Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 11634, updated on 27-Jun-2015
    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
    Orthologs
    See Aire in Epigenomics, MapViewer
    Location:
    10 C1; 10 39.72 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    105 current GRCm38.p3 (GCF_000001635.23) 10 NC_000076.6 (78030022..78043610, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (77492776..77506325, 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?

    Markers

    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 polyendocrinopathy candidiasis ectodermal dystrophy protein homolog
    autoimmune regulator AIRE1a

    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
      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 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, OTTMUSP00000046742, ENSMUST00000145975, OTTMUST00000086344
      Conserved Domains (4) summary
      smart00258
      Location:198264
      SAND; SAND domain
      pfam03172
      Location:17107
      Sp100; Sp100 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)
    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, 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 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
      UniProtKB/Swiss-Prot
      Q9Z0E3
      Related
      ENSMUSP00000117094, OTTMUSP00000046747, ENSMUST00000154374, OTTMUST00000086349
      Conserved Domains (4) summary
      pfam03172
      Location:17107
      Sp100; Sp100 domain
      cl02536
      Location:198264
      SAND; SAND domain
      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)
    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, OTTMUSP00000046753, ENSMUST00000105396, OTTMUST00000086355
      Conserved Domains (4) summary
      pfam03172
      Location:17107
      Sp100; Sp100 domain
      cl02536
      Location:198264
      SAND; SAND domain
      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)
    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
      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 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, OTTMUSP00000046744, ENSMUST00000155021, OTTMUST00000086346
      Conserved Domains (4) summary
      pfam03172
      Location:17107
      Sp100; Sp100 domain
      cl02536
      Location:198264
      SAND; SAND domain
      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)
    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, OTTMUSP00000046751, ENSMUST00000105395, OTTMUST00000086353
      Conserved Domains (4) summary
      pfam03172
      Location:17107
      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 ...
      cd15539
      Location:300342
      PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    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, OTTMUSP00000046752, ENSMUST00000156417, OTTMUST00000086354
      Conserved Domains (4) summary
      pfam03172
      Location:17107
      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 ...
      cd15539
      Location:299341
      PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    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, OTTMUSP00000046746, ENSMUST00000148469, OTTMUST00000086348
      Conserved Domains (4) summary
      pfam03172
      Location:17107
      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 ...
      cd15539
      Location:296338
      PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    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, OTTMUSP00000046745, ENSMUST00000140636, OTTMUST00000086347
      Conserved Domains (4) summary
      pfam03172
      Location:17107
      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 ...
      cd15539
      Location:295337
      PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    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/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
      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)

    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 105

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

    Reference GRCm38.p3 C57BL/6J

    Genomic

    1. NC_000076.6 Reference GRCm38.p3 C57BL/6J

      Range
      78030022..78043610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011243277.1XP_011241579.1  

      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)

    Alternate Mm_Celera

    Genomic

    1. AC_000032.1 Alternate Mm_Celera

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