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Q9NRG9

- AAAS_HUMAN

UniProt

Q9NRG9 - AAAS_HUMAN

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Protein

Aladin

Gene

AAAS

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. carbohydrate metabolic process Source: Reactome
  2. cytokine-mediated signaling pathway Source: Reactome
  3. fertilization Source: Ensembl
  4. glucose transport Source: Reactome
  5. hexose transport Source: Reactome
  6. learning Source: Ensembl
  7. mitotic cell cycle Source: Reactome
  8. mitotic nuclear envelope disassembly Source: Reactome
  9. mRNA transport Source: UniProtKB-KW
  10. nucleocytoplasmic transport Source: MGI
  11. protein transport Source: UniProtKB-KW
  12. regulation of glucose transport Source: Reactome
  13. regulation of nucleocytoplasmic transport Source: UniProtKB
  14. small molecule metabolic process Source: Reactome
  15. transmembrane transport Source: Reactome
  16. viral process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

mRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiREACT_115831. ISG15 antiviral mechanism.
REACT_163931. Nuclear Pore Complex (NPC) Disassembly.
REACT_267668. Transcriptional regulation by small RNAs.
REACT_6190. Rev-mediated nuclear export of HIV RNA.
REACT_6354. Viral Messenger RNA Synthesis.
REACT_6804. Regulation of Glucokinase by Glucokinase Regulatory Protein.
REACT_7991. Vpr-mediated nuclear import of PICs.
REACT_9395. Nuclear import of Rev protein.
SignaLinkiQ9NRG9.

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:13666. AAAS.

Subcellular locationi

Nucleusnuclear pore complex 1 Publication

GO - Cellular componenti

  1. centrosome Source: HPA
  2. cytoplasm Source: HPA
  3. membrane Source: UniProtKB
  4. nuclear envelope Source: Reactome
  5. nuclear membrane Source: HPA
  6. nuclear pore Source: MGI
  7. nucleus Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Nuclear pore complex, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151Q → K in AAAS. 1 Publication
VAR_012804
Natural varianti160 – 1601H → R in AAAS. 1 Publication
VAR_012805
Natural varianti263 – 2631S → P in AAAS. 1 Publication
Corresponds to variant rs121918550 [ dbSNP | Ensembl ].
VAR_012806

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi231550. phenotype.
Orphaneti869. Triple A syndrome.
PharmGKBiPA24361.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 546545AladinPRO_0000050828Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylcysteine2 Publications
Modified residuei33 – 331Phosphoserine2 Publications
Modified residuei495 – 4951Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9NRG9.
PaxDbiQ9NRG9.
PRIDEiQ9NRG9.

PTM databases

PhosphoSiteiQ9NRG9.

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

BgeeiQ9NRG9.
CleanExiHS_AAAS.
ExpressionAtlasiQ9NRG9. baseline and differential.
GenevestigatoriQ9NRG9.

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. 10 interactions.
IntActiQ9NRG9. 3 interactions.
MINTiMINT-3073010.
STRINGi9606.ENSP00000209873.

Structurei

3D structure databases

ProteinModelPortaliQ9NRG9.
SMRiQ9NRG9. Positions 248-298.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati149 – 18840WD 1Add
BLAST
Repeati191 – 23040WD 2Add
BLAST
Repeati243 – 28240WD 3Add
BLAST
Repeati285 – 32440WD 4Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi544 – 5463Microbody targeting signalSequence Analysis

Sequence similaritiesi

Contains 4 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG314927.
GeneTreeiENSGT00390000009446.
HOGENOMiHOG000033741.
HOVERGENiHBG026353.
InParanoidiQ9NRG9.
KOiK14320.
OMAiGEGKGCV.
OrthoDBiEOG7JQBN1.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti122 – 1221S → P in BAA91394. (PubMed:14702039)Curated
Sequence conflicti135 – 1351R → K in BAA91394. (PubMed:14702039)Curated
Sequence conflicti479 – 4791I → V in BAA91394. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151Q → K in AAAS. 1 Publication
VAR_012804
Natural varianti108 – 1081K → M.
Corresponds to variant rs13330 [ dbSNP | Ensembl ].
VAR_037060
Natural varianti160 – 1601H → R in AAAS. 1 Publication
VAR_012805
Natural varianti263 – 2631S → P in AAAS. 1 Publication
Corresponds to variant rs121918550 [ dbSNP | Ensembl ].
VAR_012806

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei149 – 18234WSSCC…YNASS → C in isoform 2. 1 PublicationVSP_043014Add
BLAST

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.4. human. [Q9NRG9-1]
uc001scs.4. human. [Q9NRG9-2]

Polymorphism databases

DMDMi20137527.

