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Aire autoimmune regulator [ Mus musculus (house mouse) ]

Gene ID: 11634, updated on 9-Jul-2024

Summary

Official Symbol
Aireprovided by MGI
Official Full Name
autoimmune regulatorprovided by MGI
Primary source
MGI:MGI:1338803
See related
Ensembl:ENSMUSG00000000731 AllianceGenome:MGI:1338803
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables identical protein binding activity. Involved in immune system development; positive regulation of chemokine production; and regulation of thymocyte migration. Acts upstream of or within humoral immune response; negative thymic T cell selection; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nuclear body. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study Guillain-Barre syndrome; Sjogren's syndrome; and autoimmune polyendocrine syndrome type 1. Human ortholog(s) of this gene implicated in autoimmune polyendocrine syndrome and autoimmune polyendocrine syndrome type 1. Orthologous to human AIRE (autoimmune regulator). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in thymus adult (RPKM 20.4), spleen adult (RPKM 1.4) and 1 other tissue See more
Orthologs
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Genomic context

See Aire in Genome Data Viewer
Location:
10 C1; 10 39.72 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (77865856..77879444, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (78030022..78043610, complement)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9033 Neighboring gene cilia and flagella associated protein 410 Neighboring gene phosphofructokinase, liver, B-type Neighboring gene STARR-positive B cell enhancer ABC_E5151 Neighboring gene STARR-seq mESC enhancer starr_27212 Neighboring gene STARR-seq mESC enhancer starr_27213 Neighboring gene STARR-seq mESC enhancer starr_27214 Neighboring gene STARR-seq mESC enhancer starr_27215 Neighboring gene DNA methyltransferase 3-like Neighboring gene predicted gene, 51775 Neighboring gene icos ligand Neighboring gene STARR-positive B cell enhancer ABC_E5152 Neighboring gene STARR-positive B cell enhancer ABC_E6876 Neighboring gene STARR-positive B cell enhancer ABC_E2328 Neighboring gene predicted gene, 47922

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC123374, MGC123375

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables histone binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables translation regulator activity IEA
Inferred from Electronic Annotation
more info
 
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in central tolerance induction to self antigen IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in central tolerance induction to self antigen ISO
Inferred from Sequence Orthology
more info
 
involved_in humoral immune response IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within humoral immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative thymic T cell selection IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within negative thymic T cell selection IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in peripheral T cell tolerance induction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in peripheral T cell tolerance induction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of chemokine production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of thymocyte migration IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of thymocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in thymus epithelium morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in thymus epithelium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in female germ cell nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular anatomical structure IDA
Inferred from Direct Assay
more info
PubMed 
located_in male germ cell nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
autoimmune regulator
Names
APECED protein homolog
autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
autoimmune regulator AIRE1a

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271549.1NP_001258478.1  autoimmune regulator isoform 2

    See identical proteins and their annotated locations for NP_001258478.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the coding region compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 1b. It encodes isoform 2 which is shorter than isoform 1 by one amino acid.
    Source sequence(s)
    AF128115, AJ243821, AK153690
    Consensus CDS
    CCDS70053.1
    UniProtKB/TrEMBL
    Q3ZB65
    Related
    ENSMUSP00000019257.9, ENSMUST00000019257.15
    Conserved Domains (4) summary
    smart00258
    Location:198264
    SAND; SAND domain
    cd15539
    Location:299341
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:432474
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
  2. NM_001271550.1NP_001258479.1  autoimmune regulator isoform 3

    See identical proteins and their annotated locations for NP_001258479.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame donor splice site in the coding region compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 1c. It encodes isoform 3 which is shorter than isoform 1 by four amino acids.
    Source sequence(s)
    AF128116, AJ243821, AK153690
    Consensus CDS
    CCDS70060.1
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000120150.2, ENSMUST00000145975.8
    Conserved Domains (4) summary
    smart00258
    Location:198264
    SAND; SAND domain
    cd15539
    Location:296338
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:429471
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
  3. NM_001271551.1NP_001258480.1  autoimmune regulator isoform 4

