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UniProtKB - Q9NRG9 (AAAS_HUMAN)

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Protein

Aladin

Gene

AAAS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in the normal development of the peripheral and central nervous system.

GO - Biological processi

  • fertilization Source: Ensembl
  • learning Source: Ensembl
  • mRNA export from nucleus Source: Reactome
  • nucleocytoplasmic transport Source: MGI
  • regulation of nucleocytoplasmic transport Source: UniProtKB
  • viral process Source: Reactome
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processmRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
R-HSA-159227 Transport of the SLBP independent Mature mRNA
R-HSA-159230 Transport of the SLBP Dependant Mature mRNA
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054 Rev-mediated nuclear export of HIV RNA
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276 NS1 Mediated Effects on Host Pathways
R-HSA-168325 Viral Messenger RNA Synthesis
R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746 Nuclear import of Rev protein
R-HSA-180910 Vpr-mediated nuclear import of PICs
R-HSA-191859 snRNP Assembly
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-4615885 SUMOylation of DNA replication proteins
R-HSA-5578749 Transcriptional regulation by small RNAs
R-HSA-6784531 tRNA processing in the nucleus
SignaLinkiQ9NRG9

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Aladin
Alternative name(s):
Adracalin
Gene namesi
Name:AAAS
Synonyms:ADRACALA
ORF Names:GL003
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000094914.12
HGNCiHGNC:13666 AAAS
MIMi605378 gene
neXtProtiNX_Q9NRG9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nuclear pore complex, Nucleus

Pathology & Biotechi

Involvement in diseasei

Achalasia-addisonianism-alacrima syndrome (AAAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.
See also OMIM:231550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01280415Q → K in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918549EnsemblClinVar.1
Natural variantiVAR_08041484 – 546Missing in AAAS. 1 PublicationAdd BLAST463
Natural variantiVAR_012805160H → R in AAAS. 1 Publication1
Natural variantiVAR_012806263S → P in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918550EnsemblClinVar.1
Natural variantiVAR_080415286 – 546Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST261
Natural variantiVAR_080416342 – 546Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST205

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8086
MalaCardsiAAAS
MIMi231550 phenotype
OpenTargetsiENSG00000094914
Orphaneti869 Triple A syndrome
PharmGKBiPA24361

Polymorphism and mutation databases

BioMutaiAAAS
DMDMi20137527

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000508282 – 546AladinAdd BLAST545

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylcysteineCombined sources1
Modified residuei33PhosphoserineCombined sources1
Modified residuei495PhosphoserineCombined sources1
Modified residuei511PhosphoserineCombined sources1
Modified residuei522PhosphoserineBy similarity1
Modified residuei525PhosphoserineBy similarity1
Modified residuei541PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NRG9
MaxQBiQ9NRG9
PaxDbiQ9NRG9
PeptideAtlasiQ9NRG9
PRIDEiQ9NRG9
ProteomicsDBi82359
82360 [Q9NRG9-2]

PTM databases

iPTMnetiQ9NRG9
PhosphoSitePlusiQ9NRG9

Expressioni

Tissue specificityi

Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947).2 Publications

Gene expression databases

BgeeiENSG00000094914
CleanExiHS_AAAS
ExpressionAtlasiQ9NRG9 baseline and differential
GenevisibleiQ9NRG9 HS

Organism-specific databases

HPAiHPA040086

Interactioni

Subunit structurei

Interacts with NDC1, the interaction is required for nuclear pore localization.1 Publication

Protein-protein interaction databases

BioGridi113759, 33 interactors
CORUMiQ9NRG9
IntActiQ9NRG9, 20 interactors
STRINGi9606.ENSP00000209873

Structurei

3D structure databases

ProteinModelPortaliQ9NRG9
SMRiQ9NRG9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati142 – 180WD 1Add BLAST39
Repeati183 – 222WD 2Add BLAST40
Repeati234 – 274WD 3Add BLAST41
Repeati280 – 316WD 4Add BLAST37
Repeati324 – 380WD 5Add BLAST57
Repeati386 – 433WD 6Add BLAST48
Repeati442 – 482WD 7Add BLAST41

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi544 – 546Microbody targeting signalSequence analysis3

