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

Mammalian homology

human; rat; cattle; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Aaas ± 2 cM)

Gene Tree: Aaas

Human ortholog

AAAS achalasia, adrenocortical insufficiency, alacrimia NCBI Gene ID 8086
Human Synonyms: AAA, AAASb, ADRACALA, ADRACALIN, ALADIN
Human Chr12:53701240-53715412 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human AAAS (1)

Alleles and phenotypes

All alleles(12) : Targeted(2) Gene trapped(10)
 

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: (5 annotations)

Process	fertilization, learning, ...
Component	nuclear pore
Function	molecular_function

External Resources: FuncBase

Expression

cDNA source data(105)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(105) cDNA(105)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000036678 (Evidence)
Entrez Gene	223921 (Evidence)
UniGene	352946
DFCI	TC1574108, TC1590781, TC1611865, TC1751716
DoTS	DT.101129294, DT.40177665, DT.91290436, DT.94215595, DT.97397833
NIA Mouse Gene Index	U036695
Consensus CDS Project	CCDS27880.1
International Mouse Knockout Project Status	Aaas

Sequences

Length	Strain/Species
genomic	223921	NCBI Gene Model | MGI Sequence Detail	12513	C57BL/6J
transcript	NM_153416	RefSeq | MGI Sequence Detail	1816	C57BL/6
polypeptide	P58742	UniProt | EBI | MGI Sequence Detail	546	Not Applicable

All sequences(41) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(54 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(29)