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Q9NRG9

- AAAS_HUMAN

UniProt

Q9NRG9 - AAAS_HUMAN

Protein

Aladin

Gene

AAAS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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

    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_6190. Rev-mediated nuclear export of HIV RNA.
    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

    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

    ArrayExpressiQ9NRG9.
    BgeeiQ9NRG9.
    CleanExiHS_AAAS.
    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. 5 interactions.
    IntActiQ9NRG9. 3 interactions.
    MINTiMINT-3073010.
    STRINGi9606.ENSP00000209873.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NRG9.
    SMRiQ9NRG9. Positions 154-179, 247-273.
    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.
    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

    MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL    50
    TKDPLKTPGR LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE 100
    EEVFEWVKTA SGWALALCRW ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS 150
    SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA SSTIVPSLKH RLQRNVASLA 200
    WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS HPGHTPVTSL 250
    AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS 300
    KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE 350
    PLIYSLSFPE RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH 400
    SMVWDPSGER LAVLMKGKPR VQDGKPVILL FRTRNSPVFE LLPCGIIQGE 450
    PGAQPQLITF HPSFNKGALL SVGWSTGRIA HIPLYFVNAQ FPRFSPVLGR 500
    AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH SPHSHL 546
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 154-179, 247-273.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113759. 5 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.
    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_6190. Rev-mediated nuclear export of HIV RNA.
    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

    ArrayExpressi Q9NRG9.
    Bgeei Q9NRG9.
    CleanExi HS_AAAS.
    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

    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: October 1, 2014
    This is version 134 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