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AAAS Gene

protein-coding   GIFtS: 58
GCID: GC12M053701

Achalasia, Adrenocortical Insufficiency, Alacrimia

(Previous names: achalasia, adrenocortical insufficiency, alacrimia (Allgrove,...)
  See AAAS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Achalasia, Adrenocortical Insufficiency, Alacrimia1 2     triple-A1
aladin1 2     AAASb2
ADRACALA2 3     ADRACALIN2
AAA2 5     ALADIN2
Allgrove1     Allgrove, Triple-A2
Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, Triple-A)1     Adracalin3

External Ids:    HGNC: 136661   Entrez Gene: 80862   Ensembl: ENSG000000949147   OMIM: 6053785   UniProtKB: Q9NRG93   

Export aliases for AAAS gene to outside databases

Previous GC identifers: GC12P053994 GC12P053789 GC12M053417 GC12M051987 GC12M050742


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 idiopathic achalasia, and achalasia-addisonianism-alacrima syndrome.

UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9
Function: Plays a role in the normal development of the peripheral and central nervous system

Gene Wiki entry for AAAS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AAAS gene promoter:
         AP-1   ATF-2   MyoD   AP-2beta   c-Jun   NF-kappaB1   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAAAS promoter sequence
   Search Chromatin IP Primers for AAAS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AAAS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053701:  view genomic region     (about GC identifiers)

Start:
53,701,240 bp from pter      End:
53,718,648 bp from pter
Size:
17,409 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9 (See protein sequence)
Recommended Name: Aladin  
Size: 546 amino acids; 59574 Da
Secondary accessions: Q5JB47 Q9NWI6 Q9UG19
Alternative splicing: 2 isoforms:  Q9NRG9-1   Q9NRG9-2   (Ubiquitously expressed)

Explore the universe of human proteins at neXtProt for AAAS: NX_Q9NRG9

Explore proteomics data for AAAS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys52, Lys56, Lys301, Lys373, Lys416, Lys425, Lys466
  • Modification sites at PhosphoSitePlus

  • See AAAS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001166937.1  NP_056480.1  

    ENSEMBL proteins: 
     ENSP00000209873   ENSP00000377908   ENSP00000446885   ENSP00000457518   ENSP00000448020  
    Reactome Protein details: Q9NRG9

    AAAS Human Recombinant Protein Products:

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    Novus Biologicals AAAS Proteins
    Novus Biologicals AAAS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AAAS

     
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    antibodies-online proteins for AAAS (6 products) 

     
    Search antibodies-online for peptides for AAAS

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    antibodies-online antibodies for AAAS (31 products) 

    AAAS Assay Products:

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    antibodies-online kits for AAAS (5 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9NRG9

    ProtoNet protein and cluster: Q9NRG9

    UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9
    Similarity: Contains 4 WD repeats


    Find genes that share domains with AAAS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AAAS_HUMAN, Q9NRG9
    Function: Plays a role in the normal development of the peripheral and central nervous system

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with AAAS           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aaas):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  nervous system  reproductive system 

    Find genes that share phenotypes with AAAS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Aaastm1Ahue for AAAS

       genOway: Develop your customized and physiologically relevant rodent model for AAAS

    miRNA
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    miRTarBase miRNAs that target AAAS:
    hsa-mir-1296-5p (MIRT036148), hsa-mir-16-5p (MIRT031962), hsa-mir-28-5p (MIRT049994), hsa-mir-193b-3p (MIRT041345)

    Block miRNA regulation of human, mouse, rat AAAS using miScript Target Protectors
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AAAS

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    GenScript: all cDNA clones in your preferred vector (see all 2): AAAS (NM_015665)
    Sino Biological Human cDNA Clone for AAAS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AAAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAAS

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAAS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol3
    extracellular2
    endoplasmic reticulum1
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope TAS--
    GO:0005643colocalizes with nuclear pore IDA12730363
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with AAAS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AAAS About   (see all 14)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of the SLBP Dependant Mature mRNA0.92
    Export of Viral Ribonucleoproteins from Nucleus0.88
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Ribonucleoproteins into the Host Nucleus0.88
    Transport of the SLBP independent Mature mRNA0.91
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.87
    Nuclear import of Rev protein0.91
    Glucose transport0.87
    2HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.93
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93


    Find genes that share SuperPaths with AAAS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    Selected Reactome Pathways for AAAS (see all 6)
        Rev-mediated nuclear export of HIV RNA
    Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear import of Rev protein
    Nuclear Pore Complex (NPC) Disassembly
    Vpr-mediated nuclear import of PICs


    1 Kegg Pathway  (Kegg details for AAAS):
        RNA transport

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AAAS
    Interactions:

        Search GeneGlobe Interaction Network for AAAS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AAAS (Q9NRG93 ENSP000002098734) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGAP1Q079603I2D: score=5 
    PLK4O004443I2D: score=5 
    CLN3Q132863I2D: score=1 
    ALYREFENSP000003318174STRING: ENSP00000331817
    BANF1ENSP000003102754STRING: ENSP00000310275
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006913nucleocytoplasmic transport IDA12730363
    GO:0007077mitotic nuclear envelope disassembly TAS--
    GO:0007612learning IEA--

    Find genes that share ontologies with AAAS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AAAS

    1 Novoseek inferred chemical compound relationship for AAAS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth 58.3 3 18426811 (2), 18279781 (1)



    Find genes that share compounds with AAAS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AAAS gene (2 alternative transcripts): 
    NM_001173466.1  NM_015665.5  

    Unigene Cluster for AAAS:

    Achalasia, adrenocortical insufficiency, alacrimia
    Hs.369144  [show with all ESTs]
    Unigene Representative Sequence: AK094302
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000209873(uc001scr.4 uc001scs.4) ENST00000552876 ENST00000394384
    ENST00000550286 ENST00000548931 ENST00000550033 ENST00000547520 ENST00000546572
    ENST00000546393 ENST00000547761 ENST00000547757 ENST00000549983 ENST00000547238
    ENST00000549821 ENST00000549450 ENST00000548258 ENST00000551724 ENST00000552161

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    GenScript: all cDNA clones in your preferred vector (see all 2): AAAS (NM_015665)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AAAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAAS
    Primer
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    OriGene qPCR primer pairs and template standards for AAAS
    OriGene qSTAR qPCR primer pairs in human, mouse for AAAS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AAAS
      QuantiTect SYBR Green Assays in human, mouse, rat AAAS
      QuantiFast Probe-based Assays in human, mouse, rat AAAS

    Additional mRNA sequence: 

    AF226048.1 AJ289857.1 AK000833.1 AK094302.1 AK222509.1 AK293342.1 AL110160.1 AY237818.1 
    BC000659.2 BC018836.2 BT006912.1 

    20 DOTS entries:

    DT.416286  DT.95167303  DT.75103801  DT.121180914  DT.100846216  DT.100846222  DT.40259973  DT.65284108 
    DT.121180939  DT.95167301  DT.100029444  DT.92439335  DT.100758722  DT.121180903  DT.121180929  DT.416284 
    DT.92439331  DT.95167299  DT.95167302  DT.97850238 

    Selected AceView cDNA sequences (see all 372):

    CB137782 BU189192 BQ878499 AW340290 BM925751 CR591048 AA649195 BM743095 
    AI610462 AW473975 BI761621 CR595976 BP366407 CB123673 BQ051486 BM692621 
    BQ684807 BC018836 AL559497 CB121596 CB137689 CR619164 BU631921 CR593907 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AAAS (see all 12)    About this scheme

    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:                                      -     -                 -     -     -     -           -                                                               

    ExUns: 13 ^ 14 ^ 15a · 15b ^ 16
    SP1:                    -         
    SP2:                    -         
    SP3:                    -         
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for AAAS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AAAS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTGCCCCT
    AAAS Expression
    About this image

    AAAS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AAAS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369144

    UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9
    Tissue specificity: Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum,
    adrenal gland, pituitary gland, gastrointestinal structures and fetal lung

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAAS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AAAS gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aaas1 , 5 achalasia, adrenocortical insufficiency, alacrimia1, 5 87.48(n)1
    93.59(a)1
      15 (57.49 cM)5
    2239211  NM_153416.21  NP_700465.21 
     1023382475 
    chicken
    (Gallus gallus)
    Aves AAAS1 achalasia, adrenocortical insufficiency, alacrimia 69.57(n)
    69.57(a)
      100859661  XM_003643425.2  XP_003643473.1 
    lizard
    (Anolis carolinensis)
    Reptilia AAAS6
    achalasia, adrenocortical insufficiency, alacrimia...
    66(a)
    1 ↔ 1
    GL343536.1(28109-76313)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aaas1 achalasia, adrenocortical insufficiency, alacrimia 64.45(n)
    65.12(a)
      100485071  XM_002936631.2  XP_002936677.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aaas2 achalasia, adrenocortical insufficiency, alacrimia 74.03(n)   378454  AL911339.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG168921 , 3 CG168921 30(a)3
    42.83(n)1
    32.78(a)1
      8D123
    318811  NM_132329.31  NP_572557.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G569001 AT3G56900 43.91(n)
    33.43(a)
      824857  NM_115549.4  NP_191249.2 
    rice
    (Oryza sativa)
    Liliopsida Os11g01327001 Os11g0132700 41.83(n)
    31.7(a)
      4349688  NM_001072197.1  NP_001065665.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AAAS gene

