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Aliases for AAAS Gene

Aliases for AAAS Gene

  • Achalasia, Adrenocortical Insufficiency, Alacrimia 2 3
  • ADRACALA 3 4
  • AAA 3 6
  • Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, Triple-A) 2
  • Allgrove, Triple-A 3
  • Allgrove 2
  • Triple-A 2
  • Aladin 2
  • ALADIN 3
  • AAASb 3
  • GL003 3

External Ids for AAAS Gene

Previous GeneCards Identifiers for AAAS Gene

  • GC12P053994
  • GC12P053789
  • GC12M053417
  • GC12M051987
  • GC12M053701
  • GC12M050742

Summaries for AAAS Gene

Entrez Gene Summary for AAAS Gene

  • 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 there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for AAAS Gene

AAAS (Achalasia, Adrenocortical Insufficiency, Alacrimia) is a Protein Coding gene. Diseases associated with AAAS include achalasia-addisonianism-alacrimia syndrome and abdominal aortic aneurysm. Among its related pathways are Disease and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for AAAS Gene

  • Plays a role in the normal development of the peripheral and central nervous system

Gene Wiki entry for AAAS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AAAS Gene

Genomics for AAAS Gene

Regulatory Elements for AAAS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AAAS Gene

53,307,456 bp from pter
53,324,864 bp from pter
17,409 bases
Minus strand

Genomic View for AAAS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AAAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AAAS Gene

Proteins for AAAS Gene

  • Protein details for AAAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q5JB47
    • Q9NWI6
    • Q9UG19

    Protein attributes for AAAS Gene

    546 amino acids
    Molecular mass:
    59574 Da
    Quaternary structure:
    • Interacts with NDC1, the interaction is required for nuclear pore localization.

    Alternative splice isoforms for AAAS Gene


neXtProt entry for AAAS Gene

Proteomics data for AAAS Gene at MOPED

Post-translational modifications for AAAS Gene

  • Ubiquitination at Lys52, Lys56, Lys301, Lys373, Lys416, Lys425, and Lys466
  • Modification sites at PhosphoSitePlus

Other Protein References for AAAS Gene

Antibody Products

No data available for DME Specific Peptides for AAAS Gene

Domains for AAAS Gene

Gene Families for AAAS Gene

Protein Domains for AAAS Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 7 WD repeats.
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with AAAS: view

Function for AAAS Gene

Molecular function for AAAS Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the normal development of the peripheral and central nervous system

Gene Ontology (GO) - Molecular Function for AAAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with AAAS: view
genes like me logo Genes that share phenotypes with AAAS: view

Animal Models for AAAS Gene

MGI Knock Outs for AAAS:

Animal Model Products

miRNA for AAAS Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AAAS

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AAAS Gene

Localization for AAAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AAAS Gene

Nucleus, nuclear pore complex.

Subcellular locations from

Jensen Localization Image for AAAS Gene COMPARTMENTS Subcellular localization image for AAAS gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 3
extracellular 2
endoplasmic reticulum 1
lysosome 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AAAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005635 nuclear envelope TAS --
GO:0005643 colocalizes_with nuclear pore IDA 12730363
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with AAAS: view

Pathways for AAAS Gene

SuperPathways for AAAS Gene

genes like me logo Genes that share pathways with AAAS: view

Pathways by source for AAAS Gene

42 Reactome pathways for AAAS Gene
1 KEGG pathway for AAAS Gene

Interacting Proteins for AAAS Gene

Gene Ontology (GO) - Biological Process for AAAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006913 nucleocytoplasmic transport IDA 12730363
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0007612 learning IEA --
genes like me logo Genes that share ontologies with AAAS: view

Compounds for AAAS Gene

(1) Novoseek inferred chemical compound relationships for AAAS Gene

Compound -log(P) Hits PubMed IDs
acth 58.3 3
genes like me logo Genes that share compounds with AAAS: view

Transcripts for AAAS Gene

Unigene Clusters for AAAS Gene

Achalasia, adrenocortical insufficiency, alacrimia:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AAAS

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AAAS Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - -
SP9: - - -
SP10: - -
SP12: -

ExUns: 13 ^ 14 ^ 15a · 15b ^ 16
SP1: -
SP2: -
SP3: -

Relevant External Links for AAAS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AAAS Gene

mRNA expression in normal human tissues for AAAS Gene

Protein differential expression in normal tissues for AAAS Gene

This gene is overexpressed in Nasal epithelium (43.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AAAS Gene

