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    Abtb1 ankyrin repeat and BTB domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 80283, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Abtb1provided by MGI
    Official Full Name
    ankyrin repeat and BTB domain containing 1provided by MGI
    Primary source
    MGI:MGI:1933148
    See related
    Ensembl:ENSMUSG00000030083 AllianceGenome:MGI:1933148
    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
    BPOZ; EF1ABP
    Summary
    Predicted to enable translation elongation factor activity. Predicted to be involved in translational elongation. Predicted to be located in cytosol; nucleolus; and plasma membrane. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in several structures, including central nervous system; ganglia; genitourinary system; sensory organ; and skeleton. Orthologous to human ABTB1 (ankyrin repeat and BTB domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 35.2), ovary adult (RPKM 26.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Abtb1 in Genome Data Viewer
    Location:
    6 D1; 6 39.6 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (88812896..88819334, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (88835914..88842375, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene kelch repeat and BTB (POZ) domain containing 12 Neighboring gene STARR-seq mESC enhancer starr_16585 Neighboring gene predicted gene, 26588 Neighboring gene monoglyceride lipase Neighboring gene STARR-positive B cell enhancer ABC_E10390 Neighboring gene predicted gene 15612 Neighboring gene podocalyxin-like 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:88836578-88836779 Neighboring gene STARR-positive B cell enhancer ABC_E2794 Neighboring gene minichromosome maintenance complex component 2

    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. BPOZ-2 Gene Delivery Ameliorates Alpha-Synucleinopathy in A53T Transgenic Mouse Model of Parkinson's Disease. Roy A, et al. Sci Rep, 2016 Feb 26. PMID 26916519, Free PMC Article
    2. Deficiency of BPOZ2 Decreases Liver Fibrosis After Chronic Carbon Tetrachloride Administration in Mice. Zhang F, et al. Int J Toxicol, 2015 Mar-Apr. PMID 25568138
    3. BPOZ-2 is a negative regulator of the NLPR3 inflammasome contributing to SARS-CoV-2-induced hyperinflammation. Li J, et al. Front Cell Infect Microbiol, 2023. PMID 36936774, Free PMC Article
    4. Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway. Unoki M, et al. Oncogene, 2001 Jul 27. PMID 11494141
    5. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. van der Zwaag B, et al. Genomics, 2005 Jul. PMID 15953540

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BPOZ-2 was involved in a protein-protein association with PINK1 and therefore could stimulate PINK1-dependent autophagic clearance of alpha-synuclein.
      Title: BPOZ-2 Gene Delivery Ameliorates Alpha-Synucleinopathy in A53T Transgenic Mouse Model of Parkinson's Disease.
    2. BPOZ-2 is a negative regulator of the NLPR3 inflammasome contributing to SARS-CoV-2-induced hyperinflammation.
      Title: BPOZ-2 is a negative regulator of the NLPR3 inflammasome contributing to SARS-CoV-2-induced hyperinflammation.
    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 (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC7237

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables translation elongation factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in translational elongation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and BTB/POZ domain-containing protein 1
    Names
    ankyrin repeat and BTB (POZ) domain containing 1
    mFLJ00331 protein

    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_001362152.2 → NP_001349081.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC153923
      Conserved Domains (3) summary
      cd18296
      Location:112 → 235
      BTB2_POZ_ABTB1_BPOZ1; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Ankyrin repeat and BTB/POZ domain-containing protein 1 (ABTB1)
      cd18497
      Location:234 → 305
      BACK_ABTB1_BPOZ; BACK (BTB and C-terminal Kelch) domain found in ankyrin repeat and BTB/POZ domain-containing protein 1 (ABTB1)
      cl38908
      Location:1 → 72
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    2. NM_001411474.1 → NP_001398403.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC153923

    3. NM_001411475.1 → NP_001398404.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC153923

    4. NM_001411476.1 → NP_001398405.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC153923

    5. NM_001411477.1 → NP_001398406.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC153923

    6. NM_001411478.1 → NP_001398407.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC153923

    7. NM_001411479.1 → NP_001398408.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC153923

    8. NM_001411480.1 → NP_001398409.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC153923

    9. NM_001411481.1 → NP_001398410.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC153923

    10. NM_001411482.1 → NP_001398411.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC153923

    11. NM_001411483.1 → NP_001398412.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC153923

    12. NM_030251.4 → NP_084527.2  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_084527.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC153923
      Consensus CDS
      CCDS20339.1
      UniProtKB/Swiss-Prot
      Q8C2K7, Q91XU4, Q99LJ2
      UniProtKB/TrEMBL
      A0A0R4J0A1
      Related
      ENSMUSP00000032169.6, ENSMUST00000032169.8
      Conserved Domains (5) summary
      smart00225
      Location:273 → 376
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:6 → 76
      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:105 → 210
      BTB; BTB/POZ domain
      pfam13857
      Location:21 → 76
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:35 → 60
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_155424.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate splice junctions compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC153923
      Related
      ENSMUST00000203137.3

    2. NR_177267.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153923

    3. NR_177268.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153923

    4. NR_177269.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153923

    5. NR_177270.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153923

    6. NR_177272.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153923

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      88812896..88819334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99LJ2.1 GenPept UniProtKB/Swiss-Prot:Q99LJ2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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