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Q9Z0E3

- AIRE_MOUSE

UniProt

Q9Z0E3 - AIRE_MOUSE

Protein

Autoimmune regulator

Gene

Aire

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes. Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which is important for self tolerance and the avoidance of autoimmune reactions By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri298 – 34548PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri434 – 47542PHD-type 2PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: UniProtKB
    2. histone binding Source: UniProtKB
    3. identical protein binding Source: IntAct
    4. transcription regulatory region DNA binding Source: UniProtKB
    5. translation regulator activity Source: InterPro
    6. zinc ion binding Source: UniProtKB

    GO - Biological processi

    1. humoral immune response Source: MGI
    2. positive regulation of transcription, DNA-templated Source: UniProtKB
    3. positive regulation of transcription from RNA polymerase II promoter Source: MGI
    4. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Autoimmune regulator
    Alternative name(s):
    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog
    Short name:
    APECED protein homolog
    Gene namesi
    Name:Aire
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 10

    Organism-specific databases

    MGIiMGI:1338803. Aire.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation. Cytoplasm 1 Publication
    Note: Predominantly nuclear but also cytoplasmic. Found in nuclear body-like structures and in a filamentous vimentin-like pattern.

    GO - Cellular componenti

    1. actin cytoskeleton Source: Ensembl
    2. cytoplasm Source: MGI
    3. intracellular Source: MGI
    4. nucleus Source: MGI
    5. plasma membrane Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi299 – 2991D → A: Abolishes interaction with histone H3. 1 Publication
    Mutagenesisi303 – 3031V → M: No effect on interaction with histone H3. 1 Publication
    Mutagenesisi312 – 3121C → W: Abolishes interaction with histone H3. 1 Publication
    Mutagenesisi313 – 3131C → Y: Abolishes interaction with histone H3. 1 Publication
    Mutagenesisi328 – 3281P → L: Reduces interaction with histone H3. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 552552Autoimmune regulatorPRO_0000064514Add
    BLAST

    Post-translational modificationi

    Phosphorylated.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PRIDEiQ9Z0E3.

    PTM databases

    PhosphoSiteiQ9Z0E3.

    Expressioni

    Tissue specificityi

    Expression may be restricted to a small number of scattered cells in most tissues. Highly expressed in a few cells in the medulla of the thymus. Detected at very low levels in thymus, lymph node, liver, brain, ovary, lung, testis, kidney, heart, spleen, bone marrow, skeletal muscle and adrenal gland. Isoforms 1a to 1d predominate, isoforms 2a to 2d are intermediate and isoforms 3a to 3d are expressed at extremely low levels.

    Gene expression databases

    BgeeiQ9Z0E3.
    GenevestigatoriQ9Z0E3.

    Interactioni

    Subunit structurei

    Homodimer and homotetramer. Interacts with CREBBP. Interacts preferentially with histone H3 that is not methylated at 'Lys-4'. Binds with lower affinity to histone H3 that is monomethylated at 'Lys-4'. Trimethylation of histone H3 at 'Lys-4' or phosphorylation at 'Thr-3' abolish the interaction. Binds with lower affinity to histone H3 that is acetylated at 'Lys-4', or that is acetylated at 'Lys-9' or trimethylated at 'Lys-9'. Binds histone H3 that is dimethylated at 'Arg-2' with very low affinity By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself4EBI-80858,EBI-80858

    Protein-protein interaction databases

    DIPiDIP-31030N.
    IntActiQ9Z0E3. 90 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Z0E3.
    SMRiQ9Z0E3. Positions 295-381, 423-483.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 106106HSRPROSITE-ProRule annotationAdd
    BLAST
    Domaini182 – 282101SANDPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi8 – 125LXXLL motif 1
    Motifi64 – 685LXXLL motif 2
    Motifi114 – 13421Nuclear localization signalSequence AnalysisAdd
    BLAST
    Motifi414 – 4185LXXLL motif 3
    Motifi520 – 5245LXXLL motif 4

    Domaini

    Interacts via the first PHD domain with the N-terminus of histone H3 that is not methylated at 'Lys-4'. Disruption of the first PHD domain has been shown to lead to reduced transcriptional activity and to localization of the protein mainly in the cytoplasm in small granules. While the PHD zinc fingers are necessary for the transactivation capacity of the protein, other regions also modulate this function By similarity.By similarity
    The L-X-X-L-L repeats may be implicated in binding to nuclear receptors.
    The N-terminal HSR domain is required for localization on tubular structures.By similarity

    Sequence similaritiesi

    Contains 1 HSR domain.PROSITE-ProRule annotation
    Contains 2 PHD-type zinc fingers.PROSITE-ProRule annotation
    Contains 1 SAND domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri298 – 34548PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri434 – 47542PHD-type 2PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG317492.
    GeneTreeiENSGT00530000062982.
    HOVERGENiHBG014961.
    InParanoidiQ9Z0E3.
    KOiK10603.
    OMAiAAILDFW.
    OrthoDBiEOG7ZSHT7.
    PhylomeDBiQ9Z0E3.
    TreeFamiTF336193.

