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

Summary

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, Dec 2024]
Orthologs: all
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Genomic context

Location:: 13q14.11

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (41127569..41132802, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (40346698..40351926, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (41701705..41706938, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009B24 (e-PCR)
- UniSTS:28427

D8S2279 (e-PCR)
- UniSTS:473907

G59669 (e-PCR)
- UniSTS:136823

L17809 (e-PCR)
- UniSTS:39087

WIAF-2138 (e-PCR)
- UniSTS:21985

SHGC-31411 (e-PCR)
- UniSTS:38372

G32384 (e-PCR)
- UniSTS:116972

D13S642 (e-PCR)
- UniSTS:149747

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

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	IBA Inferred from Biological aspect of Ancestor 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	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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)

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