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

Gene ID: 80283, updated on 27-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
  • 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

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