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Aire autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) [ Mus musculus (house mouse) ]

Gene ID: 11634, updated on 19-Dec-2014
Official Symbol
Aireprovided by MGI
Official Full Name
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)provided by MGI
Primary source
MGI:MGI:1338803
See related
Ensembl:ENSMUSG00000000731; Vega:OTTMUSG00000034126
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
See Aire in Epigenomics, MapViewer
Location:
10 C1; 10 39.72 cM
Exon count:
16
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) 10 NC_000076.6 (78025542..78043706, complement)

Chromosome 10 - NC_000076.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1810043G02 gene Neighboring gene phosphofructokinase, liver, B-type Neighboring gene DNA (cytosine-5-)-methyltransferase 3-like Neighboring gene predicted gene, 29996 Neighboring gene icos ligand Neighboring gene predicted gene, 30039

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Primary immunodeficiency, organism-specific biosystem (from KEGG)
    Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Primary immunodeficiency, conserved biosystem (from KEGG)
    Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Markers

Homology

Clone Names

  • MGC123374, MGC123375

Gene Ontology Provided by MGI

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
chromatin binding ISO
Inferred from Sequence Orthology
more info
 
histone binding ISO
Inferred from Sequence Orthology
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region DNA binding ISO
Inferred from Sequence Orthology
more info
 
translation regulator activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
autoimmune regulator
Names
autoimmune regulator
APECED protein homolog
autoimmune regulator AIRE1a
autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog

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 proteins identical to 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
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000019257, OTTMUSP00000046749, ENSMUST00000019257, OTTMUST00000086351
    Conserved Domains (4) summary
    smart00258
    Location:198264
    SAND; SAND domain
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    smart00249
    Location:432474
    PHD; PHD zinc finger
    pfam00628
    Location:300341
    PHD; PHD-finger
  2. NM_001271550.1NP_001258479.1  autoimmune regulator isoform 3

    See proteins identical to 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, OTTMUSP00000046742, ENSMUST00000145975, OTTMUST00000086344
    Conserved Domains (4) summary
    smart00258
    Location:198264
    SAND; SAND domain
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    smart00249
    Location:429471
    PHD; PHD zinc finger
    pfam00628
    Location:297338
    PHD; PHD-finger
  3. NM_001271551.1NP_001258480.1  autoimmune regulator isoform 4

    See proteins identical to 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, OTTMUSP00000046743, ENSMUST00000130972, OTTMUST00000086345
    Conserved Domains (4) summary
    smart00258
    Location:198264
    SAND; SAND domain
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    smart00249
    Location:428470
    PHD; PHD zinc finger
    pfam00628
    Location:296337
    PHD; PHD-finger
  4. NM_001271552.1NP_001258481.1  autoimmune regulator isoform 5

    See proteins identical to 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
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000117094, OTTMUSP00000046747, ENSMUST00000154374, OTTMUST00000086349
    Conserved Domains (4) summary
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    smart00249
    Location:374416
    PHD; PHD zinc finger
    pfam00628
    Location:301342
    PHD; PHD-finger
    cl02536
    Location:198264
    SAND; SAND domain
  5. NM_001271553.1NP_001258482.1  autoimmune regulator isoform 6

    See proteins identical to 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, OTTMUSP00000046753, ENSMUST00000105396, OTTMUST00000086355
    Conserved Domains (4) summary
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    smart00249
    Location:373415
    PHD; PHD zinc finger
    pfam00628
    Location:300341
    PHD; PHD-finger
    cl02536
    Location:198264
    SAND; SAND domain
  6. NM_001271554.1NP_001258483.1  autoimmune regulator isoform 7

    See proteins identical to 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
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    smart00249
    Location:370412
    PHD; PHD zinc finger
    pfam00628
    Location:297338
    PHD; PHD-finger
    cl02536
    Location:198264
    SAND; SAND domain
  7. NM_001271555.1NP_001258484.1  autoimmune regulator isoform 8

    See proteins identical to 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, OTTMUSP00000046744, ENSMUST00000155021, OTTMUST00000086346
    Conserved Domains (4) summary
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    smart00249
    Location:369411
    PHD; PHD zinc finger
    pfam00628
    Location:296337
    PHD; PHD-finger
    cl02536
    Location:198264
    SAND; SAND domain
  8. NM_001271556.1NP_001258485.1  autoimmune regulator isoform 9

    See proteins identical to 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, OTTMUSP00000046751, ENSMUST00000105395, OTTMUST00000086353
    Conserved Domains (4) summary
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    pfam00628
    Location:301342
    PHD; PHD-finger
    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 proteins identical to 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, OTTMUSP00000046752, ENSMUST00000156417, OTTMUST00000086354
    Conserved Domains (4) summary
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    pfam00628
    Location:300341
    PHD; PHD-finger
    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 proteins identical to 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, OTTMUSP00000046746, ENSMUST00000148469, OTTMUST00000086348
    Conserved Domains (4) summary
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    pfam00628
    Location:297338
    PHD; PHD-finger
    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 proteins identical to 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, OTTMUSP00000046745, ENSMUST00000140636, OTTMUST00000086347
    Conserved Domains (4) summary
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    pfam00628
    Location:296337
    PHD; PHD-finger
    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 proteins identical to 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/TrEMBL
    B2MVU6
    UniProtKB/Swiss-Prot
    Q9Z0E3
    Related
    ENSMUSP00000114904, OTTMUSP00000046748, ENSMUST00000128241, OTTMUST00000086350
    Conserved Domains (4) summary
    smart00258
    Location:198264
    SAND; SAND domain
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    smart00249
    Location:433475
    PHD; PHD zinc finger
    pfam00628
    Location:301342
    PHD; PHD-finger

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

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

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

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000076.6 

    Range
    78025542..78043706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006513103.1XP_006513166.1  

    See proteins identical to XP_006513166.1

    UniProtKB/Swiss-Prot
    Q9Z0E3
    Conserved Domains (4) summary
    pfam03172
    Location:17107
    Sp100; Sp100 domain
    pfam00628
    Location:301342
    PHD; PHD-finger
    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 ...

Alternate Mm_Celera

Genomic

  1. AC_000032.1 

    Range
    79069025..79082610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)