Q9NRG9 (AAAS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

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

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, pituitary gland, gastrointestinal structures and fetal lung. Ref.3
Involvement in disease	Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2
Sequence similarities	Contains 4 WD repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement. Source: Reactome cytokine-mediated signaling pathway Traceable author statement. Source: Reactome fertilization Inferred from electronic annotation. Source: Compara glucose transport Traceable author statement. Source: Reactome learning Inferred from electronic annotation. Source: Compara nucleocytoplasmic transport Inferred from direct assay PubMed 12730363. Source: MGI regulation of glucose transport Traceable author statement. Source: Reactome regulation of nucleocytoplasmic transport Non-traceable author statement PubMed 12730363. Source: UniProtKB small molecule metabolic process Traceable author statement. Source: Reactome transmembrane transport Traceable author statement. Source: Reactome viral reproduction Traceable author statement. Source: Reactome
Cellular_component	centrosome Inferred from direct assay. Source: HPA cytoplasm Inferred from direct assay. Source: HPA nuclear membrane Inferred from direct assay. Source: HPA nuclear pore Inferred from direct assay PubMed 12730363. Source: MGI
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NRG9-1)

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.

Isoform 2 (identifier: Q9NRG9-2)

Also known as: AAAS-v2;

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

Note: Ubiquitously expressed.

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 Ref.11
	Modified residue	495	1	Phosphoserine Ref.11
Natural variations
	Alternative sequence	149 – 182	34	WSSCC…YNASS → C in isoform 2.		VSP_043014
	Natural variant	15	1	Q → K in AAAS. Ref.2		VAR_012804
	Natural variant	108	1	K → M. Corresponds to variant rs13330 [ dbSNP | Ensembl ].		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.5
	Sequence conflict	135	1	R → K in BAA91394. Ref.5
	Sequence conflict	479	1	I → V in BAA91394. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (AAAS-v1) [UniParc]. Last modified October 1, 2000. Version 1. Checksum: E0F4E7145D8C192E	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
	Isoform 2 (AAAS-v2) [UniParc]. Checksum: 282F804D7F10A2C6	FASTA	513	55,814
	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 AEFAQVTNCT IVPSLKHRLQ RNVASLAWKP LSASVLAVAC 190 200 210 220 230 240 QSCILIWTLD PTSLSTRPSS GCAQVLSHPG HTPVTSLAWA PSGGRLLSAS PVDAAIRVWD 250 260 270 280 290 300 VSTETCVPLP WFRGGGVTNL LWSPDGSKIL ATTPSAVFRV WEAQMWTCER WPTLSGRCQT 310 320 330 340 350 360 GCWSPDGSRL LFTVLGEPLI YSLSFPERCG EGKGCVGGAK SATIVADLSE TTIQTPDGEE 370 380 390 400 410 420 RLGGEAHSMV WDPSGERLAV LMKGKPRVQD GKPVILLFRT RNSPVFELLP CGIIQGEPGA 430 440 450 460 470 480 QPQLITFHPS FNKGALLSVG WSTGRIAHIP LYFVNAQFPR FSPVLGRAQE PPAGGGGSIH 490 500 510 DLPLFTETSP TSAPWDPLPG PPPVLPHSPH SHL

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS AAAS LYS-15; ARG-160 AND PRO-263.
[3]	"Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS." Li X., Ji C., Gu J., Xu J., Jin Z., Sun L., Zou X., Lin Y., Sun R., Wang P., Gu S., Mao Y. Mol. Biol. Rep. 32:127-131(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[4]	"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] (ISOFORM 1). Tissue: Liver.
[5]	"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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Adipose tissue.
[6]	"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] (ISOFORM 1).
[7]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Kidney.
[9]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 210-546 (ISOFORM 1). Tissue: Uterus.
[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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-33, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-33 AND SER-495, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00024143. IPI00747361.
RefSeq	NP_001166937.1. NM_001173466.1. NP_056480.1. NM_015665.5.
UniGene	Hs.369144.
3D structure databases
ProteinModelPortal	Q9NRG9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NRG9. 1 interaction.
STRING	9606.ENSP00000209873.
PTM databases
PhosphoSite	Q9NRG9.
Polymorphism databases
DMDM	20137527.
Proteomic databases
PaxDb	Q9NRG9.
PRIDE	Q9NRG9.
Protocols and materials databases
DNASU	8086.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000209873; ENSP00000209873; ENSG00000094914. ENST00000394384; ENSP00000377908; ENSG00000094914.
GeneID	8086.
KEGG	hsa:8086.
UCSC	uc001scr.4. human.
Organism-specific databases
CTD	8086.
GeneCards	GC12M053701.
HGNC	HGNC:13666. AAAS.
HPA	HPA040086.
MIM	231550. phenotype. 605378. gene.
neXtProt	NX_Q9NRG9.
Orphanet	869. Triple A syndrome.
PharmGKB	PA24361.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG314927.
HOGENOM	HOG000033741.
HOVERGEN	HBG026353.
InParanoid	Q9NRG9.
KO	K14320.
OMA	GEGKGCV.
OrthoDB	EOG4C2H96.
PhylomeDB	Q9NRG9.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_116125. Disease. REACT_15518. Transmembrane transport of small molecules. REACT_6900. Immune System.
Gene expression databases
ArrayExpress	Q9NRG9.
Bgee	Q9NRG9.
CleanEx	HS_AAAS.
Genevestigator	Q9NRG9.
GermOnline	ENSG00000094914. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 1 hit.
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view]
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
ChiTaRS	AAAS. human.
GenomeRNAi	8086.
NextBio	30710.
SOURCE	Search...

Entry information

Entry name

AAAS_HUMAN

Accession

Primary (citable) accession number: Q9NRG9
Secondary accession number(s): Q5JB47, Q9NWI6, Q9UG19

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 27, 2002
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 119 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.