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    KBTBD13 kelch repeat and BTB domain containing 13 [ Homo sapiens (human) ]

    Gene ID: 390594, updated on 5-Mar-2024

    Summary

    Official Symbol
    KBTBD13provided by HGNC
    Official Full Name
    kelch repeat and BTB domain containing 13provided by HGNC
    Primary source
    HGNC:HGNC:37227
    See related
    Ensembl:ENSG00000234438 MIM:613727; AllianceGenome:HGNC:37227
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEM6; HCG1645727
    Summary
    The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]
    Orthologs
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    Genomic context

    See KBTBD13 in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65076746..65079948)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62886164..62889366)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65369084..65372286)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene transmembrane protein 126A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65346770-65347270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65347271-65347771 Neighboring gene SLC51 subunit beta Neighboring gene RAS like family 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65363995-65364494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65377155-65377680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65378209-65378734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65379400-65380041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65385262-65385762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65386379-65386880 Neighboring gene ubiquitin associated protein 1 like Neighboring gene programmed cell death 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6552

    Genomic regions, transcripts, and products

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin filament organization IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    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 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    kelch repeat and BTB domain-containing protein 13
    Names
    kelch repeat and BTB (POZ) domain containing 13
    nemaline myopathy type 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.

    Genomic

    1. NG_021411.1 RefSeqGene

      Range
      5001..8123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_682

    mRNA and Protein(s)

    1. NM_001101362.3NP_001094832.1  kelch repeat and BTB domain-containing protein 13

      See identical proteins and their annotated locations for NP_001094832.1

      Status: REVIEWED

      Source sequence(s)
      AC013553
      Consensus CDS
      CCDS45281.1
      UniProtKB/Swiss-Prot
      C9JR72
      Related
      ENSP00000388723.2, ENST00000432196.5
      Conserved Domains (4) summary
      smart00225
      Location:13101
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:202244
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:247292
      Kelch_1; Kelch motif
      cl02518
      Location:7101
      BTB; BTB/POZ domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      65076746..65079948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      62886164..62889366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)