Mouse Gene Aire (ENSMUST00000105396.8) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Mus musculus autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) (Aire), transcript variant 6, mRNA. (from RefSeq NM_001271553)
Gencode Transcript: ENSMUST00000105396.8
Gencode Gene: ENSMUSG00000000731.15
Transcript (Including UTRs)
   Position: mm10 chr10:78,030,031-78,043,580 Size: 13,550 Total Exon Count: 13 Strand: -
Coding Region
   Position: mm10 chr10:78,030,244-78,043,523 Size: 13,280 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2019-09-19

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:78,030,031-78,043,580)mRNA (may differ from genome)Protein (492 aa)
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-  Comments and Description Text from UniProtKB
  ID: AIRE_MOUSE
DESCRIPTION: RecName: Full=Autoimmune regulator; AltName: Full=Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog; Short=APECED protein homolog;
FUNCTION: 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).
SUBUNIT: 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).
INTERACTION: Self; NbExp=4; IntAct=EBI-80858, EBI-80858;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly nuclear but also cytoplasmic. Found in nuclear body-like structures and in a filamentous vimentin-like pattern.
TISSUE SPECIFICITY: 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.
DOMAIN: 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).
DOMAIN: The L-X-X-L-L repeats may be implicated in binding to nuclear receptors.
DOMAIN: The N-terminal HSR domain is required for localization on tubular structures (By similarity).
PTM: Phosphorylated.
SIMILARITY: Contains 1 HSR domain.
SIMILARITY: Contains 2 PHD-type zinc fingers.
SIMILARITY: Contains 1 SAND domain.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.9057-0.472 Picture PostScript Text
3' UTR -86.60213-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
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

Pfam Domains:
PF00628 - PHD-finger
PF01342 - SAND domain
PF03172 - Sp100 domain

SCOP Domains:
48695 - Multiheme cytochromes
63763 - SAND domain-like
57850 - RING/U-box
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q9Z0E3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
GenBankRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003712 transcription cofactor activity
GO:0008270 zinc ion binding
GO:0042393 histone binding
GO:0042802 identical protein binding
GO:0044212 transcription regulatory region DNA binding
GO:0045182 translation regulator activity
GO:0046872 metal ion binding

Biological Process:
GO:0002458 peripheral T cell tolerance induction
GO:0002509 central tolerance induction to self antigen
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006417 regulation of translation
GO:0006959 humoral immune response
GO:0032602 chemokine production
GO:0045060 negative thymic T cell selection
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0097536 thymus epithelium morphogenesis
GO:2000410 regulation of thymocyte migration

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016604 nuclear body


-  Descriptions from all associated GenBank mRNAs
  AJ243821 - Mus musculus mRNA for APECED protein (AIRE gene).
AK131938 - Mus musculus ES cells cDNA, RIKEN full-length enriched library, clone:2410013G21 product:autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy), full insert sequence.
AK153690 - Mus musculus 3 days neonate thymus cDNA, RIKEN full-length enriched library, clone:A630047M03 product:autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy), full insert sequence.
AF079536 - Mus musculus autoimmune regulator (Aire) mRNA, complete cds.
AF128115 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 1b, complete cds.
AF128116 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 1c, complete cds.
AF128117 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 1d, complete cds.
AF128118 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 2a, complete cds.
AF128119 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 2b, complete cds.
AF128120 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 2c, complete cds.
AF128121 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 2d, complete cds.
AF128122 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 3a, complete cds.
AF128123 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 3b, complete cds.
AF128124 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 3c, complete cds.
AF128125 - Mus musculus autoimmune regulator (Aire) mRNA, alternatively spliced product 3d, complete cds.
BC103510 - Mus musculus autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy), mRNA (cDNA clone MGC:123375 IMAGE:40039055), complete cds.
BC103511 - Mus musculus autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy), mRNA (cDNA clone MGC:123374 IMAGE:40039054), complete cds.
BC103518 - Mus musculus autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy), mRNA (cDNA clone MGC:123376 IMAGE:40039058), complete cds.
EU625343 - Mus musculus strain Swiss Albino autoimmune regulator AIRE1a mRNA, complete cds.
JF267399 - Mus musculus strain Swiss Albino AIRE mRNA, complete cds.
AJ132243 - Mus musculus mRNA for Aire protein.
AF128772 - Mus musculus strain SJL autoimmune regulator (Aire) mRNA, partial cds.
AF128773 - Mus musculus strain NOD autoimmune regulator (Aire) mRNA, partial cds.
BC068026 - Mus musculus cDNA clone IMAGE:1282549, containing frame-shift errors.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
mmu04120 - Ubiquitin mediated proteolysis
mmu05340 - Primary immunodeficiency

-  Other Names for This Gene
  Alternate Gene Symbols: AIRE_MOUSE, NM_001271553, Q9JLW0, Q9JLW1, Q9JLW2, Q9JLW3, Q9JLW4, Q9JLW5, Q9JLW6, Q9JLW7, Q9JLW8, Q9JLW9, Q9JLX0, Q9Z0E3, uc007fwu.1, uc007fwu.2, uc007fwu.3
UCSC ID: uc007fwu.3
RefSeq Accession: NM_001271553
Protein: Q9Z0E3 (aka AIRE_MOUSE)
CCDS: CCDS70052.1, CCDS70055.1, CCDS70057.1

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.