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 .
CCDSi CCDS53797.1. [Q9NRG9-2 ]
CCDS8856.1. [Q9NRG9-1 ]
RefSeqi NP_001166937.1. NM_001173466.1. [Q9NRG9-2 ]
NP_056480.1. NM_015665.5. [Q9NRG9-1 ]
UniGenei Hs.369144.

3D structure databases

ProteinModelPortali Q9NRG9.
SMRi Q9NRG9. Positions 248-298.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113759. 10 interactions.
IntActi Q9NRG9. 3 interactions.
MINTi MINT-3073010.
STRINGi 9606.ENSP00000209873.

PTM databases

PhosphoSitei Q9NRG9.

Polymorphism databases

DMDMi 20137527.

Proteomic databases

MaxQBi Q9NRG9.
PaxDbi Q9NRG9.
PRIDEi Q9NRG9.

Protocols and materials databases

DNASUi 8086.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000209873 ; ENSP00000209873 ; ENSG00000094914 . [Q9NRG9-1 ]
ENST00000394384 ; ENSP00000377908 ; ENSG00000094914 . [Q9NRG9-2 ]
GeneIDi 8086.
KEGGi hsa:8086.
UCSCi uc001scr.4. human. [Q9NRG9-1 ]
uc001scs.4. human. [Q9NRG9-2 ]

Organism-specific databases

CTDi 8086.
GeneCardsi GC12M053701.
HGNCi HGNC:13666. AAAS.
HPAi HPA040086.
MIMi 231550. phenotype.
605378. gene.
neXtProti NX_Q9NRG9.
Orphaneti 869. Triple A syndrome.
PharmGKBi PA24361.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG314927.
GeneTreei ENSGT00390000009446.
HOGENOMi HOG000033741.
HOVERGENi HBG026353.
InParanoidi Q9NRG9.
KOi K14320.
OMAi GEGKGCV.
OrthoDBi EOG7JQBN1.
PhylomeDBi Q9NRG9.
TreeFami TF324412.

Enzyme and pathway databases

Reactomei REACT_115831. ISG15 antiviral mechanism.
REACT_163931. Nuclear Pore Complex (NPC) Disassembly.
REACT_267668. Transcriptional regulation by small RNAs.
REACT_6190. Rev-mediated nuclear export of HIV RNA.
REACT_6354. Viral Messenger RNA Synthesis.
REACT_6804. Regulation of Glucokinase by Glucokinase Regulatory Protein.
REACT_7991. Vpr-mediated nuclear import of PICs.
REACT_9395. Nuclear import of Rev protein.
SignaLinki Q9NRG9.

Miscellaneous databases

ChiTaRSi AAAS. human.
GeneWikii AAAS_(gene).
GenomeRNAii 8086.
NextBioi 30710.
PROi Q9NRG9.
SOURCEi Search...

Gene expression databases

Bgeei Q9NRG9.
CleanExi HS_AAAS.
ExpressionAtlasi Q9NRG9. baseline and differential.
Genevestigatori Q9NRG9.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
InterProi IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00400. WD40. 1 hit.
[Graphical view ]
SMARTi SM00320. WD40. 4 hits.
[Graphical view ]
PROSITEi PS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 210-546 (ISOFORM 1).
    Tissue: Uterus.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-33, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope."
    Kind B., Koehler K., Lorenz M., Huebner A.
    Biochem. Biophys. Res. Commun. 390:205-210(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH NDC1.
  12. "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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT CYS-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  15. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT CYS-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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 26, 2014
This is version 136 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

External Data

Dasty 3