Biology:Aladin (protein)
From HandWiki
Short description: Nuclear envelope protein
 Generic protein structure example |
Aladin, also known as adracalin, is a nuclear envelope protein that in humans is encoded by the AAAS gene.[1] It is named after the achalasia–addisonianism–alacrima syndrome (triple A syndrome) which occurs when the gene is mutated.
Function
Aladin is a component of the nuclear pore complex, to which it is attached by nucleoporin NDC1.[2][3] Mutant aladin causes selective failure of nuclear protein import and hypersensitivity to oxidative stress.[4] Mutant aladin also causes decreased nuclear import of aprataxin, a repair protein for single-strand breaks, and DNA ligase I, employed in DNA base excision repair.[4] These decreases in DNA repair proteins may increase the susceptibility of cells to oxidative stress by allowing accumulation of oxidative DNA damages that trigger cell death.
Clinical significance
Mutations in the AAAS gene are responsible for Triple A syndrome (also known as Allgrove Syndrome).[5] Triple-A syndrome is an autosomal recessive neuroendocrinological disease.
Aladin is also employed in specific oocyte meiotic stages, including spindle assembly and spindle positioning.[6] Female mice homozygously null for aladin are sterile.
References
- ↑ "Mutant WD-repeat protein in triple-A syndrome". Nature Genetics 26 (3): 332–5. November 2000. doi:10.1038/81642. PMID 11062474.
- ↑ "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. December 2009. doi:10.1016/j.bbrc.2009.09.080. PMID 19782045.
- ↑ "Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome". Experimental & Molecular Medicine 41 (6): 381–6. June 2009. doi:10.3858/emm.2009.41.6.043. PMID 19322026.
- ↑ 4.0 4.1 "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. February 2006. doi:10.1073/pnas.0505598103. PMID 16467144. Bibcode: 2006PNAS..103.2298H.
- ↑ "Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8086.
- ↑ "ALADIN is required for the production of fertile mouse oocytes". Mol. Biol. Cell 28 (19): 2470–2478. September 2017. doi:10.1091/mbc.E16-03-0158. PMID 28768824.
Further reading
- "Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis". PLOS ONE 10 (4): e0124582. 2015. doi:10.1371/journal.pone.0124582. PMID 25867024. Bibcode: 2015PLoSO..1024582J.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "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. December 1996. doi:10.1093/hmg/5.12.2061. PMID 8968764.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene". Human Molecular Genetics 10 (3): 283–90. February 2001. doi:10.1093/hmg/10.3.283. PMID 11159947.
- "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. November 2001. doi:10.1210/jcem.86.11.8037. PMID 11701718.
- "Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome". Hormone Research 56 (1–2): 67–72. 2002. doi:10.1159/000048093. PMID 11815731.
- "Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation". Neurology 58 (6): 962–5. March 2002. doi:10.1212/wnl.58.6.962. PMID 11914417.
- "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. May 2003. doi:10.1073/pnas.1031047100. PMID 12730363. Bibcode: 2003PNAS..100.5823C.
- "Triple A syndrome: genotype-phenotype assessment". Clinical Genetics 63 (5): 415–7. May 2003. doi:10.1034/j.1399-0004.2003.00070.x. PMID 12752575.
- "Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation". Movement Disorders 19 (3): 344–6. March 2004. doi:10.1002/mds.10660. PMID 15022193.
- "Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report". BMC Ophthalmology 4: 7. June 2004. doi:10.1186/1471-2415-4-7. PMID 15217518.
- "The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex". Endocrine Research 30 (4): 891–9. November 2004. doi:10.1081/ERC-200044138. PMID 15666842.
- "Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation". Neuroscience 131 (1): 113–23. 2005. doi:10.1016/j.neuroscience.2004.10.029. PMID 15680696.
- "Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus". Digestive and Liver Disease 37 (5): 312–5. May 2005. doi:10.1016/j.dld.2004.11.006. PMID 15843079.
- "Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS". Molecular Biology Reports 32 (2): 127–31. June 2005. doi:10.1007/s11033-004-6939-9. PMID 16022285.
- "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics 68 (3): 215–21. September 2005. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009.
- "The genetic basis of triple A (Allgrove) syndrome in a Greek family". Gene 512 (2): 505–9. January 2013. doi:10.1016/j.gene.2012.10.008. PMID 23073554.
External links
- AAAS human gene location in the UCSC Genome Browser.
- AAAS human gene details in the UCSC Genome Browser.
 |  |