    Family and domain databases

    Gene3Di3.10.390.10. 1 hit.
    3.30.40.10. 2 hits.
    InterProiIPR008087. AIRE.
    IPR000770. SAND_dom.
    IPR010919. SAND_dom-like.
    IPR004865. Sp100.
    IPR019786. Zinc_finger_PHD-type_CS.
    IPR011011. Znf_FYVE_PHD.
    IPR001965. Znf_PHD.
    IPR019787. Znf_PHD-finger.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF00628. PHD. 1 hit.
    PF01342. SAND. 1 hit.
    PF03172. Sp100. 1 hit.
    [Graphical view]
    PRINTSiPR01711. AIREGULATOR.
    SMARTiSM00249. PHD. 2 hits.
    SM00184. RING. 2 hits.
    SM00258. SAND. 1 hit.
    [Graphical view]
    SUPFAMiSSF57903. SSF57903. 2 hits.
    SSF63763. SSF63763. 1 hit.
    PROSITEiPS51414. HSR. 1 hit.
    PS50864. SAND. 1 hit.
    PS01359. ZF_PHD_1. 2 hits.
    PS50016. ZF_PHD_2. 1 hit.
    [Graphical view]

    Sequences (12)i

    Sequence statusi: Complete.

    This entry describes 12 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1a (identifier: Q9Z0E3-1) [UniParc]FASTAAdd to Basket

    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

    MAGGDGMLRR LLRLHRTEIA VAIDSAFPLL HALADHDVVP EDKFQETLRL    50
    KEKEGCPQAF HALLSWLLTR DSGAILDFWR ILFKDYNLER YSRLHSILDG 100
    FPKDVDLNQS RKGRKPLAGP KAAVLPPRPP TKRKALEEPR ATPPATLASK 150
    SVSSPGSHLK TKPPKKPDGN LESQHLPLGN GIQTMAASVQ RAVTVASGDV 200
    PGTRGAVEGI LIQQVFESGR SKKCIQVGGE FYTPNKFEDP SGNLKNKARS 250
    GSSLKPVVRA KGAQVTIPGR DEQKVGQQCG VPPLPSLPSE PQVNQKNEDE 300
    CAVCHDGGEL ICCDGCPRAF HLACLSPPLQ EIPSGLWRCS CCLQGRVQQN 350
    LSQPEVSRPP ELPAETPILV GLRSASEKTR GPSRELKASS DAAVTYVNLL 400
    APHPAAPLLE PSALCPLLSA GNEGRPGPAP SARCSVCGDG TEVLRCAHCA 450
    AAFHWRCHFP TAAARPGTNL RCKSCSADST PTPGTPGEAV PTSGPRPAPG 500
    LAKVGDDSAS HDPVLHRDDL ESLLNEHSFD GILQWAIQSM SRPLAETPPF 550
    SS 552
    Length:552
    Mass (Da):59,042
    Last modified:May 1, 1999 - v1
    Checksum:iBF30F8F66B71239A
    GO
    Isoform 1b (identifier: Q9Z0E3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         296-296: Missing.

    Show »
    Length:551
    Mass (Da):58,914
    Checksum:i77C75E773B48B72C
    GO
    Isoform 1c (identifier: Q9Z0E3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-268: Missing.

    Show »
    Length:548
    Mass (Da):58,632
    Checksum:i0B0524A3C5EDCBE6
    GO
    Isoform 1d (identifier: Q9Z0E3-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-268: Missing.
         296-296: Missing.

    Show »
    Length:547
    Mass (Da):58,504
    Checksum:i421B0BD9A7A0CBEC
    GO
    Isoform 2a (identifier: Q9Z0E3-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         367-425: Missing.

    Show »
    Length:493
    Mass (Da):52,996
    Checksum:i13307FC59268E06E
    GO
    Isoform 2b (identifier: Q9Z0E3-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         296-296: Missing.
         367-425: Missing.

