PAFAH1B1
PAFAH1B1
혈소판활성화인자 아세틸히드로라아제 IB 서브유닛 알파는 PAFAH1B1 [5][6][7]유전자에 의해 인체 내에서 코드되는 효소이다.그 단백질은 종종 Lis1이라고 불리며 운동 단백질 다이나인을 [8]조절하는 데 중요한 역할을 한다.
기능.
PAFAH1B1은 돌연변이 또는 소실 시 밀러-다이커 증후군과 관련된 발진증을 일으키는 유전자를 코드하는 것으로 확인되었다.PAFAH1B1은 혈소판활성화인자의 SN-2 위치에서 아세틸기 제거를 특이적으로 촉매하는 헤테로트리머 효소인 혈소판활성화인자 아세틸히드로라아제 세포내 Ib 동소체의 비촉매 알파 서브유닛을 코드한다(1-O-알킬-2-아세틸기-3-스네르기).세포내 혈소판활성화인자 아세틸하이드롤라아제의 다른 두 가지 동소형태가 존재한다. 하나는 여러 개의 서브유닛으로 구성되어 있고 다른 하나는 단일 서브유닛으로 구성되어 있다.또한 [7]혈청에서 이 효소의 단일 서브유닛 아이소폼을 찾을 수 있다.
한 연구에 따르면 PAFAH1B1은 릴린에 [9]의해 활성화된 VLDLR 수용체와 상호작용한다.
유전체학
이 유전자는 왓슨(플러스) 가닥의 17p13.3 염색체에 위치한다.이 유전자는 91,953개의 염기로 410개의 아미노산(예측 분자량 46.638킬로달톤)의 단백질을 암호화한다.
상호 작용
PAFAH1B1은 DYNC1H1,[10] CLIP1,[11] NDE1,[12][13] [14]PAFAH1B3,[15] PAFAH1B2,[15] NUDC,[16] TUBA1A[17] 및 Doublecortin과 [18]상호 작용하는 것으로 나타났습니다.
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레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000007168 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000020745 - 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.
- ^ Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH (Aug 1993). "Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats". Nature. 364 (6439): 717–21. doi:10.1038/364717a0. PMID 8355785. S2CID 4247668.
- ^ Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH (Feb 1997). "Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome". Human Molecular Genetics. 6 (2): 157–64. doi:10.1093/hmg/6.2.157. PMID 9063735.
- ^ a b "Entrez Gene: PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa".
- ^ Kardon JR, Vale RD (Dec 2009). "Regulators of the cytoplasmic dynein motor". Nature Reviews Molecular Cell Biology. 10 (12): 854–65. doi:10.1038/nrm2804. PMC 3394690. PMID 19935668.
- ^ Zhang G, Assadi AH, McNeil RS, Beffert U, Wynshaw-Boris A, Herz J, Clark GD, D'Arcangelo G (2007). Mueller U (ed.). "The Pafah1b complex interacts with the reelin receptor VLDLR". PLOS ONE. 2 (2): e252. doi:10.1371/journal.pone.0000252. PMC 1800349. PMID 17330141.
- ^ Tai CY, Dujardin DL, Faulkner NE, Vallee RB (Mar 2002). "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function". The Journal of Cell Biology. 156 (6): 959–68. doi:10.1083/jcb.200109046. PMC 2173479. PMID 11889140.
- ^ Coquelle FM, Caspi M, Cordelières FP, Dompierre JP, Dujardin DL, Koifman C, Martin P, Hoogenraad CC, Akhmanova A, Galjart N, De Mey JR, Reiner O (May 2002). "LIS1, CLIP-170's key to the dynein/dynactin pathway". Molecular and Cellular Biology. 22 (9): 3089–102. doi:10.1128/MCB.22.9.3089-3102.2002. PMC 133759. PMID 11940666.
- ^ Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A (Jul 2003). "14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome". Nature Genetics. 34 (3): 274–85. doi:10.1038/ng1169. PMID 12796778. S2CID 10301633.
- ^ Niethammer M, Smith DS, Ayala R, Peng J, Ko J, Lee MS, Morabito M, Tsai LH (Dec 2000). "NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein". Neuron. 28 (3): 697–711. doi:10.1016/S0896-6273(00)00147-1. PMID 11163260. S2CID 11154069.
- ^ Efimov VP, Morris NR (Aug 2000). "The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11 protein". The Journal of Cell Biology. 150 (3): 681–8. doi:10.1083/jcb.150.3.681. PMC 2175200. PMID 10931877.
- ^ a b Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G (Apr 2000). "Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development". Mechanisms of Development. 92 (2): 263–71. doi:10.1016/S0925-4773(00)00242-2. PMID 10727864. S2CID 2447495.
