• Gene id: 8086

Gene Summary

• Gene Symbol: AAAS   Gene   UCSC   Ensembl
• Aliases: AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003
• Gene name: aladin WD repeat nucleoporin
• Alternate names: aladin, Allgrove, triple-A, achalasia, adrenocortical insufficiency, alacrimia,
• Gene location: 12q13.13 (53321609: 53307455)     Exons: 16     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored the
• OMIM: 616512

Protein Summary

• Protein general information: Q9NRG9  
  • Name: Aladin (Adracalin)
  • Length: 546  
  • Mass: 59574
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGRLDHGTRTAFIHHREQ
  VWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRWASSLHGSLFPHLSLRSEDLIAEFAQVTNWS
  SCCLRVFAWHPHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIWTLDPT
  SLSTRPSSGCAQVLSHPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCVPLPWFRGGGVTNLLWSPDGS
  KILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFPERCGEGKGCVGGAKSA
  TIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKPVILLFRTRNSPVFELLPCGIIQGE
  PGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTS
  APWDPLPGPPPVLPHSPHSHL

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR019775  IPR017986  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000209873
• Other Databases: GeneCards:  AAAS  Malacards:  AAAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005643	nuclear pore	IBA	cellular component
GO:0006913	nucleocytoplasmic transport	IBA	biological process
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005643	nuclear pore	IEA	cellular component
GO:0051028	mRNA transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005643	nuclear pore	IDA	cellular component
GO:0006913	nucleocytoplasmic transport	IDA	biological process
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006409	tRNA export from nucleus	TAS	biological process
GO:0016032	viral process	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:0006110	regulation of glycolytic process	TAS	biological process
GO:0019083	viral transcription	TAS	biological process
GO:0075733	intracellular transport of virus	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0009566	fertilization	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0005643	nuclear pore	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043657	host cell	IEA	cellular component
GO:0005643	nuclear pore	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0001578	microtubule bundle formation	IMP	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0090307	mitotic spindle assembly	IMP	biological process
GO:0046822	regulation of nucleocytoplasmic transport	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Achalasia Addisonianism Alacrima syndrome	KEGG:H00257
Achalasia Addisonianism Alacrima syndrome	KEGG:H00257
Achalasia	PMID:16098009
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881