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Aliases & Descriptions for AAAS
(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 |
|
| | Search outside databases for aliases for AAAS genePrevious GC identifers: GC12P053994 GC12P053789 GC12M053417 |
Summaries for AAAS(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9Function: Plays a role in the normal development of the peripheral and central nervous systemGene Wiki entry for AAAS |
Genomic Location 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) About This Section
| 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: 12q13AAAS 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
| Proteins for AAAS
(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)
About This Section
| UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9 (See
protein sequence)Recommended Name: Aladin Size: 546 amino acids; 59574 Da
Secondary accessions: Q9NWI6 Q9UG19Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_056480.1
ENSEMBL proteins: ENSP00000209873 ENSP00000377908
Human Recombinant Proteins 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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005643 | colocalizes with nuclear pore |
IDA | 12730363 | About this table
Antibodies for AAAS: Assays for AAAS: | Protein
Domains/ Families for AAAS(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9NRG9
ProtoNet protein and cluster: Q9NRG9 UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9Similarity: Contains 4 WD repeats | Gene Function for AAAS
(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
|               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 
              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, Q9NRG9Function: Plays a role in the normal development of the peripheral and central nervous system8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Aaas):
1 Gene Ontology (GO) molecular function term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | About this table | Pathways & Interactions for AAAS
(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
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0046822 | regulation of nucleocytoplasmic transport |
NAS | 12730363 | About this table
|
Drugs & Compounds for AAAS(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 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
|
Transcripts for AAAS(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
|               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
|
Expression for AAAS
(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 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, Q9NRG9Tissue specificity: Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituary gland, gatsrointestinal structures and fetal lung |
Orthologs for AAAS
(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 for AAAS(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for AAAS(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for AAAS (up to first 250kb)
|
Disorders & Mutations for AAAS
(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 present4 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
|
Medical News for AAAS(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for AAAS (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
):- Mutant WD-repeat protein in triple-A syndrome. (PubMed id 11062474)1, 2, 3, 4 Tullio-Pelet A.... Lyonnet S. (2000)
- Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. (PubMed id 11159947)1, 3, 4 Handschug K....Huebner A. (2001)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. (PubMed id 15666842)1, 3 Huebner A....Koehler K. (2004)
- 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, 3 Sandrini F....Stratakis C.A. (2001)
- Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation. (PubMed id 15680696)1, 3 Storr H.L....Michael G.J. (2005)
- Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. (PubMed id 16098009)1, 3 Brooks B.P....Stratakis C. (2005)
- Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. (PubMed id 19172511)1, 3 Villanueva-Mendoza C....Zenteno J.C. (2009)
- Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation. (PubMed id 16609705)1, 3 Krumbholz M....Huebner A. (2006)
|
Search for AAAS
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AAAS
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AAAS
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AAAS(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=AAAS |
|
| | | About This Section
| --
| Services for AAAS(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:

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Incremental update: 13 Oct 2009
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