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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BAZ1B
bromodomain adjacent to zinc finger domain 1B
Chromosome 7 · 7q11.23
NCBI Gene: 9031Ensembl: ENSG00000009954.11HGNC: HGNC:961UniProt: Q9UIG0
166PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinaseTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of transcription by RNA polymerase IIInegative regulation of mitotic chromosome condensationnucleusneurodegenerative diseasegouthyperuricemiahyperlipidemia
✦AI Summary

BAZ1B is an atypical tyrosine-protein kinase and regulatory subunit of ATP-dependent ISWI chr7 remodeling complexes (WICH-1 and WICH-5) that orchestrates multiple nuclear processes 1. As a chr7 remodeler, BAZ1B regulates nucleosome spacing and positioning to facilitate DNA replication, transcription, and repair 23. BAZ1B phosphorylates histone H2AX at tyrosine-142, generating H2AXY142ph, which distinguishes apoptotic from repair responses to DNA damage 14. The protein regulates transcription across all three RNA polymerases and mediates recruitment of WICH-5 complexes to replication forks 56. Beyond chr7 remodeling, BAZ1B modulates PCNA de-ubiquitination during DNA repair by directly interacting with ATAD5, preventing premature restoration of high-fidelity synthesis after lesion bypass 7. BAZ1B haploinsufficiency contributes to Williams syndrome (7q11.23 microdeletion), affecting craniofacial development through neural crest regulation and cognitive/behavioral phenotypes 89. Recent evidence links BAZ1B variants to gout susceptibility via serum uric acid metabolism 10. BAZ1B functions as a versatile 'protean protein' integrating chr7 architecture, transcriptional control, and DNA damage responses 11.

Sources cited
1
BAZ1B is an atypical tyrosine-protein kinase and regulatory subunit of ATP-dependent ISWI chr7 remodeling complexes (WICH-1 and WICH-5) that orchestrates multiple nuclear processes .
PMID: 19092802
2
Beyond chr7 remodeling, BAZ1B modulates PCNA de-ubiquitination during DNA repair by directly interacting with ATAD5, preventing premature restoration of high-fidelity synthesis after lesion bypass .
PMID: 39627214
3
Recent evidence links BAZ1B variants to gout susceptibility via serum uric acid metabolism .
PMID: 33517564
4
BAZ1B functions as a versatile 'protean protein' integrating chr7 architecture, transcriptional control, and DNA damage responses .
PMID: 34680936
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
goutOpen Targets
0.40Weak
hyperuricemiaOpen Targets
0.33Weak
hyperlipidemiaOpen Targets
0.31Weak
metabolic diseaseOpen Targets
0.29Weak
familial lipoprotein lipase deficiencyOpen Targets
0.27Weak
congestive heart failureOpen Targets
0.21Weak
syndromic intellectual disabilityOpen Targets
0.12Weak
Williams syndromeOpen Targets
0.12Weak
hemolytic anemiaOpen Targets
0.11Weak
breast cancerOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
Intrahepatic cholestasis of pregnancyOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
atrioventricular septal defect 5Open Targets
0.06Suggestive
22q11.2 deletion syndromeOpen Targets
0.06Suggestive
HeterotaxiaOpen Targets
0.06Suggestive
ventricular septal defect 1Open Targets
0.06Suggestive
congenital heart diseaseOpen Targets
0.06Suggestive
congenital heart defects, multiple types, 4Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYO1CProtein interaction100%POLE3Protein interaction100%H3C12Protein interaction100%EP300Protein interaction100%H2AXProtein interaction100%CHD4Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
81%
Ovary
66%
Heart
62%
Lung
50%
Liver
42%
Gene Interaction Network
Click a node to explore
BAZ1BMYO1CPOLE3H3C12EP300H2AXCHD4
PROTEIN STRUCTURE
Preparing viewer…
PDB5NNF · 1.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.14 [0.10–0.20]
RankingsWhere BAZ1B stands among ~20K protein-coding genes
  • #2,683of 20,598
    Most Researched166 · top quartile
  • #454of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedBAZ1B
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Williams syndrome.
PMID: 34140529
Nat Rev Dis Primers · 2021
1.00
2
L-Arginine Modulates T Cell Metabolism and Enhances Survival and Anti-tumor Activity.
PMID: 27745970
Cell · 2016
0.90
3
BAZ1B the Protean Protein.
PMID: 34680936
Genes (Basel) · 2021
0.80
4
Identification of osteoporosis ferroptosis-related markers and potential therapeutic compounds based on bioinformatics methods and molecular docking technology.
PMID: 38650009
BMC Med Genomics · 2024
0.72
5
ATAD5-BAZ1B interaction modulates PCNA ubiquitination during DNA repair.
PMID: 39627214
Nat Commun · 2024
0.70