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    Kbtbd8 kelch repeat and BTB (POZ) domain containing 8 [ Mus musculus (house mouse) ]

    Gene ID: 243574, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Kbtbd8provided by MGI
    Official Full Name
    kelch repeat and BTB (POZ) domain containing 8provided by MGI
    Primary source
    MGI:MGI:2661430
    See related
    Ensembl:ENSMUSG00000030031 AllianceGenome:MGI:2661430
    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
    Takrp; SSEC51; SSEC-51; mKIAA1842
    Summary
    Predicted to be involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Predicted to act upstream of or within regulation of translation. Predicted to be located in Golgi apparatus and cytoskeleton. Predicted to be part of Cul3-RING ubiquitin ligase complex. Is expressed in forelimb bud and genitourinary system. Orthologous to human KBTBD8 (kelch repeat and BTB domain containing 8). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in liver E14 (RPKM 2.0), CNS E11.5 (RPKM 1.6) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Kbtbd8 in Genome Data Viewer
    Location:
    6 D2; 6 44.32 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (95094861..95106774)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (95117880..95129793)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26501 Neighboring gene STARR-positive B cell enhancer ABC_E681 Neighboring gene kelch repeat and BTB (POZ) domain containing 8, opposite strand Neighboring gene STARR-seq mESC enhancer starr_16739 Neighboring gene suppressor of Ty 4 homolog 1 pseudogene Neighboring gene eukaryotic translation elongation factor 1 gamma 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
    • 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. Timely translation during the mouse oocyte-to-embryo transition. Oh B, et al. Development, 2000 Sep. PMID 10934024
    2. Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Lewandowski JP, et al. Dev Biol, 2015 Oct 1. PMID 26238476, Free PMC Article
    3. Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives. Tamplin OJ, et al. BMC Genomics, 2008 Oct 30. PMID 18973680, Free PMC Article
    4. Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo. Evsikov AV, et al. Genes Dev, 2006 Oct 1. PMID 17015433, Free PMC Article
    5. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC91215

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in neural crest cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neural crest formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein monoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kelch repeat and BTB domain-containing protein 8
    Names
    SSEC 51
    T-cell activation kelch repeat 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_001008785.5 → NP_001008785.2  kelch repeat and BTB domain-containing protein 8 isoform a

      See identical proteins and their annotated locations for NP_001008785.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK142080, BC088734, BF019958, CJ046115, DV653148
      Consensus CDS
      CCDS51856.1
      UniProtKB/Swiss-Prot
      Q3TJB2, Q3UQV5, Q5M7B2, Q8CH97
      Related
      ENSMUSP00000032107.8, ENSMUST00000032107.10
      Conserved Domains (6) summary
      smart00612
      Location:335 → 386
      Kelch; Kelch domain
      PHA03098
      Location:50 → 514
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:328 → 374
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:39 → 144
      BTB; BTB/POZ domain
      pfam01344
      Location:377 → 426
      Kelch_1; Kelch motif
      pfam07707
      Location:153 → 250
      BACK; BTB And C-terminal Kelch

    2. NM_001102670.2 → NP_001096140.1  kelch repeat and BTB domain-containing protein 8 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK142080, AK167507, BF019958, CJ046115
      Consensus CDS
      CCDS51857.1
      UniProtKB/Swiss-Prot
      Q3UQV5
      Related
      ENSMUSP00000113739.2, ENSMUST00000119582.3
      Conserved Domains (5) summary
      smart00612
      Location:258 → 309
      Kelch; Kelch domain
      sd00038
      Location:251 → 297
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:1 → 67
      BTB; BTB/POZ domain
      pfam01344
      Location:300 → 349
      Kelch_1; Kelch motif
      pfam07707
      Location:76 → 173
      BACK; BTB And C-terminal Kelch

    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
      95094861..95106774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UQV5.1 GenPept UniProtKB/Swiss-Prot:Q3UQV5

    Gene LinkOut

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

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