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AAAS Gene

protein-coding   GIFtS: 57

GC12M051987
achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
AAA 2, 5
AAASb 2
ADRACALA 2, 3
ADRACALIN 2
ALADIN 2
Adracalin 3
DKFZp586G1624 2
GL003 2
Descriptions
achalasia, adrenocortical insufficiency, alacrimia
(Allgrove, triple-A) 2
External Ids
HGNC: 136661
Entrez Gene: 80862
UniProtKB: Q9NRG93
Ensembl: ENSG000000949147
Search outside databases for aliases for AAAS gene

Previous GC identifers: GC12P053994 GC12P053789 GC12M053417

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AAAS gene  

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)

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M051987:     (about GC identifiers)

Start:
51,987,507 bp from pter
End:
52,001,648 bp from pter
Size:
14,142 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000012.10  NT_029419.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9 (See protein sequence)
Recommended Name: Aladin  
Size: 546 amino acids; 59574 Da
Secondary accessions: Q9NWI6 Q9UG19

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_056480.1  

    ENSEMBL proteins: 
    ENSP00000209873 ENSP00000377908 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Adracalin)
    Human Recombinant Proteins from Abnova (AAAS)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005643colocalizes with nuclear pore IDA12730363
    About this table

    Antibodies for AAAS: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for AAAS
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Adracalin), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (AAAS)
    Novus Biologicals Antibodies for AAAS

    Assays for AAAS: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/6 InterPro domains/families (see all 6 ):
     IPR019782 WD40_repeat_2
     IPR019775 WD40_repeat_CS
     IPR017986 WD40_repeat_region
     IPR015943 WD40/YVTN_repeat-like
     IPR001680 WD40_repeat


       GeneDecks  AAAS for the domains selected above  
    About GeneDecksing

    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (AAAS)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AAAS)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015665

                  Applied Biosystems Silencer® siRNAs for AAAS

                  Sigma-Aldrich siRNA for AAAS  
                         Sigma-Aldrich shRNA for AAAS  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for AAAS
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015665
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015665
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_015665 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_015665

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

    8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aaas):

    behavior/neurologicalcellulardigestive/alimentaryendocrine/exocrine glandgrowth/size
    homeostasis/metabolismnervous systemreproductive system

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674 molecular_function ND--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    5/52 Interacting proteins for AAAS (ENSP000002098733) via UniProtKB, MINT, and/or STRING (see all 52 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IPO7ENSP000003690423STRING (score=.931)
    AGFG1ENSP000003120593STRING (score=.899)
    DDX19BENSP000002880713STRING (score=.899)
    EIF5AL1ENSP000003367023STRING (score=.899)
    GLE1ENSP000003086223STRING (score=.899)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046822 regulation of nucleocytoplasmic transport NAS12730363
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for AAAS
    1 Novoseek chemical compound relationship for AAAS gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth 57.79 3 18426811 (2), 18279781 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (AAAS)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AAAS)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015665

                  Sigma-Aldrich siRNA for AAAS  
                         Sigma-Aldrich shRNA for AAAS  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_015665  

    REFSEQ mRNAs for AAAS gene: 

    NM_015665.5   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_015665  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015665
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015665
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_015665 

    Additional cDNA sequence: 

    AF226048.1 AJ289857.1 AK000833.1 AK094302.1 AK222509.1 AK293342.1 AL110160.1 AY237818.1 
    BC000659.2 BC018836.2 BT006912.1 CR590678.1 CR591048.1 CR593907.1 CR595976.1 CR597176.1 
    CR597994.1 CR601072.1 CR601632.1 CR616332.1 CR619164.1 

    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 

    24/372 AceView cDNA sequences (see all 372 ):

    BE797091 BQ009784 CR597176 AL550148 BQ084010 BI829100 CB123646 BP366407 
    BI761621 BM552143 CR593907 BQ051486 BU631921 BU153912 CR597994 AI140344 
    CR601072 AW340290 BQ929947 BU579732 BQ879190 BM762954 BQ685495 BQ687774 

    highest scoring ESTs for AAAS:

    AF226048 AI763061 AI880283 AK000833 AL515777 AL525649 AL552409 AL559497 BC000659 BC018836 

    Unigene Cluster for AAAS:

    Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
    Hs.369144  [show with all ESTs]
    Unigene Representative Sequence: AK094302


    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for AAAS (see all 12 )

    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:                              

    About this scheme

    ECgene alternative splicing isoforms for AAAS

    2 Ensembl transcripts including schematic representations:
    ENST00000209873  ENST00000394384  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    AAAS expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for AAAS