    Find genes that share paralogs with AAAS           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AAAS
    PGOHUM00000243301


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AAAS (see all 449)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219185501,2,,4
    CAchalasia-addisonianism-alacrima syndrome (AAAS)4 pathogenic153537638(-) CAGCTC/TCACCC 4 P S mis10--------
    VAR_0128044
    Achalasia-addisonianism-alacrima syndrome (AAAS)4--see VAR_0128042 Q K mis40--------
    VAR_0128054
    Achalasia-addisonianism-alacrima syndrome (AAAS)4--see VAR_0128052 H R mis40--------
    rs1219185471,2
    Cpathogenic153537172(-) TCTTTC/TGGTGA 4 R * stg10--------
    rs1219185491,2
    Cpathogenic153549441(-) GGGGTA/CAAGTC 4 K Q mis10--------
    rs113392141,2
    C--50755124(+) AAAAA-/AAAAAA 2 -- int1 trp31Minor allele frequency- A:0.00NA 2
    rs2022133061,2
    C--53535002(+) CATGGC/TGGGGT 2 -- ds50010--------
    rs1425046691,2
    C--53535066(+) CCATGC/GAAGCG 2 -- ds50011Minor allele frequency- G:0.00NA 4544
    rs15342821,2
    C,F,H--53535078(-) CGCCAA/GTGAAG 2 -- ds500129Minor allele frequency- G:0.03MN NS EA NA WA CSA EU 7419
    rs1429538831,2
    C,F--53535083(+) CTGGCG/AGTCAC 2 -- ds50012Minor allele frequency- A:0.01NA EU 5841

    HapMap Linkage Disequilibrium report for AAAS (53701240 - 53718648 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AAAS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517066CNV Loss19592680

    Human Gene Mutation Database (HGMD): AAAS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AAAS
    DNA2.0 Custom Variant and Variant Library Synthesis for AAAS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605378   
    OMIM disorders: 231550  
    UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9
  • 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 8 diseases for AAAS:    
    About MalaCards
    idiopathic achalasia    achalasia-addisonianism-alacrima syndrome    achalasia    triple-a syndrome
    alacrima, achalasia, and mental retardation syndrome    adrenocortical insufficiency    abdominal aortic aneurysm    dysphagia

    4 diseases from the University of Copenhagen DISEASES database for AAAS:
    Abdominal aortic aneurysm     triple-A syndrome     Achalasia     Ruptured abdominal aortic aneurysm

    Find genes that share disorders with AAAS           About GenesLikeMe

    5 Novoseek inferred disease relationships for AAAS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alacrima 99.1 13 18628786 (2), 15680696 (1), 15690314 (1), 19172511 (1) (see all 10)
    allgrove syndrome 98.5 27 17880786 (3), 15516781 (2), 19703420 (2), 11062474 (1) (see all 17)
    achalasia 92.6 14 18628786 (1), 15680696 (1), 15690314 (1), 19172511 (1) (see all 11)
    neurological disorders 42.5 9 15680696 (1), 15690314 (1), 18662670 (1), 19855093 (1) (see all 6)
    genetic disorder 25.6 1 19322026 (1)


    Export disorders for AAAS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AAAS gene, integrated from 10 sources (see all 98):
    (articles sorted by number of sources associating them with AAAS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutant WD-repeat protein in triple-A syndrome. (PubMed id 11062474)1, 2, 3, 9 Tullio-Pelet A.... Lyonnet S. (Nat. Genet. 2000)
    2. Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS. (PubMed id 16022285)1, 2, 9 Li X.... Mao Y. (Mol. Biol. Rep. 2005)
    3. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. (PubMed id 11159947)1, 2, 9 Handschug K....Huebner A. (Hum. Mol. Genet. 2001)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. (PubMed id 15666842)1, 9 Huebner A....Koehler K. (Endocr. Res. 2004)
    7. The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. (PubMed id 19782045)1, 9 Kind B....Huebner A. (Biochem. Biophys. Res. Commun. 2009)
    8. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. (PubMed id 11701718)1, 9 Sandrini F....Stratakis C.A. (J. Clin. Endocrinol. Metab. 2001)
    9. Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation. (PubMed id 15680696)1, 9 Storr H.L....Michael G.J. (Neuroscience 2005)
    10. Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. (PubMed id 19855093)1, 9 Storr H.L....Clark A.J. (Mol. Endocrinol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8086 HGNC: 13666 AceView: AAAS Ensembl:ENSG00000094914 euGenes: HUgn8086
    ECgene: AAAS Kegg: 8086 H-InvDB: AAAS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AAAS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AAAS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AAAS gene:
    Search GeneIP for patents involving AAAS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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