    Show »
    Length:492
    Mass (Da):52,868
    Checksum:i9BE6428E275E5781
    GO
    Isoform 2c (identifier: Q9Z0E3-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-268: Missing.
         367-425: Missing.

    Show »
    Length:489
    Mass (Da):52,586
    Checksum:iBA09175B96C9824A
    GO
    Isoform 2d (identifier: Q9Z0E3-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-268: Missing.
         296-296: Missing.
         367-425: Missing.

    Show »
    Length:488
    Mass (Da):52,458
    Checksum:i628EDC8A863C7355
    GO
    Isoform 3a (identifier: Q9Z0E3-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         368-409: ILVGLRSASE...LAPHPAAPLL → DQSPLQILLC...WACQGRGRLC
         410-552: Missing.

    Note: Probably inactive.

    Show »
    Length:409
    Mass (Da):44,571
    Checksum:i4F95F6914E91E109
    GO
    Isoform 3b (identifier: Q9Z0E3-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         296-296: Missing.
         368-409: ILVGLRSASE...LAPHPAAPLL → DQSPLQILLC...WACQGRGRLC
         410-552: Missing.

    Note: Probably inactive.

    Show »
    Length:408
    Mass (Da):44,443
    Checksum:i36857622FFED94C8
    GO
    Isoform 3c (identifier: Q9Z0E3-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-268: Missing.
         368-409: ILVGLRSASE...LAPHPAAPLL → DQSPLQILLC...WACQGRGRLC
         410-552: Missing.

    Note: Probably inactive.

    Show »
    Length:405
    Mass (Da):44,161
    Checksum:i4D820E9642824F3A
    GO
    Isoform 3d (identifier: Q9Z0E3-12) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-268: Missing.
         296-296: Missing.
         368-409: ILVGLRSASE...LAPHPAAPLL → DQSPLQILLC...WACQGRGRLC
         410-552: Missing.

    Note: Probably inactive.

    Show »
    Length:404
    Mass (Da):44,032
    Checksum:iF17D712EEC43A7CB
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei265 – 2684Missing in isoform 1c, isoform 1d, isoform 2c, isoform 2d, isoform 3c and isoform 3d. 1 PublicationVSP_004091
    Alternative sequencei296 – 2961Missing in isoform 1b, isoform 1d, isoform 2b, isoform 2d, isoform 3b and isoform 3d. 1 PublicationVSP_004092
    Alternative sequencei367 – 42559Missing in isoform 2a, isoform 2b, isoform 2c and isoform 2d. 1 PublicationVSP_004093Add
    BLAST
    Alternative sequencei368 – 40942ILVGL…AAPLL → DQSPLQILLCRLDSHARHTG RSCTHLWAPSSTWACQGRGR LC in isoform 3a, isoform 3b, isoform 3c and isoform 3d. 1 PublicationVSP_004094Add
    BLAST
    Alternative sequencei410 – 552143Missing in isoform 3a, isoform 3b, isoform 3c and isoform 3d. 1 PublicationVSP_004095Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF105002 Genomic DNA. Translation: AAD46421.1.
    AF128772 mRNA. Translation: AAF36481.1.
    AF128773 mRNA. Translation: AAF36482.1.
    AJ007715 Genomic DNA. Translation: CAA07620.1.
    AF079536 mRNA. Translation: AAD20444.1.
    AJ132243 mRNA. Translation: CAB36909.1.
    AF128115 mRNA. Translation: AAF36460.1.
    AF128116 mRNA. Translation: AAF36461.1.
    AF128117 mRNA. Translation: AAF36462.1.
    AF128118 mRNA. Translation: AAF36463.1.
    AF128119 mRNA. Translation: AAF36464.1.
    AF128120 mRNA. Translation: AAF36465.1.
    AF128121 mRNA. Translation: AAF36466.1.
    AF128122 mRNA. Translation: AAF36467.1.
    AF128123 mRNA. Translation: AAF36468.1.
    AF128124 mRNA. Translation: AAF36469.1.
    AF128125 mRNA. Translation: AAF36470.1.
    AJ243821 mRNA. Translation: CAB66141.1.
    CCDSiCCDS23961.1. [Q9Z0E3-1]
    CCDS70051.1. [Q9Z0E3-10]
    CCDS70052.1. [Q9Z0E3-6]
    CCDS70053.1. [Q9Z0E3-2]
    CCDS70054.1. [Q9Z0E3-9]
    CCDS70055.1. [Q9Z0E3-5]
    CCDS70056.1. [Q9Z0E3-12]
    CCDS70057.1. [Q9Z0E3-8]
    CCDS70058.1. [Q9Z0E3-4]
    CCDS70059.1. [Q9Z0E3-11]
    CCDS70060.1. [Q9Z0E3-3]
    RefSeqiNP_001258478.1. NM_001271549.1. [Q9Z0E3-2]
    NP_001258479.1. NM_001271550.1. [Q9Z0E3-3]
    NP_001258480.1. NM_001271551.1. [Q9Z0E3-4]
    NP_001258481.1. NM_001271552.1. [Q9Z0E3-5]
    NP_001258482.1. NM_001271553.1. [Q9Z0E3-6]
    NP_001258483.1. NM_001271554.1. [Q9Z0E3-7]
    NP_001258484.1. NM_001271555.1. [Q9Z0E3-8]
    NP_001258485.1. NM_001271556.1. [Q9Z0E3-9]
    NP_001258486.1. NM_001271557.1. [Q9Z0E3-10]
    NP_001258487.1. NM_001271558.1. [Q9Z0E3-11]
    NP_001258488.1. NM_001271559.1. [Q9Z0E3-12]
    NP_033776.1. NM_009646.2. [Q9Z0E3-1]
    XP_006513166.1. XM_006513103.1. [Q9Z0E3-9]
    UniGeneiMm.35300.

