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Aliases for AAAS Gene

Aliases for AAAS Gene

  • Aladin WD Repeat Nucleoporin 2 3 5
  • Achalasia, Adrenocortical Insufficiency, Alacrimia 2 3
  • Allgrove, Triple-A 2 3
  • Adracalin 2 4
  • ADRACALA 3 4
  • Aladin 2 3
  • Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, Triple-A) 2
  • ALADIN 3
  • AAASb 3
  • GL003 3
  • AAA 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 (Aladin WD Repeat Nucleoporin) is a Protein Coding gene. Diseases associated with AAAS include Achalasia-Addisonianism-Alacrima Syndrome and Achalasia. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA.

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

Additional gene information for AAAS Gene

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

Genomics for AAAS Gene

GeneHancer (GH) Regulatory Elements for AAAS Gene

Promoters and enhancers for AAAS Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J053320 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 696 +3.5 3476 2.3 CLOCK FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 AAAS GC12M053329 PIR38393 PIR33338 GC12M053328 ESPL1 SP1 PCBP2 MAP3K12 ENSG00000258344
GH12J053323 Promoter/Enhancer 1.6 Ensembl ENCODE 675.3 -0.2 -175 2.9 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B AAAS GC12M053303 SP1 PCBP2 ENSG00000258344 ZNF740 LOC100652999 ATP5MC2 ATF7 CALCOCO1
GH12J052894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 92 +421.9 421936 16.1 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GC12M052900 AAAS ZNF740 PCBP2 SP1 MAP3K12 LOC100652999 ATF7 EIF4B ENSG00000257808
GH12J053452 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 59.3 -128.1 -128068 3.1 MLX ZFP64 DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 PCBP2 AAAS SP1 ZNF740 ENSG00000258344 C12orf10 MAP3K12 HNRNPA1 NPFF ATF7
GH12J052941 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 39 +377.3 377253 11.7 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 E2F8 SP3 NFYC KRT18 AAAS PCBP2 SP1 ZNF740 LOC100652999 ENSG00000257808 EIF4B ATG101 ATF7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AAAS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AAAS gene promoter:
  • AP-1
  • NF-kappaB1
  • ATF-2
  • c-Jun
  • MyoD
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta

Genomic Locations for AAAS Gene

Genomic Locations for AAAS Gene
17,409 bases
Minus strand
17,409 bases
Minus strand

Genomic View for AAAS Gene

Genes around AAAS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AAAS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for AAAS Gene

  • Ubiquitination at Lys466, posLast=425425, posLast=416416, Lys373, posLast=301301, and posLast=5252
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AAAS Gene

Domains & Families for AAAS Gene

Gene Families for AAAS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for AAAS Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for AAAS Gene

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.

Phenotypes From GWAS Catalog for AAAS Gene

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 IEA --
genes like me logo Genes that share ontologies with AAAS: view
genes like me logo Genes that share phenotypes with AAAS: view

Human Phenotype Ontology for AAAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AAAS Gene

MGI Knock Outs for AAAS:
  • Aaas Aaas<tm1Ahue>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AAAS gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 3
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AAAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA,IEA 21630459
GO:0005635 nuclear envelope TAS --
GO:0005643 colocalizes_with nuclear pore IEA,IDA 12730363
GO:0005654 nucleoplasm IDA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with AAAS: view

Pathways & Interactions for AAAS Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
3 Cell Cycle, Mitotic
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with AAAS: view

Pathways by source for AAAS Gene

Gene Ontology (GO) - Biological Process for AAAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006913 nucleocytoplasmic transport IDA 12730363
GO:0007077 mitotic nuclear envelope disassembly TAS --
genes like me logo Genes that share ontologies with AAAS: view

No data available for SIGNOR curated interactions for AAAS Gene

Drugs & Compounds for AAAS Gene

(1) Drugs for AAAS Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AAAS: view

Transcripts for AAAS Gene

mRNA/cDNA for AAAS Gene

Unigene Clusters for AAAS Gene

Achalasia, adrenocortical insufficiency, alacrimia:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for AAAS Gene

Protein differential expression in normal tissues from HIPED for AAAS Gene

This gene is overexpressed in Nasal epithelium (43.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AAAS Gene

Protein tissue co-expression partners for AAAS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AAAS Gene:


SOURCE GeneReport for Unigene cluster for AAAS Gene:


mRNA Expression by UniProt/SwissProt for AAAS Gene:

Tissue specificity: Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947).

