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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BTAF1
B-TFIID TATA-box binding protein associated factor 1
Chromosome 10 · 10q23.32
NCBI Gene: 9044Ensembl: ENSG00000095564.16HGNC: HGNC:17307UniProt: O14981
90PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of chromatin bindingtranscription coregulator activitynegative regulation of DNA-templated transcriptionATP-dependent activity, acting on DNAsmoking initiationneurodegenerative diseaseexostosisadolescent idiopathic scoliosis
✦AI Summary

BTAF1 is a SNF2-like ATPase that dynamically regulates RNA polymerase II transcription by controlling TATA-binding protein (TBP) function 1. As a core component of the B-TFIID complex, BTAF1 binds directly to TBP and uses ATP hydrolysis to dissociate TBP from TATA box DNA 12. This interaction occurs through TBP's DNA-binding surface and helix 2, allowing BTAF1 to modulate TBP-DNA binding specificity and recruit DNA-binding defective TBP mutants to promoters 3. In living cells, BTAF1 primarily regulates TBP dissociation rates from chr10 rather than association rates, functioning alongside the NC2 complex to release TBP-NC2 complexes from active promoters 4. BTAF1 also physically cooperates with NC2α to enhance ATP-dependent TBP interactions 5. The functional importance of BTAF1 is underscored by embryonic lethality in mice homozygous for loss-of-function mutations in the ATPase domain, with animals dying at early somite stages with growth arrest and edema 2. Beyond its canonical transcriptional role, the BTAF1 ortholog in Drosophila positively regulates antimicrobial peptide gene expression during innate immune response 6. These findings establish BTAF1 as a critical regulator of dynamic TBP chr10 engagement with both positive and negative transcriptional regulatory functions.

Sources cited
1
BTAF1 dissociates TBP from TATA DNA using ATP hydrolysis and regulates TBP function on pol II promoters
PMID: 14557059
2
Btaf1 loss-of-function mutation causes embryonic lethality at E9-E10.5 with impaired TBP release from chromatin
PMID: 21419221
3
NC2α physically interacts with BTAF1 and stimulates ATP-dependent BTAF1-TBP association
PMID: 15509807
4
BTAF1 binds TBP through its DNA-binding surface and helix 2, modulating TATA-box binding specificity
PMID: 16179647
5
BTAF1 regulates TBP dissociation rates from chromatin and negatively regulates TBP binding to active promoters
PMID: 20627952
6
Drosophila BTAF1 ortholog positively regulates antimicrobial peptide gene expression in innate immune response
PMID: 16200050
Disease Associationsⓘ20
smoking initiationOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
exostosisOpen Targets
0.32Weak
adolescent idiopathic scoliosisOpen Targets
0.31Weak
ovarian neoplasmOpen Targets
0.31Weak
placenta praeviaOpen Targets
0.31Weak
metabolic syndromeOpen Targets
0.25Weak
brain compressionOpen Targets
0.24Weak
edemaOpen Targets
0.24Weak
myocardial infarctionOpen Targets
0.13Weak
diabetic ketoacidosisOpen Targets
0.09Suggestive
left ventricular noncompactionOpen Targets
0.05Suggestive
coronary atherosclerosisOpen Targets
0.05Suggestive
lymphatic malformation 11Open Targets
0.05Suggestive
lung diseaseOpen Targets
0.04Suggestive
hereditary angioedemaOpen Targets
0.04Suggestive
hereditary angioedema with normal C1InhOpen Targets
0.04Suggestive
LipedemaOpen Targets
0.04Suggestive
lymphatic malformation 8Open Targets
0.04Suggestive
Milroy diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DR1Protein interaction100%TAF2Protein interaction100%TBPProtein interaction100%GTF2BProtein interaction100%DRAP1Protein interaction99%TBPL1Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
61%
Lung
43%
Liver
33%
Heart
27%
Brain
15%
Gene Interaction Network
Click a node to explore
BTAF1DR1TAF2TBPGTF2BDRAP1TBPL1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O14981
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.21Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.12–0.21]
RankingsWhere BTAF1 stands among ~20K protein-coding genes
  • #5,288of 20,598
    Most Researched90
  • #529of 17,882
    Most Constrained (LOEUF)0.21 · top 5%
Genes detectedBTAF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Roles for BTAF1 and Mot1p in dynamics of TATA-binding protein and regulation of RNA polymerase II transcription.
PMID: 14557059
Gene · 2003
1.00
2
An ENU-induced point mutation in the mouse Btaf1 gene causes post-gastrulation embryonic lethality and protein instability.
PMID: 21419221
Mech Dev · 2011
0.90
3
NC2alpha interacts with BTAF1 and stimulates its ATP-dependent association with TATA-binding protein.
PMID: 15509807
Mol Cell Biol · 2004
0.80
4
The general transcription machinery and general cofactors.
PMID: 16858867
Crit Rev Biochem Mol Biol · 2006
0.70
5
Mutational analysis of BTAF1-TBP interaction: BTAF1 can rescue DNA-binding defective TBP mutants.
PMID: 16179647
Nucleic Acids Res · 2005
0.60