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

Gene ID: 74007, updated on 28-Oct-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, Oct 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

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