    Genome annotation databases

    EnsembliENSMUST00000019257; ENSMUSP00000019257; ENSMUSG00000000731. [Q9Z0E3-2]
    ENSMUST00000105395; ENSMUSP00000101034; ENSMUSG00000000731. [Q9Z0E3-9]
    ENSMUST00000105396; ENSMUSP00000101035; ENSMUSG00000000731. [Q9Z0E3-6]
    ENSMUST00000128241; ENSMUSP00000114904; ENSMUSG00000000731. [Q9Z0E3-1]
    ENSMUST00000130972; ENSMUSP00000122659; ENSMUSG00000000731. [Q9Z0E3-4]
    ENSMUST00000140636; ENSMUSP00000121477; ENSMUSG00000000731. [Q9Z0E3-12]
    ENSMUST00000145975; ENSMUSP00000120150; ENSMUSG00000000731. [Q9Z0E3-3]
    ENSMUST00000148469; ENSMUSP00000118317; ENSMUSG00000000731. [Q9Z0E3-11]
    ENSMUST00000154374; ENSMUSP00000117094; ENSMUSG00000000731. [Q9Z0E3-5]
    ENSMUST00000155021; ENSMUSP00000122190; ENSMUSG00000000731. [Q9Z0E3-8]
    ENSMUST00000156417; ENSMUSP00000115162; ENSMUSG00000000731. [Q9Z0E3-10]
    GeneIDi11634.
    KEGGimmu:11634.
    UCSCiuc007fwr.1. mouse. [Q9Z0E3-1]
    uc007fws.1. mouse. [Q9Z0E3-4]
    uc007fwt.1. mouse. [Q9Z0E3-10]
    uc007fwu.1. mouse. [Q9Z0E3-6]
    uc007fwv.1. mouse. [Q9Z0E3-12]
    uc007fww.1. mouse. [Q9Z0E3-8]
    uc007fwx.1. mouse. [Q9Z0E3-3]
    uc007fwz.1. mouse. [Q9Z0E3-9]
    uc007fxa.1. mouse. [Q9Z0E3-11]
    uc007fxb.1. mouse. [Q9Z0E3-7]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF105002 Genomic DNA. Translation: AAD46421.1 .
    AF128772 mRNA. Translation: AAF36481.1 .
    AF128773 mRNA. Translation: AAF36482.1 .
    AJ007715 Genomic DNA. Translation: CAA07620.1 .
    AF079536 mRNA. Translation: AAD20444.1 .
    AJ132243 mRNA. Translation: CAB36909.1 .
    AF128115 mRNA. Translation: AAF36460.1 .
    AF128116 mRNA. Translation: AAF36461.1 .
    AF128117 mRNA. Translation: AAF36462.1 .
    AF128118 mRNA. Translation: AAF36463.1 .
    AF128119 mRNA. Translation: AAF36464.1 .
    AF128120 mRNA. Translation: AAF36465.1 .
    AF128121 mRNA. Translation: AAF36466.1 .
    AF128122 mRNA. Translation: AAF36467.1 .
    AF128123 mRNA. Translation: AAF36468.1 .
    AF128124 mRNA. Translation: AAF36469.1 .
    AF128125 mRNA. Translation: AAF36470.1 .
    AJ243821 mRNA. Translation: CAB66141.1 .
    CCDSi CCDS23961.1. [Q9Z0E3-1 ]
    CCDS70051.1. [Q9Z0E3-10 ]
    CCDS70052.1. [Q9Z0E3-6 ]
    CCDS70053.1. [Q9Z0E3-2 ]
    CCDS70054.1. [Q9Z0E3-9 ]
    CCDS70055.1. [Q9Z0E3-5 ]
    CCDS70056.1. [Q9Z0E3-12 ]
    CCDS70057.1. [Q9Z0E3-8 ]
    CCDS70058.1. [Q9Z0E3-4 ]
    CCDS70059.1. [Q9Z0E3-11 ]
    CCDS70060.1. [Q9Z0E3-3 ]
    RefSeqi NP_001258478.1. NM_001271549.1. [Q9Z0E3-2 ]
    NP_001258479.1. NM_001271550.1. [Q9Z0E3-3 ]
    NP_001258480.1. NM_001271551.1. [Q9Z0E3-4 ]
    NP_001258481.1. NM_001271552.1. [Q9Z0E3-5 ]
    NP_001258482.1. NM_001271553.1. [Q9Z0E3-6 ]
    NP_001258483.1. NM_001271554.1. [Q9Z0E3-7 ]
    NP_001258484.1. NM_001271555.1. [Q9Z0E3-8 ]
    NP_001258485.1. NM_001271556.1. [Q9Z0E3-9 ]
    NP_001258486.1. NM_001271557.1. [Q9Z0E3-10 ]
    NP_001258487.1. NM_001271558.1. [Q9Z0E3-11 ]
    NP_001258488.1. NM_001271559.1. [Q9Z0E3-12 ]
    NP_033776.1. NM_009646.2. [Q9Z0E3-1 ]
    XP_006513166.1. XM_006513103.1. [Q9Z0E3-9 ]
    UniGenei Mm.35300.

