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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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See KBTBD6 in Genome Data Viewer
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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