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GeneE
27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BMAL1
basic helix-loop-helix ARNT like 1
Chromosome 11 · 11p15.3
NCBI Gene: 406Ensembl: ENSG00000133794.20HGNC: HGNC:701UniProt: A0A140VKD3
267PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription factor bindingDNA bindingprotein bindingaryl hydrocarbon receptor bindinghypertensionosteoarthritiscoronary artery diseaseosteoarthritis, knee
✦AI Summary

BMAL1 (basic helix-loop-helix ARNT like 1) is a core circadian transcription factor that heterodimerizes with CLOCK to regulate rhythmic gene expression across multiple physiological systems 1. As a master circadian regulator, BMAL1 controls lipid metabolism, food intake, and glucose homeostasis through expression in the hypothalamus, liver, intestine, heart, and lung 2. Mechanistically, BMAL1 functions through E-box binding [GO annotations] and forms non-canonical partnerships; notably, BMAL1 heterodimerizes with HIF2A to modulate circadian hypoxic responses and regulate myocardial injury severity in a time-of-day dependent manner 3. BMAL1 also regulates mitochondrial fission and mitophagy by binding E-box elements in the BNIP3 promoter, maintaining mitochondrial oxidative phosphorylation and cardiac contractility 4. In disease contexts, BMAL1 dysregulation associates with dilated cardiomyopathy, cardiovascular disease, and thyroid aging through impaired cellular senescence control 4, 5. BMAL1 suppresses ferroptosis by repressing EGLN2 transcription and stabilizing HIF1A 6, while the CLOCK-BMAL1 complex promotes glioblastoma stem cell maintenance and immunosuppression via OLFML3 upregulation 7. Circadian disruption, manifested through BMAL1 downregulation, impairs immune responses and exacerbates viral susceptibility and inflammatory disease 8. Small molecule modulators targeting BMAL1's PASB domain show promise for therapeutic intervention 1.

Sources cited
1
BMAL1 forms transcriptionally active heterodimer with HIF2A to regulate circadian-dependent myocardial injury and identify AREG as rhythmic target
PMID: 40269168
2
BMAL1 acts as central master circadian clock regulating adiposity, body weight, lipid metabolism, and diabetes through control of SCN and peripheral tissues
PMID: 32705594
3
BMAL1 regulates mitochondrial fission and mitophagy through BNIP3 E-box binding and is critical for normal cardiac function and prevention of dilated cardiomyopathy
PMID: 32277346
4
Clockophagy (autophagic BMAL1 degradation) promotes ferroptosis by removing BMAL1-mediated repression of EGLN2 and HIF1A inactivation
PMID: 31355331
5
Core Circadian Modulator small molecule targets BMAL1 PASB domain to alter BMAL1-CLOCK transcriptional activity and downregulate inflammatory pathways
PMID: 40133642
6
CLOCK-BMAL1 complex enhances glioma stem cell self-renewal and recruits immune-suppressive microglia via OLFML3 transcriptional upregulation
PMID: 31919052
7
BMAL1 downregulation during thyroid aging accelerates cellular senescence through reduced NFKBIA expression and NF-κB pathway activation
PMID: 40434135
8
BMAL1 circadian gene disruption affects immune system and increases susceptibility to inflammatory conditions and viral infections including COVID-19 via NF-κB pathway
PMID: 33792447
Disease Associationsⓘ20
hypertensionOpen Targets
0.51Moderate
osteoarthritisOpen Targets
0.50Moderate
coronary artery diseaseOpen Targets
0.47Moderate
osteoarthritis, kneeOpen Targets
0.47Moderate
Back painOpen Targets
0.44Moderate
spondylosisOpen Targets
0.42Moderate
neurotic disorderOpen Targets
0.41Moderate
type 2 diabetes mellitusOpen Targets
0.41Moderate
essential hypertensionOpen Targets
0.40Moderate
cardiovascular diseaseOpen Targets
0.39Weak
musculoskeletal system diseaseOpen Targets
0.39Weak
Increased blood pressureOpen Targets
0.38Weak
PainOpen Targets
0.38Weak
radiculitisOpen Targets
0.38Weak
obesityOpen Targets
0.37Weak
vertebral column disorderOpen Targets
0.36Weak
disorder of earOpen Targets
0.34Weak
esophageal diseaseOpen Targets
0.33Weak
spinal stenosisOpen Targets
0.32Weak
medical procedureOpen Targets
0.31Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NPAS2Protein interaction100%FBXL3Protein interaction100%CSNK1EProtein interaction100%PER3Protein interaction100%PPARGC1AProtein interaction100%TIMELESSProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
96%
Liver
85%
Bone Marrow
73%
Brain
62%
Heart
11%
Gene Interaction Network
Click a node to explore
BMAL1NPAS2FBXL3CSNK1EPER3PPARGC1ATIMELESS
PROTEIN STRUCTURE
Preparing viewer…
PDB8RW6 · 1.83 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.25Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.25]
RankingsWhere BMAL1 stands among ~20K protein-coding genes
  • #1,393of 20,598
    Most Researched267 · top 10%
  • #771of 17,882
    Most Constrained (LOEUF)0.25 · top 5%
Genes detectedBMAL1
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
BMAL1-HIF2A heterodimer modulates circadian variations of myocardial injury.
PMID: 40269168
Nature · 2025
1.00
2
Circadian Clock Regulation on Lipid Metabolism and Metabolic Diseases.
PMID: 32705594
Adv Exp Med Biol · 2020
0.90
3
BMAL1 regulates mitochondrial fission and mitophagy through mitochondrial protein BNIP3 and is critical in the development of dilated cardiomyopathy.
PMID: 32277346
Protein Cell · 2020
0.80
4
The circadian clock gene BMAL1 modulates autoimmunity features in lupus.
PMID: 39664388
Front Immunol · 2024
0.76
5
Circadian Gene BMAL1 Regulation of Cellular Senescence in Thyroid Aging.
PMID: 40434135
Aging Cell · 2025
0.70