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    Abtb3 ankyrin repeat and BTB domain containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 74007, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Abtb3provided by MGI
    Official Full Name
    ankyrin repeat and BTB domain containing 3provided by MGI
    Primary source
    MGI:MGI:1921257
    See related
    Ensembl:ENSMUSG00000020042 AllianceGenome:MGI:1921257
    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
    Also known as
    Btbd11; 6330404E16Rik
    Summary
    Enables PDZ domain binding activity. Acts upstream of or within exploration behavior; glutamatergic synaptic transmission; and protein stabilization. Located in glutamatergic synapse. Is expressed in central nervous system; dorsal root ganglion; genitourinary system; and thymus primordium. Orthologous to human ABTB3 (ankyrin repeat and BTB domain containing 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in cerebellum adult (RPKM 5.8), thymus adult (RPKM 5.8) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Abtb3 in Genome Data Viewer
    Location:
    10 C1; 10 41.65 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (85220835..85496156)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (85384971..85660292)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene proteasome subunit alpha 5, pseudogene Neighboring gene predicted gene, 34712 Neighboring gene predicted gene, 40730 Neighboring gene STARR-positive B cell enhancer mm9_chr10:84849290-84849591 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:84873931-84874114 Neighboring gene STARR-seq mESC enhancer starr_27441 Neighboring gene STARR-seq mESC enhancer starr_27446 Neighboring gene STARR-seq mESC enhancer starr_27448 Neighboring gene STARR-seq mESC enhancer starr_27449 Neighboring gene predicted gene, 40731 Neighboring gene STARR-seq mESC enhancer starr_27451 Neighboring gene STARR-seq mESC enhancer starr_27452 Neighboring gene predicted gene 6713 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. Btbd11 supports cell-type-specific synaptic function. Bygrave AM, et al. Cell Rep, 2023 Jun 27. PMID 37261953, Free PMC Article
    2. Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. Ryder E, et al. Mamm Genome, 2013 Aug. PMID 23912999, Free PMC Article
    3. Genome-wide microarray comparison reveals downstream genes of Pax6 in the developing mouse cerebellum. Ha TJ, et al. Eur J Neurosci, 2012 Oct. PMID 22817342, Free PMC Article
    4. TGF-β/Smad2/3 signaling directly regulates several miRNAs in mouse ES cells and early embryos. Redshaw N, et al. PLoS One, 2013. PMID 23390484, Free PMC Article
    5. Global gene expression analysis of murine limb development. Taher L, et al. PLoS One, 2011. PMID 22174793, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Btbd11 supports cell-type-specific synaptic function.
      Title: Btbd11 supports cell-type-specific synaptic function.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within synaptic transmission, glutamatergic IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and BTB/POZ domain-containing protein 3
    Names
    BTB (POZ) domain containing 11
    BTB/POZ domain-containing protein 11
    ankyrin repeat and BTB/POZ domain-containing protein BTBD11

    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_001017525.1 → NP_001017525.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several 5' exons but has an alternate 5' exon, as compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK039038, AK044022, BC072592, BY014645
      Consensus CDS
      CCDS36018.1
      UniProtKB/TrEMBL
      E9QJW1, Q8BRL1
      Related
      ENSMUSP00000100943.3, ENSMUST00000105306.3
      Conserved Domains (7) summary
      smart00225
      Location:460 → 558
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:134 → 287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00651
      Location:451 → 554
      BTB; BTB/POZ domain
      pfam12796
      Location:144 → 252
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:226 → 287
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:142 → 183
      ANK; ANK repeat [structural motif]
      cl06652
      Location:558 → 602
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

    2. NM_028709.2 → NP_082985.2  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_082985.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC072592, BC096535, BC141145
      Consensus CDS
      CCDS24091.2
      UniProtKB/Swiss-Prot
      Q6GQW0, Q6PCZ7, Q8CAD2, Q8CDA2, Q9D3B9
      UniProtKB/TrEMBL
      B2RUH2
      Related
      ENSMUSP00000100944.2, ENSMUST00000105307.8
      Conserved Domains (8) summary
      smart00225
      Location:929 → 1027
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:603 → 756
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00651
      Location:920 → 1023
      BTB; BTB/POZ domain
      pfam12796
      Location:613 → 721
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:585 → 629
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:611 → 652
      ANK; ANK repeat [structural motif]
      cl06652
      Location:1027 → 1071
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      cl23907
      Location:200 → 244
      H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...

    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
      85220835..85496156
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514230.4 → XP_006514293.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      H7BWX5
      Related
      ENSMUSP00000020231.4, ENSMUST00000020231.10
      Conserved Domains (5) summary
      COG5262
      Location:192 → 248
      HTA1; Histone H2A [Chromatin structure and dynamics]
      sd00045
      Location:611 → 652
      ANK; ANK repeat [structural motif]
      cd18351
      Location:785 → 915
      BTB_POZ_BTBD11; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 11 (BTBD11)
      cd18527
      Location:908 → 990
      BACK_BTBD11; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 11 (BTBD11)
      pfam12796
      Location:585 → 681
      Ank_2; Ankyrin repeats (3 copies)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6GQW0.2 GenPept UniProtKB/Swiss-Prot:Q6GQW0

    Gene LinkOut

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