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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KBTBD8
kelch repeat and BTB domain containing 8
Chromosome 3 · 3p14.1
NCBI Gene: 84541Ensembl: ENSG00000163376.11HGNC: HGNC:30691UniProt: Q8NFY9
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein monoubiquitinationprotein bindingCul3-RING ubiquitin ligase complexneural crest formationglaucomaopen-angle glaucomarespiratory failurealcohol drinking
✦AI Summary

KBTBD8 (kelch repeat and BTB domain containing 8) functions as a substrate-specific adapter protein in the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex, playing a crucial role in neural crest cell specification 1. The protein localizes to the Golgi apparatus in non-dividing cells and translocates to the spindle apparatus during mitosis 2. Mechanistically, CUL3-KBTBD8 complex mediates monoubiquitination of NOLC1 and TCOF1, promoting formation of a NOLC1-TCOF1 platform that connects RNA polymerase I with ribosome modification enzymes, thereby remodeling the translational program to favor neural crest specification 1. This process requires multisite phosphorylation by CK2 kinase, creating a switch-like mechanism for cell fate transitions 3. Regarding disease relevance, KBTBD8 has been associated with idiopathic short stature, particularly in populations where height variants show significant differentiation 45. Additionally, elevated KBTBD8 expression is found in epithelial ovarian cancer, where its downregulation significantly inhibits tumor cell proliferation and migration 6. These findings suggest KBTBD8 serves as both a developmental regulator through translational control and a potential therapeutic target in certain cancers and growth disorders.

Sources cited
1
KBTBD8 acts as substrate adapter in CUL3 E3 ligase complex for neural crest specification through monoubiquitination of NOLC1 and TCOF1
PMID: 26399832
2
KBTBD8 localizes to Golgi apparatus and translocates to spindle apparatus during mitosis
PMID: 23578279
3
CUL3-KBTBD8 requires multisite CK2 phosphorylation for substrate recognition, creating switch-like cell fate transitions
PMID: 29999490
4
KBTBD8 is associated with idiopathic short stature in genetic association studies
PMID: 19893584
5
KBTBD8 shows significant differentiation in populations with extreme height phenotypes
PMID: 31848607
6
Elevated KBTBD8 expression in epithelial ovarian cancer; downregulation inhibits proliferation and migration
PMID: 33109073
Disease Associationsⓘ20
glaucomaOpen Targets
0.33Weak
open-angle glaucomaOpen Targets
0.31Weak
respiratory failureOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
intracranial hemorrhageOpen Targets
0.23Weak
HypercholesterolemiaOpen Targets
0.22Weak
Myasthenia gravisOpen Targets
0.22Weak
facial morphologyOpen Targets
0.21Weak
Abruptio PlacentaeOpen Targets
0.21Weak
diabetes mellitusOpen Targets
0.20Weak
bone fractureOpen Targets
0.20Weak
inherited retinal dystrophyOpen Targets
0.20Weak
clavicle fractureOpen Targets
0.20Weak
shoulder fractureOpen Targets
0.20Weak
glomerulonephritisOpen Targets
0.19Weak
liver diseaseOpen Targets
0.19Weak
hypertrophic cardiomyopathyOpen Targets
0.17Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
immune system diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBX1Protein interaction99%KLHL22Protein interaction93%TNFAIP1Protein interaction92%GANProtein interaction92%LZTR1Protein interaction92%SPOPProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
37%
Brain
11%
Lung
8%
Liver
5%
Ovary
1%
Gene Interaction Network
Click a node to explore
KBTBD8RBX1KLHL22TNFAIP1GANLZTR1SPOP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NFY9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.37–0.70]
RankingsWhere KBTBD8 stands among ~20K protein-coding genes
  • #13,217of 20,598
    Most Researched24
  • #5,297of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedKBTBD8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Population History and Gene Divergence in Native Mexicans Inferred from 76 Human Exomes.
PMID: 31848607
Mol Biol Evol · 2020
1.00
2
Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions.
PMID: 29999490
Elife · 2018
0.90
3
Cell-fate determination by ubiquitin-dependent regulation of translation.
PMID: 26399832
Nature · 2015
0.80
4
Downregulation of the ubiquitin ligase KBTBD8 prevented epithelial ovarian cancer progression.
PMID: 33109073
Mol Med · 2020
0.70
5
The novel BTB-kelch protein, KBTBD8, is located in the Golgi apparatus and translocates to the spindle apparatus during mitosis.
PMID: 23578279
Cell Div · 2013
0.60