    1 / 2 / 3

    3 probe-sets matching AAAS gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    65445_at2, 3 U95-C 2 1.00 0.97 1.00 1.00 AI763061 0.80 1.00 0.91 1

    218075_at2, 3 U133-A 1 1.00 1.00 -- -- NM_015665 0.60 1.00 0.82 1

    218075_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ACCTGCCCCT

    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, pituary gland, gatsrointestinal structures and fetal lung

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for AAAS gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AAAS1   -- achalasia, adrenocortical insufficiency, alacrimia more 87.96(n)
    93.65(a)
    607867  XM_844704.1  XP_849797.1 
    chimpanzee
    (Pan troglodytes)
    AAAS1   -- achalasia, adrenocortical insufficiency, alacrimia more 99.63(n)
    99.63(a)
    467003  XM_522403.2  XP_522403.2 
    cow
    (Bos taurus)
    AAAS1   -- achalasia, adrenocortical insufficiency, alacrimia more 90.95(n)
    96.15(a)
    506561  NM_001075269.1  NP_001068737.1 
    mouse
    (Mus musculus)
    Aaas1, 5 155
    achalasia, adrenocortical insufficiency, alacrimia1, 5 87.3(n)1
    93.41(a)1
    2239211  NM_153416.11  NP_700465.11 
     AK0345915  AK0516355  (see all 24)
    zebrafish
    (Danio rerio)
    aaas2   -- achalasia, adrenocortical insufficiency, alacrimia 74.03(n) 378454  AL911339.1 
    About this table        Species with no ortholog for AAAS

    ENSEMBL Gene Tree for AAAS
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/90 NCBI SNPs in AAAS are shown (see all 90 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 31)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs107476661,2
    A,C,F,H52003103(+) AGAGCA/GAGACC 1 -- ng31 tfbs32Minor allele frequency- G:0.43EU WA 216
    --
    rs115403491,2
    C,H52000707(-) AGGATC/TCCCTA 1 P/S mis1 ese38Minor allele frequency- T:0.00EU EA WA 812
    --
    rs47592131,2
    C52003267(-) tggctA/Ggtttt 1 -- ng310--------
    --
    rs115403521,2
    H52000655(-) CATCCA/GTCACC 1 H/R mis1 ese34Minor allele frequency- G:0.00EU EA WA 406
    rs15468081,2
    C,F,H51989288(-) TGGTTT/CCGAGG 1 F/F syn1 ese38Minor allele frequency- C:0.06MN EU EA WA NA 740
    rs115403531,2
    C,F51995177(-) GAAGAT/CCTGAT 1 D/D syn11Minor allele frequency- C:0.07NA 58
    rs47592811,2
    A,C,F,H51990122(-) TGGGCG/AGAGAG 1 -- int14Minor allele frequency- A:0.08EU EA WA 416
    rs47590211,2
    A,C,F,H52001135(-) GGATGC/TGGGAG 1 -- int14Minor allele frequency- T:0.10EU EA WA 418
    rs107835671,2
    A,C,F,H51991970(+) CCCCCT/CCCAAA 1 -- int14Minor allele frequency- C:0.07EU EA WA 408
    --
    rs108764261,2
    A,C,H51997530(+) GTGAAC/TTCGGG 1 -- int14Minor allele frequency- T:0.00EU EA WA 410
    About this table

    HapMap Linkage Disequilibrium images for AAAS (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 605378   disorders: 231550  

    UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9

  • Defects in AAAS are the cause of achalasia-addisonianism-alacrima syndrome (AAAS)
    [MIM:231550]; also known as triple-A syndrome or Allgrove syndrome. AAAS is 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
  • 4 Novoseek disease relationships for AAAS gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    alacrima 99.08 12 18628786 (2), 15680696 (1), 15690314 (1), 19172511 (1) (see all 9)
    allgrove syndrome 98.41 22 17880786 (3), 15516781 (2), 11062474 (1), 15217518 (1) (see all 15)
    achalasia 92.46 13 18628786 (1), 15680696 (1), 15690314 (1), 19172511 (1) (see all 10)
    neurological disorders 41.13 7 15680696 (1), 15690314 (1), 18662670 (1), 12429595 (1) (see all 5)
    About this table

    Human Gene Mutation Database: AAAS

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/70 PubMed articles for AAAS gene (see all 70 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 8086 HGNC: 13666 AceView: AAAS Ensembl:ENSG00000094914 euGenes: HUgn8086
    ECgene: AAAS H-InvDB: AAAS
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=AAAS
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for AAAS:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for AAAS Antibodies for AAAS
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for AAAS Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for AAAS

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