    See identical proteins and their annotated locations for NP_001258480.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses two alternate in-frame splice sites in the coding region compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 1d. It encodes isoform 4 which is shorter than isoform 1.
    Source sequence(s)
    AF128117, AJ243821, AK153690
    Consensus CDS
    CCDS70058.1
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000122659.2, ENSMUST00000130972.8
    Conserved Domains (4) summary
    smart00258
    Location:198264
    SAND; SAND domain
    cd15539
    Location:295337
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:428470
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
  4. NM_001271552.1NP_001258481.1  autoimmune regulator isoform 5

    See identical proteins and their annotated locations for NP_001258481.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the coding region compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 2a. It encodes isoform 5 which is shorter than isoform 1.
    Source sequence(s)
    AF128118, AJ243821, AK153690
    Consensus CDS
    CCDS70055.1
    UniProtKB/TrEMBL
    Q3ZB71
    Related
    ENSMUSP00000117094.2, ENSMUST00000154374.2
    Conserved Domains (4) summary
    cd15539
    Location:300342
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:374416
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
    cl02536
    Location:198264
    SAND; SAND domain
  5. NM_001271553.1NP_001258482.1  autoimmune regulator isoform 6

    See identical proteins and their annotated locations for NP_001258482.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon and uses an alternate in-frame acceptor splice site in the coding region compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 2b. It encodes isoform 6 which is shorter than isoform 1.
    Source sequence(s)
    AF128119, AJ243821, AK153690
    Consensus CDS
    CCDS70052.1
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000101035.3, ENSMUST00000105396.9
    Conserved Domains (4) summary
    cd15539
    Location:299341
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:373415
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
    cl02536
    Location:198264
    SAND; SAND domain
  6. NM_001271554.1NP_001258483.1  autoimmune regulator isoform 7

    See identical proteins and their annotated locations for NP_001258483.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon and uses an alternate in-frame donor splice site in the coding region compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 2c. It encodes isoform 7 which is shorter than isoform 1.
    Source sequence(s)
    AF128120, AJ243821, AK153690
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Conserved Domains (4) summary
    cd15539
    Location:296338
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:370412
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
    cl02536
    Location:198264
    SAND; SAND domain
  7. NM_001271555.1NP_001258484.1  autoimmune regulator isoform 8

    See identical proteins and their annotated locations for NP_001258484.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate in-frame exon and uses two alternate in-frame splice sites in the coding region compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 2d. It encodes isoform 8 which is shorter than isoform 1.
    Source sequence(s)
    AF128121, AJ243821, AK153690
    Consensus CDS
    CCDS70057.1
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000122190.2, ENSMUST00000155021.8
    Conserved Domains (4) summary
    cd15539
    Location:295337
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:369411
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
    cl02536
    Location:198264
    SAND; SAND domain
  8. NM_001271556.1NP_001258485.1  autoimmune regulator isoform 9

    See identical proteins and their annotated locations for NP_001258485.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) lacks two alternate exons in the coding region, which results in a translational frameshift, compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 3a. The resulting protein (isoform 9) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF128122, AJ243821, AK153690
    Consensus CDS
    CCDS70054.1
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000101034.3, ENSMUST00000105395.9
    Conserved Domains (4) summary
    cd15539
    Location:300342
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
    cl02536
    Location:198264
    SAND; SAND domain
    cl02608
    Location:320395
    BAH; BAH, or Bromo Adjacent Homology domain (also called ELM1 and BAM for Bromo Adjacent Motif). BAH domains have first been described as domains found in the polybromo protein and Yeast Rsc1/Rsc2 (Remodeling of the Structure of Chromatin). They also occur in ...
  9. NM_001271557.1NP_001258486.1  autoimmune regulator isoform 10

