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Entry version 155 (16 Oct 2019)
Sequence version 1 (01 May 1999)
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Protein

Autoimmune regulator

Gene

Aire

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (Probable). 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 (By similarity). 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. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (By similarity). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program (PubMed:19015306). Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression (PubMed:21300913). Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes (PubMed:19923453). In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection (PubMed:26070482). In secondary lymphoid organs, induces functional inactivation of CD4+ T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (PubMed:23993652).By similarity1 Publication5 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri298 – 345PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri434 – 475PHD-type 2PROSITE-ProRule annotationAdd BLAST42

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Autoimmune regulator
Alternative name(s):
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog
Short name:
APECED protein homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:Aire
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiMus musculus (Mouse)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri10090 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000000589 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...
MGIi
MGI:1338803 Aire

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypei

Deficient mice show an altered thymic organization with altered morphology and location of mTECs (PubMed:19015306). They exhibit defective accumulation of thymic dendritic cells in the medullary region and generation of naturally ocurring T cells in the thymus (PubMed:21300913).2 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi299D → A: Abolishes interaction with histone H3. 1 Publication1
Mutagenesisi303V → M: No effect on interaction with histone H3. 1 Publication1
Mutagenesisi312C → W: Abolishes interaction with histone H3. 1 Publication1
Mutagenesisi313C → Y: Abolishes interaction with histone H3. 1 Publication1
Mutagenesisi328P → L: Reduces interaction with histone H3. 1 Publication1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000645141 – 552Autoimmune regulatorAdd BLAST552

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Z0E3

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Z0E3

PRoteomics IDEntifications database

More...
PRIDEi
Q9Z0E3

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Z0E3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Z0E3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in a few cells in the medulla of the thymus (medullary epithelial cells) (at protein level) (PubMed:23993652). Expressed in thymic but no peripheral B-cells (PubMed:26070482). In secondary lymphoid organs, expressed in a discrete population of bone marrow-derived toleregenic antigen presenting cells (APCs) called extrathymic AIRE expressing cells (eTAC)(at protein level) (PubMed:23993652). 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.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In the thymus, not expressed at 13.5 dpc but present at 16.5 dpc and postnatal day 1.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSMUSG00000000731 Expressed in 79 organ(s), highest expression level in vestibular labyrinth

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Z0E3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Z0E3 MM

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

Database of interacting proteins

More...
DIPi
DIP-31030N

Protein interaction database and analysis system

More...
IntActi
Q9Z0E3, 90 interactors

STRING: functional protein association networks

More...
STRINGi
10090.ENSMUSP00000114904

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 106HSRPROSITE-ProRule annotationAdd BLAST106
Domaini182 – 282SANDPROSITE-ProRule annotationAdd BLAST101

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi8 – 12LXXLL motif 15
Motifi64 – 68LXXLL motif 25
Motifi114 – 134Nuclear localization signalSequence analysisAdd BLAST21
Motifi414 – 418LXXLL motif 35
Motifi520 – 524LXXLL motif 45

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri298 – 345PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri434 – 475PHD-type 2PROSITE-ProRule annotationAdd BLAST42

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IRE7 Eukaryota
ENOG410XQQA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161104

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Z0E3

KEGG Orthology (KO)

More...
KOi
K10603

Identification of Orthologs from Complete Genome Data

More...
OMAi
YKHLPAP

Database of Orthologous Groups

More...
OrthoDBi
1203363at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Z0E3

TreeFam database of animal gene trees

More...
TreeFami
TF336193

Family and domain databases

Conserved Domains Database

More...
CDDi
cd15540 PHD2_AIRE, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.10.390.10, 1 hit
3.30.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008087 AIRE
IPR042580 AIRE_PHD2
IPR004865 HSR_dom
IPR010919 SAND-like_dom_sf
IPR000770 SAND_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03172 HSR, 1 hit
PF00628 PHD, 1 hit
PF01342 SAND, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01711 AIREGULATOR

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00249 PHD, 2 hits
SM00258 SAND, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57903 SSF57903, 2 hits
SSF63763 SSF63763, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51414 HSR, 1 hit
PS50864 SAND, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (12+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 12 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 12 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAGGDGMLRR LLRLHRTEIA VAIDSAFPLL HALADHDVVP EDKFQETLRL
60 70 80 90 100
KEKEGCPQAF HALLSWLLTR DSGAILDFWR ILFKDYNLER YSRLHSILDG
110 120 130 140 150
FPKDVDLNQS RKGRKPLAGP KAAVLPPRPP TKRKALEEPR ATPPATLASK
160 170 180 190 200
SVSSPGSHLK TKPPKKPDGN LESQHLPLGN GIQTMAASVQ RAVTVASGDV
210 220 230 240 250
PGTRGAVEGI LIQQVFESGR SKKCIQVGGE FYTPNKFEDP SGNLKNKARS
260 270 280 290 300
GSSLKPVVRA KGAQVTIPGR DEQKVGQQCG VPPLPSLPSE PQVNQKNEDE
310 320 330 340 350
CAVCHDGGEL ICCDGCPRAF HLACLSPPLQ EIPSGLWRCS CCLQGRVQQN
360 370 380 390 400
LSQPEVSRPP ELPAETPILV GLRSASEKTR GPSRELKASS DAAVTYVNLL
410 420 430 440 450
APHPAAPLLE PSALCPLLSA GNEGRPGPAP SARCSVCGDG TEVLRCAHCA
460 470 480 490 500
AAFHWRCHFP TAAARPGTNL RCKSCSADST PTPGTPGEAV PTSGPRPAPG
510 520 530 540 550
LAKVGDDSAS HDPVLHRDDL ESLLNEHSFD GILQWAIQSM SRPLAETPPF

