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

Gene ID: 8086, updated on 20-Dec-2019

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
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

Genomic context

See AAAS in Genome Data Viewer
Location:
12q13.13
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (53307456..53321610, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53701240..53715412, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268097 Neighboring gene Sharpr-MPRA regulatory region 12 Neighboring gene prefoldin subunit 5 Neighboring gene MYG1 exonuclease Neighboring gene Sp7 transcription factor Neighboring gene Sharpr-MPRA regulatory region 10893

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586G1624

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
fertilization IEA
Inferred from Electronic Annotation
more info
 
intracellular transport of virus TAS
Traceable Author Statement
more info
 
learning IEA
Inferred from Electronic Annotation
more info
 
mRNA export from nucleus TAS
Traceable Author Statement
more info
 
microtubule bundle formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleocytoplasmic transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleocytoplasmic transport IDA
Inferred from Direct Assay
more info
PubMed 
protein sumoylation TAS
Traceable Author Statement
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of gene silencing by miRNA TAS
Traceable Author Statement
more info
 
regulation of glycolytic process TAS
Traceable Author Statement
more info
 
regulation of nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
PubMed 
tRNA export from nucleus TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
 
viral transcription TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
host cell IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear pore IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
aladin
Names
Allgrove, triple-A
achalasia, adrenocortical insufficiency, alacrimia

NCBI Reference Sequences (RefSeq)

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

  1. NG_016775.1 RefSeqGene

    Range
    5019..19169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173466.2NP_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/Swiss-Prot
    Q9NRG9
    Related
    ENSP00000377908.3, ENST00000394384.7
    Conserved Domains (3) summary
    COG2319
    Location:132380
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:163208
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:163310
    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 ...
  2. NM_015665.6NP_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
    Q9NRG9
    Related
    ENSP00000209873.4, ENST00000209873.9
    Conserved Domains (2) summary
    sd00039
    Location:157193
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:133343
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    53307456..53321610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538780.2XP_011537082.1  aladin isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:132380
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:163208
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:163310
    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 ...
  2. XM_011538778.2XP_011537080.1  aladin isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:154413
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:157193
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:133343
    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 ...

RNA

  1. XR_001748875.2 RNA Sequence

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