    See identical proteins and their annotated locations for NP_001258486.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) uses an alternate in-frame acceptor splice site and lacks two alternate exons in the coding region, which results in a translational frameshift, compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 3b. The resulting protein (isoform 10) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF128123, AJ243821, AK153690
    Consensus CDS
    CCDS70051.1
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000115162.2, ENSMUST00000156417.8
    Conserved Domains (4) summary
    cd15539
    Location:299341
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
    cl02536
    Location:198264
    SAND; SAND domain
    cl02608
    Location:319394
    BAH; BAH, or Bromo Adjacent Homology domain (also called ELM1 and BAM for Bromo Adjacent Motif). BAH domains have first been described as domains found in the polybromo protein and Yeast Rsc1/Rsc2 (Remodeling of the Structure of Chromatin). They also occur in ...
  10. NM_001271558.1NP_001258487.1  autoimmune regulator isoform 11

    See identical proteins and their annotated locations for NP_001258487.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) uses an alternate in-frame donor splice site and lacks two alternate exons in the coding region, which results in a translational frameshift, compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 3c. The resulting protein (isoform 11) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF128124, AJ243821, AK153690
    Consensus CDS
    CCDS70059.1
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000118317.2, ENSMUST00000148469.8
    Conserved Domains (4) summary
    cd15539
    Location:296338
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
    cl02536
    Location:198264
    SAND; SAND domain
    cl02608
    Location:316391
    BAH; BAH, or Bromo Adjacent Homology domain (also called ELM1 and BAM for Bromo Adjacent Motif). BAH domains have first been described as domains found in the polybromo protein and Yeast Rsc1/Rsc2 (Remodeling of the Structure of Chromatin). They also occur in ...
  11. NM_001271559.1NP_001258488.1  autoimmune regulator isoform 12

    See identical proteins and their annotated locations for NP_001258488.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) uses two alternate in-frame splice sites and lacks two alternate exons in the coding region, which results in a translational frameshift, compared to variant 1. PubMed ID 10550218 supports this variant and calls it Aire 3d. The resulting protein (isoform 12) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF128125, AJ243821, AK153690
    Consensus CDS
    CCDS70056.1
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000121477.2, ENSMUST00000140636.8
    Conserved Domains (4) summary
    cd15539
    Location:295337
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain
    cl02536
    Location:198264
    SAND; SAND domain
    cl02608
    Location:315390
    BAH; BAH, or Bromo Adjacent Homology domain (also called ELM1 and BAM for Bromo Adjacent Motif). BAH domains have first been described as domains found in the polybromo protein and Yeast Rsc1/Rsc2 (Remodeling of the Structure of Chromatin). They also occur in ...
  12. NM_009646.2NP_033776.1  autoimmune regulator isoform 1

    See identical proteins and their annotated locations for NP_033776.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF079536, AJ243821, AK153690
    Consensus CDS
    CCDS23961.1
    UniProtKB/Swiss-Prot
    Q9JLW0, Q9JLW1, Q9JLW2, Q9JLW3, Q9JLW4, Q9JLW5, Q9JLW6, Q9JLW7, Q9JLW8, Q9JLW9, Q9JLX0, Q9Z0E3
    UniProtKB/TrEMBL
    B2MVU6
    Related
    ENSMUSP00000114904.2, ENSMUST00000128241.8
    Conserved Domains (4) summary
    smart00258
    Location:198264
    SAND; SAND domain
    cd15539
    Location:300342
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:433475
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam03172
    Location:17103
    Sp100; Sp100 domain

RNA

  1. NR_073358.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13) uses an alternate acceptor splice site in an internal exon and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC153507
    Related
    ENSMUST00000143735.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    77865856..77879444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011243277.1XP_011241579.1  autoimmune regulator isoform X1

    Conserved Domains (2) summary
    cd15539
    Location:2466
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:157199
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)