SS
Length:552
Mass (Da):59,042
Last modified:May 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9Q441E9Q441_MOUSE
Autoimmune regulator
Aire
317Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RDQ5D6RDQ5_MOUSE
Autoimmune regulator
Aire
67Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_004091265 – 268Missing in isoform 1c, isoform 1d, isoform 2c, isoform 2d, isoform 3c and isoform 3d. 1 Publication4
Alternative sequenceiVSP_004092296Missing in isoform 1b, isoform 1d, isoform 2b, isoform 2d, isoform 3b and isoform 3d. 1 Publication1
Alternative sequenceiVSP_004093367 – 425Missing in isoform 2a, isoform 2b, isoform 2c and isoform 2d. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_004094368 – 409ILVGL…AAPLL → DQSPLQILLCRLDSHARHTG RSCTHLWAPSSTWACQGRGR LC in isoform 3a, isoform 3b, isoform 3c and isoform 3d. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_004095410 – 552Missing in isoform 3a, isoform 3b, isoform 3c and isoform 3d. 1 PublicationAdd BLAST143

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
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]

NCBI Reference Sequences

More...
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
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]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11634

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
mmu:11634

UCSC genome browser

More...
UCSCi
uc007fwr.2 mouse [Q9Z0E3-1]
uc007fws.2 mouse [Q9Z0E3-4]
uc007fwt.2 mouse [Q9Z0E3-10]
uc007fwu.2 mouse [Q9Z0E3-6]
uc007fwv.2 mouse [Q9Z0E3-12]
uc007fww.2 mouse [Q9Z0E3-8]
uc007fwx.2 mouse [Q9Z0E3-3]
uc007fwz.2 mouse [Q9Z0E3-9]
uc007fxa.2 mouse [Q9Z0E3-11]
uc007fxb.2 mouse [Q9Z0E3-7]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

DIPiDIP-31030N
IntActiQ9Z0E3, 90 interactors
STRINGi10090.ENSMUSP00000114904

PTM databases

iPTMnetiQ9Z0E3
PhosphoSitePlusiQ9Z0E3

Proteomic databases

jPOSTiQ9Z0E3
PaxDbiQ9Z0E3
PRIDEiQ9Z0E3

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.2 mouse [Q9Z0E3-1]
uc007fws.2 mouse [Q9Z0E3-4]
uc007fwt.2 mouse [Q9Z0E3-10]
uc007fwu.2 mouse [Q9Z0E3-6]
uc007fwv.2 mouse [Q9Z0E3-12]
uc007fww.2 mouse [Q9Z0E3-8]
uc007fwx.2 mouse [Q9Z0E3-3]
uc007fwz.2 mouse [Q9Z0E3-9]
uc007fxa.2 mouse [Q9Z0E3-11]
uc007fxb.2 mouse [Q9Z0E3-7]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
326
MGIiMGI:1338803 Aire

Phylogenomic databases

eggNOGiENOG410IRE7 Eukaryota
ENOG410XQQA LUCA
GeneTreeiENSGT00940000161104
InParanoidiQ9Z0E3
KOiK10603
OMAiYKHLPAP
OrthoDBi1203363at2759
PhylomeDBiQ9Z0E3
TreeFamiTF336193

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
Aire mouse

Protein Ontology

More...
PROi
PR:Q9Z0E3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSMUSG00000000731 Expressed in 79 organ(s), highest expression level in vestibular labyrinth
ExpressionAtlasiQ9Z0E3 baseline and differential
GenevisibleiQ9Z0E3 MM

Family and domain databases

CDDicd15540 PHD2_AIRE, 1 hit
Gene3Di3.10.390.10, 1 hit
3.30.40.10, 2 hits
InterProiView protein in InterPro
IPR008087 AIRE
IPR042580 AIRE_PHD2
IPR004865 HSR_dom
IPR010919 SAND-like_dom_sf
IPR000770 SAND_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF03172 HSR, 1 hit
PF00628 PHD, 1 hit
PF01342 SAND, 1 hit
PRINTSiPR01711 AIREGULATOR
SMARTiView protein in SMART
SM00249 PHD, 2 hits
SM00258 SAND, 1 hit
SUPFAMiSSF57903 SSF57903, 2 hits
SSF63763 SSF63763, 1 hit
PROSITEiView protein in PROSITE
PS51414 HSR, 1 hit
PS50864 SAND, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAIRE_MOUSE
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Z0E3
Secondary accession number(s): Q9JLW0
, Q9JLW1, Q9JLW2, Q9JLW3, Q9JLW4, Q9JLW5, Q9JLW6, Q9JLW7, Q9JLW8, Q9JLW9, Q9JLX0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: May 1, 1999
Last modified: October 16, 2019
This is version 155 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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