Evidence on tissue expression from TISSUES for AAAS Gene

  • Kidney(4.5)
  • Nervous system(4.5)
  • Liver(4.2)
  • Blood(2.8)
  • Muscle(2.7)
  • Adrenal gland(2.6)
  • Heart(2.2)
  • Skin(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AAAS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • mouth
  • pharynx
  • skull
  • esophagus
  • heart
  • adrenal gland
  • kidney
  • pancreas
  • stomach
  • foot
  • hand
  • lower limb
  • upper limb
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AAAS: view

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
(Pan troglodytes)
Mammalia AAAS 34 33
  • 99.63 (n)
(Bos Taurus)
Mammalia AAAS 34 33
  • 90.84 (n)
(Canis familiaris)
Mammalia AAAS 34 33
  • 87.97 (n)
(Mus musculus)
Mammalia Aaas 16 34 33
  • 87.48 (n)
(Rattus norvegicus)
Mammalia Aaas 33
  • 87.36 (n)
(Gallus gallus)
Aves AAAS 34 33
  • 69.57 (n)
(Anolis carolinensis)
Reptilia AAAS 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aaas 33
  • 64.45 (n)
(Danio rerio)
Actinopterygii aaas 34 33 33
  • 60.94 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010685 33
  • 44.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16892 34 35 33
  • 42.83 (n)
CG13137 34
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G56900 33
  • 43.91 (n)
(Oryza sativa)
Liliopsida Os11g0132700 33
  • 41.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
Species where no ortholog for AAAS was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for AAAS: view image

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 Variation AA Info Type
rs1035139364 pathogenic, Glucocorticoid deficiency with achalasia 53,308,724(-) C/T splice_donor_variant
rs112579822 uncertain-significance, Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome 53,308,082(-) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs112987708 likely-benign, Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome 53,307,573(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs11540353 likely-benign, Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome 53,315,126(-) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs121918547 pathogenic, Glucocorticoid deficiency with achalasia 53,309,158(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv517066 CNV loss 19592680

Variation tolerance for AAAS Gene

Residual Variation Intolerance Score: 34.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AAAS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for AAAS Gene

MalaCards: The human disease database

(9) MalaCards diseases for AAAS Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achalasia-addisonianism-alacrima syndrome
  • aaa
  • achalasia of cardia
spastic paraparesis
idiopathic achalasia
  • achalasia
aortic disease
  • aortic disorder
- elite association - COSMIC cancer census association via MalaCards
Search AAAS in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for AAAS

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

No data available for Genatlas for AAAS Gene

Publications for AAAS Gene

  1. Mutant WD-repeat protein in triple-A syndrome. (PMID: 11062474) Tullio-Pelet A … Lyonnet S (Nature genetics 2000) 2 3 4 22 58
  2. 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 (Biochemical and biophysical research communications 2009) 3 4 22 58
  3. Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS. (PMID: 16022285) Li X … Mao Y (Molecular biology reports 2005) 3 4 22 58
  4. Proteomic analysis of the mammalian nuclear pore complex. (PMID: 12196509) Cronshaw JM … Matunis MJ (The Journal of cell biology 2002) 2 3 22 58
  5. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. (PMID: 11159947) Handschug K … Huebner A (Human molecular genetics 2001) 3 4 22 58

Products for AAAS Gene