알라딘 (단백질)
Aladin (protein)| AAAS | |||||||||||||||||||||||||
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| 별칭 | AAAS, AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003, 알라딘 WD 반복 핵포폴린 | ||||||||||||||||||||||||
| 외부 ID | OMIM: 605378 MGI: 2443767 호몰로진: 9232 진카드: AAAS | ||||||||||||||||||||||||
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| 종 | 인간 | 마우스 | |||||||||||||||||||||||
| 엔트레스 | |||||||||||||||||||||||||
| 앙상블 | |||||||||||||||||||||||||
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| RefSeq(mRNA) | |||||||||||||||||||||||||
| RefSeq(단백질) | |||||||||||||||||||||||||
| 위치(UCSC) | Chr 12: 53.31 – 53.32Mb | Cr 15: 102.25 – 102.26Mb | |||||||||||||||||||||||
| PubMed 검색 | [3] | [4] | |||||||||||||||||||||||
| 위키다타 | |||||||||||||||||||||||||
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아드라칼린으로도 알려진 알라딘TM은 인간에게 AAAS 유전자에 의해 암호화된 핵 봉투 단백질이다.[5]유전자가 변이될 때 발생하는 무아카시아-애디슨주의-알라크리마 증후군(트리플 A 증후군)의 이름을 따서 지은 것이다.
함수
알라딘은 핵공기 복합체의 성분으로 핵포폴린 NDC1에 의해 부착된다.[6][7]돌연변이 알라딘은 핵 단백질 수입의 선택적 실패와 산화 스트레스에 대한 과민성을 유발한다.[8]돌연변이 알라딘은 또한 단일 가닥 파괴를 위한 수리 단백질인 Aprataxin과 DNA 베이스 절개 수리에 사용되는 DNA 리가아제 I의 핵 수입 감소를 유발한다.[8]이러한 DNA 수리 단백질의 감소는 세포의 죽음을 촉발하는 산화 DNA 손상의 축적을 허용함으로써 세포의 산화적 스트레스에 대한 민감도를 증가시킬 수 있다.
임상적 유의성
AAAS 유전자의 돌연변이는 트리플 A 증후군 (Allgrove Syndrome이라고도 한다)[9]의 원인이 된다.Triple-A 신드롬은 자가 열성 신경내분비증후군이다.
알라딘은 또한 스핀들 조립과 스핀들 위치설정을 포함한 특정 난모세포 감수분열 단계에도 사용된다.[10]알라딘의 암컷 생쥐는 균일하게 무균상태다.
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG000094914 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000036678 - 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.
- ^ Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S (November 2000). "Mutant WD-repeat protein in triple-A syndrome". Nature Genetics. 26 (3): 332–5. doi:10.1038/81642. PMID 11062474. S2CID 22952012.
- ^ Kind B, Koehler K, Lorenz M, Huebner A (December 2009). "The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope". Biochemical and Biophysical Research Communications. 390 (2): 205–10. doi:10.1016/j.bbrc.2009.09.080. PMID 19782045.
- ^ Cho AR, Yang KJ, Bae Y, Bahk YY, Kim E, Lee H, Kim JK, Park W, Rhim H, Choi SY, Imanaka T, Moon S, Yoon J, Yoon SK (June 2009). "Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome". Experimental & Molecular Medicine. 41 (6): 381–6. doi:10.3858/emm.2009.41.6.043. PMC 2705858. PMID 19322026.
- ^ a b Hirano M, Furiya Y, Asai H, Yasui A, Ueno S (February 2006). "ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome". Proc. Natl. Acad. Sci. U.S.A. 103 (7): 2298–303. Bibcode:2006PNAS..103.2298H. doi:10.1073/pnas.0505598103. PMC 1413683. PMID 16467144.
- ^ "Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)".
- ^ Carvalhal S, Stevense M, Koehler K, Naumann R, Huebner A, Jessberger R, Griffis ER (September 2017). "ALADIN is required for the production of fertile mouse oocytes". Mol. Biol. Cell. 28 (19): 2470–2478. doi:10.1091/mbc.E16-03-0158. PMC 5597320. PMID 28768824.