SOURCE GeneReport for Unigene cluster for AAAS Gene Hs.369144

mRNA Expression by UniProt/SwissProt for AAAS Gene

Tissue specificity: Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung.
genes like me logo Genes that share expressions with AAAS: view

Expression partners for AAAS Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AAAS Gene

Orthologs for AAAS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AAAS Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AAAS 35
  • 90.84 (n)
  • 95.97 (a)
  • 94 (a)
(Canis familiaris)
Mammalia AAAS 35
  • 87.97 (n)
  • 93.77 (a)
  • 94 (a)
(Mus musculus)
Mammalia Aaas 35
  • 87.48 (n)
  • 93.59 (a)
Aaas 16
Aaas 36
  • 94 (a)
(Pan troglodytes)
Mammalia AAAS 35
  • 99.63 (n)
  • 99.63 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Aaas 35
  • 87.36 (n)
  • 92.31 (a)
(Gallus gallus)
Aves AAAS 35
  • 69.57 (n)
  • 69.57 (a)
  • 67 (a)
(Anolis carolinensis)
Reptilia AAAS 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aaas 35
  • 64.45 (n)
  • 65.12 (a)
(Danio rerio)
Actinopterygii aaas 35
  • 60.94 (n)
  • 56.97 (a)
aaas 36
  • 56 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16892 37
  • 30 (a)
CG16892 35
  • 42.83 (n)
  • 32.78 (a)
CG13137 36
  • 25 (a)
CG16892 36
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010685 35
  • 44.57 (n)
  • 36.41 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G56900 35
  • 43.91 (n)
  • 33.43 (a)
(Oryza sativa)
Liliopsida Os11g0132700 35
  • 41.83 (n)
  • 31.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
Species with no ortholog for AAAS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AAAS Gene

Gene Tree for AAAS (if available)
Gene Tree for AAAS (if available)

Paralogs for AAAS Gene Pseudogenes for AAAS Gene

genes like me logo Genes that share paralogs with AAAS: view

No data available for Paralogs for AAAS Gene

Variants for AAAS Gene

Sequence variations from dbSNP and Humsavar for AAAS Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs13330 - 53,315,411(+) CCGTC(A/T)TCACC reference, missense
rs1534282 -- 53,307,064(-) CGCCA(A/G)TGAAG downstream-variant-500B
rs1546808 Likely benign 53,309,237(-) TGGTT(C/T)CGAGG reference, synonymous-codon
rs4759020 -- 53,321,209(-) AGGAG(A/G)CTAGA intron-variant, missense, reference
rs4759021 -- 53,321,084(-) GGATG(C/T)GGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AAAS Gene

Variant ID Type Subtype PubMed ID
nsv517066 CNV Loss 19592680

Relevant External Links for AAAS Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AAAS Gene

Disorders for AAAS Gene

(1) OMIM Diseases for AAAS Gene (605378)


  • Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]: An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. {ECO:0000269 PubMed:11159947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) Novoseek inferred disease relationships for AAAS Gene

Disease -log(P) Hits PubMed IDs
alacrima 99.1 11
allgrove syndrome 98.5 21
achalasia 92.6 11
neurological disorders 42.5 6
genetic disorder 25.6 1
genes like me logo Genes that share disorders with AAAS: view

No data available for Genatlas and External Links for AAAS Gene

Publications for AAAS Gene

  1. Mutant WD-repeat protein in triple-A syndrome. (PMID: 11062474) Tullio-Pelet A. … Lyonnet S. (Nat. Genet. 2000) 2 3 4 23
  2. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. (PMID: 11159947) Handschug K. … Huebner A. (Hum. Mol. Genet. 2001) 3 4 23
  3. Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS. (PMID: 16022285) Li X. … Mao Y. (Mol. Biol. Rep. 2005) 3 4 23
  4. The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. (PMID: 19782045) Kind B. … Huebner A. (Biochem. Biophys. Res. Commun. 2009) 3 4 23
  5. Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. (PMID: 19855093) Storr H.L. … Clark A.J. (Mol. Endocrinol. 2009) 3 23

Products for AAAS Gene

Sources for AAAS Gene

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