    3D structure databases

    ProteinModelPortali Q9Z0E3.
    SMRi Q9Z0E3. Positions 295-381, 423-483.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-31030N.
    IntActi Q9Z0E3. 90 interactions.

    PTM databases

    PhosphoSitei Q9Z0E3.

    Proteomic databases

    PRIDEi Q9Z0E3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000019257 ; ENSMUSP00000019257 ; ENSMUSG00000000731 . [Q9Z0E3-2 ]
    ENSMUST00000105395 ; ENSMUSP00000101034 ; ENSMUSG00000000731 . [Q9Z0E3-9 ]
    ENSMUST00000105396 ; ENSMUSP00000101035 ; ENSMUSG00000000731 . [Q9Z0E3-6 ]
    ENSMUST00000128241 ; ENSMUSP00000114904 ; ENSMUSG00000000731 . [Q9Z0E3-1 ]
    ENSMUST00000130972 ; ENSMUSP00000122659 ; ENSMUSG00000000731 . [Q9Z0E3-4 ]
    ENSMUST00000140636 ; ENSMUSP00000121477 ; ENSMUSG00000000731 . [Q9Z0E3-12 ]
    ENSMUST00000145975 ; ENSMUSP00000120150 ; ENSMUSG00000000731 . [Q9Z0E3-3 ]
    ENSMUST00000148469 ; ENSMUSP00000118317 ; ENSMUSG00000000731 . [Q9Z0E3-11 ]
    ENSMUST00000154374 ; ENSMUSP00000117094 ; ENSMUSG00000000731 . [Q9Z0E3-5 ]
    ENSMUST00000155021 ; ENSMUSP00000122190 ; ENSMUSG00000000731 . [Q9Z0E3-8 ]
    ENSMUST00000156417 ; ENSMUSP00000115162 ; ENSMUSG00000000731 . [Q9Z0E3-10 ]
    GeneIDi 11634.
    KEGGi mmu:11634.
    UCSCi uc007fwr.1. mouse. [Q9Z0E3-1 ]
    uc007fws.1. mouse. [Q9Z0E3-4 ]
    uc007fwt.1. mouse. [Q9Z0E3-10 ]
    uc007fwu.1. mouse. [Q9Z0E3-6 ]
    uc007fwv.1. mouse. [Q9Z0E3-12 ]
    uc007fww.1. mouse. [Q9Z0E3-8 ]
    uc007fwx.1. mouse. [Q9Z0E3-3 ]
    uc007fwz.1. mouse. [Q9Z0E3-9 ]
    uc007fxa.1. mouse. [Q9Z0E3-11 ]
    uc007fxb.1. mouse. [Q9Z0E3-7 ]

    Organism-specific databases

    CTDi 326.
    MGIi MGI:1338803. Aire.

