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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USF1
upstream transcription factor 1
Chromosome 1 · 1q23.3
NCBI Gene: 7391Ensembl: ENSG00000158773.15HGNC: HGNC:12593UniProt: A0A0S2Z4U5
189PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription factor activity, RNA polymerase II-specificE-box bindingsequence-specific double-stranded DNA bindingresponse to hypoxianeurodegenerative diseasetooth diseasebreast cancerglioma
✦AI Summary

USF1 (upstream transcription factor 1) is a basic helix-loop-helix leucine zipper transcription factor that binds E-box sequences (5'-CACGTG-3') in gene promoters to regulate transcription by RNA polymerase II. USF1 functions as a metabolic regulator with broad involvement in lipid and glucose homeostasis, responding to cellular nutrient status and hypoxia. Mechanistically, USF1 activity is post-translationally regulated through phosphorylation; dephosphorylation of USF1 at S309 by PTP4A1 increases its transcriptional activity 1. USF1 transcriptionally activates target genes including SREBF2 (involved in cholesterol biosynthesis) 2, USP14 (a deubiquitinase) 3, ATG5 (autophagy regulator) 4, and A20/TNFAIP3 (NF-κB inhibitor) 1. USF1 protein stability is regulated by the USP5 deubiquitinase 4. USF1 dysfunction associates with metabolic and cardiovascular diseases. USF1 mutations cause familial combined hyperlipidemia type 1, and USF1 upregulation promotes atherosclerosis by driving endothelial-to-mesenchymal transformation through the USP14/NLRC5 axis 3. In cancer contexts, USF1 promotes immune evasion in colorectal cancer by directing cholesterol biosynthesis 2 and docetaxel resistance in lung cancer through autophagy induction 4. USF1 gene polymorphisms correlate with chemotherapy efficacy and toxicity in ovarian cancer 5. USF1 also regulates hematopoietic transcription factors relevant to leukemia pathogenesis 6.

Sources cited
1
USF1 is stabilized by DUSP18 dephosphorylation and induces SREBF2 to promote cholesterol biosynthesis and tumor immune evasion
PMID: 38992029
2
USF1 transcriptionally activates USP14 to promote endothelial-to-mesenchymal transformation and atherosclerosis via NLRC5/Smad2/3 axis
PMID: 38424494
3
PTP4A1 dephosphorylates USF1 at S309 to increase transcriptional activity and induce A20/TNFAIP3 expression for NF-κB inhibition
PMID: 36534975
4
USF1 protein stability is regulated by USP5-mediated deubiquitination; USF1 inactivation reduces ATG5 transcription and docetaxel resistance
PMID: 36641841
5
USF1 gene polymorphisms (rs2516839) associate with paclitaxel chemotherapy efficacy, toxicity, and prognosis in ovarian cancer
PMID: 29322800
6
USF1 and USF2 bind E-box sequences in the CYP19 promoter; USF1 protein levels (not mRNA) increase under hypoxia and inhibit trophoblast differentiation
PMID: 12917334
7
USF1/USF2 transcription factors regulate HOXA9 expression in leukemia pathogenesis
PMID: 39017854
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.44Moderate
tooth diseaseOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
cardiovascular diseaseOpen Targets
0.08Suggestive
atherosclerosisOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
lung cancerOpen Targets
0.05Suggestive
microcephaly 9, primary, autosomal recessiveOpen Targets
0.05Suggestive
chronic gastritisOpen Targets
0.05Suggestive
cervical cancerOpen Targets
0.05Suggestive
developmental and epileptic encephalopathy 104Open Targets
0.05Suggestive
trichotillomaniaOpen Targets
0.05Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesOpen Targets
0.04Suggestive
Tourette syndromeOpen Targets
0.04Suggestive
Hyperlipidemia, familial combined, 1UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SP1Protein interaction100%TAF7Protein interaction100%GTF2IProtein interaction96%ESR1Protein interaction95%EP300Protein interaction89%SMARCD3Protein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
86%
Liver
67%
Ovary
49%
Heart
37%
Brain
25%
Gene Interaction Network
Click a node to explore
USF1SP1TAF7GTF2IESR1EP300SMARCD3
PROTEIN STRUCTURE
Preparing viewer…
PDB1AN4 · 2.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.46 [0.33–0.66]
RankingsWhere USF1 stands among ~20K protein-coding genes
  • #2,276of 20,598
    Most Researched189 · top quartile
  • #4,802of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedUSF1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The ménage à trois of autophagy, lipid droplets and liver disease.
PMID: 33794741
Autophagy · 2022
1.00
2
Inhibition of DUSP18 impairs cholesterol biosynthesis and promotes anti-tumor immunity in colorectal cancer.
PMID: 38992029
Nat Commun · 2024
0.90
3
USF1 transcriptionally activates USP14 to drive atherosclerosis by promoting EndMT through NLRC5/Smad2/3 axis.
PMID: 38424494
Mol Med · 2024
0.80
4
Gene-gene interaction between APOA5 and USF1: two candidate genes for the metabolic syndrome.
PMID: 20054229
Obes Facts · 2009
0.72
5
Endothelial PTP4A1 mitigates vascular inflammation via USF1/A20 axis-mediated NF-κB inactivation.
PMID: 36534975
Cardiovasc Res · 2023
0.70