포 신호 [8]전달 경로에 사용되는 "어댑터 분자"의 전형이다.

호몰로지

세 개의 포유동물 상동체가 특징지어졌으며, C-말단 UBA 도메인의 길이가 다르기 때문에 어댑터 단백질로 기능하는 능력이 모두 다르다.

  1. c-Cbl: 보편적으로 발현되는 906 및 913의 아미노산 길이가 사람과 생쥐에서 각각 나타난다.
  2. Cbl-b: 널리 발현되는 982개의 아미노산 길이.
  3. Cbl-c: UBA 도메인이 부족하기 때문에 길이가 474개에 불과하다.그것은 주로 상피세포에서 발현되지만 그 기능은 잘 알려져 있지 않다.

C-Cbl과 Cbl-b는 모두 D. melanogaster(D-Cbl)와 C. elegans(Sli-1)에 직교체를 가지고 있어 이들 [8]단백질의 긴 진화 경로를 암시한다.

기능.

유비퀴틴리가아제

유비퀴티네이션은 단백질에 유비퀴틴 모노머를 화학적으로 부착하여 분해하는 과정이다.이것은 다단계 과정이기 때문에, 몇 가지 다른 효소가 관여하며, 마지막 효소는 E3 계열의 연결효소이다.Cbl은 E3 연결효소로 기능하므로 유비퀴틴과 Cbl의 단백질 기질(일반적으로 수용체 티로신 키나아제) 사이의 공유 결합 형성을 촉매할 수 있다.RING 핑거 도메인은 이러한 전달을 매개하지만, RING 유형의 다른 E3 연결효소처럼 유비퀴틴과 RING 핑거 도메인 사이에 중간 공유 결합이 형성되지 않는다.유비퀴틴이 기질 수용체 티로신 키나제에 단계적으로 부착되면 혈장막에서 유비퀴틴이 제거되고 분해하기 위해 리소좀으로 전달될 수 있다.

상호 작용

Cbl 유전자는 다음과 상호작용하는 것으로 나타났다.

레퍼런스

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