- ^ Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY (May 1998). "The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC". Current Biology. 8 (10): 603–6. doi:10.1016/S0960-9822(98)70232-5. PMID 9601647.
- ^ Sapir T, Elbaum M, Reiner O (Dec 1997). "Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit". The EMBO Journal. 16 (23): 6977–84. doi:10.1093/emboj/16.23.6977. PMC 1170301. PMID 9384577.
- ^ Caspi M, Atlas R, Kantor A, Sapir T, Reiner O (Sep 2000). "Interaction between LIS1 and doublecortin, two lissencephaly gene products". Human Molecular Genetics. 9 (15): 2205–13. doi:10.1093/oxfordjournals.hmg.a018911. PMID 11001923.
추가 정보
- Tjoelker LW, Eberhardt C, Wilder C, Dietsch G, Trong HL, Cousens LS, Zimmerman GA, McIntyre TM, Stafforini DM, Prescott SM, Gray PW (1997). "Functional and structural features of plasma platelet-activating factor acetylhydrolase". Platelet-Activating Factor and Related Lipid Mediators 2. Advances in Experimental Medicine and Biology. Vol. 416. pp. 107–11. doi:10.1007/978-1-4899-0179-8_19. ISBN 978-1-4899-0181-1. PMID 9131135.
- Stafforini DM, McIntyre TM, Zimmerman GA, Prescott SM (Jul 1997). "Platelet-activating factor acetylhydrolases". The Journal of Biological Chemistry. 272 (29): 17895–8. doi:10.1074/jbc.272.29.17895. PMID 9218411.
- Yamada Y, Yokota M (May 1998). "Roles of plasma platelet-activating factor acetylhydrolase in allergic, inflammatory, and atherosclerotic diseases". Japanese Circulation Journal. 62 (5): 328–35. doi:10.1253/jcj.62.328. PMID 9626899.
- Reiner O, Cahana A, Escamez T, Martinez S (2002). "LIS1-no more no less". Molecular Psychiatry. 7 (1): 12–6. doi:10.1038/sj/mp/4000975. PMID 11803439.
- Guerrini R, Carrozzo R (Apr 2002). "Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing". Seizure. 11 Suppl A (7): 532–43, quiz 544–7. doi:10.1053/seiz.2001.0650. PMID 12185771. S2CID 18943418.
- Wynshaw-Boris A (Oct 2007). "Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development". Clinical Genetics. 72 (4): 296–304. doi:10.1111/j.1399-0004.2007.00888.x. PMID 17850624. S2CID 25446883.
- Mizuguchi M, Takashima S, Kakita A, Yamada M, Ikeda K (Oct 1995). "Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome". The American Journal of Pathology. 147 (4): 1142–51. PMC 1870994. PMID 7573359.
- Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K (Jul 1994). "Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]". Nature. 370 (6486): 216–8. doi:10.1038/370216a0. PMID 8028668. S2CID 4261133.
- Reiner O, Bar-Am I, Sapir T, Shmueli O, Carrozzo R, Lindsay EA, Baldini A, Ledbetter DH, Cahana A (Nov 1995). "LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2". Genomics. 30 (2): 251–6. doi:10.1006/geno.1995.9880. PMID 8586424.
- Isumi H, Takashima S, Kakita A, Yamada M, Ikeda K, Mizuguchi M (Jan 1997). "Expression of the LIS-1 gene product in brain anomalies with a migration disorder". Pediatric Neurology. 16 (1): 42–4. doi:10.1016/S0887-8994(96)00260-3. PMID 9044400.
- Sapir T, Elbaum M, Reiner O (Dec 1997). "Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit". The EMBO Journal. 16 (23): 6977–84. doi:10.1093/emboj/16.23.6977. PMC 1170301. PMID 9384577.
- Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY (May 1998). "The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC". Current Biology. 8 (10): 603–6. doi:10.1016/S0960-9822(98)70232-5. PMID 9601647.
- Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH (Sep 1999). "Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1". Human Molecular Genetics. 8 (9): 1757–60. doi:10.1093/hmg/8.9.1757. PMID 10441340.
- Sapir T, Cahana A, Seger R, Nekhai S, Reiner O (Oct 1999). "LIS1 is a microtubule-associated phosphoprotein". European Journal of Biochemistry. 265 (1): 181–8. doi:10.1046/j.1432-1327.1999.00711.x. PMID 10491172.
- Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G (Apr 2000). "Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development". Mechanisms of Development. 92 (2): 263–71. doi:10.1016/S0925-4773(00)00242-2. PMID 10727864. S2CID 2447495.
외부 링크
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