AAAS aladin WD repeat nucleoporin [Homo sapiens (human)] - Gene

Summary

Official Symbol: AAASprovided by HGNC
Official Full Name: aladin WD repeat nucleoporinprovided by HGNC
Primary source: HGNC:HGNC:13666
See related: Ensembl:ENSG00000094914 MIM:605378; AllianceGenome:HGNC:13666
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 20.2), adrenal (RPKM 16.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53307460..53321610, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53273162..53287327, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53701244..53715394, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Title: Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Title: Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
A homozygous deletion of the entire AAAS gene was identified in a patient with triple A syndrome.
Title: Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.
AAAS mutations were identified in two families with hereditary spastic paraplegia.
Title: Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Mutation in AAAS gene is associated with triple A syndrome.
Title: Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described.
Title: Clinical and genetic characterisation of a series of patients with triple A syndrome.
Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser) in a French cohort of Triple A syndrome patients.
Title: Triple-A syndrome: a wide spectrum of adrenal dysfunction.
This study demonstrated that a single splicing mutation affects the AAAS transcripts and consequently the ALADIN protein structure and function.
Title: Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
Title: Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
down-regulating ALADIN results in decreased oxidative stress response leading to alteration in steroidogenesis, highlighting our knock-down cell model as an important in-vitro tool for studying the adrenal phenotype in triple A syndrome
Title: Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glucocorticoid deficiency with achalasia MedGen: C0271742 OMIM: 231550 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1190E (e-PCR)
- UniSTS:46161

D12S1220E (e-PCR)
- UniSTS:151470

A008D12 (e-PCR)
- UniSTS:39861

RH15738 (e-PCR)
- UniSTS:44244

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fertilization	IEA Inferred from Electronic Annotation more info
involved_in glutathione metabolic process	IEA Inferred from Electronic Annotation more info
involved_in learning	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in microtubule bundle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in nucleocytoplasmic transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nucleocytoplasmic transport	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
part_of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear pore	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: aladin

Names: Allgrove, triple-A; achalasia, adrenocortical insufficiency, alacrimia

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016775.1 RefSeqGene

Range

5019..19169

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001173466.2 → NP_001166937.1 aladin isoform 2

See identical proteins and their annotated locations for NP_001166937.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AJ289857, AY237818, BC000659, DC393722

Consensus CDS

CCDS53797.1

UniProtKB/TrEMBL

B4DDU7

Related

ENSP00000377908.3, ENST00000394384.7

Conserved Domains (3) summary

COG2319
Location:132 → 380

WD40; WD40 repeat [General function prediction only]

sd00039
Location:163 → 208

7WD40; WD40 repeat [structural motif]

cl02567
Location:163 → 310

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_015665.6 → NP_056480.1 aladin isoform 1

See identical proteins and their annotated locations for NP_056480.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AJ289857, DC393722

Consensus CDS

CCDS8856.1

UniProtKB/Swiss-Prot

Q5JB47, Q9NRG9, Q9NWI6, Q9UG19

UniProtKB/TrEMBL

Q53HS1

Related

ENSP00000209873.4, ENST00000209873.9

Conserved Domains (2) summary

sd00039
Location:157 → 193

7WD40; WD40 repeat [structural motif]

cl25539
Location:133 → 343

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...