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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BTBD1
BTB domain containing 1
Chromosome 15 · 15q25.2
NCBI Gene: 53339Ensembl: ENSG00000064726.11HGNC: HGNC:1120UniProt: Q9H0C5
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingcullin family protein bindingP-bodytype 2 diabetes mellitusneurodegenerative diseasechronic obstructive pulmonary diseasetinea unguium
✦AI Summary

BTBD1 (BTB domain containing 1) is a substrate-specific adapter protein that functions as part of an E3 ubiquitin-protein ligase complex, mediating ubiquitination and proteasomal degradation of target proteins 1. The protein contains a BTB/POZ domain that mediates protein-protein interactions and localizes to cytoplasmic bodies where it colocalizes with TRIM5δ, which serves as a scaffold for BTBD1 assembly 1. BTBD1 physically interacts with DNA topoisomerase I (TOP1) through its C-terminal region, affecting TOP1's nuclear localization and potentially regulating its expression levels 23. The protein plays a critical role in mesenchymal differentiation, specifically promoting myogenic differentiation while suppressing adipogenesis 4. BTBD1 mRNA expression is upregulated during myogenesis but downregulated during adipogenesis, with corresponding inverse changes in TOP1 protein levels 4. Loss of functional BTBD1 severely impairs muscle cell differentiation, as overexpression of truncated BTBD1 prevents myotube formation while preserving adipogenic capacity 3. BTBD1 is highly expressed in heart and skeletal muscle tissues and appears to be essential for proper myogenic differentiation through regulation of the ubiquitin/proteasome pathway 54. The protein has also been implicated in cancer progression, where it may promote tumor growth through PI3K/AKT signaling 6.

Sources cited
1
BTBD1 functions in E3 ubiquitin ligase complex and colocalizes with TRIM5δ in cytoplasmic bodies
PMID: 12878161
2
BTBD1 physically interacts with topoisomerase I through C-terminal region
PMID: 11818025
3
BTBD1 affects TOP1 nuclear localization and is essential for myogenic differentiation
PMID: 15486563
4
BTBD1 promotes myogenesis while suppressing adipogenesis, with inverse regulation of TOP1 protein
PMID: 17462629
5
BTBD1 contains BTB/POZ domain and is highly expressed in heart and skeletal muscle
PMID: 11179693
6
BTBD1 promotes tumor progression through PI3K/AKT signaling pathway
PMID: 37290676
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.29Weak
chronic obstructive pulmonary diseaseOpen Targets
0.24Weak
tinea unguiumOpen Targets
0.17Weak
nephrotic syndromeOpen Targets
0.05Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.05Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.04Suggestive
focal segmental glomerulosclerosisOpen Targets
0.04Suggestive
immunoglobulin-mediated membranoproliferative glomerulonephritisOpen Targets
0.04Suggestive
familial juvenile hyperuricemic nephropathy type 2Open Targets
0.04Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.04Suggestive
nephrotic syndrome, type 22Open Targets
0.04Suggestive
congenital anomalies of kidney and urinary tract 1Open Targets
0.04Suggestive
renal hypodysplasia/aplasia 3Open Targets
0.04Suggestive
nephrotic syndrome 15Open Targets
0.04Suggestive
congenital hydronephrosisOpen Targets
0.03Suggestive
nephrotic syndrome, type 2Open Targets
0.03Suggestive
nephrotic syndrome, type 3Open Targets
0.03Suggestive
focal segmental glomerulosclerosis 7Open Targets
0.03Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTBD6Shared pathway100%PGBD1Shared pathway100%CUL3Protein interaction96%TRIM5Protein interaction95%COPS5Protein interaction94%COPS3Protein interaction80%
Tissue Expression6 tissues
Heart
100%
Brain
53%
Bone Marrow
26%
Lung
19%
Liver
15%
Ovary
15%
Gene Interaction Network
Click a node to explore
BTBD1BTBD6PGBD1CUL3TRIM5COPS5COPS3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H0C5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.59–1.10]
RankingsWhere BTBD1 stands among ~20K protein-coding genes
  • #8,917of 20,598
    Most Researched49
  • #11,305of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedBTBD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24.
PMID: 11179693
Gene · 2001
1.00
2
MiR-200b-5p inhibits tumor progression in salivary adenoid cystic carcinoma via targeting BTBD1.
PMID: 37290676
Cell Signal · 2023
0.90
3
Establishment and Verification of a Gene Signature for Diagnosing Type 2 Diabetics by WGCNA, LASSO Analysis, and In Vitro Experiments.
PMID: 35655479
Biomed Res Int · 2022
0.80
4
BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta.
PMID: 12878161
Exp Cell Res · 2003
0.70
5
Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with Topoisomerase I.
PMID: 11818025
BMC Genomics · 2002
0.60