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Protein

Aladin

Gene

AAAS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

mRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000094914-MONOMER.
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-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 nuclear pore complex (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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:13666. AAAS.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: HPA
  • cytoplasm Source: HPA
  • membrane Source: UniProtKB
  • nuclear envelope Source: Reactome
  • nuclear membrane Source: HPA
  • nuclear pore Source: MGI
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

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 rs121918549dbSNPEnsembl.1
Natural variantiVAR_012805160H → R in AAAS. 1 Publication1
Natural variantiVAR_012806263S → P in AAAS. 1 PublicationCorresponds to variant rs121918550dbSNPEnsembl.1

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.

PTM databases

iPTMnetiQ9NRG9.
PhosphoSitePlusiQ9NRG9.

Expressioni

Tissue specificityi

Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung.1 Publication

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. 25 interactors.
IntActiQ9NRG9. 18 interactors.
MINTiMINT-3073010.
STRINGi9606.ENSP00000209873.

Structurei

3D structure databases

ProteinModelPortaliQ9NRG9.
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

Sequence similaritiesi

Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

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 rs121918549dbSNPEnsembl.1
Natural variantiVAR_037060108K → M.Corresponds to variant rs13330dbSNPEnsembl.1
Natural variantiVAR_012805160H → R in AAAS. 1 Publication1
Natural variantiVAR_012806263S → P in AAAS. 1 PublicationCorresponds to variant rs121918550dbSNPEnsembl.1

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NRG9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113759. 25 interactors.
IntActiQ9NRG9. 18 interactors.
MINTiMINT-3073010.
STRINGi9606.ENSP00000209873.

Protein family/group databases

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

PTM databases

iPTMnetiQ9NRG9.
PhosphoSitePlusiQ9NRG9.

Polymorphism and mutation databases

BioMutaiAAAS.
DMDMi20137527.

Proteomic databases

EPDiQ9NRG9.
MaxQBiQ9NRG9.
PaxDbiQ9NRG9.
PeptideAtlasiQ9NRG9.
PRIDEiQ9NRG9.

Protocols and materials databases

DNASUi8086.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8086.
DisGeNETi8086.
GeneCardsiAAAS.
HGNCiHGNC:13666. AAAS.
HPAiHPA040086.
MalaCardsiAAAS.
MIMi231550. phenotype.
605378. gene.
neXtProtiNX_Q9NRG9.
OpenTargetsiENSG00000094914.
Orphaneti869. Triple A syndrome.
PharmGKBiPA24361.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000094914-MONOMER.
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-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.

Miscellaneous databases

ChiTaRSiAAAS. human.
GeneWikiiAAAS_(gene).
GenomeRNAii8086.
PROiQ9NRG9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000094914.
CleanExiHS_AAAS.
ExpressionAtlasiQ9NRG9. baseline and differential.
GenevisibleiQ9NRG9. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAAAS_HUMAN
AccessioniPrimary (citable) accession number: Q9NRG9
Secondary accession number(s): Q5JB47, Q9NWI6, Q9UG19
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 159 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.