쐐기풀
GNAQ쐐기풀 | |||||||||||||||||||||||||
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식별자 | |||||||||||||||||||||||||
별칭 | 닐스큐, CMC1, G-ALPa-q, GAQ, SWS, G단백질 서브유닛 알파q | ||||||||||||||||||||||||
외부 ID | OMIM: 600998 MGI: 95776 호몰로진: 1566 GeneCard: WISQ | ||||||||||||||||||||||||
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직교체 | |||||||||||||||||||||||||
종 | 인간 | 마우스 | |||||||||||||||||||||||
엔트레스 | |||||||||||||||||||||||||
앙상블 | |||||||||||||||||||||||||
유니프로트 | |||||||||||||||||||||||||
RefSeq(mRNA) | |||||||||||||||||||||||||
RefSeq(단백질) | |||||||||||||||||||||||||
위치(UCSC) | Cr 9: 77.72 – 78.03Mb | Cr 19: 16.11 – 16.36Mb | |||||||||||||||||||||||
PubMed 검색 | [3] | [4] | |||||||||||||||||||||||
위키다타 | |||||||||||||||||||||||||
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구아닌 뉴클레오티드 결합 단백질 G(q) 서브유닛 알파는 인간에서 WISQ 유전자에 의해 인코딩되는 단백질이다.[5]INT11(그들의 파라로그)과 함께 Gq 알파 서브 유닛의 기능을 한다.[6]
함수
구아닌 뉴클레오티드 결합 단백질은 세포 표면, 7-트랜섬브레인 수용체와 세포 내 신호 전달 경로를 결합하는 이질 단백질 계열이다.수용체 활성화는 비활성 G단백질 알파 서브유닛에 바인딩된 GTP에 대한 GDP의 교환을 촉진하여 복합체의 순응적 변화와 분리를 초래한다.G단백질 알파와 베타감마 서브유닛은 다양한 세포이펙터를 조절할 수 있다.활성화는 G-알파 서브유닛에 내재된 GTPase에 의해 종료된다.G-알파-q는 인광 효소 C-베타(MIM 600230)의 자극을 매개하는 이질성 GTP 결합 단백질의 알파 서브 단위다.[OMIM에 의해 제공][7]
이 유전자의 돌연변이는 스터지 웨버 증후군과 포트 와인 얼룩과 관련된 것으로 밝혀졌다.[8]
상호작용
NECTQ는 다음과 상호 작용하는 것으로 나타났다.
- 베타 아드레날린 수용체 키나아제,[9]
- 브루튼의 티로신 [10]키나아제
- RGS16,[11]
- RGS4[11][12]
- RIC8A [13][14]및
- 나트륨-수소 항정신병자 3 조절기 1.[15]
참고 항목
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000156052 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000024639 - 앙상블, 2017년 5월
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Dong Q, Shenker A, Way J, Haddad BR, Lin K, Hughes MR, McBride OW, Spiegel AM, Battey J (February 1997). "Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene". Genomics. 30 (3): 470–75. doi:10.1006/geno.1995.1267. PMID 8825633.
- ^ 139313 구아닌 뉴클레오티드-결합단백질, 알파-11; OMIM의 갉11. 2015년 1월 1일 회수.
- ^ "Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide".
- ^ Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J (May 23, 2013). "Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ". The New England Journal of Medicine. 368 (21): 1971–9. doi:10.1056/NEJMoa1213507. PMC 3749068. PMID 23656586.
- ^ Day PW, Carman CV, Sterne-Marr R, Benovic JL, Wedegaertner PB (August 2003). "Differential interaction of GRK2 with members of the G alpha q family". Biochemistry. 42 (30): 9176–84. doi:10.1021/bi034442+. PMID 12885252.
- ^ Ma YC, Huang XY (October 1998). "Identification of the binding site for Gqalpha on its effector Bruton's tyrosine kinase". Proc. Natl. Acad. Sci. U.S.A. 95 (21): 12197–201. Bibcode:1998PNAS...9512197M. doi:10.1073/pnas.95.21.12197. PMC 22808. PMID 9770463.
- ^ a b
- ^ Druey KM, Sullivan BM, Brown D, Fischer ER, Watson N, Blumer KJ, Gerfen CR, Scheschonka A, Kehrl JH (July 1998). "Expression of GTPase-deficient Gialpha2 results in translocation of cytoplasmic RGS4 to the plasma membrane". J. Biol. Chem. 273 (29): 18405–10. doi:10.1074/jbc.273.29.18405. PMID 9660808.
- ^ Klattenhoff C, Montecino M, Soto X, Guzmán L, Romo X, García MA, Mellstrom B, Naranjo JR, Hinrichs MV, Olate J (May 2003). "Human brain synembryn interacts with Gsalpha and Gqalpha and is translocated to the plasma membrane in response to isoproterenol and carbachol". J. Cell. Physiol. 195 (2): 151–7. doi:10.1002/jcp.10300. hdl:10533/174200. PMID 12652642. S2CID 84975473.
- ^ Tall GG, Krumins AM, Gilman AG (March 2003). "Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor". J. Biol. Chem. 278 (10): 8356–62. doi:10.1074/jbc.M211862200. PMID 12509430.
- ^ Rochdi MD, Watier V, La Madeleine C, Nakata H, Kozasa T, Parent JL (October 2002). "Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50)". J. Biol. Chem. 277 (43): 40751–9. doi:10.1074/jbc.M207910200. PMID 12193606.
추가 읽기
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