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    Ciita class II transactivator [ Mus musculus (house mouse) ]

    Gene ID: 12265, updated on 12-May-2024

    Summary

    Official Symbol
    Ciitaprovided by MGI
    Official Full Name
    class II transactivatorprovided by MGI
    Primary source
    MGI:MGI:108445
    See related
    Ensembl:ENSMUSG00000022504 AllianceGenome:MGI:108445
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    C2ta; Gm9475; Mhc2ta; EG669998
    Summary
    This gene encodes a member of the NOD-like receptor protein family. This protein acts as a transcriptional coactivator and component of the enhanceosome complex to stimulate transcription of MHC class II genes in the adaptive immune response. This protein may also regulate the transcription of MHC class I genes. Mutations in the human gene have been linked to a rare immunodeficiency, bare lymphocyte syndrome, and homozygous knockout mice exhibit many features of this disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
    Expression
    Biased expression in spleen adult (RPKM 29.2), mammary gland adult (RPKM 10.6) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Ciita in Genome Data Viewer
    Location:
    16 A1; 16 5.65 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (10297877..10348928)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (10480014..10531064)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene nucleotide binding protein 1 Neighboring gene trans-golgi network vesicle protein 23A Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:10469529-10469712 Neighboring gene STARR-seq mESC enhancer starr_40087 Neighboring gene STARR-positive B cell enhancer mm9_chr16:10487992-10488292 Neighboring gene predicted gene, 41420 Neighboring gene predicted gene, 57630 Neighboring gene STARR-positive B cell enhancer ABC_E5523 Neighboring gene STARR-positive B cell enhancer ABC_E10887 Neighboring gene dexamethasone-induced transcript Neighboring gene C-type lectin domain family 16, member A Neighboring gene STARR-seq mESC enhancer starr_40088 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:10666979-10667180 Neighboring gene predicted gene, 52264 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:10668626-10668834 Neighboring gene predicted gene 15558

    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)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (3) 
    • Targeted (6)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC130299

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of viral entry into host cell ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of MHC class I biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of MHC class I biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of MHC class II biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of MHC class II biosynthetic process 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
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within response to antibiotic ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within response to type II interferon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to type II interferon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to type II interferon ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in PML body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    MHC class II transactivator
    NP_001230689.1
    NP_001230690.1
    NP_001289547.1
    NP_001289548.1
    NP_031601.1
    XP_006521787.1
    XP_006521789.1
    XP_011244112.1
    XP_036015649.1

    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_001243760.2NP_001230689.1  MHC class II transactivator isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 4. It encodes isoform 1, which is shorter than isoform 4.
      Source sequence(s)
      AI182240, AK138822, AK143956, AK153609, BC107330, BE850370
      UniProtKB/TrEMBL
      Q3UNW8
      Conserved Domains (4) summary
      cd00116
      Location:8131138
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:10101040
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:9811007
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:439608
      NACHT; NACHT domain
    2. NM_001243761.2NP_001230690.1  MHC class II transactivator isoform 3

      See identical proteins and their annotated locations for NP_001230690.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate start codon compared to variant 4. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 4.
      Source sequence(s)
      AF100710, AI182240, AK153609, BC107330, BE850370
      Consensus CDS
      CCDS88876.1
      UniProtKB/TrEMBL
      A0A2R8VHC7, Q3UU40
      Related
      ENSMUSP00000154946.2, ENSMUST00000230146.2
      Conserved Domains (3) summary
      cd00116
      Location:7341059
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00034
      Location:902930
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:360529
      NACHT; NACHT domain
    3. NM_001302618.1NP_001289547.1  MHC class II transactivator isoform 4

      See identical proteins and their annotated locations for NP_001289547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
      Source sequence(s)
      AI182240, AK138822, AK143956, AK153609, BC107330, BE850370
      Consensus CDS
      CCDS88875.1
      UniProtKB/Swiss-Prot
      O46787, O78036, O78109, P79621, Q31115, Q9TPP1
      UniProtKB/TrEMBL
      Q3UNW8
      Related
      ENSMUSP00000155517.2, ENSMUST00000230395.2
      Conserved Domains (4) summary
      cd00116
      Location:8141139
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:10111041
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:9821008
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:440609
      NACHT; NACHT domain
    4. NM_001302619.1NP_001289548.1  MHC class II transactivator isoform 5

      See identical proteins and their annotated locations for NP_001289548.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon compared to variant 4. It encodes isoform 5, which is shorter and has a distinct N-terminus, compared to isoform 4.
      Source sequence(s)
      AC122352, AI182240, AK138822, AK143956, AK153609, BC107330, BE850370
      Consensus CDS
      CCDS88877.1
      UniProtKB/TrEMBL
      Q3UU40
      Related
      ENSMUSP00000155002.2, ENSMUST00000230450.2
      Conserved Domains (4) summary
      cd00116
      Location:7131038
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00034
      Location:881909
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:339508
      NACHT; NACHT domain
      pfam17776
      Location:637742
      NLRC4_HD2; NLRC4 helical domain HD2
    5. NM_007575.4NP_031601.1  MHC class II transactivator isoform 2

      See identical proteins and their annotated locations for NP_031601.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate start codon compared to variant 4. It encodes isoform 2, which is shorter and has a distinct N-terminus, compared to isoform 4.
      Source sequence(s)
      AI182240, AK040723, AK153609, BC107330, BE850370
      Consensus CDS
      CCDS27950.1
      UniProtKB/TrEMBL
      Q3U2P0, Q3U5G4
      Related
      ENSMUSP00000023147.7, ENSMUST00000023147.8
      Conserved Domains (4) summary
      cd00116
      Location:7371062
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:934964
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:905931
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:363532
      NACHT; NACHT domain

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      10297877..10348928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521724.3XP_006521787.1  MHC class II transactivator isoform X1

      UniProtKB/TrEMBL
      Q3UNW8
      Conserved Domains (2) summary
      cd00116
      Location:8141045
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:440609
      NACHT; NACHT domain
    2. XM_006521726.4XP_006521789.1  MHC class II transactivator isoform X3

      UniProtKB/TrEMBL
      Q8HW99
      Conserved Domains (2) summary
      cd00116
      Location:8141045
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:440609
      NACHT; NACHT domain
    3. XM_011245810.4XP_011244112.1  MHC class II transactivator isoform X2

      See identical proteins and their annotated locations for XP_011244112.1

      UniProtKB/TrEMBL
      Q3UU40
      Conserved Domains (4) summary
      cd00116
      Location:7131038
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00034
      Location:881909
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:339508
      NACHT; NACHT domain
      pfam17776
      Location:637742
      NLRC4_HD2; NLRC4 helical domain HD2
    4. XM_036159756.1XP_036015649.1  MHC class II transactivator isoform X2

      UniProtKB/TrEMBL
      Q3UU40
      Conserved Domains (4) summary
      cd00116
      Location:7131038
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00034
      Location:881909
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:339508
      NACHT; NACHT domain
      pfam17776
      Location:637742
      NLRC4_HD2; NLRC4 helical domain HD2

    RNA

    1. XR_001781783.3 RNA Sequence