추가 읽기
- Jühlen R, Idkowiak J, Taylor AE, Kind B, Arlt W, Huebner A, Koehler K (2015). "Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis". PLOS ONE. 10 (4): e0124582. Bibcode:2015PLoSO..1024582J. doi:10.1371/journal.pone.0124582. PMC 4395102. PMID 25867024.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, Reis A, Clark AJ (December 1996). "Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster". Human Molecular Genetics. 5 (12): 2061–6. doi:10.1093/hmg/5.12.2061. PMID 8968764.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A (February 2001). "Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene". Human Molecular Genetics. 10 (3): 283–90. doi:10.1093/hmg/10.3.283. PMID 11159947.
- Sandrini F, Farmakidis C, Kirschner LS, Wu SM, Tullio-Pelet A, Lyonnet S, Metzger DL, Bourdony CJ, Tiosano D, Chan WY, Stratakis CA (November 2001). "Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin". The Journal of Clinical Endocrinology and Metabolism. 86 (11): 5433–7. doi:10.1210/jcem.86.11.8037. PMID 11701718.
- Schmittmann-Ohters K, Huebner A, Richter-Unruh A, Hauffa BP (2002). "Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome". Hormone Research. 56 (1–2): 67–72. doi:10.1159/000048093. PMID 11815731. S2CID 46834548.
- Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D (March 2002). "Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation". Neurology. 58 (6): 962–5. doi:10.1212/wnl.58.6.962. PMID 11914417.
- Cronshaw JM, Matunis MJ (May 2003). "The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome". Proceedings of the National Academy of Sciences of the United States of America. 100 (10): 5823–7. Bibcode:2003PNAS..100.5823C. doi:10.1073/pnas.1031047100. PMC 156285. PMID 12730363.
- Prpic I, Huebner A, Persic M, Handschug K, Pavletic M (May 2003). "Triple A syndrome: genotype-phenotype assessment". Clinical Genetics. 63 (5): 415–7. doi:10.1034/j.1399-0004.2003.00070.x. PMID 12752575. S2CID 19250948.
- Roubergue A, Apartis E, Vidailhet M, Mignot C, Tullio-Pelet A, Lyonnet S, de Villemeur TB (March 2004). "Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation". Movement Disorders. 19 (3): 344–6. doi:10.1002/mds.10660. PMID 15022193. S2CID 27038247.
- Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA (June 2004). "Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report". BMC Ophthalmology. 4: 7. doi:10.1186/1471-2415-4-7. PMC 459227. PMID 15217518.
- Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K (November 2004). "The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex". Endocrine Research. 30 (4): 891–9. doi:10.1081/ERC-200044138. PMID 15666842. S2CID 31047487.
- Storr HL, Clark AJ, Priestley JV, Michael GJ (2005). "Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation". Neuroscience. 131 (1): 113–23. doi:10.1016/j.neuroscience.2004.10.029. PMID 15680696. S2CID 7323257.
- Di Nardo G, Tullio-Pelet A, Annese V, Stanghellini V, Barbara G, Latiano A, Andriulli A, Cremon C, Salvioli B, Volta U, Corinaldesi R, Lyonnet S, De Giorgio R (May 2005). "Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus". Digestive and Liver Disease. 37 (5): 312–5. doi:10.1016/j.dld.2004.11.006. PMID 15843079.
- Li X, Ji C, Gu J, Xu J, Jin Z, Sun L, Zou X, Lin Y, Sun R, Wang P, Gu S, Mao Y (June 2005). "Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS". Molecular Biology Reports. 32 (2): 127–31. doi:10.1007/s11033-004-6939-9. PMID 16022285. S2CID 9034337.
- Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, Bei T, Bjornson B, Russell L, Chanoine JP, Tsagarakis S, Kalsner L, Stratakis C (September 2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics. 68 (3): 215–21. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009. S2CID 20404052.
- Papageorgiou L, Mimidis K, Katsani KR, Fakis G (January 2013). "The genetic basis of triple A (Allgrove) syndrome in a Greek family". Gene. 512 (2): 505–9. doi:10.1016/j.gene.2012.10.008. PMID 23073554.
외부 링크
- UCSC 게놈 브라우저에 있는 AAAS 인간 유전자 위치.
- UCSC 게놈 브라우저의 AAAS 인간 유전자 세부사항.
