건너뛰다.
SKIPSKIP는 골격근과 신장이 풍부한 이노시톨인산가수분해효소의 약자로, 인간 [5]유전자이다.
기능.
이 유전자는 폴리인산 이노시톨에 대한 5-인산가수분해효소 활성을 가진 단백질을 암호화한다.단백질은 액틴 스트레스 섬유가 부족한 부위에 세포에 국재한다.이 단백질은 액틴 세포 골격을 부정적으로 조절할 수 있다고 생각됩니다.이 유전자의 대체 스플라이싱은 다른 아이소폼을 [5]코드하는 두 개의 전사 변이체를 낳는다.생쥐에서 SKIP의 과잉발현은 [6]신장수집관의 삼투압 조절에 영향을 미친다.
레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000132376 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000006127 - 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.
- ^ a b "Entrez Gene: SKIP skeletal muscle and kidney enriched inositol phosphatase".
- ^ Pernot E, Terryn S, Cheong SC, Markadieu N, Janas S, Blockmans M, Jacoby M, Pouillon V, Gayral S, Rossier BC, Beauwens R, Erneux C, Devuyst O, Schurmans S (Dec 2011). "The inositol Inpp5k 5-phosphatase affects osmoregulation through the vasopressin-aquaporin 2 pathway in the collecting system" (PDF). Pflügers Archiv. 462 (6): 871–83. doi:10.1007/s00424-011-1028-0. PMID 21938401. S2CID 27923688.
추가 정보
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- Mitchell CA, Brown S, Campbell JK, Munday AD, Speed CJ (Nov 1996). "Regulation of second messengers by the inositol polyphosphate 5-phosphatases". Biochemical Society Transactions. 24 (4): 994–1000. doi:10.1042/bst0240994. PMID 8968499.
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- Chen J, Xu J, Zhao W, Hu G, Cheng H, Kang Y, Xie Y, Lu Y (Nov 2005). "Characterization of human LNX, a novel ligand of Numb protein X that is downregulated in human gliomas". The International Journal of Biochemistry & Cell Biology. 37 (11): 2273–83. doi:10.1016/j.biocel.2005.02.028. PMID 16002321.
- Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH (Apr 2003). "Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3". American Journal of Human Genetics. 72 (4): 918–30. doi:10.1086/374320. PMC 1180354. PMID 12621583.
- Ijuin T, Takenawa T (Feb 2003). "SKIP negatively regulates insulin-induced GLUT4 translocation and membrane ruffle formation". Molecular and Cellular Biology. 23 (4): 1209–20. doi:10.1128/MCB.23.4.1209-1220.2003. PMC 141139. PMID 12556481.
- Gurung R, Tan A, Ooms LM, McGrath MJ, Huysmans RD, Munday AD, Prescott M, Whisstock JC, Mitchell CA (Mar 2003). "Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation". The Journal of Biological Chemistry. 278 (13): 11376–85. doi:10.1074/jbc.M209991200. PMID 12536145.
- Ijuin T, Mochizuki Y, Fukami K, Funaki M, Asano T, Takenawa T (Apr 2000). "Identification and characterization of a novel inositol polyphosphate 5-phosphatase". The Journal of Biological Chemistry. 275 (15): 10870–5. doi:10.1074/jbc.275.15.10870. PMID 10753883.