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 syndro... See more...

Aliases for AAAS Gene

Aliases for AAAS Gene

  • Aladin WD Repeat Nucleoporin 2 3 5
  • Aladin 2 3 4
  • Achalasia, Adrenocortical Insufficiency, Alacrimia 2 3
  • Allgrove, Triple-A 2 3
  • Adracalin 2 4
  • ADRACALA 3 4
  • Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, Triple-A) 2
  • HSALNG0091262 167
  • HSALNG0091264 167
  • ADRACALIN 3
  • Lnc-SP7-2 168
  • Lnc-SP7-1 168
  • 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 Spastic Paraparesis. Among its related pathways are Metabolism of proteins and HIV Life Cycle.

UniProtKB/Swiss-Prot Summary for AAAS Gene

  • Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606).

Gene Wiki entry for AAAS Gene

Additional gene information for AAAS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AAAS Gene

Genomics for AAAS Gene

GeneHancer (GH) Regulatory Elements for AAAS Gene

Promoters and enhancers for AAAS Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AAAS

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

Genomic Locations for AAAS Gene

Genomic Locations for AAAS Gene
chr12:53,307,456-53,324,864
(GRCh38/hg38)
Size:
17,409 bases
Orientation:
Minus strand
chr12:53,701,240-53,718,648
(GRCh37/hg19)
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 (PubMed:19782045). Interacts with the inactive form aurora kinase AURKA (PubMed:26246606).
    Miscellaneous:
    • [Isoform 2]: Ubiquitously expressed.

    Alternative splice isoforms for AAAS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AAAS Gene

Post-translational modifications for AAAS Gene

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

No data available for DME Specific Peptides for AAAS Gene

Domains & Families for AAAS Gene

Gene Families for AAAS Gene

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

Protein Domains for AAAS Gene

Suggested Antigen Peptide Sequences for AAAS Gene

GenScript: Design optimal peptide antigens:
  • Adracalin (AAAS_HUMAN)
  • Mutant Allgrove syndrome protein (D9DBS9_HUMAN)
  • Mutant Allgrove syndrome protein (D9DBT0_HUMAN)
  • Mutant Allgrove syndrome protein (D9DBT1_HUMAN)
  • Mutant Allgrove syndrome protein (D9DBT2_HUMAN)
genes like me logo Genes that share domains with AAAS: view

No data available for Graphical View of Domain Structure and 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 (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606).

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

CRISPR 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. Cytoplasm, cytoskeleton, spindle pole. Note=In metaphase cells localizes within the spindle with some accumulation around spindle poles, with the highest concentration between the centrosome and metaphase plate (PubMed:26246606). The localization to the spindle is microtubule-mediated (PubMed:26246606). {ECO:0000269 PubMed:26246606}.

Subcellular locations from

COMPARTMENTS
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
plasma membrane 2
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

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:0000922 spindle pole IDA 26246606
GO:0005634 nucleus HDA,IEA 21630459
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IDA,IBA 12730363
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with AAAS: view

Pathways & Interactions for AAAS Gene

PathCards logo

SuperPathways for AAAS Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
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:0001578 microtubule bundle formation IMP 26246606
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
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

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
7 RNACentral transcripts :
2 LncBook transcripts :
5 LNCipedia transcripts :

CRISPR Products

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: - - - - - - -
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

Expression for AAAS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AAAS

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 (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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • mouth
  • pharynx
  • skull
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
  • stomach
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • 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