Aladin (protein)

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AAAS
Identifiers
AliasesAAAS, AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003, aladin WD repeat nucleoporin
External IDsOMIM: 605378 MGI: 2443767 HomoloGene: 9232 GeneCards: AAAS
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for AAAS
Genomic location for AAAS
Band12q13.13Start53,307,457 bp[1]
End53,324,864 bp[1]
RNA expression pattern
PBB GE AAAS 218075 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001173466
NM_015665

NM_153416

RefSeq (protein)

NP_001166937
NP_056480

NP_700465

Location (UCSC)Chr 12: 53.31 – 53.32 MbChr 15: 102.34 – 102.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

Function[edit]

Aladin 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 apraxin, 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[edit]

Mutations 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]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000094914 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036678 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ 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. doi:10.1073/pnas.0505598103. PMC 1413683. PMID 16467144.
  9. ^ "Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)".
  10. ^ 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[edit]

External links[edit]