Aladin (protein)

 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.

AAAS
Identifiers
Aliases	AAAS, AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003, aladin WD repeat nucleoporin
External IDs	OMIM: 605378 MGI: 2443767 HomoloGene: 9232 GeneCards: AAAS
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.13 Start 53,307,456 bp[1] End 53,324,864 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 F3 Start 102,338,252 bp[2] End 102,350,771 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • molecular function Cellular component • centrosome • not the membrane • nuclear envelope • membrane • nuclear pore • nucleoplasm • cell nucleus • cytosol • host cell • spindle pole • mitotic spindle • cytoplasm • cytoskeleton Biological process • regulation of nucleocytoplasmic transport • mRNA transport • viral transcription • learning • protein sumoylation • mitotic nuclear envelope disassembly • nucleocytoplasmic transport • regulation of cellular response to heat • protein transport • fertilization • GO:0022415 viral process • GO:0046795 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 assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8086	223921
Ensembl	ENSG00000094914	ENSMUSG00000036678
UniProt	Q9NRG9	P58742
RefSeq (mRNA)	NM_001173466 NM_015665	NM_153416
RefSeq (protein)	NP_001166937 NP_056480	NP_700465
Location (UCSC)	Chr 12: 53.31 – 53.32 Mb	Chr 15: 102.34 – 102.35 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

FunctionEdit

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 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 significanceEdit

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.

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.