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    KBTBD6 kelch repeat and BTB domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 89890, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KBTBD6provided by HGNC
    Official Full Name
    kelch repeat and BTB domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:25340
    See related
    Ensembl:ENSG00000165572 MIM:617738; AllianceGenome:HGNC:25340
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Involved in proteasome-mediated ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination; and regulation of Rac protein signal transduction. Located in cytoplasm and nucleus. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    all
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    Genomic context

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    Location:
    13q14.11
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (41127569..41132802, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (40346698..40351926, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41701705..41706938, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene microRNA 3168 Neighboring gene RNA, 7SL, cytoplasmic 597, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7626 Neighboring gene KBTBD6 divergent transcript Neighboring gene calmodulin 2 pseudogene 3 Neighboring gene small nucleolar RNA U13

    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. The KBTBD6/7-DRD2 axis regulates pituitary adenoma sensitivity to dopamine agonist treatment. Liu YT, et al. Acta Neuropathol, 2020 Sep. PMID 32572597
    2. Regulation of Wnt/PCP signaling through p97/VCP-KBTBD7-mediated Vangl ubiquitination and endoplasmic reticulum-associated degradation. Feng D, et al. Sci Adv, 2021 May. PMID 33990333, Free PMC Article
    3. CUL3-KBTBD6/KBTBD7 ubiquitin ligase cooperates with GABARAP proteins to spatially restrict TIAM1-RAC1 signaling. Genau HM, et al. Mol Cell, 2015 Mar 19. PMID 25684205
    4. Dimerization quality control ensures neuronal development and survival. Mena EL, et al. Science, 2018 Oct 12. PMID 30190310
    5. A targeted proteomic analysis of the ubiquitin-like modifier nedd8 and associated proteins. Jones J, et al. J Proteome Res, 2008 Mar. PMID 18247557, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KBTBD6 and KBTBD7 specifically bind to GABARAP proteins.KBTBD6 and KBTBD7 form a heterodimeric CRL3 complex.
      Title: CUL3-KBTBD6/KBTBD7 ubiquitin ligase cooperates with GABARAP proteins to spatially restrict TIAM1-RAC1 signaling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ58260, DKFZp547M073, DKFZp547E1912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of Rac protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch repeat and BTB domain-containing protein 6
    Names
    kelch repeat and BTB (POZ) 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_152903.5 → NP_690867.3  kelch repeat and BTB domain-containing protein 6

      See identical proteins and their annotated locations for NP_690867.3

      Status: VALIDATED

      Source sequence(s)
      AL354696
      Consensus CDS
      CCDS9376.1
      UniProtKB/Swiss-Prot
      Q5T6Y8, Q86V97, Q8N8L0, Q8NDM5, Q96MP6
      UniProtKB/TrEMBL
      B4DS93
      Related
      ENSP00000368799.1, ENST00000379485.2
      Conserved Domains (4) summary
      PHA03098
      Location:55 → 553
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:425 → 471
      Kelch; KELCH repeat [structural motif]
      cd18273
      Location:37 → 178
      BTB_POZ_KBTBD6_7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing proteins KBTBD6 and KBTBD7
      cd18482
      Location:168 → 270
      BACK_KBTBD6_7; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing proteins, KBTBD6 and KBTBD7

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      41127569..41132802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      40346698..40351926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86V97.1 GenPept UniProtKB/Swiss-Prot:Q86V97

    Gene LinkOut

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

    Chemical Information
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