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2139 Eukaryota
ENOG410XNTD LUCA
GeneTreeiENSGT00390000009446
HOGENOMiHOG000033741
HOVERGENiHBG026353
InParanoidiQ9NRG9
KOiK14320
OMAiDHSETLW
OrthoDBiEOG091G0IZP
PhylomeDBiQ9NRG9
TreeFamiTF324412

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 4 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NRG9-1) [UniParc]FASTAAdd to basket
Also known as: AAAS-v1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL 
        60         70         80         90        100
TKDPLKTPGR LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE 
       110        120        130        140        150
EEVFEWVKTA SGWALALCRW ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS 
       160        170        180        190        200
SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA SSTIVPSLKH RLQRNVASLA 
       210        220        230        240        250
WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS HPGHTPVTSL 
       260        270        280        290        300
AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS 
       310        320        330        340        350
KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE 
       360        370        380        390        400
PLIYSLSFPE RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH 
       410        420        430        440        450
SMVWDPSGER LAVLMKGKPR VQDGKPVILL FRTRNSPVFE LLPCGIIQGE 
       460        470        480        490        500
PGAQPQLITF HPSFNKGALL SVGWSTGRIA HIPLYFVNAQ FPRFSPVLGR 
       510        520        530        540 
AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH SPHSHL
Length:546
Mass (Da):59,574
Last modified:October 1, 2000 - v1
Checksum:iE0F4E7145D8C192E
GO
Isoform 2 (identifier: Q9NRG9-2) [UniParc]FASTAAdd to basket
Also known as: AAAS-v2

The sequence of this isoform differs from the canonical sequence as follows:
     149-182: WSSCCLRVFAWHPHTNKFAVALLDDSVRVYNASS → C

Note: Ubiquitously expressed.
Show »
Length:513
Mass (Da):55,814
Checksum:i282F804D7F10A2C6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti122S → P in BAA91394 (PubMed:14702039).Curated1
Sequence conflicti135R → K in BAA91394 (PubMed:14702039).Curated1
Sequence conflicti479I → V in BAA91394 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01280415Q → K in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918549EnsemblClinVar.1
Natural variantiVAR_08041484 – 546Missing in AAAS. 1 PublicationAdd BLAST463
Natural variantiVAR_037060108K → M. Corresponds to variant dbSNP:rs13330Ensembl.1
Natural variantiVAR_012805160H → R in AAAS. 1 Publication1
Natural variantiVAR_012806263S → P in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918550EnsemblClinVar.1
Natural variantiVAR_080415286 – 546Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST261
Natural variantiVAR_080416342 – 546Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST205

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043014149 – 182WSSCC…YNASS → C in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ289857 mRNA Translation: CAC19017.1
AJ289841
, AJ289842, AJ289843, AJ289844, AJ289845, AJ289846, AJ289847, AJ289848, AJ289849, AJ289850, AJ289851, AJ289852, AJ289853, AJ289854, AJ289855, AJ289856 Genomic DNA Translation: CAC19038.1
AJ297977 Genomic DNA Translation: CAC17465.1
AY237818 mRNA Translation: AAP69911.1
AF226048 mRNA Translation: AAF86948.1
AK000833 mRNA Translation: BAA91394.1
BT006912 mRNA Translation: AAP35558.1
AC073611 Genomic DNA No translation available.
BC000659 mRNA Translation: AAH00659.1
AL110160 mRNA Translation: CAB53665.2
CCDSiCCDS53797.1 [Q9NRG9-2]
CCDS8856.1 [Q9NRG9-1]
RefSeqiNP_001166937.1, NM_001173466.1 [Q9NRG9-2]
NP_056480.1, NM_015665.5 [Q9NRG9-1]
UniGeneiHs.369144

Genome annotation databases

EnsembliENST00000209873; ENSP00000209873; ENSG00000094914 [Q9NRG9-1]
ENST00000394384; ENSP00000377908; ENSG00000094914 [Q9NRG9-2]
GeneIDi8086
KEGGihsa:8086
UCSCiuc001scr.5 human [Q9NRG9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiAAAS_HUMAN
AccessioniPrimary (citable) accession number: Q9NRG9
Secondary accession number(s): Q5JB47, Q9NWI6, Q9UG19
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 171 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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