    Phylogenomic databases

    eggNOGi NOG317492.
    GeneTreei ENSGT00530000062982.
    HOVERGENi HBG014961.
    InParanoidi Q9Z0E3.
    KOi K10603.
    OMAi AAILDFW.
    OrthoDBi EOG7ZSHT7.
    PhylomeDBi Q9Z0E3.
    TreeFami TF336193.

    Miscellaneous databases

    ChiTaRSi AIRE. mouse.
    NextBioi 279201.
    PROi Q9Z0E3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Z0E3.
    Genevestigatori Q9Z0E3.

    Family and domain databases

    Gene3Di 3.10.390.10. 1 hit.
    3.30.40.10. 2 hits.
    InterProi IPR008087. AIRE.
    IPR000770. SAND_dom.
    IPR010919. SAND_dom-like.
    IPR004865. Sp100.
    IPR019786. Zinc_finger_PHD-type_CS.
    IPR011011. Znf_FYVE_PHD.
    IPR001965. Znf_PHD.
    IPR019787. Znf_PHD-finger.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF00628. PHD. 1 hit.
    PF01342. SAND. 1 hit.
    PF03172. Sp100. 1 hit.
    [Graphical view ]
    PRINTSi PR01711. AIREGULATOR.
    SMARTi SM00249. PHD. 2 hits.
    SM00184. RING. 2 hits.
    SM00258. SAND. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57903. SSF57903. 2 hits.
    SSF63763. SSF63763. 1 hit.
    PROSITEi PS51414. HSR. 1 hit.
    PS50864. SAND. 1 hit.
    PS01359. ZF_PHD_1. 2 hits.
    PS50016. ZF_PHD_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire)."
      Shi J.-D., Wang C.-Y., Marron M.P., Ruan Q.-G., Huang Y.Q., Detter J.C., She J.-X.
      Autoimmunity 31:47-53(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1A).
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1A).
      Strain: 129/Sv.
    3. "Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (ASP1)."
      Wang C.-Y., Shi J.-D., Davoodi-Semiromi A., She J.-X.
      Genomics 55:322-326(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A).
      Strain: C57BL/6.
      Tissue: Thymus.
    4. "The mouse Aire gene: comparative genomic sequencing, gene organization, and expression."
      Blechschmidt K., Schweiger M., Wertz K., Poulson R., Christensen H.-M., Rosenthal A., Lehrach H., Yaspo M.-L.
      Genome Res. 9:158-166(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
      Strain: 129.
    5. "Expression and alternative splicing of the mouse autoimmune regulator gene (Aire)."
      Ruan Q.-G., Wang C.-Y., Shi J.-D., She J.-X.
      J. Autoimmun. 13:307-313(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A; 1B; 1C; 1D; 2A; 2B; 2C; 2D; 3A; 3B; 3C AND 3D).
      Strain: C57BL/6, NOD and SJL.
    6. "Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)."
      Halonen M., Pelto-Huikko M., Eskelin P., Peltonen L., Ulmanen I., Kolmer M.
      J. Histochem. Cytochem. 49:197-208(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A), SUBCELLULAR LOCATION.
      Tissue: Kidney and Thymus.
    7. Cited for: SUBUNIT STRUCTURE, PHOSPHORYLATION.
    8. "Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity."
      Koh A.S., Kuo A.J., Park S.Y., Cheung P., Abramson J., Bua D., Carney D., Shoelson S.E., Gozani O., Kingston R.E., Benoist C., Mathis D.
      Proc. Natl. Acad. Sci. U.S.A. 105:15878-15883(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH THE N-TERMINUS OF UNMODIFIED HISTONE H3, INTERACTION WITH NUCLEOSOMES, DNA-BINDING, MUTAGENESIS OF ASP-299; VAL-303; CYS-312; CYS-313 AND PRO-328.

    Entry informationi

    Entry nameiAIRE_MOUSE
    AccessioniPrimary (citable) accession number: Q9Z0E3
    Secondary accession number(s): Q9JLW0
    , Q9JLW1, Q9JLW2, Q9JLW3, Q9JLW4, Q9JLW5, Q9JLW6, Q9JLW7, Q9JLW8, Q9JLW9, Q9JLX0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 13, 2002
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 118 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3