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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
  • ADRACALIN 3 4
  • ADRACALA 3 4
  • Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, Triple-A) 2
  • Allgrove, Triple-A 3
  • Adracalin 2
  • Allgrove 2
  • Triple-A 2
  • Aladin 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-alacrimia syndrome and achalasia. Among its related pathways are RNA transport and Regulation of Glucokinase by Glucokinase Regulatory Protein.

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

Enhancers for AAAS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AAAS on UCSC Golden Path with GeneCards custom track

Promoters for AAAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AAAS on UCSC Golden Path with GeneCards custom track

Genomic Location for AAAS Gene

Chromosome:
12
Start:
53,307,456 bp from pter
End:
53,324,864 bp from pter
Size:
17,409 bases
Orientation:
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:
    Q9NRG9-AAAS_HUMAN
    Recommended name:
    Aladin
    Protein Accession:
    Q9NRG9
    Secondary Accessions:
    • Q5JB47
    • Q9NWI6
    • Q9UG19

    Protein attributes for AAAS Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for AAAS Gene

Proteomics data for AAAS Gene at MOPED

Post-translational modifications for AAAS Gene

  • Ubiquitination at Lys 52, Lys 301, Lys 373, Lys 416, Lys 425, and Lys 466
  • Modification sites at PhosphoSitePlus

Other Protein References for AAAS Gene

No data available for DME Specific Peptides for AAAS Gene

Domains & Families for AAAS Gene

Gene Families for AAAS Gene

Protein Domains for AAAS Gene

Graphical View of Domain Structure for InterPro Entry

Q9NRG9

UniProtKB/Swiss-Prot:

AAAS_HUMAN :
  • Contains 7 WD repeats.
Similarity:
  • 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.
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:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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

Gene Ontology (GO) - Cellular Components for AAAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005643 colocalizes_with nuclear pore IDA 12730363
GO:0016020 membrane IDA 19946888
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with AAAS: view

Pathways & Interactions for AAAS Gene

SuperPathways for AAAS Gene

Superpath Contained pathways
1 Regulation of Glucokinase by Glucokinase Regulatory Protein
2 Infectious disease
.48
3 Cell Cycle, Mitotic
.61
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

Interacting Proteins for AAAS Gene

Gene Ontology (GO) - Biological Process for AAAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006913 nucleocytoplasmic transport IDA 12730363
GO:0007612 learning IEA --
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

Unigene Clusters for AAAS Gene

Achalasia, adrenocortical insufficiency, alacrimia:
Representative Sequences:

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: - - - - - - -
SP4:
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - -
SP9: - - -
SP10: - -
SP11:
SP12: -

ExUns: 13 ^ 14 ^ 15a · 15b ^ 16
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for AAAS Gene

GeneLoc Exon Structure for
AAAS
ECgene alternative splicing isoforms for
AAAS

Expression for AAAS Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for AAAS Gene



SOURCE GeneReport for Unigene cluster for AAAS Gene Hs.369144

mRNA Expression by UniProt/SwissProt for AAAS Gene

Q9NRG9-AAAS_HUMAN
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 expression patterns with AAAS: view

Protein tissue co-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
cow
(Bos Taurus)
Mammalia AAAS 35
  • 90.84 (n)
  • 95.97 (a)
AAAS 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AAAS 35
  • 87.97 (n)
  • 93.77 (a)
AAAS 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aaas 35
  • 87.48 (n)
  • 93.59 (a)
Aaas 16
Aaas 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AAAS 35
  • 99.63 (n)
  • 99.63 (a)
AAAS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aaas 35
  • 87.36 (n)
  • 92.31 (a)
chicken
(Gallus gallus)
Aves AAAS 35
  • 69.57 (n)
  • 69.57 (a)
AAAS 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AAAS 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aaas 35
  • 64.45 (n)
  • 65.12 (a)
zebrafish
(Danio rerio)
Actinopterygii aaas 35
  • 60.94 (n)
  • 56.97 (a)
aaas 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16892 37
  • 30 (a)
CG16892 35
  • 42.83 (n)
  • 32.78 (a)
CG13137 36
  • 25 (a)
OneToMany
CG16892 36
  • 30 (a)
OneToMany
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)
rice
(Oryza sativa)
Liliopsida Os11g0132700 35
  • 41.83 (n)
  • 31.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToOne
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

ENSEMBL:
Gene Tree for AAAS (if available)
TreeFam:
Gene Tree for AAAS (if available)

Paralogs for AAAS Gene

Pseudogenes.org 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
VAR_012804 Achalasia-addisonianism-alacrima syndrome (AAAS)
VAR_012805 Achalasia-addisonianism-alacrima syndrome (AAAS)
rs121918550 Achalasia-addisonianism-alacrima syndrome (AAAS) 53,309,624(-) CAGCT(C/T)CACCC reference, missense
rs13330 - 53,315,411(+) CCGTC(A/T)TCACC reference, missense
rs7298879 -- 53,320,725(+) GGTGA(G/T)TCAGT intron-variant

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)

Relevant External Links for AAAS Gene

HapMap Linkage Disequilibrium report
AAAS
Human Gene Mutation Database (HGMD)
AAAS

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

Disorders for AAAS Gene

MalaCards: The human disease database

(8) MalaCards diseases for AAAS Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achalasia-addisonianism-alacrimia syndrome
  • triple-a syndrome
achalasia
  • achalasia of cardia
abdominal aortic aneurysm
  • aortic aneurysm, familial abdominal 1
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
suppurative periapical periodontitis
  • apical abscess
- elite association - COSMIC cancer census association via MalaCards
Search AAAS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AAAS_HUMAN
  • 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.

Relevant External Links for AAAS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2000) 2 3 4 23 67
  2. The transmembrane nucleoporin NDC1 is required for targeting of ALADIN to nuclear pore complexes. (PMID: 19703420) Yamazumi Y. … Akiyama T. (Biochem. Biophys. Res. Commun. 2009) 3 23
  3. 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 23
  4. 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
  5. Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. (PMID: 19172511) Villanueva-Mendoza C. … Zenteno J.C. (Ophthalmic Genet. 2009) 3 23

Products for AAAS Gene

Sources for AAAS Gene

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