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    Aire autoimmune regulator [ Rattus norvegicus (Norway rat) ]

    Gene ID: 294328, updated on 9-Dec-2024

    Summary

    Official Symbol
    Aireprovided by RGD
    Official Full Name
    autoimmune regulatorprovided by RGD
    Primary source
    RGD:1311139
    See related
    EnsemblRapid:ENSRNOG00000001213 AllianceGenome:RGD:1311139
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable several functions, including histone binding activity; identical protein binding activity; and zinc ion binding activity. Predicted to be involved in several processes, including immune system development; negative thymic T cell selection; and positive regulation of macromolecule biosynthetic process. Predicted to be located in cytoplasm; germ cell nucleus; and nuclear body. Predicted to be active in nucleus. Used to study autoimmune polyendocrine syndrome. 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, Dec 2024]
    Expression
    Restricted expression toward (RPKM 9.3) See more
    Orthologs
    NEW
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    Genomic context

    See Aire in Genome Data Viewer
    Location:
    20p12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 20 NC_086038.1 (10635775..10650709)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 20 NC_051355.1 (10636058..10651060)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 20 NC_005119.4 (11365630..11380636)

    Chromosome 20 - NC_086038.1Genomic Context describing neighboring genes Neighboring gene inducible T-cell co-stimulator ligand Neighboring gene DNA methyltransferase 3 like Neighboring gene phosphofructokinase, liver type Neighboring gene cilia and flagella associated protein 410

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    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 ISO
    Inferred from Sequence Orthology
    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 biological_process ND
    No biological Data available
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peripheral T cell tolerance induction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in peripheral T cell tolerance induction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of chemokine production ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thymus epithelium morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in thymus epithelium morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in female germ cell nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in male germ cell nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    autoimmune regulator
    Names
    autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001106379.1NP_001099849.1  autoimmune regulator isoform 2

      See identical proteins and their annotated locations for NP_001099849.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473988
      UniProtKB/TrEMBL
      A6JK47
      Conserved Domains (4) summary
      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
      cl02536
      Location:198264
      SAND; SAND domain
    2. NM_001434617.1NP_001421546.1  autoimmune regulator isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000020
      UniProtKB/TrEMBL
      D3ZV49

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086038.1 Reference GRCr8

      Range
      10635775..10650709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006256247.4XP_006256309.1  autoimmune regulator isoform X1

      Related
      ENSRNOP00000001611.4, ENSRNOT00000001611.6
      Conserved Domains (4) summary
      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
      cl02536
      Location:198264
      SAND; SAND domain
    2. XM_063279044.1XP_063135114.1  autoimmune regulator isoform X4

      UniProtKB/TrEMBL
      A0A8I5ZTP2
      Related
      ENSRNOP00000082176.1, ENSRNOT00000106293.2
    3. XM_063279042.1XP_063135112.1  autoimmune regulator isoform X2

    4. XM_063279045.1XP_063135115.1  autoimmune regulator isoform X5

    5. XM_063279046.1XP_063135116.1  autoimmune regulator isoform X6

      UniProtKB/TrEMBL
      A6JK48
    6. XM_063279043.1XP_063135113.1  autoimmune regulator isoform X3

    7. XM_063279047.1XP_063135117.1  autoimmune regulator isoform X7

    8. XM_017601599.3XP_017457088.1  autoimmune regulator isoform X8

      UniProtKB/TrEMBL
      A0A8I6AL71
      Related
      ENSRNOP00000094625.1, ENSRNOT00000113259.2
    9. XM_063279048.1XP_063135118.1  autoimmune regulator isoform X9

    10. XM_017601601.3XP_017457090.1  autoimmune regulator isoform X10

      UniProtKB/TrEMBL
      A6JK49
      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:316377
      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. XM_063279049.1XP_063135119.1  autoimmune regulator isoform X11