Species

Homo sapiens

Symbol

AAAS

Name

aladin WD repeat nucleoporin

Synonyms

AAA
AAASb

Biotype

protein coding gene

Automated Description

Involved in microtubule bundle formation and mitotic spindle assembly. Acts upstream of or within nucleocytoplasmic transport. Located in cytosol; microtubule cytoskeleton; and nucleus. Part of nuclear pore. Implicated in achalasia and triple-A syndrome.

RGD Description

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR14494

Stringency:StringentModerateNo filter

Additional filters to further constrain the results:

Best Score OnlyBest Reverse Score Only

Count:Species:Methods:

Species	Gene symbol	Count	Best	Best reverse	Method Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculus	Aaas	10 of 10	Yes	Yes	☑☑☑☑☑☑☑☑☑☑
Rattus norvegicus	Aaas	10 of 10	Yes	Yes	☑☑☑☑☑☑☑☑☑☑
Xenopus laevis	aaas.L	1 of 1	Yes	Yes	☑
Xenopus tropicalis	aaas	9 of 9	Yes	Yes	☑ ☑☑☑☑☑☑☑☑
Danio rerio	aaas	10 of 10	Yes	Yes	☑ ☑☑☑☑☑☑☑☑ ☑
Drosophila melanogaster	Aladin	6 of 9	Yes	Yes	☑ ☐☑☑☑☑☑☐☐
Drosophila melanogaster	CG13137	4 of 9	No	Yes	☑ ☐☐☐☑☐☑☑☐

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

No paralogs for the gene.

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

Phenotype Term

Annotation details

References

Abnormal autonomic nervous system physiology

View

MIM:231550

Abnormal calf musculature morphology

View

ORPHA:869

Abnormality of the hypothenar eminence

View

ORPHA:869

Abnormality of visual evoked potentials

View

MIM:231550

Achalasia

View

Adrenal insufficiency

View

Adrenocorticotropin receptor defect

View

MIM:231550

Alacrima

View

MIM:231550

Anisocoria

View

MIM:231550

Anterior hypopituitarism

View

ORPHA:869

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Disease Associations

Must provide at least one subject

Cell color indicative of annotation volume

Species	Gene	Association	Disease Qualifier	Disease	Evidence	Source	Based On	References
No records match query. Try removing filters.

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Alleles and Variants

Genome location

Chr12:53307456...53324864 - (17.41 kb)

Assembly version

GRCh38

Viewer Help

Data currently unavailable; sequence viewer under construction

Allele/Variant Symbol	Category	Variant
NC_000012.12:g.53308087G>A	variant	rs144376552 SNP synonymous variant
NC_000012.12:g.53315407C>A	variant	rs190876509 SNP synonymous variant
NC_000012.12:g.53314861G>T	variant	rs771122055 SNP intron variant
NC_000012.12:g.53315093C>T	variant	rs2136811371 SNP splice donor variant
NC_000012.12:g.53315126A>G	variant	rs11540353 SNP synonymous variant
NC_000012.12:g.53309198G>A	variant	rs199636211 SNP synonymous variant
NC_000012.12:g.53309210G>A	variant	rs552736260 SNP synonymous variant
NC_000012.12:g.53309686G>A	variant	rs757496840 SNP missense variant
NC_000012.12:g.53307697C>G	variant	rs781738941 SNP missense variant
NC_000012.12:g.53309014C>G	variant	rs1057521973 SNP missense variant

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View detailed Alleles/Variants information

Download all Alleles/Variants for all genes of the species

Transgenic Alleles

No data available

Models

No data available

Sequence Feature Viewer

Genome location

Chr12:53307456...53324864 - (17.41 kb)

Assembly version

GRCh38

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Must provide at least one subject

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

175 interactor genes based on 194 annotations

AAAS molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
protein	ABHD14A	Homo sapiens	protein	affinity chromatography technology	biogrid:3159295	PMID:33961781
protein	AKAP1	Homo sapiens	protein	proximity labelling technology	biogrid:2978405	PMID:34079125
protein	ALK	Homo sapiens	protein	proximity labelling technology	biogrid:3505127	PMID:35384245
protein	ANLN	Homo sapiens	protein	affinity chromatography technology	biogrid:2824861	PMID:31586073
protein	AR	Homo sapiens	protein	affinity chromatography technology	biogrid:2972825	PMID:32814769
protein	ATG9A	Homo sapiens	protein	proximity labelling technology	biogrid:3380507	PMID:34369648
protein	BCAP31	Homo sapiens	protein	proximity labelling technology	biogrid:2981006	PMID:34079125
protein	BIRC3	Homo sapiens	protein	affinity chromatography technology	biogrid:2653161	PMID:30948266
protein	BRCA1	Homo sapiens	protein	affinity chromatography technology	biogrid:2383649	PMID:26831064
protein	C9orf72	Homo sapiens	protein	affinity chromatography technology	biogrid:3733871	PMID:37317656

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Genetic Interactions

AAAS role	AAAS genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
unspecified role		ELOF1	Homo sapiens	unspecified role		negative genetic interaction (sensu BioGRID)	Growth abnormality, viability	biogrid:3626628	PMID:34108663
unspecified role		FASN	Homo sapiens	unspecified role		positive genetic interaction (sensu BioGRID)	Growth abnormality viability	biogrid:2865459	PMID:32694731

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