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Aaas
Gene Detail
Symbol

Name
ID
Aaas
achalasia, adrenocortical insufficiency, alacrimia
MGI:2443767
Synonyms
Aladin, D030041N15Rik, GL003
Feature Type
protein coding gene
Genetic Map
Chromosome 15
57.49 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr15:102338247-102350759 bp, - strand
From NCBI annotation of GRCm38

  12513 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9232  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: AAAS
Gene Tree: Aaas

Human
homologs
AAAS, achalasia, adrenocortical insufficiency, alacrimia
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 8086
neXtProt AC: NX_Q9NRG9

Human Synonyms: AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003

Human Chr (Location): 12q13; chr12:53307456-53321628 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human AAAS

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(10) Radiation induced(1) Targeted(3)
Genomic Mutations involving Aaas (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice display female infertility, mildly decreased exploratory behavior, and decreased body weight, but have normal adrenocortical function and do not develop severe neurological abnormalities.
 
Phenotype Images(2)
Interactions
Aaas interacts with 10 markers (Mir133a-1, Mir133a-2, Mir140, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process fertilization, learning, ...
Component centrosome, cytoplasm, ...
Function molecular_function
External Resources: FuncBase
Expression
cDNA source data(104)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase aaas    NEW 
Molecular
reagents
All nucleic(104) cDNA(104)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000036678 (Evidence)
Entrez Gene 223921 (Evidence)
UniGene 352946
DFCI TC1751716, TC1611865, TC1574108, TC1590781
DoTS DT.101129294, DT.40177665, DT.91290436, DT.94215595, DT.97397833
NIA Mouse Gene Index U036695
Consensus CDS Project CCDS27880.1
International Mouse Phenotyping Consortium Status Aaas
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 223921 NCBI Gene Model | MGI Sequence Detail 12513 C57BL/6J ±  kb
transcript NM_153416 RefSeq | MGI Sequence Detail 1816 C57BL/6 
polypeptide P58742 UniProt | EBI | MGI Sequence Detail 546 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(2) UniProt(4)
Polymorphisms
SNPs within 2kb(78 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011042 Six-bladed beta-propeller, TolB-like
InterPro IPR001680 WD40 repeat
InterPro IPR019775 WD40 repeat, conserved site
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000003518 aladin
Graphical View of Protein Domain Structure
References
(Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:142754 Hansen GM, et al., Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Genome Res. 2008 Oct;18(10):1670-9
All references(30)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory