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Q9Z0E3

- AIRE_MOUSE

UniProt

Q9Z0E3 - AIRE_MOUSE

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Protein

Autoimmune regulator

Gene
Aire
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri298 – 34548PHD-type 1Add
BLAST
Zinc fingeri434 – 47542PHD-type 2Add
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
Complete GO annotation...

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

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
Complete GO annotation...

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.2 Publications

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 106106HSRAdd
BLAST
Domaini182 – 282101SANDAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi8 – 125LXXLL motif 1
Motifi64 – 685LXXLL motif 2
Motifi114 – 13421Nuclear localization signal Reviewed predictionAdd
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.
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.
Contains 1 SAND domain.

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri298 – 34548PHD-type 1Add
BLAST
Zinc fingeri434 – 47542PHD-type 2Add
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. VSP_004091
Alternative sequencei296 – 2961Missing in isoform 1b, isoform 1d, isoform 2b, isoform 2d, isoform 3b and isoform 3d. VSP_004092
Alternative sequencei367 – 42559Missing in isoform 2a, isoform 2b, isoform 2c and isoform 2d. VSP_004093Add
BLAST
Alternative sequencei368 – 40942ILVGL…AAPLL → DQSPLQILLCRLDSHARHTG RSCTHLWAPSSTWACQGRGR LC in isoform 3a, isoform 3b, isoform 3c and isoform 3d. VSP_004094Add
BLAST
Alternative sequencei410 – 552143Missing in isoform 3a, isoform 3b, isoform 3c and isoform 3d. VSP_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: July 9, 2014
This is version 117 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

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