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    Kbtbd12 kelch repeat and BTB (POZ) domain containing 12 [ Mus musculus (house mouse) ]

    Gene ID: 74589, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Kbtbd12provided by MGI
    Official Full Name
    kelch repeat and BTB (POZ) domain containing 12provided by MGI
    Primary source
    MGI:MGI:1918481
    See related
    Ensembl:ENSMUSG00000033182 AllianceGenome:MGI:1918481
    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
    Klhdc6; 4833415F11Rik; 4933428M03Rik
    Summary
    Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in brain. Orthologous to human KBTBD12 (kelch repeat and BTB domain containing 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart adult (RPKM 4.7), mammary gland adult (RPKM 1.7) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Kbtbd12 in Genome Data Viewer
    Location:
    6 D1; 6 39.51 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (88521931..88604636, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (88545079..88627691, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RuvB-like AAA ATPase 1 Neighboring gene predicted gene, 46965 Neighboring gene SEC61 translocon subunit alpha 1 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 ankyrin repeat and BTB domain containing 1

    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. 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
    2. USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities. Liu C, et al. Sci Adv, 2023 May 19. PMID 37196079, Free PMC Article
    3. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article

    See all (15) 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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    kelch repeat and BTB domain-containing protein 12
    Names
    kelch domain containing 6

    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_001278671.2 → NP_001265600.1  kelch repeat and BTB domain-containing protein 12

      See identical proteins and their annotated locations for NP_001265600.1

      Status: VALIDATED

      Source sequence(s)
      AC154038, AK014702, AK016973
      Consensus CDS
      CCDS51842.2
      UniProtKB/Swiss-Prot
      E9QJU5, Q9D618
      Related
      ENSMUSP00000112581.2, ENSMUST00000120933.5
      Conserved Domains (6) summary
      smart00612
      Location:435 → 489
      Kelch; Kelch domain
      PHA03098
      Location:27 → 584
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:373 → 420
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:20 → 122
      BTB; BTB/POZ domain
      pfam01344
      Location:481 → 532
      Kelch_1; Kelch motif
      pfam07707
      Location:131 → 233
      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
      88521931..88604636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030255648.2 → XP_030111508.1  kelch repeat and BTB domain-containing protein 12 isoform X2

      Conserved Domains (2) summary
      PHA03098
      Location:23 → 192
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:36 → 85
      Kelch; KELCH repeat [structural motif]

    2. XM_036152374.1 → XP_036008267.1  kelch repeat and BTB domain-containing protein 12 isoform X1

      Conserved Domains (4) summary
      PHA03098
      Location:27 → 559
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:373 → 420
      Kelch; KELCH repeat [structural motif]
      cd18276
      Location:8 → 134
      BTB_POZ_KBTBD12; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)
      cd18485
      Location:126 → 224
      BACK_KBTBD12; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001142724.1: Suppressed sequence

      Description
      NM_001142724.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_029013.2: Suppressed sequence

      Description
      NM_029013.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D618.3 GenPept UniProtKB/Swiss-Prot:Q9D618

    Gene LinkOut

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

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