Aladin - Homo sapiens (Human)

Names and origin

Protein names

Recommended name:
Aladin
Alternative name(s):
Adracalin

Gene names

Name:	AAAS
Synonyms:	ADRACALA
ORF Names:	GL003

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	546 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Plays a role in the normal development of the peripheral and central nervous system.
Tissue specificity	Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituary gland, gatsrointestinal structures and fetal lung.
Involvement in disease	Defects in AAAS are the cause of achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]; also known as triple-A syndrome or Allgrove syndrome. AAAS is an 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. Ref.2
Sequence similarities	Contains 4 WD repeats.

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Ontologies

Keywords
Disease	Disease mutation
Domain	Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	nucleocytoplasmic transport Inferred from direct assay. Source: MGI regulation of nucleocytoplasmic transport Non-traceable author statement. Source: UniProtKB
Cellular component	nuclear pore Inferred from direct assay. Source: MGI
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 546

546

Aladin

PRO_0000050828

Regions

Repeat

149 – 188

40

WD 1

Repeat

191 – 230

40

WD 2

Repeat

243 – 282

40

WD 3

Repeat

285 – 324

40

WD 4

Motif

544 – 546

3

Microbody targeting signal Potential

Amino acid modifications

Modified residue

33

1

Phosphoserine Ref.10

Modified residue

495

1

Phosphoserine Ref.10 Ref.8 Ref.9 Ref.12 Ref.13

Natural variations

Natural variant

15

1

Q → K in AAAS. Ref.2

VAR_012804

Natural variant

108

1

K → M: dbSNP rs13330.

VAR_037060

Natural variant

160

1

H → R in AAAS. Ref.2

VAR_012805

Natural variant

263

1

S → P in AAAS. Ref.2

VAR_012806

Experimental info

Sequence conflict

122

1

S → P in BAA91394. Ref.4

Sequence conflict

135

1

R → K in BAA91394. Ref.4

Sequence conflict

479

1

I → V in BAA91394. Ref.4

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Sequences

Sequence

Length

Mass (Da)

Tools

Q9NRG9-1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: E0F4E7145D8C192E
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FASTA

546

59,574

        10         20         30         40         50         60 
MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR 

        70         80         90        100        110        120 
LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW 

       130        140        150        160        170        180 
ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA 

       190        200        210        220        230        240 
SSTIVPSLKH RLQRNVASLA WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS 

       250        260        270        280        290        300 
HPGHTPVTSL AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS 

       310        320        330        340        350        360 
KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE PLIYSLSFPE 

       370        380        390        400        410        420 
RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH SMVWDPSGER LAVLMKGKPR 

       430        440        450        460        470        480 
VQDGKPVILL FRTRNSPVFE LLPCGIIQGE PGAQPQLITF HPSFNKGALL SVGWSTGRIA 

       490        500        510        520        530        540 
HIPLYFVNAQ FPRFSPVLGR AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH 


SPHSHL

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutant WD-repeat protein in triple-A syndrome." Tullio-Pelet A., Salomon R., Hadj-Rabia S., Mugnier C., de Laet M.-H., Chaouachi B., Bakiri F., Brottier P., Cattolico L., Penet C., Begeot M., Naville D., Nicolino M., Chaussain J.-L., Weissenbach J., Munnich A., Lyonnet S. Nat. Genet. 26:332-335(2000) [PubMed: 11062474] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]	"Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene." Handschug K., Sperling S., Yoon S.-J.K., Hennig S., Clark A.J.L., Huebner A. Hum. Mol. Genet. 10:283-290(2001) [PubMed: 11159947] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS AAAS LYS-15; ARG-160 AND PRO-263.
[3]	"A novel gene expressed in human liver non-tumor tissues." Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Adipose tissue.
[5]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.
[7]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 210-546. Tissue: Uterus.
[8]	"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-495, MASS SPECTROMETRY.
[9]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-495, MASS SPECTROMETRY.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-33 AND SER-495, MASS SPECTROMETRY.
[11]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[12]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-495, MASS SPECTROMETRY.
[13]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-495, MASS SPECTROMETRY. Tissue: T-cell.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ289857 mRNA. Translation: CAC19017.1. AJ289841 AJ289856 Genomic DNA. Translation: CAC19038.1. AJ297977 Genomic DNA. Translation: CAC17465.1. AF226048 mRNA. Translation: AAF86948.1. AK000833 mRNA. Translation: BAA91394.1. BT006912 mRNA. Translation: AAP35558.1. BC000659 mRNA. Translation: AAH00659.1. AL110160 mRNA. Translation: CAB53665.2.
IPI	IPI00024143.
RefSeq	NP_056480.1.
UniGene	Hs.369144
3D structure databases
SMR	Q9NRG9. Positions 157-343, 236-357.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NRG9.
PTM databases
PhosphoSite	Q9NRG9.
Proteomic databases
PRIDE	Q9NRG9.
Genome annotation databases
Ensembl	ENST00000209873; ENSP00000209873; ENSG00000094914; Homo sapiens. [Genome view]
GeneID	8086.
KEGG	hsa:8086.
UCSC	uc001scr.2. human.
Organism-specific databases
CTD	8086.
GeneCards	GC12M051987.
H-InvDB	HIX0021039.
HGNC	HGNC:13666. AAAS.
MIM	231550. phenotype. 605378. gene.
Orphanet	99777. Achalasia-alacrimia syndrome. 869. Triple A syndrome.
PharmGKB	PA24361.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG447101.
HOVERGEN	Q9NRG9.
InParanoid	Q9NRG9.
OMA	LSGRCQT.
OrthoDB	EOG9TXFC8.
PhylomeDB	Q9NRG9.
Enzyme and pathway databases
Reactome	REACT_6185. HIV Infection.
Gene expression databases
ArrayExpress	Q9NRG9.
Bgee	Q9NRG9.
CleanEx	HS_AAAS.
Genevestigator	Q9NRG9.
GermOnline	ENSG00000094914. Homo sapiens.
Family and domain databases
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR019782. WD40_repeat_2. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. IPR019781. WD40_repeat_sg. [Graphical view]
Gene3D	G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
Pfam	PF00400. WD40. 1 hit. [Graphical view]
SMART	SM00320. WD40. 4 hits. [Graphical view]
PROSITE	PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	30710.
SOURCE	Search...

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Entry information

Entry name

AAAS_HUMAN

Accession

Primary (citable) accession number: Q9NRG9
Secondary accession number(s): Q9NWI6, Q9UG19

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 27, 2002
Last sequence update:	October 1, 2000
Last modified:	January 19, 2010
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.

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Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents