내더린B수용체
Endothelin B receptor
ET라고도B 알려진 엔도텔린 수용체 타입 B는 인간에게 EDNRB 유전자에 의해 암호화된 단백질이다.[5]
함수
엔도텔린 수용체 타입 B는 G단백질 결합 수용체로 인산염리노시톨칼슘 제2메신저 시스템을 활성화한다.리간드, 엔도텔린은 세 가지 강력한 바소액티브 펩타이드, 즉 ET1, ET로3 구성되어2 있다.SVR이라는 스플라이스 변종이 설명되었다. ETB-SVR 수용체의 순서는 세포내 C-단자 영역을 제외하고 ETRB와 동일하다.두 개의 스플라이스 변형 모두 ET를1 결합하지만, 결합 시 서로 다른 반응을 보이며, 이는 그것들이 기능적으로 구별될 수 있음을 시사한다.[6]
규정
멜라노사이트 세포에서 EDNRB 유전자는 마이크로파탈리아 관련 전사 인자에 의해 조절된다.두 유전자의 돌연변이는 와르덴부르크 증후군과 연결된다.[7][8]
임상적 유의성
다유전자 질환인 허쉬스프룽병 타입 2는 내피수용체 타입 B 유전자의 돌연변이 때문이다.[9]
동물
말에서 EDNRB 유전자 가운데 돌연변이인 Ile118Lys는 동질일 때 치명적 화이트 증후군을 일으킨다.[10]이 돌연변이에서는 DNA 복제의 불일치로 인해 이솔레우신 대신 리신이 만들어진다.[10]그 결과 EDNRB 단백질은 배아의 발달에 있어서 그 역할을 다하지 못하여 멜라노사이트와 장내 뉴런 전구체의 이동을 제한한다.EDNRB 돌연변이의 단일 사본, 즉 이질성 상태는 프레임 오버로라고 불리는 식별 가능하고 완전히 양성인 얼룩무늬 코트를 생성한다.[11]
상호작용
내더린 수용체 타입 B는 Cobolin 1과 상호작용하는 것으로 나타났다.[12]
리간즈
- 고민자
- 반목자
- A-192,621
- BQ-788
- 보센탄(선택되지 않은 ETA / ETB 길항제)
참고 항목
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000136160 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG00000022122 - 앙상블, 2017년 5월
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- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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- ^ a b Yang GC, Croaker D, Zhang AL, Manglick P, Cartmill T, Cass D (Jun 1998). "A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease". Human Molecular Genetics. 7 (6): 1047–52. doi:10.1093/hmg/7.6.1047. PMID 9580670.
AG mutation, which changed isoleucine to lysine in the predicted first transmembrane domain of the EDNRB protein. This was associated with LWFS when homozygous and with the overo phenotype when heterozygous. -->
- ^ Metallinos DL, Bowling AT, Rine J (1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease". Mamm. Genome. 9 (6): 426–31. doi:10.1007/s003359900790. PMID 9585428. S2CID 19536624.
- ^ Yamaguchi T, Murata Y, Fujiyoshi Y, Doi T (Apr 2003). "Regulated interaction of endothelin B receptor with caveolin-1". European Journal of Biochemistry. 270 (8): 1816–27. doi:10.1046/j.1432-1033.2003.03544.x. PMID 12694195.
- ^ Maguire JJ, Davenport AP (Dec 2014). "Endothelin@25 - new agonists, antagonists, inhibitors and emerging research frontiers: IUPHAR Review 12". British Journal of Pharmacology. 171 (24): 5555–72. doi:10.1111/bph.12874. PMC 4290702. PMID 25131455.
추가 읽기
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외부 링크
- "Endothelin Receptors: ETB". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.
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