Aladin, also known as adracalin, is a nuclear envelopeprotein that in humans is encoded by the AAASgene.[5] It is named after the achalasia–addisonianism–alacrima syndrome (triple A syndrome) which occurs when the gene is mutated.
^ abcGRCh38: Ensembl release 89: ENSG00000094914 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000036678 - Ensembl, May 2017
^"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. PMC2705858. PMID 19322026.
^ abHirano 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. PMC1413683. PMID 16467144.
^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. PMC5597320. PMID 28768824.
Further readingedit
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. PMC4395102. 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. CiteSeerX10.1.1.329.7433. 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. PMC156285. 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. PMC459227. 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.
aladin, protein, aladin, also, known, adracalin, nuclear, envelope, protein, that, humans, encoded, aaas, gene, named, after, achalasia, addisonianism, alacrima, syndrome, triple, syndrome, which, occurs, when, gene, mutated, aaasidentifiersaliasesaaas, aaasb,. Aladin also known as adracalin is a nuclear envelope protein that in humans is encoded by the AAAS gene 5 It is named after the achalasia addisonianism alacrima syndrome triple A syndrome which occurs when the gene is mutated AAASIdentifiersAliasesAAAS AAA AAASb ADRACALA ADRACALIN ALADIN GL003 aladin WD repeat nucleoporinExternal IDsOMIM 605378 MGI 2443767 HomoloGene 9232 GeneCards AAASGene location Human Chr Chromosome 12 human 1 Band12q13 13Start53 307 456 bp 1 End53 324 864 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 15 F3Start102 246 687 bp 2 End102 259 206 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright uterine tubeanterior pituitaryganglionic eminenceright coronary arterypopliteal arteryright lobe of thyroid glandcanal of the cervixbody of stomachascending aortabody of pancreasTop expressed inyolk sacmorulaspermatocytespermatidsecondary oocyteprimitive streakinternal carotid arteryneural tubethymuslipMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionmolecular functionCellular componentcentrosome nuclear membrane nuclear envelope membrane nuclear pore nucleoplasm nucleus cytosol host cell spindle pole mitotic spindle cytoplasm cytoskeletonBiological processregulation of nucleocytoplasmic transport mRNA transport viral transcription learning protein sumoylation mitotic nuclear membrane disassembly nucleocytoplasmic transport regulation of cellular response to heat protein transport fertilization viral process intracellular transport of virus tRNA export from nucleus mRNA export from nucleus regulation of gene silencing by miRNA regulation of glycolytic process transport microtubule bundle formation mitotic spindle assemblySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez8086223921EnsemblENSG00000094914ENSMUSG00000036678UniProtQ9NRG9P58742RefSeq mRNA NM 001173466NM 015665NM 153416RefSeq protein NP 001166937NP 056480NP 700465Location UCSC Chr 12 53 31 53 32 MbChr 15 102 25 102 26 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further reading 5 External linksFunction editAladin is a component of the nuclear pore complex to which it is attached by nucleoporin NDC1 6 7 Mutant aladin causes selective failure of nuclear protein import and hypersensitivity to oxidative stress 8 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 8 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 editMutations in the AAAS gene are responsible for Triple A syndrome also known as Allgrove Syndrome 9 Triple A syndrome is an autosomal recessive neuroendocrinological disease Aladin is also employed in specific oocyte meiotic stages including spindle assembly and spindle positioning 10 Female mice homozygously null for aladin are sterile References edit a b c GRCh38 Ensembl release 89 ENSG00000094914 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000036678 Ensembl May 2017 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 Begeot 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 amp 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 Further reading editJuhlen 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 CiteSeerX 10 1 1 329 7433 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 External links editAAAS human gene location in the UCSC Genome Browser AAAS human gene details in the UCSC Genome Browser nbsp This article on a gene on human chromosome 12 is a stub You can help Wikipedia by expanding it vte Retrieved from https 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