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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 zebrafish

Gene Tree: Aaas

Human
homologs
Human Homolog AAAS, achalasia, adrenocortical insufficiency, alacrimia
NCBI Gene ID 8086
neXtProt AC  NX_Q9NRG9
Human Synonyms  AAA, AAASb, ADRACALA, ADRACALIN, ALADIN
Human Chr (Location)  12q13; chr12:53307456-53321628 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human AAAS
Alleles
and
phenotypes
All alleles(13) : Gene trapped(10) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process fertilization, learning, ...
Component centrosome, cytoplasm, ...
Function molecular_function
External Resources: FuncBase
Expression
cDNA source data(104)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(104) cDNA(104)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000036678 (Evidence)
Entrez Gene223921 (Evidence)
UniGene352946
DFCITC1574108, TC1590781, TC1611865, TC1751716
DoTSDT.101129294, DT.40177665, DT.91290436, DT.94215595, DT.97397833
NIA Mouse Gene IndexU036695
Consensus CDS ProjectCCDS27880.1
International Mouse Knockout Project StatusAaas
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(32)

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
07/15/2014
MGI 5.18
The Jackson Laboratory