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    Kbtbd13 kelch repeat and BTB (POZ) domain containing 13 [ Mus musculus (house mouse) ]

    Gene ID: 74492, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Kbtbd13provided by MGI
    Official Full Name
    kelch repeat and BTB (POZ) domain containing 13provided by MGI
    Primary source
    MGI:MGI:1921742
    See related
    Ensembl:ENSMUSG00000054978 AllianceGenome:MGI:1921742
    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
    5430433E21Rik
    Summary
    Enables actin filament binding activity. Acts upstream of or within actin filament organization; regulation of the force of skeletal muscle contraction; and relaxation of skeletal muscle. Predicted to be located in Z disc. Used to study nemaline myopathy 6. Human ortholog(s) of this gene implicated in nemaline myopathy 6. Orthologous to human KBTBD13 (kelch repeat and BTB domain containing 13). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human all
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    Genomic context

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    See Kbtbd13 in Genome Data Viewer
    Location:
    9 C; 9 35.28 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (65295965..65299000, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (65388684..65391652, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_24452 Neighboring gene programmed cell death 7 Neighboring gene ubiquitin-associated protein 1-like Neighboring gene predicted gene, 17875 Neighboring gene RAS-like, family 12 Neighboring gene solute carrier family 51, beta subunit Neighboring gene STARR-positive B cell enhancer ABC_E6755 Neighboring gene STARR-positive B cell enhancer ABC_E2295 Neighboring gene mitochondrial methionyl-tRNA formyltransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. KBTBD13 is a novel cardiomyopathy gene. de Winter JM, et al. Hum Mutat, 2022 Dec. PMID 36335629, Free PMC Article
    2. KBTBD13 is an actin-binding protein that modulates muscle kinetics. de Winter JM, et al. J Clin Invest, 2020 Feb 3. PMID 31671076, Free PMC Article
    3. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    4. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KBTBD13 is a novel cardiomyopathy gene.
      Title: KBTBD13 is a novel cardiomyopathy gene.
    2. KBTBD13 is an actin-binding protein that modulates muscle kinetics.
      Title: KBTBD13 is an actin-binding protein that modulates muscle kinetics.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of the force of skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of the force of skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of the force of skeletal muscle contraction ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in relaxation of skeletal muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within relaxation of skeletal muscle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within relaxation of skeletal muscle ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in myofibril ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch repeat and BTB domain-containing protein 13

    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_028974.2 → NP_083250.1  kelch repeat and BTB domain-containing protein 13

      See identical proteins and their annotated locations for NP_083250.1

      Status: VALIDATED

      Source sequence(s)
      AC114645
      Consensus CDS
      CCDS57682.1
      UniProtKB/Swiss-Prot
      Q8C828
      UniProtKB/TrEMBL
      A4VCI8
      Related
      ENSMUSP00000136872.2, ENSMUST00000068307.4
      Conserved Domains (3) summary
      smart00225
      Location:13 → 100
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:202 → 244
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:247 → 292
      Kelch_1; Kelch motif

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      65295965..65299000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C828.2 GenPept UniProtKB/Swiss-Prot:Q8C828

    Gene LinkOut

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

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