AAAS (aladin WD repeat nucleoporin)

2010-03-01  

Identity

HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
AAA,AAASb,ADRACALA,ADRACALIN,ALADIN,GL003
FUSION GENES

Other Information

Locus ID:

NCBI: 8086
MIM: 605378
HGNC: 13666
Ensembl: ENSG00000094914

Variants:

dbSNP: 8086
ClinVar: 8086
TCGA: ENSG00000094914
COSMIC: AAAS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000094914ENST00000209873Q9NRG9
ENSG00000094914ENST00000394384Q9NRG9
ENSG00000094914ENST00000547757F8VUB6
ENSG00000094914ENST00000548931H3BU82
ENSG00000094914ENST00000550286F8VZ44

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Nuclear pore complexKEGGhsa_M00427
Nuclear pore complexKEGGM00427
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Rev-mediated nuclear export of HIV RNAREACTOMER-HSA-165054
Host Interactions of HIV factorsREACTOMER-HSA-162909
Interactions of Vpr with host cellular proteinsREACTOMER-HSA-176033
Vpr-mediated nuclear import of PICsREACTOMER-HSA-180910
Interactions of Rev with host cellular proteinsREACTOMER-HSA-177243
Nuclear import of Rev proteinREACTOMER-HSA-180746
Influenza InfectionREACTOMER-HSA-168254
Influenza Life CycleREACTOMER-HSA-168255
Transport of Ribonucleoproteins into the Host NucleusREACTOMER-HSA-168271
Influenza Viral RNA Transcription and ReplicationREACTOMER-HSA-168273
Viral Messenger RNA SynthesisREACTOMER-HSA-168325
Export of Viral Ribonucleoproteins from NucleusREACTOMER-HSA-168274
NEP/NS2 Interacts with the Cellular Export MachineryREACTOMER-HSA-168333
Host Interactions with Influenza FactorsREACTOMER-HSA-168253
NS1 Mediated Effects on Host PathwaysREACTOMER-HSA-168276
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Antiviral mechanism by IFN-stimulated genesREACTOMER-HSA-1169410
ISG15 antiviral mechanismREACTOMER-HSA-1169408
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236
Transport of Mature mRNAs Derived from Intronless TranscriptsREACTOMER-HSA-159234
Transport of the SLBP Dependant Mature mRNAREACTOMER-HSA-159230
Transport of the SLBP independent Mature mRNAREACTOMER-HSA-159227
Transport of Mature mRNA Derived from an Intronless TranscriptREACTOMER-HSA-159231
Gene Silencing by RNAREACTOMER-HSA-211000
Transcriptional regulation by small RNAsREACTOMER-HSA-5578749
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Nuclear Pore Complex (NPC) DisassemblyREACTOMER-HSA-3301854
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Hexose transportREACTOMER-HSA-189200
Glucose transportREACTOMER-HSA-70153
Regulation of Glucokinase by Glucokinase Regulatory ProteinREACTOMER-HSA-170822
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Cellular responses to stressREACTOMER-HSA-2262752
Cellular response to heat stressREACTOMER-HSA-3371556
Regulation of HSF1-mediated heat shock responseREACTOMER-HSA-3371453
tRNA processingREACTOMER-HSA-72306
tRNA processing in the nucleusREACTOMER-HSA-6784531
SUMOylation of RNA binding proteinsREACTOMER-HSA-4570464
SUMOylation of DNA replication proteinsREACTOMER-HSA-4615885

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
127303632003The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.39
160980092005Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.16
198550932009Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.16
156668422004The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.13
238251302013Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.13
258670242015Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.13
166097052006Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.11
197820452009The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope.11
204990902010Triple A syndrome: 32 years experience of a single centre (1977-2008).11
152175182004Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.10

Citation

Dessen P

AAAS (aladin WD repeat nucleoporin)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51360/aaas